ASHG 2023

Protein Name	UniProt Accession Number
Adiponectin	Q60994
Afamin	O89020
Alpha-1-acid glycoprotein 2	P07361
Alpha-1-antitrypsin 1-1	P07758
Alpha-1-antitrypsin 1-4	Q00897
Alpha-1B-glycoprotein	Q19LI2
Alpha-2-antiplasmin	Q61247
Alpha-enolase	P17182
Angiotensinogen	P11859
Antithrombin-III	P32261
Apolipoprotein A-II	P09813
Apolipoprotein A-IV	P06728
Apolipoprotein C-IV	Q61268
Apolipoprotein D	P51910
Apolipoprotein M	Q9Z1R3
Bisphosphoglycerate mutase	P15327
BPI fold-containing family A member 2	P07743
Cadherin-5	P55284
Carbonic anhydrase 2	P00920
Carboxypeptidase B2	Q9JHH6
Carboxypeptidase N catalytic chain	Q9JJN5
Carboxypeptidase Q	Q9WVJ3
Cartilage oligomeric matrix protein	Q9R0G6
Cathepsin D	P18242
CD5 antigen-like	Q9QWK4
Ceruloplasmin	Q61147
Coagulation factor V	O88783
Coagulation factor X	O88947
Coagulation factor XII	Q80YC5
Coagulation factor XIII A chain	Q8BH61
Coagulation factor XIII B chain	Q07968
Collagen alpha-2(I) chain	Q01149
Collectin-11	Q3SXB8
Complement C1q subcomponent subunit A	P98086
Complement C1q subcomponent subunit C	Q02105
Complement C1r subcomponent-like protein	Q3UZ09
Complement C3	P01027
Complement C4-B	P01029
Complement component C8 beta chain	Q8BH35
Complement component C8 gamma chain	Q8VCG4
Complement factor I	Q61129
Corticosteroid-binding globulin	Q06770
C-reactive protein	P14847
Dermokine	Q6P253
Dipeptidase 2	Q8C255
Endoplasmic reticulum chaperone BiP	P20029
Endosialin	Q91V98
Epidermal growth factor receptor	Q01279
Extracellular matrix protein 1	Q61508
Extracellular superoxide dismutase	O09164
Fetuin-B	Q9QXC1
Fibrinogen beta chain	Q8K0E8
Fibrinogen gamma chain	Q8VCM7
Fibronectin	P11276
Fructose-bisphosphate aldolase A	P05064
Fructose-bisphosphate aldolase B	Q91Y97
Gamma-glutamyl hydrolase	Q9Z0L8
Gelsolin	P13020
Glial fibrillary acidic protein	P03995
Glutathione peroxidase 3	P46412
Glutathione S-transferase A3	P30115
H-2 class I histocompatibility antigen, Q10 alpha chain	P01898
Haptoglobin	Q61646
Heat shock protein HSP 90-beta	P11499
Hemoglobin subunit beta-1	P02088
Hemopexin	Q91X72
Heparin cofactor 2	P49182
Histidine-rich glycoprotein	Q9ESB3
Histone H4	P62806
Hyaluronan-binding protein 2	Q8K0D2
Ig gamma-1 chain C region, membrane-bound form	P01869
Ig gamma-2A chain C region secreted form	P01864
Ig gamma-2B chain C region	P01867
Immunoglobulin J chain	P01592
Immunoglobulin kappa constant	P01837
Inhibitor of carbonic anhydrase	Q9DBD0
Inorganic pyrophosphatase	Q9D819
Insulin-like growth factor-binding protein 3	P47878
Inter alpha-trypsin inhibitor, heavy chain 4	A6X935
Inter-alpha-trypsin inhibitor heavy chain H1	Q61702
Inter-alpha-trypsin inhibitor heavy chain H2	Q61703
Inter-alpha-trypsin inhibitor heavy chain H3	Q61704
Intercellular adhesion molecule 1	P13597
Intercellular adhesion molecule 2	P35330
Interleukin-1 receptor accessory protein	Q61730
Interleukin-18-binding protein	Q9Z0M9
Kininogen-1	O08677
Leukemia inhibitory factor receptor	P42703
Lumican	P51885
Macrophage colony-stimulating factor 1 receptor	P09581
Mannan-binding lectin serine protease 2	Q91WP0
Metalloproteinase inhibitor 2	P25785
Microfibril-associated glycoprotein 4	Q9D1H9
N-acetylmuramoyl-L-alanine amidase	Q8VCS0
Osteopontin	P10923
Peroxiredoxin-1	P35700
Peroxiredoxin-2	Q61171
Phospholipid transfer protein	P55065
Pigment epithelium-derived factor	P97298
Plasma kallikrein	P26262
Plasma protease C1 inhibitor	P97290
Plasminogen	P20918
Platelet factor 4	Q9Z126
Platelet glycoprotein Ib alpha chain	O35930
Platelet glycoprotein V	O08742
Proprotein convertase subtilisin/kexin type 9	Q80W65
Proteasome subunit alpha type-1	Q9R1P4
Proteasome subunit alpha type-4	Q9R1P0
Protein AMBP	Q07456
Protein S100-A11	P50543
Protein S100-A9	P31725
Protein Z-dependent protease inhibitor	Q8R121
Pyruvate kinase PKLR	P53657
Serotransferrin	Q921I1
Serum amyloid A-1 protein	P05366
Serum paraoxonase/arylesterase 1	P52430
Sulfhydryl oxidase 1	Q8BND5
Tenascin	Q80YX1
Uteroglobin	Q06318
Vascular cell adhesion protein 1	P29533
Vasorin	Q9CZT5
Vitamin D-binding protein	P21614
Vitamin K-dependent protein C	P33587
Vitronectin	P29788
Zinc-alpha-2-glycoprotein	Q64726
26S proteasome non-ATPase regulatory subunit 9	Q9CR00
40S ribosomal protein S2	P25444
Actin, aortic smooth muscle	P62737
Alpha-2-macroglobulin receptor-associated protein	P55302
Alpha-actinin-1	Q7TPR4
Alpha-amylase 1	P00687
Alpha-synuclein	O55042
Apolipoprotein B-100	E9Q414
ATP synthase subunit d, mitochondrial	Q9DCX2
Beta-1,4-galactosyltransferase 1	P15535
Beta-2-glycoprotein 1	Q01339
Beta-enolase	P21550
Bleomycin hydrolase	Q8R016
Cadherin-1	P09803
Carbonic anhydrase 3	P16015
Carboxylesterase 1C	P23953
Carboxylesterase 3A	Q63880
Cathepsin S	O70370
Cathepsin Z	Q9WUU7
Cell growth regulator with EF hand domain protein 1	Q8R1U2
Chitotriosidase-1	Q9D7Q1
Cholinesterase	Q03311
Chromogranin-A	P26339
Clusterin	Q06890
Coagulation factor IX	P16294
Coagulation factor VII	P70375
Cofilin-1	P18760
Collagen alpha-1(I) chain	P11087
Collagen alpha-1(III) chain	P08121
Complement component C8 alpha chain	Q8K182
Complement component C9	P06683
Complement factor H	P06909
Core histone macro-H2A.2	Q8CCK0
Cystatin-C	P21460
Cytochrome c, somatic	P62897
Di-N-acetylchitobiase	Q8R242
Dyslexia-associated protein KIAA0319-like protein	Q8K135
Dystroglycan	Q62165
EF-hand domain-containing protein D2	Q9D8Y0
EGF-containing fibulin-like extracellular matrix protein 1	Q8BPB5
Electron transfer flavoprotein subunit beta	Q9DCW4
Elongation factor 1-alpha 1	P10126
Elongation factor 1-beta	O70251
Endoplasmic reticulum aminopeptidase 1	Q9EQH2
Eukaryotic translation initiation factor 3 subunit E	P60229
Ezrin	P26040
Fibrinogen alpha chain	E9PV24
Ficolin-1	O70165
Fumarylacetoacetase	P35505
Galectin-1	P16045
Glucosidase 2 subunit beta	O08795
Glutathione reductase, mitochondrial	P47791
Glutathione S-transferase Mu 1	P10649
Glycerol-3-phosphate phosphatase	Q8CHP8
Hemoglobin subunit alpha	P01942
Hemoglobin subunit Zeta\|Hemoglobin subunit alpha	P06467\|P01942
Hepatocyte growth factor activator	Q9R098
Ig alpha chain C region	P01878
Ig heavy chain V region 102	P01750
Ig heavy chain V region MOPC 47A	P01786
Ig kappa chain V19-17	P01633
Ig kappa chain V-II region 7S34.1	P01630
Ig kappa chain V-III region PC 2154	P01674
Ig kappa chain V-V region MOPC 149	P01636
Ig kappa chain V-V region MOPC 173	P01643
Immunoglobulin heavy constant mu	P01872
Insulin-like growth factor I	P05017
Keratin, type I cytoskeletal 14	Q61781
Keratin, type I cytoskeletal 16	Q9Z2K1
Keratin, type II cytoskeletal 2 epidermal	Q3TTY5
Keratin, type II cytoskeletal 5	Q922U2
Kunitz-type protease inhibitor 1	Q9R097
Lactoylglutathione lyase	Q9CPU0
Low molecular weight phosphotyrosine protein phosphatase	Q9D358
L-selectin	P18337
Lysosomal alpha-mannosidase	O09159
Mesothelin	Q61468
Murinoglobulin-1	P28665
N(G),N(G)-dimethylarginine dimethylaminohydrolase 1	Q9CWS0
Neural cell adhesion molecule 1	P13595
Nucleobindin-1	Q02819
Nucleosome assembly protein 1-like 4	Q78ZA7
Out at first protein homolog	Q8QZR4
Pancreatic alpha-amylase	P00688
Papilin	Q9EPX2
Perilipin-3	Q9DBG5
Peroxiredoxin-4	O08807
Peroxiredoxin-6	O08709
Platelet-activating factor acetylhydrolase	Q60963
Plexin domain-containing protein 2	Q9DC11
Profilin-1	P62962
Progranulin	P28798
Prolow-density lipoprotein receptor-related protein 1	Q91ZX7
Properdin	P11680
Proteasome activator complex subunit 2	P97372
Proteasome subunit alpha type-5	Q9Z2U1
Proteasome subunit alpha type-6	Q9QUM9
Proteasome subunit beta type-1	O09061
Proteasome subunit beta type-4	P99026
Protein DEK	Q7TNV0
Proteoglycan 4	Q9JM99
P-selectin	Q01102
Pyruvate kinase PKM	P52480
Radixin	P26043
Serine protease inhibitor A3C	P29621
Serine protease inhibitor A3M	Q03734
Serine protease inhibitor A3N	Q91WP6
Serum amyloid A-4 protein	P31532
Sorbitol dehydrogenase	Q64442
SPARC	P07214
Spermine oxidase	Q99K82
TBC1 domain family member 10A	P58802
Thioredoxin	P10639
Thrombospondin-1	P35441
Thyroxine-binding globulin	P61939
Transaldolase	Q93092
Transcobalamin-2	O88968
Transketolase	P40142
Translocon-associated protein subunit alpha	Q9CY50
Transthyretin	P07309
Tropomyosin alpha-1 chain	P58771
Ubiquitin-conjugating enzyme E2 N	P61089
Ubiquitin-like protein ISG15	Q64339
Uromodulin	Q91X17
WD repeat-containing protein 1	O88342
14-3-3 protein sigma	O70456
26S proteasome regulatory subunit 6A	O88685
40S ribosomal protein S20	P60867
60 kDa heat shock protein, mitochondrial	P63038
6-phosphogluconolactonase	Q9CQ60
Actin, cytoplasmic 2	P63260
ADAMTS-like protein 4	Q80T21
Adipolin	Q8R2Z0
Alpha-1-acid glycoprotein 1	Q60590
Alpha-1-antitrypsin 1-2	P22599
Alpha-1-antitrypsin 1-5	Q00898
Alpha-2-macroglobulin-P	Q6GQT1
Alpha-hemoglobin-stabilizing protein	Q9CY02
Aminoacyl tRNA synthase complex-interacting multifunctional protein 1	P31230
Angiogenin	P21570
Angiopoietin-1 receptor	Q02858
Apolipoprotein A-I	Q00623
Apolipoprotein E	P08226
Arginase-1	Q61176
ATP synthase subunit beta, mitochondrial	P56480
Atrial natriuretic peptide receptor 1	P18293
Beta-2-microglobulin	P01887
Bifunctional purine biosynthesis protein PURH	Q9CWJ9
Calpastatin	P51125
CapZ-interacting protein	Q3UZA1
Carbonic anhydrase 1	P13634
Carboxylesterase 1D	Q8VCT4
Carboxypeptidase N subunit 2	Q9DBB9
Cathepsin B	P10605
Caveolae-associated protein 2	Q63918
CD97 antigen	Q9Z0M6
Coactosin-like protein	Q9CQI6
Coiled-coil domain-containing protein 25	Q78PG9
Collagen alpha-1(XII) chain	Q60847
Collagen alpha-2(XI) chain	Q64739
Complement C1q subcomponent subunit B	P14106
Complement C1s-A subcomponent	Q8CG14
Complement C2	P21180
Complement C5	P06684
Copper transport protein ATOX1	O08997
Coronin-1C	Q9WUM4
Cysteine-rich protein 2	Q9DCT8
Cytosol aminopeptidase	Q9CPY7
Deaminated glutathione amidase	Q8VDK1
Desmoglein-2	O55111
Eukaryotic initiation factor 4A-I	P60843
Eukaryotic translation initiation factor 3 subunit I	Q9QZD9
Eukaryotic translation initiation factor 4B	Q8BGD9
Exostosin-1	P97464
Ferritin heavy chain	P09528
Fibrinogen-like protein 1	Q71KU9
Flavin reductase (NADPH)	Q923D2
Follistatin-related protein 1	Q62356
Glutamate receptor ionotropic, NMDA 2A	P35436
Glutamine synthetase	P15105
Glycerol-3-phosphate dehydrogenase	P13707
Glycogen phosphorylase, liver form	Q9ET01
Glycosylation-dependent cell adhesion molecule 1	Q02596
Golgi-associated PDZ and coiled-coil motif-containing protein	Q8BH60
Growth/differentiation factor 8	O08689
GTP-binding nuclear protein Ran	P62827
Heme-binding protein 1	Q9R257
Ig gamma-3 chain C region	P03987
Ig kappa chain V-II region 17S29.1	P03976
Ig kappa chain V-II region 26-10	P01631
Ig kappa chain V-IV region S107B	P01680
Ig kappa chain V-V region K2 (Fragment)	P01635
Ig kappa chain V-VI region NQ2-6.1	P04945
Insulin-like growth factor II	P09535
Insulin-like growth factor-binding protein 6	P47880
Insulin-like growth factor-binding protein complex acid labile subunit	P70389
Kappa-casein	P06796
Keratin, type II cytoskeletal 2 oral	Q3UV17
Keratin, type II cytoskeletal 8	P11679
Lactotransferrin	P08071
Laminin subunit alpha-2	Q60675
Leptin receptor	P48356
Liprin-alpha-2	Q8BSS9
L-lactate dehydrogenase B chain	P16125
Lysosomal protective protein	P16675
Lysosome-associated membrane glycoprotein 1	P11438
Macrophage migration inhibitory factor	P34884
Mannan-binding lectin serine protease 1	P98064
Mannose-binding protein A	P39039
Mannose-binding protein C	P41317
Matrix metalloproteinase-17	Q9R0S3
MLV-related proviral Env polyprotein	P10404
Myeloperoxidase	P11247
Myosin light polypeptide 6	Q60605
Nidogen-1	P10493
Noelin	O88998
Pappalysin-1	Q8R4K8
Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1	Q9QUR7
Phosphatidylcholine-sterol acyltransferase	P16301
Phosphatidylethanolamine-binding protein 1	P70296
Phosphatidylinositol-glycan-specific phospholipase D	O70362
Plastin-2	Q61233
Podocan	Q7TQ62
Pregnancy zone protein	Q61838
Prenylcysteine oxidase	Q9CQF9
Procollagen C-endopeptidase enhancer 1	Q61398
Proline-rich acidic protein 1	Q80XD8
Proteasome subunit alpha type-2	P49722
Proteasome subunit beta type-10	O35955
Protein CTLA-2-alpha	P12399
Protein disulfide-isomerase	P09103
Protein phosphatase 1 regulatory subunit 7	Q3UM45
Prothrombin	P19221
Retinoic acid receptor responder protein 2	Q9DD06
Retinol-binding protein 4	Q00724
Selenoprotein P	P70274
Serum amyloid A-2 protein	P05367
Serum amyloid P-component	P12246
Serum paraoxonase/lactonase 3	Q62087
SPARC-like protein 1	P70663
Splicing factor 3B subunit 5	Q923D4
Superoxide dismutase [Cu-Zn]	P08228
Thrombospondin-4	Q9Z1T2
Transforming growth factor beta-1 proprotein	P04202
Tropomyosin alpha-3 chain	P21107-2
Tyrosine-protein kinase receptor Tie-1	Q06806
UMP-CMP kinase	Q9DBP5
Vasopressin-neurophysin 2-copeptin	P35455
Vinculin	Q64727
Vitamin K-dependent protein S	Q08761

Protein Name	Gene names	UniProt Accession Number	Link	Peptide Sequence	Disease	Description
60 kDa heat shock protein mitochondrial	HSPD1 HSP60	P10809	https://www.uniprot.org/uniprot/P10809	GIIDPTK	spastic paraplegia 13 autosomal, autosomal dominant	neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs.
N/L	N/L	N/L	N/L	N/L	leukodystrophy neurodegeneration	A severe autosomal recessive hypomyelinating leukodystrophy. Clinically characterized by infantile-onset rotary nystagmus, progressive spastic paraplegia, neurologic regression, motor impairment, profound mental retardation.
72 KDa type IV collagenase	MMP2 CLG4A	P08253	https://www.uniprot.org/uniprot/P08253	IDAVYEAPQEEK	Multicentric osteolysis, nodulosis and arthopathy (MONA)	An autosomal recessive syndrome characterized by severe multicentric osteolysis with predominant involvement of the hands and feet.
Endoplasmic reticulum chaperone BiP	HSPA5 GRP78	P11021	https://www.uniprot.org/uniprot/P11021	ITPSYVAFTPEGER	Autoantigen in rheumatoid arthritis.	N/L
A disintegrin and metalloproteinase with thrombospondin motifs 2	ADAMTS2 PCINP PCPNI	O95450	https://www.uniprot.org/uniprot/O95450	IILLSYGK	Ehlers-Danlos syndrome, dermatosparaxis type (EDSDERMS)	A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSDERMS is an autosomal recessive form characterized by extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers.
A disintegrin and metalloproteinase with thrombospondin motifs 20	ADAMTS20	P59510	https://www.uniprot.org/uniprot/P59510	IPAGATNVDIR	0	N/L
A disintegrin and metalloproteinase with thrombospondin motifs 9	ADAMTS9 KIAA1312	Q9P2N4	https://www.uniprot.org/uniprot/Q9P2N4	LYNPDVR	0	N/L
Actin, aortic smooth muscle \| Actin, alpha cardiac muscle 1 \| 8 other actin and actin-like proteins	ACTA2 ACTSA ACTVS GIG46	P62736	https://www.uniprot.org/uniprot/P62736	SYELPDGQVITIGNER	ACTA2 mutations predispose patients to a variety of diffuse and diverse vascular diseases, premature onset coronary artery disease (CAD), premature ischemic strokes and Moyamoya disease.	N/L
N/L	N/L	N/L	N/L	https://www.uniprot.org/uniprot/P62736	Aortic aneurysm, familial thoracic 6 (AAT6)	A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as ‘medial necrosis’ or ‘Erdheim cystic medial necrosis’ in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance.
N/L	N/L	N/L	N/L	N/L	Moyamoya disease 5 (MYMY5)	A progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a ‘puff of smoke’ (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults.
N/L	N/L	N/L	N/L	N/L	Multisystemic smooth muscle dysfunction syndrome (MSMDYS)	A syndrome characterized by dysfunction of smooth muscle cells throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension.
Actin, aortic smooth muscle \| Actin, alpha cardiac muscle 1 \| 8 other actin and actin-like proteins	ACTC1 ACTC	P68032	https://www.uniprot.org/uniprot/P68032	SYELPDGQVITIGNER	1. Cardiomyopathy, dilated 1R (CMD1R)	A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
N/L	N/L	N/L	N/L	https://www.uniprot.org/uniprot/P68032	Cardiomyopathy, familial hypertrophic 11 (CMH11)	A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
N/L	N/L	N/L	N/L	N/L	Atrial septal defect 5 (ASD5}.	A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.
Adhesion G protein-coupled receptor F5	ADGRF5 GPR116 KIAA0758	Q8IZF2	https://www.uniprot.org/uniprot/Q8IZF2	DVIVHPLPLK	0	N/L
Adipocyte plasma membrane-associated protein	APMAP C20orf3 UNQ1869/PRO4305	Q9HDC9	https://www.uniprot.org/uniprot/Q9HDC9	LLEYDTVTR	0	N/L
Adiponectin	ADIPOQ ACDC ACRP30 APM1 GBP28	Q15848	https://www.uniprot.org/uniprot/Q15848	IFYNQQNHYDGSTGK	Adiponectin deficiency (ADPND)	condition that results in very low concentrations of plasma adiponectin.
N/L	N/L	N/L	N/L	N/L	Diabetes mellitus, non-insulin-dependent (NIDDM)	A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body’s own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
ADM	ADM AM	P35318	https://www.uniprot.org/uniprot/P35318	LDVASEFR	0	N/L
Afamin	AFM ALB2 ALBA	P43652	https://www.uniprot.org/uniprot/P43652	DADPDTFFAK	0	N/L
Alpha-1-acid glycoprotein 1	ORM1 AGP1	P02763	https://www.uniprot.org/uniprot/P02763	NWGLSVYADKPETTK	0	N/L
Alpha-1-antichymotrypsin	SERPINA3 AACT GIG24 GIG25	P01011	https://www.uniprot.org/uniprot/P01011	EIGELYLPK	0	N/L
Alpha-1-antitrypsin	SERPINA1 AAT PI PRO0684 PRO2209	P01009	https://www.uniprot.org/uniprot/P01009	SVLGQLGITK	Alpha-1-antitrypsin deficiency (A1ATD)	A disorder whose most common manifestation is emphysema, which becomes evident by the third to fourth decade. A less common manifestation of the deficiency is liver disease, which occurs in children and adults, and may result in cirrhosis and liver failure
Alpha-1B-glycoprotein_VAR_018369	A1BG	P04217	https://www.uniprot.org/uniprot/P04217	LETPDFQLFK	0	N/L
Alpha-2-antiplasmin	SERPINF2 AAP PLI	P08697	https://www.uniprot.org/uniprot/P08697	LGNQEPGGQTALK	Alpha-2-plasmin inhibitor deficiency	An autosomal recessive disorder resulting in severe hemorrhagic diathesis.
Alpha-2-HS-glycoprotein	AHSG FETUA PRO2743	P02765	https://www.uniprot.org/uniprot/P02765	FSVVYAK	Alopecia-mental retardation syndrome 1 (APMR1)	A rare autosomal recessive form of alopecia. APMR1 patients show loss of hair on the scalp, absence of eyebrows, eyelashes, axillary and pubic hair, and mild to severe mental retardation.
Alpha-2-macroglobulin	A2M CPAMD5 FWP007	P01023	https://www.uniprot.org/uniprot/P01023	AIGYLNTGYQR	0	N/L
Angiogenin	ANG RNASE5	P03950	https://www.uniprot.org/uniprot/P03950	DINTFIHGNK	Amyotrophic lateral sclerosis 9 (ALS9)	A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
Angiopoietin-related protein 3	ANGPTL3 ANGPT5 UNQ153/PRO179	Q9Y5C1	https://www.uniprot.org/uniprot/Q9Y5C1	DLVFSTWDHK	Hypobetalipoproteinemia, familial, 2 (FHBL2)	A disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Affected individuals present with combined hypolipidemia, consisting of extremely low plasma levels of LDL cholesterol, HDL cholesterol, and triglycerides.
N/L	N/L	N/L	N/L	N/L	May be involved in atherosclerosis.	Plasma levels are closely associated with arterial wall thickness.
N/L	N/L	N/L	N/L	N/L	May be involved in nephrotic syndrome	N/L
Angiotensinogen	AGT SERPINA8	P01019	https://www.uniprot.org/uniprot/P01019	ALQDQLVLVAAK	Essential hypertension (EHT)	A condition in which blood pressure is consistently higher than normal with no identifiable cause
N/L	N/L	N/L	N/L	N/L	Renal tubular dysgenesis (RTD)	Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype).
Antithrombin-III	SERPINC1 AT3 PRO0309	P01008	https://www.uniprot.org/uniprot/P01008	DDLYVSDAFHK	DISEASE: Antithrombin III deficiency (AT3D)	An important risk factor for hereditary thrombophilia, a hemostatic disorder characterized by a tendency to recurrent thrombosis. Antithrombin-III deficiency is classified into 4 types. Type I: characterized by a 50% decrease in antigenic and functional levels. Type II: has defects affecting the thrombin-binding domain. Type III: alteration of the heparin-binding domain. Plasma AT-III antigen levels are normal in type II and III. Type IV: consists of miscellaneous group of unclassifiable mutations.
Apolipoprotein A-I	APOA1	P02647	https://www.uniprot.org/uniprot/P02647	ATEHLSTLSEK	High density lipoprotein deficiency 2 (HDLD2)	Inherited as autosomal dominant trait. It is characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and a reduction in cellular cholesterol efflux.
N/L	N/L	N/L	N/L	N/L	High density lipoprotein deficiency 1 (HDLD1)	Recessive disorder characterized by absence of high density lipoprotein (HDL) cholesterol from plasma, accumulation of cholesteryl esters, premature coronary artery disease (CAD), hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness
N/L	N/L	N/L	N/L	N/L	Amyloidosis 8 (AMYL8)	A form of hereditary generalized amyloidosis. Clinical features include extensive visceral amyloid deposits, renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. There is no involvement of the nervous system.
N/L	N/L	N/L	N/L	N/L	APOA1 mutations may be involved in the pathogenesis of amyloid polyneuropathy-nephropathy Iowa type, also known as amyloidosis van Allen type or familial amyloid polyneuropathy type III	N/L
Apolipoprotein A-II	APOA2	P02652	https://www.uniprot.org/uniprot/P02652	SPELQAEAK	0	N/L
Apolipoprotein A-IV	APOA4	P06727	https://www.uniprot.org/uniprot/P06727	LGEVNTYAGDLQK	0	N/L
Apolipoprotein B-100	APOB	P04114	https://www.uniprot.org/uniprot/P04114	FPEVDVLTK	Hypobetalipoproteinemia, familial, 1 (FHBL1)	A disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Clinical presentation may vary from no symptoms to severe gastrointestinal and neurological dysfunction similar to abetalipoproteinemia. Most cases of FHBL1 result from nonsense mutations in the APOB gene that lead to a premature stop codon, which generate prematurely truncated apo B protein products
N/L	N/L	N/L	N/L	N/L	Familial ligand-defective apolipoprotein B-100	Dominantly inherited disorder of lipoprotein metabolism leading to hypercholesterolemia and increased proneness to coronary artery disease (CAD). The plasma cholesterol levels are dramatically elevated due to impaired clearance of LDL particles by defective APOB/E receptors.
N/L	N/L	N/L	N/L	N/L	Note=Defects in APOB associated with defects in other genes (polygenic) can contribute to hypocholesterolemia.	N/L
Apolipoprotein C-I	APOC1	P02654	https://www.uniprot.org/uniprot/P02654	EWFSETFQK	0	N/L
Apolipoprotein C-II	APOC2 APC2	P02655	https://www.uniprot.org/uniprot/P02655	TYLPAVDEK	Hyperlipoproteinemia 1B (HLPP1B)	Autosomal recessive trait characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis
Apolipoprotein C-III	APOC3	P02656	https://www.uniprot.org/uniprot/P02656	GWVTDGFSSLK	Hyperalphalipoproteinemia 2 (HALP2)	A condition characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels..
Apolipoprotein C-IV	APOC4	P55056	https://www.uniprot.org/uniprot/P55056	ELLETVVNR	0	N/L
Apolipoprotein D	APOD	P05090	https://www.uniprot.org/uniprot/P05090	NILTSNNIDVK	0	N/L
Apolipoprotein E	APOE	P02649	https://www.uniprot.org/uniprot/P02649	LGPLVEQGR	Hyperlipoproteinemia 3 (HLPP3) .	A disorder characterized by the accumulation of intermediate-density lipoprotein particles (IDL or broad-beta-lipoprotein) rich in cholesterol. Clinical features include xanthomas, yellowish lipid deposits in the palmar crease, or less specific on tendons and on elbows. The disorder rarely manifests before the third decade in men. In women, it is usually expressed only after the menopause. The influence of APOE on lipid levels is often suggested to have major implications for the risk of coronary artery disease (CAD)
N/L	N/L	N/L	N/L	N/L	Alzheimer disease 2	A late-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits.
N/L	N/L	N/L	N/L	N/L	Sea-blue histiocyte disease	Characterized by splenomegaly, mild thrombocytopenia and, in the bone marrow, numerous histiocytes containing cytoplasmic granules which stain bright blue with the usual hematologic stains. The syndrome is the consequence of an inherited metabolic defect analogous to Gaucher disease and other sphingolipidoses
N/L	N/L	N/L	N/L	N/L	Lipoprotein glomerulopathy (LPG)	Uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries.
N/L	N/L	N/L	N/L	N/L	Familial hypercholesterolemia (FH)	A common autosomal dominant disorder characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease
Apolipoprotein F	APOF	Q13790	https://www.uniprot.org/uniprot/Q13790	SGVQQLIQYYQDQK	0	N/L
Apolipoprotein L1	APOL1 APOL	O14791	https://www.uniprot.org/uniprot/O14791	VAQELEEK	DISEASE: Focal segmental glomerulosclerosis 4	A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation.
Apolipoprotein M	APOM G3A NG20 HSPC336	O95445	https://www.uniprot.org/uniprot/O95445	AFLLTPR	0	N/L
Apolipoprotein(a)	LPA	P08519	https://www.uniprot.org/uniprot/P08519	GTYSTTVTGR	0	N/L
Aromatase	CYP19A1 ARO1 CYAR CYP19	P11511	https://www.uniprot.org/uniprot/P11511	NMLEMIFTPR	Aromatase excess syndrome (AEXS)	An autosomal dominant disorder characterized by increased extraglandular aromatization of steroids that presents with heterosexual precocity in males and isosexual precocity in females.
N/L	N/L	N/L	N/L	N/L	Aromatase deficiency (AROD)	A rare disease in which fetal androgens are not converted into estrogens due to placental aromatase deficiency. Thus, pregnant women exhibit a hirsutism, which spontaneously resolves after post-partum. At birth, female babies present with pseudohermaphroditism due to virilization of extern genital organs. In adult females, manifestations include delay of puberty, breast hypoplasia and primary amenorrhoea with multicystic ovaries.
Atrial natriuretic peptide receptor 1	NPR1 ANPRA	P16066	https://www.uniprot.org/uniprot/P16066	ITDYGLESFR	0	N/L
Attractin	ATRN KIAA0548 MGCA	O75882	https://www.uniprot.org/uniprot/O75882	SVNNVVVR	0	N/L
Autism susceptibility gene 2 protein	AUTS2 KIAA0442	Q8WXX7	https://www.uniprot.org/uniprot/Q8WXX7	ALSLASSSGSDK	Mental retardation, autosomal dominant 26 (MRD26)	A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD26 features include autism, short stature, microcephaly, cerebral palsy, and facial dysmorphisms
B-cell scaffold protein with ankyrin repeats	BANK1	Q8NDB2	https://www.uniprot.org/uniprot/Q8NDB2	LTIVHHPGGK	Systemic lupus erythematosus (SLE)	A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system.
Beta-2-glycoprotein 1	APOH B2G1	P02749	https://www.uniprot.org/uniprot/P02749	ATVVYQGER	0	N/L
Beta-2-microglobulin	B2M CDABP0092 HDCMA22P	P61769	https://www.uniprot.org/uniprot/P61769	VNHVTLSQPK	Immunodeficiency 43 (IMD43)	A disorder characterized by marked reduction in serum concentrations of immunoglobulins and albumin, and hypoproteinemia due to hypercatabolism. Patients may suffer from recurrent respiratory tract infections and severe skin disease
N/L	N/L	N/L	N/L	N/L	DISEASE: Amyloidosis 8 (AMYL8)	A form of hereditary generalized amyloidosis. Clinical features include extensive visceral amyloid deposits, renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. There is no involvement of the nervous system.
Beta-Ala-His dipeptidase	CNDP1 CN1 CPGL2 UNQ1915/PRO4380	Q96KN2	https://www.uniprot.org/uniprot/Q96KN2	ALEQDLPVNIK	0	N/L
Beta-nerve growth factor	NGF NGFB	P01138	https://www.uniprot.org/uniprot/P01138	TTATDIK	Neuropathy, hereditary sensory and autonomic, 5 (HSAN5)	A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN5 patients manifest loss of pain perception and impaired temperature sensitivity, ulcers, and in some cases self-mutilation. The autonomic involvement is variable.
Biotinidase	BTD	P43251	https://www.uniprot.org/uniprot/P43251	SHLIIAQVAK	Biotinidase deficiency (BTD deficiency)	A juvenile form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. Biotinidase deficiency is characterized by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may occur.
C-reactive protein	CRP PTX1	P02741	https://www.uniprot.org/uniprot/P02741	AFVFPK	0	N/L
C4b-binding protein alpha chain	C4BPA C4BP	P04003	https://www.uniprot.org/uniprot/P04003	EDVYVVGTVLR	0	N/L
Cadherin-13	CDH13 CDHH	P55290	https://www.uniprot.org/uniprot/P55290	INENTGSVSVTR	0	N/L
Cadherin-5	CDH5	P33151	https://www.uniprot.org/uniprot/P33151	ELDSTGTPTGK	0	N/L
Calcitonin	CALCA CALC1	P01258	https://www.uniprot.org/uniprot/P01258	FHTFPQTAIGVGAPGK	0	N/L
Calcitonin gene-related peptide 1	CALCA CALC1	P06881	https://www.uniprot.org/uniprot/P06881	NNFVPTNVGSK	0	N/L
Calponin-1	CNN1	P51911	https://www.uniprot.org/uniprot/P51911	VNVGVK	0	N/L
Carbonic anhydrase 1	CA1	P00915	https://www.uniprot.org/uniprot/P00915	VLDALQAIK	0	N/L
Carboxypeptidase B2	CPB2	Q96IY4	https://www.uniprot.org/uniprot/Q96IY4	IAWHVIR	0	N/L
Carboxypeptidase N catalytic chain	CPN1 ACBP	P15169	https://www.uniprot.org/uniprot/P15169	SIPQVSPVR	DISEASE: Carboxypeptidase N deficiency (CPND)	Patients affected present some combination of angioedema or chronic urticaria, as well as hay fever or asthma, and have also slightly depressed serum carboxy peptidase N, suggestive of autosomal recessive inheritance of this disorder.
Carboxypeptidase N subunit 2	CPN2 ACBP	P22792	https://www.uniprot.org/uniprot/P22792	AGGSWDLAVQER	0	N/L
Cartilage acidic protein 1	CRTAC1 ASPIC1 CEP68	Q9NQ79	https://www.uniprot.org/uniprot/Q9NQ79	GVASLFAGR	0	N/L
Cathelicidin antimicrobial peptide	CAMP CAP18 FALL39 HSD26	P49913	https://www.uniprot.org/uniprot/P49913	AIDGINQR	0	N/L
Cation-independent mannose-6-phosphate receptor	IGF2R MPRI	P11717	https://www.uniprot.org/uniprot/P11717	GHQAFDVGQPR	0	N/L
CD40 ligand	CD40LG CD40L TNFSF5 TRAP	P29965	https://www.uniprot.org/uniprot/P29965	SQFEGFVK	Immunodeficiency with hyper-IgM, type 1 (HIGM1)	Immunoglobulin isotype switch defect characterized by elevated concentrations of serum IgM and decreased amounts of all other isotypes. Affected males present at an early age (usually within the first year of life) recurrent bacterial and opportunistic infections, including Pneumocystis carinii pneumonia and intractable diarrhea due to cryptosporidium infection. Despite substitution treatment with intravenous immunoglobulin, the overall prognosis is rather poor, with a death rate of about 10% before adolescence.
CD44 antigen	CD44 LHR MDU2 MDU3 MIC4	P16070	https://www.uniprot.org/uniprot/P16070	YGFIEGHVVIPR	0	N/L
CD5 antigen-like	CD5L API6 UNQ203/PRO229	O43866	https://www.uniprot.org/uniprot/O43866	LVGGLHR	0	N/L
Actin-depolymerizing factor	N/L	B7Z2X4	https://www.uniprot.org/uniprot/B7Z2X4	EGGQTAPASTR	NA	N/L
Ceruloplasmin	CP	P00450	https://www.uniprot.org/uniprot/P00450	IYHSHIDAPK	Aceruloplasminemia (ACERULOP)	An autosomal recessive disorder of iron metabolism characterized by iron accumulation in the brain as well as visceral organs. Clinical features consist of the triad of retinal degeneration, diabetes mellitus and neurological disturbances
N/L	N/L	N/L	N/L	N/L	Note=Ceruloplasmin levels are decreased in Wilson disease, in which copper cannot be incorporated into ceruloplasmin in liver because of defects in the copper-transporting ATPase 2.	N/L
Cholesteryl ester transfer protein	CETP	P11597	https://www.uniprot.org/uniprot/P11597	GVSLFDIINPEIITR	Hyperalphalipoproteinemia 1 (HALP1)	A condition characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels.
Cholinesterase	BCHE CHE1	P06276	https://www.uniprot.org/uniprot/P06276	YLTLNTESTR	Butyrylcholinesterase deficiency (BCHED)	An autosomal recessive metabolic condition characterized by increased sensitivity to certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium. BCHED results in slower hydrolysis of these drugs and, consequently, a prolonged neuromuscular block, leading to apnea. The duration of the prolonged apnea varies significantly depending on the extent of the enzyme deficiency
Chromogranin-A	CHGA	P10645	https://www.uniprot.org/uniprot/P10645	ELQDLALQGAK	0	N/L
Claudin-5	CLDN5 AWAL TMVCF	O00501	https://www.uniprot.org/uniprot/O00501	PDLSFPVK	0	N/L
Clusterin	CLU APOJ CLI KUB1 AAG4	P10909	https://www.uniprot.org/uniprot/P10909	ELDESLQVAER	0	N/L
Coagulation factor IX	F9	P00740	https://www.uniprot.org/uniprot/P00740	SALVLQYLR	Hemophilia B (HEMB)	An X-linked blood coagulation disorder characterized by a permanent tendency to hemorrhage, due to factor IX deficiency. It is phenotypically similar to hemophilia A, but patients present with fewer symptoms. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma
N/L	N/L	N/L	N/L	N/L	Note=Mutations in position 43 (Oxford-3, San Dimas) and 46 (Cambridge) prevents cleavage of the propeptide. Mutation in position 93 (Alabama) probably fails to bind to cell membranes . Mutation in position 191 (Chapel-Hill) or in position 226 (Nagoya or Hilo) prevent cleavage of the activation peptide	N/L
N/L	N/L	N/L	N/L	N/L	Thrombophilia, X-linked, due to factor IX defect (THPH8)	A hemostatic disorder characterized by a tendency to thrombosis.
Coagulation factor V	F5	P12259	https://www.uniprot.org/uniprot/P12259	AEVDDVIQVR	Factor V deficiency (FA5D) D	A blood coagulation disorder leading to a hemorrhagic diathesis known as parahemophilia.
N/L	N/L	N/L	N/L	N/L	Thrombophilia due to activated protein C resistance (THPH2)	A hemostatic disorder due to defective degradation of factor V by activated protein C. It is characterized by a poor anticoagulant response to activated protein C resulting in tendency to thrombosis.
N/L	N/L	N/L	N/L	N/L	Budd-Chiari syndrome (BDCHS)	A syndrome caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. Obstructions are generally caused by thrombosis and lead to hepatic congestion and ischemic necrosis. Clinical manifestations observed in the majority of patients include hepatomegaly, right upper quadrant pain and abdominal ascites. Budd-Chiari syndrome is associated with a combination of disease states including primary myeloproliferative syndromes and thrombophilia due to factor V Leiden, protein C deficiency and antithrombin III deficiency. Budd-Chiari syndrome is a rare but typical complication in patients with polycythemia vera
N/L	N/L	N/L	N/L	N/L	Ischemic stroke (ISCHSTR)	A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors
N/L	N/L	N/L	N/L	N/L	Pregnancy loss, recurrent, 1 (RPRGL1)	A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions.
Coagulation factor VII	F7	P08709	https://www.uniprot.org/uniprot/P08709	VSQYIEWLQK	Factor VII deficiency (FA7D)	A hemorrhagic disease with variable presentation. The clinical picture can be very severe, with the early occurrence of intracerebral hemorrhages or repeated hemarthroses, or, in contrast, moderate with cutaneous-mucosal hemorrhages (epistaxis, menorrhagia) or hemorrhages provoked by a surgical intervention. Finally, numerous subjects are completely asymptomatic despite very low factor VII levels.
Coagulation factor VIII	F8 F8C	P00451	https://www.uniprot.org/uniprot/P00451	LHPTHYSIR	Hemophilia A (HEMA)	A disorder of blood coagulation characterized by a permanent tendency to hemorrhage
Coagulation factor X	F10	P00742	https://www.uniprot.org/uniprot/P00742	MLEVPYVDR	Factor X deficiency (FA10D)	A hemorrhagic disease with variable presentation. Affected individuals can manifest prolonged nasal and mucosal hemorrhage, menorrhagia, hematuria, and occasionally hemarthrosis. Some patients do not have clinical bleeding diathesis.
Coagulation factor XI	F11	P03951	https://www.uniprot.org/uniprot/P03951	TSESGLPSTR	Factor XI deficiency (FA11D)	A hemorrhagic disease characterized by reduced levels and activity of factor XI resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. Patients usually do not present spontaneous bleeding but women can present with menorrhagia. Hemorrhages are usually moderate.
Coagulation factor XII	F12	P00748	https://www.uniprot.org/uniprot/P00748	EQPPSLTR	Factor XII deficiency (FA12D)	An asymptomatic anomaly of in vitro blood coagulation. Its diagnosis is based on finding a low plasma activity of the factor in coagulating assays. It is usually only accidentally discovered through pre-operative blood tests. Factor XII deficiency is divided into two categories, a cross-reacting material (CRM)-negative group (negative F12 antigen detection) and a CRM-positive group (positive F12 antigen detection)
N/L	N/L	N/L	N/L	N/L	Hereditary angioedema 3 (HAE3)	An hereditary angioedema occurring only in women. Hereditary angioedema is an autosomal dominant disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. Hereditary angioedema type 3 differs from types 1 and 2 in that both concentration and function of C1 esterase inhibitor are normal. Hereditary angioedema type 3 is precipitated or worsened by high estrogen levels (e.g., during pregnancy or treatment with oral contraceptives)
Coagulation factor XIII A chain	F13A1 F13A	P00488	https://www.uniprot.org/uniprot/P00488	GTYIPVPIVSELQSGK	Factor XIII subunit A deficiency (FA13AD)	An autosomal recessive hematologic disorder characterized by a life-long bleeding tendency, impaired wound healing and spontaneous abortion in affected women.
Coagulation factor XIII B chain	F13B	P05160	https://www.uniprot.org/uniprot/P05160	IQTHSTTYR	Factor XIII subunit B deficiency (FA13BD)	An autosomal recessive hematologic disorder characterized by a life-long bleeding tendency, impaired wound healing and spontaneous abortion in affected women.
Collagen alpha-1(I) chain	COL1A1	P02452	https://www.uniprot.org/uniprot/P02452	GVVGLPGQR	Caffey disease (CAFFD)	Caffey disease (CAFFD) [MIM:114000]: Characterized by an infantile episode of massive subperiosteal new bone formation that typically involves the diaphyses of the long bones, mandible, and clavicles. The involved bones may also appear inflamed, with painful swelling and systemic fever often accompanying the illness. The bone changes usually begin before 5 months of age and resolve before 2 years of age. {ECO:0000269\|PubMed:15864348}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
N/L	N/L	N/L	N/L	N/L	Ehlers-Danlos syndrome, classic type, 1 (EDSCL1)	A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are joint hypermobility and dislocation, and fragile, bruisable skin.
N/L	N/L	N/L	N/L	N/L	Ehlers-Danlos syndrome, arthrochalasia type, 1 (EDSARTH1)	A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSARTH1 is an autosomal dominant form characterized by frequent congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement.
N/L	N/L	N/L	N/L	N/L	Osteogenesis imperfecta 1 (OI1)	An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI1 is a non-deforming form with normal height or mild short stature, and no dentinogenesis imperfecta.
N/L	N/L	N/L	N/L	N/L	Osteogenesis imperfecta 2 (OI2)	An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI2 is characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency.
N/L	N/L	N/L	N/L	N/L	Osteogenesis imperfecta 3 (OI3)	An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI3 is characterized by progressively deforming bones, very short stature, a triangular face, severe scoliosis, grayish sclera and dentinogenesis imperfecta
N/L	N/L	N/L	N/L	N/L	Osteogenesis imperfecta 4 (OI4)	An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI4 is characterized by moderately short stature, mild to moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta.
N/L	N/L	N/L	N/L	N/L	Osteoporosis (OSTEOP)	A systemic skeletal disorder characterized by decreased bone mass and deterioration of bone microarchitecture without alteration in the composition of bone. The result is fragile bones and an increased risk of fractures, even after minimal trauma. Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs
Collagen alpha-1(III) chain	COL3A1	P02461	https://www.uniprot.org/uniprot/P02461	GGAGPPGPEGGK	Ehlers-Danlos syndrome, vascular type (EDSVASC)	A severe form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSVASC is an autosomal dominant disease characterized by joint and dermal manifestations as in other forms of the syndrome, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas.
Collagen alpha-1(XVIII) chain	COL18A1	P39060	https://www.uniprot.org/uniprot/P39060	AVGLAGTFR	Knobloch syndrome 1 (KNO1)	A developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia.
Collagen alpha-2(I) chain	COL1A2	P08123	https://www.uniprot.org/uniprot/P08123	GVVGPQGAR	Ehlers-Danlos syndrome, arthrochalasia type, 2 (EDSARTH2)	A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSARTH2 is an autosomal dominant condition characterized by frequent congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement.
N/L	N/L	N/L	N/L	N/L	Osteogenesis imperfecta 1 (OI1)	An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI1 is a non-deforming form with normal height or mild short stature, and no dentinogenesis imperfecta.
N/L	N/L	N/L	N/L	N/L	Osteogenesis imperfecta 2 (OI2)	An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI2 is characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency.
N/L	N/L	N/L	N/L	N/L	Ehlers-Danlos syndrome, cardiac valvular type (EDSCV	A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSCV is an autosomal recessive disease characterized by mitral valve prolapse and insufficiency, mitral regurgitation, and aortic insufficiency, in addition to joint laxity, skin hyperextensibility and friability, and abnormal scar formation.
N/L	N/L	N/L	N/L	N/L	Osteogenesis imperfecta 3 (OI3)	An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI3 is characterized by progressively deforming bones, very short stature, a triangular face, severe scoliosis, grayish sclera and dentinogenesis imperfecta.
N/L	N/L	N/L	N/L	N/L	Osteogenesis imperfecta 4 (OI4)	An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI4 is characterized by moderately short stature, mild to moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta.
Complement C1q subcomponent subunit A	C1QA	P02745	https://www.uniprot.org/uniprot/P02745	PAFSAIR	Complement component C1q deficiency (C1QD)	A disorder caused by impaired activation of the complement classical pathway. It generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis. Note=The disease is caused by mutations affecting the gene represented in this entry.
Complement C1q subcomponent subunit B	C1QB	P02746	https://www.uniprot.org/uniprot/P02746	IAFSATR	Complement component C1q deficiency (C1QD)	A disorder caused by impaired activation of the complement classical pathway. It generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis. Note=The disease is caused by mutations affecting the gene represented in this entry.
Complement C1q subcomponent subunit C	C1QC C1QG	P02747	https://www.uniprot.org/uniprot/P02747	FQSVFTVTR	Complement component C1q deficiency (C1QD)	A disorder caused by impaired activation of the complement classical pathway. It generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis. Note=The disease is caused by mutations affecting the gene represented in this entry.
Complement C1r subcomponent	C1R	P00736	https://www.uniprot.org/uniprot/P00736	GLTLHLK	Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1)	A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSPD1 is characterized by the association of typical features of Ehlers-Danlos syndrome with gingival recession and severe early-onset periodontal disease, leading to premature loss of permanent teeth. EDSPD1 inheritance is autosomal dominant.
Complement C1r subcomponent-like protein	C1RL C1RL1 C1RLP CLSPA	Q9NZP8	https://www.uniprot.org/uniprot/Q9NZP8	VVVHPDYR	0	N/L
Complement C1s subcomponent	C1S	P09871	https://www.uniprot.org/uniprot/P09871	TNFDNDIALVR	Complement component C1s deficiency (C1SD)	A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.
N/L	N/L	N/L	N/L	N/L	Ehlers-Danlos syndrome, periodontal type, 2 (EDSPD2)	A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSPD2 is characterized by the association of typical features of Ehlers-Danlos syndrome with gingival recession and severe early-onset periodontal disease, leading to premature loss of permanent teeth. EDSPD2 transmission pattern is consistent with autosomal dominant inheritance.
Complement C2	C2	P06681	https://www.uniprot.org/uniprot/P06681	HAFILQDTK	Complement component 2 deficiency (C2D)	A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus erythematosus. Skin and joint manifestations are common and renal disease is relatively rare. Patients with complement component 2 deficiency are also reported to have recurrent invasive infections.
Complement C3	C3 CPAMD1	P01024	https://www.uniprot.org/uniprot/P01024	TGLQEVEVK	Complement component 3 deficiency (C3D)	A rare defect of the complement classical pathway. Patients develop recurrent, severe, pyogenic infections because of ineffective opsonization of pathogens. Some patients may also develop autoimmune disorders, such as arthralgia and vasculitic rashes, lupus-like syndrome and membranoproliferative glomerulonephritis. ; DISEASE:
N/L	N/L	N/L	N/L	N/L	Macular degeneration, age-related, 9 (ARMD9)	A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.
N/L	N/L	N/L	N/L	N/L	Hemolytic uremic syndrome atypical 5 (AHUS5)	An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease.
N/L	N/L	N/L	N/L	N/L	Note=Increased levels of C3 and its cleavage product ASP, are associated with obesity, diabetes and coronary heart disease. Short-term endurance training reduces baseline ASP levels and subsequently fat storage.	N/L
Complement C5	C5 CPAMD4	P01031	https://www.uniprot.org/uniprot/P01031	VFQFLEK	Complement component 5 deficiency (C5D)	: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis
N/L	N/L	N/L	N/L	N/L	Note=An association study of C5 haplotypes and genotypes in individuals with chronic hepatitis C virus infection shows that individuals homozygous for the C5_1 haplotype have a significantly higher stage of liver fibrosis than individuals carrying at least 1 other allele	N/L
Complement component C6	C6	P13671	https://www.uniprot.org/uniprot/P13671	DLHLSDVFLK	Complement component 6 deficiency (C6D	A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis.
Complement component C7	C7	P10643	https://www.uniprot.org/uniprot/P10643	AASGTQNNVLR	Complement component 7 deficiency (C7D)	A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis.
Complement component C8 alpha chain	C8A	P07357	https://www.uniprot.org/uniprot/P07357	MESLGITSR	Complement component 8 deficiency, 1 (C8D1)	A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis.
Complement component C8 beta chain	C8B	P07358	https://www.uniprot.org/uniprot/P07358	SDLEVAHYK	Complement component 8 deficiency, 2 (C8D2)	A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis.
Complement component C9	C9	P02748	https://www.uniprot.org/uniprot/P02748	LSPIYNLVPVK	Complement component 9 deficiency (C9D)	A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. Some patients may develop dermatomyositis.
N/L	N/L	N/L	N/L	N/L	Macular degeneration, age-related, 15 (ARMD15)	A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.
Complement factor B	CFB BF BFD	P00751	https://www.uniprot.org/uniprot/P00751	EELLPAQDIK	Hemolytic uremic syndrome atypical 4 (AHUS4)	An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease.
N/L	N/L	N/L	N/L	N/L	Complement factor B deficiency (CFBD)	An immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway.
Complement factor D	CFD DF PFD	P00746	https://www.uniprot.org/uniprot/P00746	THHDGAITER	Complement factor D deficiency (CFDD)	An immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway. {
Complement factor H	CFH HF HF1 HF2	P08603	https://www.uniprot.org/uniprot/P08603	SSQESYAHGTK	Basal laminar drusen (BLD)	DDrusen are extracellular deposits that accumulate below the retinal pigment epithelium on Bruch membrane. Basal laminar drusen refers to an early adult-onset drusen phenotype that shows a pattern of uniform small, slightly raised yellow subretinal nodules randomly scattered in the macula. In later stages, these drusen often become more numerous, with clustered groups of drusen scattered throughout the retina. In time these small basal laminar drusen may expand and ultimately lead to a serous pigment epithelial detachment of the macula that may result in vision loss.
N/L	N/L	N/L	N/L	N/L	Complement factor H deficiency (CFHD)	A disorder that can manifest as several different phenotypes, including asymptomatic, recurrent bacterial infections, and renal failure. Laboratory features usually include decreased serum levels of factor H, complement component C3, and a decrease in other terminal complement components, indicating activation of the alternative complement pathway. It is associated with a number of renal diseases with variable clinical presentation and progression, including membranoproliferative glomerulonephritis and atypical hemolytic uremic syndrome.
N/L	N/L	N/L	N/L	N/L	Hemolytic uremic syndrome atypical 1 (AHUS1)	An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease.
N/L	N/L	N/L	N/L	N/L	Macular degeneration, age-related, 4 (ARMD4)	A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.
Complement factor I	CFI IF	P05156	https://www.uniprot.org/uniprot/P05156	VFSLQWGEVK	Hemolytic uremic syndrome atypical 3 (AHUS3)	An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease..
N/L	N/L	N/L	N/L	N/L	Complement factor I deficiency (CFI deficiency)	Autosomal recessive condition associated with a propensity to pyogenic infections. ;
N/L	N/L	N/L	N/L	N/L	Macular degeneration, age-related, 13 (ARMD13)	A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane
Complement C4-A	C4A CO4 CPAMD2	P0C0L4	https://www.uniprot.org/uniprot/P0C0L4	VLSLAQEQVGGSPEK	Complement component 4A deficiency (C4AD)	A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus with or without associated glomerulonephritis
N/L	N/L	N/L	N/L	N/L	Systemic lupus erythematosus (SLE)	A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.
N/L	N/L	N/L	N/L	N/L	N/L	Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Interindividual copy-number variation (CNV) of complement component C4 and associated polymorphisms result in different susceptibilities to SLE. The risk of SLE susceptibility has been shown to be significantly increased among subjects with only two copies of total C4. A high copy number is a protective factor against SLE.
Complement C4-B	C4B CO4 CPAMD3; C4B_2	P0C0L5	https://www.uniprot.org/uniprot/P0C0L5	N/L	Systemic lupus erythematosus (SLE)	A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.
N/L	N/L	N/L	N/L	N/L	Complement component 4B deficiency (C4BD)	A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus with or without associated glomerulonephrit
Corticosteroid-binding globulin	SERPINA6 CBG	P08185	https://www.uniprot.org/uniprot/P08185	WSAGLTSSQVDLYIPK	Corticosteroid-binding globulin deficiency (CBG deficiency)	Extremely rare hereditary disorder characterized by reduced corticosteroid-binding capacity with normal or low plasma corticosteroid-binding globulin concentration, and normal or low basal cortisol levels associated with hypo/hypertension and muscle fatigue
Creatine kinase B-type	CKB CKBB	P12277	https://www.uniprot.org/uniprot/P12277	DLFDPIIEDR	0	N/L
Creatine kinase M-type	CKM CKMM	P06732	https://www.uniprot.org/uniprot/P06732	FEEILTR	0	N/L
Cystatin-C	CST3	P01034	https://www.uniprot.org/uniprot/P01034	ALDFAVGEYNK	DISEASE: Amyloidosis 6 (AMYL6)	A hereditary generalized amyloidosis due to cystatin C amyloid deposition. Cystatin C amyloid accumulates in the walls of arteries, arterioles, and sometimes capillaries and veins of the brain, and in various organs including lymphoid tissue, spleen, salivary glands, and seminal vesicles. Amyloid deposition in the cerebral vessels results in cerebral amyloid angiopathy, cerebral hemorrhage and premature stroke. Cystatin C levels in the cerebrospinal fluid are abnormally low.
N/L	N/L	N/L	N/L	N/L	Macular degeneration, age-related, 11 (ARMD11)	A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane
Desmoplakin	DSP	P15924	https://www.uniprot.org/uniprot/P15924	AELIVQPELK	Keratoderma, palmoplantar, striate 2 (SPPK2) [MIM:612908]	: A dermatological disorder characterized by thickening of the skin on the palms (linear pattern) and the soles (island-like pattern) and flexor aspect of the fingers. Abnormalities of the nails, the teeth and the hair are rarely present.
N/L	N/L	N/L	N/L	N/L	Cardiomyopathy, dilated, with woolly hair and keratoderma (DCWHK)	An autosomal recessive cardiocutaneous syndrome characterized by a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy.
N/L	N/L	N/L	N/L	N/L	Arrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8)	A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.
N/L	N/L	N/L	N/L	N/L	Skin fragility-woolly hair syndrome (SFWHS)	An autosomal recessive genodermatosis characterized by skin fragility with blistering, focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and limbs, and woolly hair with varying degrees of alopecia
N/L	N/L	N/L	N/L	N/L	Epidermolysis bullosa, lethal acantholytic (EBLA)	A form of epidermolysis bullosa characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus.
N/L	N/L	N/L	N/L	N/L	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis (DCWHKTA)	A cardiocutaneous syndrome characterized by biventricular dilated cardiomyopathy, hyperkeratosis, woolly hair, palmoplantar keratoderma, and hypo/oligodontia.
Di-N-acetylchitobiase	CTBS CTB	Q01459	https://www.uniprot.org/uniprot/Q01459	ATYIQNYR	0	N/L
Dickkopf-related protein 1 and 2	DKK1 \| DKK2	O94907\|Q9UBU2	https://www.uniprot.org/uniprot/O94907\|Q9UBU2	GSHGLEIFQR	0	N/L
E-selectin	SELE ELAM1	P16581	https://www.uniprot.org/uniprot/P16581	YTHLVAIQNK	0	N/L
Elastin	ELN	P15502	https://www.uniprot.org/uniprot/P15502	LPGGYGLPYTTGK	Cutis laxa, autosomal dominant, 1 (ADCL1)	A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema.
N/L	N/L	N/L	N/L	N/L	Supravalvular aortic stenosis (SVAS)	Congenital narrowing of the ascending aorta which can occur sporadically, as an autosomal dominant condition, or as one component of Williams-Beuren syndrome
N/L	N/L	N/L	N/L	N/L	N/L	Note=ELN is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of ELN may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease
Endothelial lipase	LIPG UNQ387/PRO719	Q9Y5X9	https://www.uniprot.org/uniprot/Q9Y5X9	LVSALHTR	0	N/L
Endothelial protein C receptor	PROCR EPCR	Q9UNN8	https://www.uniprot.org/uniprot/Q9UNN8	TLAFPLTIR	0	N/L
Epidermal growth factor receptor	EGFR ERBB ERBB1 HER1	P00533	https://www.uniprot.org/uniprot/P00533	IPLENLQIIR	Lung cancer (LNCR)	A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis
N/L	N/L	N/L	N/L	N/L	Inflammatory skin and bowel disease, neonatal, 2 (NISBD2)	A disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. The skin lesions involve perioral and perianal erythema, psoriasiform erythroderma, with flares of erythema, scaling, and widespread pustules. Gastrointestinal symptoms include malabsorptive diarrhea that is exacerbated by intercurrent gastrointestinal infections. The hair is short or broken, and the eyelashes and eyebrows are wiry and disorganized.
Extracellular matrix protein 1	ECM1	Q16610	https://www.uniprot.org/uniprot/Q16610	NVALVSGDTENAK	Lipoid proteinosis (LiP)	Rare autosomal recessive disorder characterized by generalized thickening of skin, mucosae and certain viscera. Classical features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. Histologically, there is widespread deposition of hyaline material and disruption/reduplication of basement membrane.
Fatty acid-binding protein heart	FABP3 FABP11 MDGI	P05413	https://www.uniprot.org/uniprot/P05413	SLGVGFATR	0	N/L
Ferritin heavy chain	FTH1 FTH FTHL6 OK/SW-cl.84 PIG15	P02794	https://www.uniprot.org/uniprot/P02794	NVNQSLLELHK	Hemochromatosis 5 (HFE5)	A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Note=The disease is caused by mutations affecting the gene represented in this entry. In a Japanese family affected by HFE5, a single point mutation has been detected in the iron-responsive element (IRE) in the 5′-UTR of FTH1 mRNA. This mutation leads to an increased binding affinity for iron regulatory protein and thereby to the efficient suppression of mRNA translation.
Ferritin light chain	FTL	P02792	https://www.uniprot.org/uniprot/P02792	LGGPEAGLGEYLFER	Hyperferritinemia with or without cataract (HRFTC)	An autosomal dominant disease characterized by elevated level of ferritin in serum and tissues, and early-onset bilateral cataract. Cataracts may be subclinical in some patients. ;
N/L	N/L	N/L	N/L	N/L	Neurodegeneration with brain iron accumulation 3 (NBIA3)	A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by a variety of neurological signs including parkinsonism, ataxia, corticospinal signs, mild non-progressive cognitive deficit and episodic psychosis. It is linked with decreased serum ferritin levels.
N/L	N/L	N/L	N/L	N/L	L-ferritin deficiency (LFTD)	A condition characterized by low levels of ferritin in serum and tissues in the absence of other hematological symptoms. Seizures and mild neuropsychologic impairment may manifest in individuals with complete ferritin deficiency.
Fetuin-B	FETUB	Q9UGM5	https://www.uniprot.org/uniprot/Q9UGM5	LVVLPFPK	0	N/L
Fibrinogen alpha chain	FGA	P02671	https://www.uniprot.org/uniprot/P02671	VQHIQLLQK	Congenital afibrinogenemia (CAFBN)	Rare autosomal recessive disorder is characterized by bleeding that varies from mild to severe and by complete absence or extremely low levels of plasma and platelet fibrinogen.
N/L	N/L	N/L	N/L	N/L	Amyloidosis 8 (AMYL8)	A form of hereditary generalized amyloidosis. Clinical features include extensive visceral amyloid deposits, renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. There is no involvement of the nervous system.
N/L	N/L	N/L	N/L	N/L	Dysfibrinogenemia, congenital (DYSFIBRIN	A disorder characterized by qualitative abnormalities (dysfibrinogenemia) of the circulating fibrinogen. Affected individuals are frequently asymptomatic, but some patients have bleeding diathesis, thromboembolic complications, or both. In some cases, dysfibrinogenemia is associated with low circulating fibrinogen levels
Fibrinogen beta chain	FGB	P02675	https://www.uniprot.org/uniprot/P02675	HQLYIDETVNSNIPTNLR	Congenital afibrinogenemia (CAFBN)	Rare autosomal recessive disorder is characterized by bleeding that varies from mild to severe and by complete absence or extremely low levels of plasma and platelet fibrinogen.
N/L	N/L	N/L	N/L	N/L	Dysfibrinogenemia, congenital (DYSFIBRIN	A disorder characterized by qualitative abnormalities (dysfibrinogenemia) of the circulating fibrinogen. Affected individuals are frequently asymptomatic, but some patients have bleeding diathesis, thromboembolic complications, or both. In some cases, dysfibrinogenemia is associated with low circulating fibrinogen levels
Fibrinogen gamma chain	FGG PRO2061	P02679	https://www.uniprot.org/uniprot/P02679	YEASILTHDSSIR	Congenital afibrinogenemia (CAFBN)	Rare autosomal recessive disorder is characterized by bleeding that varies from mild to severe and by complete absence or extremely low levels of plasma and platelet fibrinogen.
N/L	N/L	N/L	N/L	N/L	Dysfibrinogenemia, congenital (DYSFIBRIN	A disorder characterized by qualitative abnormalities (dysfibrinogenemia) of the circulating fibrinogen. Affected individuals are frequently asymptomatic, but some patients have bleeding diathesis, thromboembolic complications, or both. In some cases, dysfibrinogenemia is associated with low circulating fibrinogen levels
Fibronectin	FN1 FN	P02751	https://www.uniprot.org/uniprot/P02751	HTSVQTTSSGSGPFTDVR	Glomerulopathy with fibronectin deposits 2 (GFND2)	Genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life.
N/L	N/L	N/L	N/L	N/L	Spondylometaphyseal dysplasia, corner fracture type (SMDCF)	An autosomal dominant form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDCF is characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures. These corner fractures involve the distal tibia, the ulnar aspect of the distal radius, the proximal humerus, and the proximal femur. They represent irregular ossification at the growth plates and secondary ossification centers
Fibulin-1	FBLN1 PP213	P23142	https://www.uniprot.org/uniprot/P23142	TGYYFDGISR	metacarpal and metatarsal synostoses	A chromosomal aberration involving FBLN1 is found in a complex type of synpolydactyly referred to as 3/3-prime/4 synpolydactyly associated with metacarpal and metatarsal synostoses. Reciprocal translocation t(12;22)(p11.2;q13.3) with RASSF8. Fibroblasts derived from a patient with synpolydactyly displayed alterations in the level of isoform D splice variant incorporated into the ECM and secreted into the conditioned culture medium. By contrast, the expression of isoform C was not perturbed in the patients fibroblasts. Furthermore, no aberrant polypeptides were detected in extracts of cultured patients fibroblasts. The translocation t(12;22) may result in haploinsufficiency of the isoform D splice variant, which could lead to the observed limb malformation. {ECO:0000269\|PubMed:11836357}.; DISEASE: Note=Elevated expression and altered processing of FBLN1 protein is associated with human breast cancer. {
N/L	N/L	N/L	N/L	N/L	Human Breast Cancer	Note=Elevated expression and altered processing of FBLN1 protein is associated with human breast cancer.
Ficolin-2	FCN2 FCNL	Q15485	https://www.uniprot.org/uniprot/Q15485	GTHGSFANGINWK	0	N/L
Ficolin-3	FCN3 FCNH HAKA1	O75636	https://www.uniprot.org/uniprot/O75636	YAVSEAAAHK	Ficolin 3 deficiency (FCN3D)	A disorder characterized by immunodeficiency, recurrent infections, brain abscesses and recurrent warts on the fingers. Affected individuals have normal levels of lymphocytes, normal T-cell responses, and normal antibodies, but a selective deficient antibody response to pneumococcal polysaccharide vaccine
Follistatin-related protein 1	FSTL1 FRP	Q12841	https://www.uniprot.org/uniprot/Q12841	YVQELQK	0	N/L
Fructose-bisphosphate aldolase B	ALDOB ALDB	P05062	https://www.uniprot.org/uniprot/P05062	ALQASALAAWGGK	Hereditary fructose intolerance (HFI)	Autosomal recessive disease that results in an inability to metabolize fructose and related sugars. Complete exclusion of fructose results in dramatic recovery; however, if not treated properly, HFI subjects suffer episodes of hypoglycemia, general ill condition, and risk of death the remainder of life.
Galectin-3	LGALS3 MAC2	P17931	https://www.uniprot.org/uniprot/P17931	IALDFQR	0	N/L
Galectin-3-binding protein	LGALS3BP M2BP	Q08380	https://www.uniprot.org/uniprot/Q08380	SDLAVPSELALLK	0	N/L
Gamma-enolase	ENO2	P09104	https://www.uniprot.org/uniprot/P09104	YITGDQLGALYQDFVR	0	N/L
Gelsolin	GSN	P06396	https://www.uniprot.org/uniprot/P06396	AGALNSNDAFVLK	Amyloidosis 5 (AMYL5)	A hereditary generalized amyloidosis due to gelsolin amyloid deposition. It is typically characterized by cranial neuropathy and lattice corneal dystrophy. Most patients have modest involvement of internal organs, but severe systemic disease can develop in some individuals causing peripheral polyneuropathy, amyloid cardiomyopathy, and nephrotic syndrome leading to renal failure..
Glial fibrillary acidic protein	GFAP	P14136	https://www.uniprot.org/uniprot/P14136	LADVYQAELR	Alexander disease (ALXDRD)	A rare disorder of the central nervous system. The most common form affects infants and young children, and is characterized by progressive failure of central myelination, usually leading to death within the first decade. Infants with Alexander disease develop a leukodystrophy with macrocephaly, seizures, and psychomotor retardation. Patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowly progressive course. Histologically, Alexander disease is characterized by Rosenthal fibers, homogeneous eosinophilic inclusions in astrocytes.
Glutamate receptor ionotropic NMDA 2A	GRIN2A NMDAR2A	Q12879	https://www.uniprot.org/uniprot/Q12879	FSYIPEAK	Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)	A highly variable neurologic disorder with features ranging from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. The disorder encompasses several clinical entities, including Landau-Kleffner syndrome, epileptic encephalopathy with continuous spike and wave during slow-wave sleep, autosomal dominant rolandic epilepsy, mental retardation and speech dyspraxia, and benign epilepsy with centrotemporal spikes.
Glutamate receptor ionotropic NMDA 2B	GRIN2B NMDAR2B	Q13224	https://www.uniprot.org/uniprot/Q13224	EPGGPSFTIGK	Mental retardation, autosomal dominant 6, with or without seizures (MRD6)	A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD6 additional features may include seizures, hypotonia, abnormal movements, such as dystonia, and autistic features
N/L	N/L	N/L	N/L	N/L	Epileptic encephalopathy, early infantile, 27 (EIEE27)	A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent.
N/L	N/L	N/L	N/L	N/L	N/L	A chromosomal aberrations involving GRIN2B has been found in patients with mental retardation. Translocations t(9;12)(p23;p13.1) and t(10;12)(q21.1;p13.1) with a common breakpoint in 12p13.1.
Glutathione peroxidase 3	GPX3 GPXP	P22352	https://www.uniprot.org/uniprot/P22352	QEPGENSEILPTLK	0	N/L
Glutathione S-transferase P	GSTP1 FAEES3 GST3	P09211	https://www.uniprot.org/uniprot/P09211	TLGLYGK	0	N/L
Haptoglobin	HP	P00738	https://www.uniprot.org/uniprot/P00738	DIAPTLTLYVGK	Anhaptoglobinemia (AHP)	A condition characterized by the absence of the serum glycoprotein haptoglobin. Serum levels of haptoglobin vary among normal persons: levels are low in the neonatal period and in the elderly, differ by population, and can be influenced by environmental factors, such as infection. Secondary hypohaptoglobinemia can occur as a consequence of hemolysis, during which haptoglobin binds to free hemoglobin. Congenital haptoglobin deficiency is a risk factor for anaphylactic non-hemolytic transfusion reactions.
Heat shock protein beta-1	HSPB1 HSP27 HSP28	P04792	https://www.uniprot.org/uniprot/P04792	LFDQAFGLPR	Charcot-Marie-Tooth disease 2F (CMT2F)	A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Onset of Charcot-Marie-Tooth disease type 2F is between 15 and 25 years with muscle weakness and atrophy usually beginning in feet and legs (peroneal distribution). Upper limb involvement occurs later.
N/L	N/L	N/L	N/L	N/L	Neuronopathy, distal hereditary motor, 2B (HMN2B)	A neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs
Hemoglobin subunit alpha	HBA1; HBA2	P69905	https://www.uniprot.org/uniprot/P69905	VGAHAGEYGAEALER	Heinz body anemias (HEIBAN)	Form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency. . Note=The disease is caused by mutations affecting the gene represented in this entry.
N/L	N/L	N/L	N/L	N/L	Alpha-thalassemia (A-THAL)	A form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of alpha-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. The level of alpha chain production can range from none to very nearly normal levels. Deletion of both copies of each of the two alpha-globin genes causes alpha(0)-thalassemia, also known as homozygous alpha thalassemia. Due to the complete absence of alpha chains, the predominant fetal hemoglobin is a tetramer of gamma-chains (Bart hemoglobin) that has essentially no oxygen carrying capacity. This causes oxygen starvation in the fetal tissues leading to prenatal lethality or early neonatal death. The loss of two alpha genes results in mild alpha-thalassemia, also known as heterozygous alpha-thalassemia. Affected individuals have small red cells and a mild anemia (microcytosis). If three of the four alpha-globin genes are functional, individuals are completely asymptomatic. Some rare forms of alpha-thalassemia are due to point mutations (non-deletional alpha-thalassemia)
N/L	N/L	N/L	N/L	N/L	non-immune hydrops fetalis	Note=Alpha(0)-thalassemia is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders
N/L	N/L	N/L	N/L	N/L	Hemoglobin H disease (HBH)	A form of alpha-thalassemia due to the loss of three alpha genes. This results in high levels of a tetramer of four beta chains (hemoglobin H), causing a severe and life-threatening anemia. Untreated, most patients die in childhood or early adolescence.
Hemopexin	HPX	P02790	https://www.uniprot.org/uniprot/P02790	NFPSPVDAAFR	0	N/L
Heparin cofactor 2	SERPIND1 HCF2	P05546	https://www.uniprot.org/uniprot/P05546	TLEAQLTPR	Thrombophilia due to heparin cofactor 2 deficiency (THPH10)	A hemostatic disorder characterized by a tendency to recurrent thrombosis
Hepatocyte growth factor-like protein	MST1 D3F15S2 DNF15S2 HGFL	P26927	https://www.uniprot.org/uniprot/P26927	SPLNDFQVLR	inflammatory bowel disease (IBD)	Note=MST1 variant Cys-689 may be associated with inflammatory bowel disease (IBD), a chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is unsure whether Cys-689 itself or a variation in linkage disequilibrium with Cys-689 is responsible for the association with IBD.
Histidine-rich glycoprotein	HRG	P04196	https://www.uniprot.org/uniprot/P04196	ADLFYDVEALDLESPK	Thrombophilia due to histidine-rich glycoprotein deficiency (THPH11)	A hemostatic disorder characterized by a tendency to thrombosis
Hornerin	HRNR S100A18	Q86YZ3	https://www.uniprot.org/uniprot/Q86YZ3	GSGSGQSPSSGQHGTGFGR	0	N/L
Hyaluronan-binding protein 2	HABP2 HGFAL PHBP	Q14520	https://www.uniprot.org/uniprot/Q14520	VVLGDQDLK	Thyroid cancer, non-medullary, 5 (NMTC5)	A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms.
Ig gamma-1 chain C region	IGHG1	P01857	https://www.uniprot.org/uniprot/P01857	GPSVFPLAPSSK	Multiple myeloma (MM)	A malignant tumor of plasma cells usually arising in the bone marrow and characterized by diffuse involvement of the skeletal system, hyperglobulinemia, Bence-Jones proteinuria and anemia. Complications of multiple myeloma are bone pain, hypercalcemia, renal failure and spinal cord compression. The aberrant antibodies that are produced lead to impaired humoral immunity and patients have a high prevalence of infection. Amyloidosis may develop in some patients. Multiple myeloma is part of a spectrum of diseases ranging from monoclonal gammopathy of unknown significance (MGUS) to plasma cell leukemia.
Ig mu chain C region	IGHM	P01871	https://www.uniprot.org/uniprot/P01871	GFPSVLR	NA	N/L
N/L	IGHM	P01871	https://www.uniprot.org/uniprot/P01871	VSVFVPPR	Agammaglobulinemia 1, autosomal recessive (AGM1)	A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.
IgGFc-binding protein	FCGBP	Q9Y6R7	https://www.uniprot.org/uniprot/Q9Y6R7	GATTSPGVYELSSR	0	N/L
Immunoglobulin kappa variable 4-1	IGKV4-1	P06312	https://www.uniprot.org/uniprot/P06312	NYLAWYQQKPGQPPK	0	N/L
Insulin-like growth factor I	IGF1 IBP1	P05019	https://www.uniprot.org/uniprot/P05019	GFYFNKPTGYGSSSR	Insulin-like growth factor I deficiency (IGF1 deficiency)	Autosomal recessive disorder characterized by growth retardation, sensorineural deafness and mental retardation.
Insulin-like growth factor-binding protein 1	IGFBP1 IBP1	P08833	https://www.uniprot.org/uniprot/P08833	ALPGEQQPLHALTR	0	N/L
Insulin-like growth factor-binding protein 2	IGFBP2 BP2 IBP2	P18065	https://www.uniprot.org/uniprot/P18065	LIQGAPTIR	0	N/L
Insulin-like growth factor-binding protein 3	IGFBP3 IBP3	P17936	https://www.uniprot.org/uniprot/P17936	FLNVLSPR	0	N/L
Insulin-like growth factor-binding protein complex acid labile subunit	IGFALS ALS	P35858	https://www.uniprot.org/uniprot/P35858	LAELPADALGPLQR	Acid-labile subunit deficiency (ACLSD)	A disorder characterized by severely reduced serum IGF-I and IGFBP-3 concentrations and mild growth retardation. Pubertal delay in boys and insulin insensitivity are common findings.
Inter-alpha-trypsin inhibitor heavy chain H1	ITIH1 IGHEP1	P19827	https://www.uniprot.org/uniprot/P19827	GSLVQASEANLQAAQDFVR	0	N/L
Inter-alpha-trypsin inhibitor heavy chain H2	ITIH2 IGHEP2	P19823	https://www.uniprot.org/uniprot/P19823	SLAPTAAAK	0	N/L
Inter-alpha-trypsin inhibitor heavy chain H4	ITIH4 IHRP ITIHL1 PK120 PRO1851	Q14624	https://www.uniprot.org/uniprot/Q14624	SPEQQETVLDGNLIIR	0	N/L
Intercellular adhesion molecule 1	ICAM1	P05362	https://www.uniprot.org/uniprot/P05362	LLGIETPLPK	0	N/L
Interleukin-10	IL10	P22301	https://www.uniprot.org/uniprot/P22301	AHVNSLGENLK	0	N/L
Interleukin-6	IL6 IFNB2	P05231	https://www.uniprot.org/uniprot/P05231	FESSEEQAR	Rheumatoid arthritis systemic juvenile (RASJ)	An inflammatory articular disorder with systemic-onset beginning before the age of 16. It represents a subgroup of juvenile arthritis associated with severe extraarticular features and occasionally fatal complications. During active phases of the disorder, patients display a typical daily spiking fever, an evanescent macular rash, lymphadenopathy, hepatosplenomegaly, serositis, myalgia and arthritiS
N/L	N/L	N/L	N/L	N/L	Kaposi sarcoma	A IL6 promoter polymorphism is associated with a lifetime risk of development of Kaposi sarcoma in HIV-infected men.
Interstitial collagenase	MMP1 CLG	P03956	https://www.uniprot.org/uniprot/P03956	AFQLWSNVTPLTFTK	0	N/L
Kallistatin	SERPINA4 KST PI4	P29622	https://www.uniprot.org/uniprot/P29622	VGSALFLSHNLK	0	N/L
Keratin type I cytoskeletal 10	KRT10 KPP	P13645	https://www.uniprot.org/uniprot/P13645	SLLEGEGSSGGGGR	Epidermolytic hyperkeratosis (EHK)	An autosomal dominant skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop.
N/L	N/L	N/L	N/L	N/L	Ichthyosis annular epidermolytic (AEI)	A skin disorder resembling bullous congenital ichthyosiform erythroderma. Affected individuals present with bullous ichthyosis in early childhood and hyperkeratotic lichenified plaques in the flexural areas and extensor surfaces at later ages. The feature that distinguishes AEI from BCIE is dramatic episodes of flares of annular polycyclic plaques with scale, which coalesce to involve most of the body surface and can persist for several weeks or even months.
N/L	N/L	N/L	N/L	N/L	Erythroderma, ichthyosiform, congenital reticular (CRIE)	A rare skin condition characterized by slowly enlarging islands of normal skin surrounded by erythematous ichthyotic patches in a reticulated pattern. The condition starts in infancy as a lamellar ichthyosis, with small islands of normal skin resembling confetti appearing in late childhood and at puberty. Histopathologic findings include band-like parakeratosis, psoriasiform acanthosis, and vacuolization of keratinocytes with binucleated cells in the upper epidermis, sometimes associated with amyloid deposition in the dermis. Ultrastructural abnormalities include perinuclear shells formed from a network of fine filaments in the upper epidermis.
Keratin type I cytoskeletal 9	KRT9	P35527	https://www.uniprot.org/uniprot/P35527	TLLDIDNTR	Keratoderma, palmoplantar, epidermolytic (EPPK)	A dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present knuckle pads, thick pads of skin appearing over the proximal phalangeal joints.
Keratin-type II cytoskeletal 2 epidermal	KRT2 KRT2A KRT2E	P35908	https://www.uniprot.org/uniprot/P35908	YEELQVTVGR	Ichthyosis bullosa of Siemens (IBS)	A rare autosomal dominant skin disorder displaying a type of epidermolytic hyperkeratosis characterized by generalized erythema and extensive blistering from birth. Large, dark gray hyperkeratoses are observed in later weeks. The skin of IBS patients is unusually fragile and has a tendency to shed the outer layers of the epidermis, producing localized denuded areas (molting effect). IBS usually improves with age so that in most middle-aged patients the hyperkeratosis and keratotic lichenification is limited to the flexural folds of the major joints.
Kininogen-1	KNG1 BDK KNG	P01042	https://www.uniprot.org/uniprot/P01042	DIPTNSPELEETLTHTITK	High molecular weight kininogen deficiency (HMWK deficiency)	Autosomal recessive coagulation defect. Patients with HWMK deficiency do not have a hemorrhagic tendency, but they exhibit abnormal surface-mediated activation of fibrinolysis. Note=The disease is caused by mutations affecting the gene represented in this entry.
L-selectin	SELL LNHR LYAM1	P14151	https://www.uniprot.org/uniprot/P14151	AEIEYLEK	0	N/L
Lactotransferrin	LTF GIG12 LF	P02788	https://www.uniprot.org/uniprot/P02788	YLGPQYVAGITNLK	0	N/L
Leucine-rich alpha-2-glycoprotein	LRG1 LRG	P02750	https://www.uniprot.org/uniprot/P02750	DLLLPQPDLR	0	N/L
Lipopolysaccharide-binding protein	LBP	P18428	https://www.uniprot.org/uniprot/P18428	ITLPDFTGDLR	0	N/L
Lumican	LUM LDC SLRR2D	P51884	https://www.uniprot.org/uniprot/P51884	SLEDLQLTHNK	0	N/L
Lysozyme C	LYZ LZM	P61626	https://www.uniprot.org/uniprot/P61626	AWVAWR	Amyloidosis 8 (AMYL8)	A form of hereditary generalized amyloidosis. Clinical features include extensive visceral amyloid deposits, renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. There is no involvement of the nervous system.
Mannan-binding lectin serine protease 1	MASP1 CRARF CRARF1 PRSS5	P48740	https://www.uniprot.org/uniprot/P48740	TGVITSPDFPNPYPK	3MC syndrome 1 (3MC1)	A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes.
Mannan-binding lectin serine protease 2A	MASP2	O00187	https://www.uniprot.org/uniprot/O00187	WPEPVFGR	MASP2 deficiency (MASPD)	A disorder that results in autoimmune manifestations, recurrent severe infections, and chronic inflammatory disease.
Mannose-binding protein C	MBL2 COLEC1 MBL	P11226	https://www.uniprot.org/uniprot/P11226	WLTFSLGK	0	N/L
Matrix Gla protein	MGP MGLAP GIG36	P08493	https://www.uniprot.org/uniprot/P08493	NANTFISPQQR	Keutel syndrome (KTLS)	An autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis neural hearing loss and midfacial hypoplasia.
Matrix metalloproteinase-9	MMP9 CLG4B	P14780	https://www.uniprot.org/uniprot/P14780	AVIDDAFAR	Intervertebral disc disease (IDD)	A common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain.
N/L	N/L	N/L	N/L	N/L	Metaphyseal anadysplasia 2 (MANDP2)	A bone development disorder characterized by skeletal anomalies that resolve spontaneously with age. Clinical characteristics are evident from the first months of life and include slight shortness of stature and a mild varus deformity of the legs. Patients attain a normal stature in adolescence and show improvement or complete resolution of varus deformity of the legs and rhizomelic micromelia.
Melanotransferrin	MELTF MAP97 MFI2	P08582	https://www.uniprot.org/uniprot/P08582	YYDYSGAFR	0	N/L
Metalloproteinase inhibitor 1	TIMP1 CLGI TIMP	P01033	https://www.uniprot.org/uniprot/P01033	GFQALGDAADIR	0	N/L
Metalloproteinase inhibitor 2	TIMP2	P16035	https://www.uniprot.org/uniprot/P16035	EYLIAGK	0	N/L
Metalloproteinase inhibitor 4	TIMP4	Q99727	https://www.uniprot.org/uniprot/Q99727	VVPASADPADTEK	0	N/L
Microtubule-associated protein tau	MAPT MAPTL MTBT1 TAU	P10636	https://www.uniprot.org/uniprot/P10636	EADLPEPSEK	N/L	Note=In Alzheimer disease, the neuronal cytoskeleton in the brain is progressively disrupted and replaced by tangles of paired helical filaments (PHF) and straight filaments, mainly composed of hyperphosphorylated forms of TAU (PHF-TAU or AD P-TAU). O-GlcNAcylation is greatly reduced in Alzheimer disease brain cerebral cortex leading to an increase in TAU/MAPT phosphorylations
N/L	N/L	N/L	N/L	N/L	Frontotemporal dementia (FTD)	A form of dementia characterized by pathologic finding of frontotemporal lobar degeneration, presenile dementia with behavioral changes, deterioration of cognitive capacities and loss of memory. In some cases, parkinsonian symptoms are prominent. Neuropathological changes include frontotemporal atrophy often associated with atrophy of the basal ganglia, substantia nigra, amygdala. In most cases, protein tau deposits are found in glial cells and/or neurons.
N/L	N/L	N/L	N/L	N/L	Pick disease of the brain (PIDB)	A rare form of dementia pathologically defined by severe atrophy, neuronal loss and gliosis. It is characterized by the occurrence of tau-positive inclusions, swollen neurons (Pick cells) and argentophilic neuronal inclusions known as Pick bodies that disproportionally affect the frontal and temporal cortical regions. Clinical features include aphasia, apraxia, confusion, anomia, memory loss and personality deterioration.
N/L	N/L	N/L	N/L	N/L	corticobasal degeneration (CBD)	Defects in MAPT are a cause of corticobasal degeneration (CBD). It is marked by extrapyramidal signs and apraxia and can be associated with memory loss. Neuropathologic features may overlap Alzheimer disease, progressive supranuclear palsy, and Parkinson disease.;
N/L	N/L	N/L	N/L	N/L	Progressive supranuclear palsy 1 (PSNP1)	Characterized by akinetic-rigid syndrome, supranuclear gaze palsy, pyramidal tract dysfunction, pseudobulbar signs and cognitive capacities deterioration. Neurofibrillary tangles and gliosis but no amyloid plaques are found in diseased brains. Most cases appear to be sporadic, with a significant association with a common haplotype including the MAPT gene and the flanking regions. Familial cases show an autosomal dominant pattern of transmission with incomplete penetrance; genetic analysis of a few cases showed the occurrence of tau mutations, including a deletion of Asn-613.
N/L	N/L	N/L	N/L	N/L	Parkinson-dementia syndrome (PARDE)	A syndrome characterized by parkinsonism, tremor, rigidity, dementia, ophthalmoparesis and pyramidal signs. Neurofibrillary degeneration occurs in the hippocampus, basal ganglia and brainstem nuclei. Note=The disease is caused by mutations affecting the gene represented in this entry.
Mucin-16	MUC16 CA125	Q8WXI7	https://www.uniprot.org/uniprot/Q8WXI7	ELGPYTLDR	0	N/L
Myelin basic protein	MBP	P02686	https://www.uniprot.org/uniprot/P02686	GVDAQGTLSK	chronical multiple sclerosis (MS) and Marburg disease	The reduction in the surface charge of citrullinated and/or methylated MBP could result in a weakened attachment to the myelin membrane. This mechanism could be operative in demyelinating diseases such as chronical multiple sclerosis (MS), and fulminating MS (Marburg disease).
Myeloblastin	PRTN3 MBN	P24158	https://www.uniprot.org/uniprot/P24158	LVNVVLGAHNVR	Wegener’s granulomatosis	Is the major autoantigen in anti-neutrophil cytoplasmic autoantibody (ANCA)-associated vasculitis (Wegener’s granulomatosis) (PubMed:2377228, PubMed:2679910). This complex, systemic disease is characterized by granulomatous inflammation with necrotizing lesions in the respiratory tract, glomerulonephritis, vasculitis, and anti-neutrophil cytoplasmatic autoantibodies detected in patient sera
Myeloperoxidase	MPO	P05164	https://www.uniprot.org/uniprot/P05164	VFFASWR	Myeloperoxidase deficiency (MPOD)	A disorder characterized by decreased myeloperoxidase activity in neutrophils and monocytes that results in disseminated candidiasis.
N-acetylmuramoyl-L-alanine amidase	PGLYRP2 PGLYRPL PGRPL UNQ3103/PRO10102	Q96PD5	https://www.uniprot.org/uniprot/Q96PD5	AGLLRPDYALLGHR	0	N/L
N(G),N(G)-dimethylarginine dimethylaminohydrolase 1	DDAH1 DDAH	O94760	https://www.uniprot.org/uniprot/O94760	TPEEYPESAK	0	N/L
Natriuretic peptides B	NPPB	P16860	https://www.uniprot.org/uniprot/P16860	EVATEGIR	0	N/L
Neuropilin-2	NRP2 VEGF165R2	O60462	https://www.uniprot.org/uniprot/O60462	ALQVVR	0	N/L
Neutrophil gelatinase-associated lipocalin	LCN2 HNL NGAL	P80188	https://www.uniprot.org/uniprot/P80188	ITLYGR	0	N/L
Nucleoside diphosphate kinase A	NME1 NDPKA NM23	P15531	https://www.uniprot.org/uniprot/P15531	PFFAGLVK	0	N/L
Occludin	OCLN	Q16625	https://www.uniprot.org/uniprot/Q16625	SLQSELDEINK	Pseudo-TORCH syndrome 1 (PTORCH1)	An autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Affected individuals have congenital microcephaly, intracranial calcifications, and severe developmental delay.
Osteopontin	SPP1 BNSP OPN PSEC0156	P10451	https://www.uniprot.org/uniprot/P10451	GDSVVYGLR	0	N/L
Oxidized low-density lipoprotein receptor 1	OLR1 CLEC8A LOX1	P78380	https://www.uniprot.org/uniprot/P78380	LEGQISAR	Alzheimer disease (AD)	Independent association genetic studies have implicated OLR1 gene variants in myocardial infarction susceptibility.; DISEASE: Note=OLR1 may be involved in Alzheimer disease (AD). Involvement in AD is however unclear: according to some authors
P-selectin	SELP GMRP GRMP	P16109	https://www.uniprot.org/uniprot/P16109	TWTWVGTK	Ischemic stroke (ISCHSTR)	A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors.
Pappalysin-1	PAPPA	Q13219	https://www.uniprot.org/uniprot/Q13219	AYLDVNELK	0	N/L
Peroxiredoxin-1	PRDX1 PAGA PAGB TDPX2	Q06830	https://www.uniprot.org/uniprot/Q06830	ADEGISFR	0	N/L
Peroxiredoxin-2	PRDX2 NKEFB TDPX1	P32119	https://www.uniprot.org/uniprot/P32119	GLFIIDGK	0	N/L
Phosphatidylcholine-sterol acyltransferase	LCAT	P04180	https://www.uniprot.org/uniprot/P04180	SSGLVSNAPGVQIR	Lecithin-cholesterol acyltransferase deficiency (LCATD)	A disorder of lipoprotein metabolism characterized by inadequate esterification of plasmatic cholesterol. Two clinical forms are recognized: complete LCAT deficiency and fish-eye disease. LCATD is generally referred to the complete form which is associated with absence of both alpha and beta LCAT activities resulting in esterification anomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity). It causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure..
N/L	N/L	N/L	N/L	N/L	Fish-eye disease (FED)	A disorder of lipoprotein metabolism due to partial lecithin-cholesterol acyltransferase deficiency that affects only alpha-LCAT activity. FED is characterized by low plasma HDL and corneal opacities due to accumulation of cholesterol deposits in the cornea (‘fish-eye’).
Phosphatidylinositol-glycan-specific phospholipase D	GPLD1 PIGPLD1	P80108	https://www.uniprot.org/uniprot/P80108	FGSSLITVR	0	N/L
Phospholipid transfer protein	PLTP	P55058	https://www.uniprot.org/uniprot/P55058	AVEPQLQEEER	0	N/L
Pigment epithelium-derived factor	SERPINF1 PEDF PIG35	P36955	https://www.uniprot.org/uniprot/P36955	LQSLFDSPDFSK	Osteogenesis imperfecta 6 (OI6)	A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI6 is a severe, autosomal recessive form compatible with OI type III in the Sillence classification.
Plasma protease C1 inhibitor	SERPING1 C1IN C1NH	P05155	https://www.uniprot.org/uniprot/P05155	FQPTLLTLPR	Hereditary angioedema (HAE)	An autosomal dominant disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. Hereditary angioedema due to C1 esterase inhibitor deficiency is comprised of two clinically indistinguishable forms. In hereditary angioedema type 1, serum levels of C1 esterase inhibitor are decreased, while in type 2, the levels are normal or elevated, but the protein is non-functional.
Plasma serine protease inhibitor	SERPINA5 PCI PLANH3 PROCI	P05154	https://www.uniprot.org/uniprot/P05154	GFQQLLQELNQPR	0	N/L
Plasminogen	PLG	P00747	https://www.uniprot.org/uniprot/P00747	EAQLPVIENK	Plasminogen deficiency (PLGD)	A disorder characterized by decreased serum plasminogen activity. Two forms of the disorder are distinguished: type 1 deficiency is additionally characterized by decreased plasminogen antigen levels and clinical symptoms, whereas type 2 deficiency, also known as dysplasminogenemia, is characterized by normal, or slightly reduced antigen levels, and absence of clinical manifestations. Plasminogen deficiency type 1 results in markedly impaired extracellular fibrinolysis and chronic mucosal pseudomembranous lesions due to subepithelial fibrin deposition and inflammation. The most common clinical manifestation of type 1 deficiency is ligneous conjunctivitis in which pseudomembranes formation on the palpebral surfaces of the eye progresses to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa.
Plasminogen activator inhibitor 1	SERPINE1 PAI1 PLANH1	P05121	https://www.uniprot.org/uniprot/P05121	VFQQVAQASK	Plasminogen activator inhibitor-1 deficiency (PAI-1D)	A hematologic disorder characterized by increased bleeding after trauma, injury, or surgery. Affected females have menorrhagia. The bleeding defect is due to increased fibrinolysis of fibrin blood clots due to deficiency of plasminogen activator inhibitor-1, which inhibits tissue and urinary activators of plasminogen. Note=The disease is caused by mutations affecting the gene represented in this entry.
Plastin-2	LCP1 PLS2	P13796	https://www.uniprot.org/uniprot/P13796	ISFDEFIK	B-cell non-Hodgkin lymphomas (B-cell NHL)	Chromosomal aberrations involving LCP1 is a cause of B-cell non-Hodgkin lymphomas (B-cell NHL)..; DISEASE:
N/L	N/L	N/L	N/L	N/L	isolated coloboma	Defects in LCP1 has been found in a patient with isolated coloboma, a defect of the eye characterized by the absence of ocular structures due to abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Isolated colobomas may be associated with an abnormally small eye (microphthalmia) or small cornea.
Platelet endothelial cell adhesion molecule	PECAM1	P16284	https://www.uniprot.org/uniprot/P16284	SELVTVTESFSTPK	0	N/L
Platelet glycoprotein VI	GP6	Q9HCN6	https://www.uniprot.org/uniprot/Q9HCN6	EGDPAPYK	Bleeding disorder, platelet-type 11 (BDPLT11)	A mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen.
Platelet-activating factor acetylhydrolase	PLA2G7 PAFAH	Q13093	https://www.uniprot.org/uniprot/Q13093	GSVHQNFADFTFATGK	Platelet-activating factor acetylhydrolase deficiency (PAFAD)	An enzymatic deficiency that results in exacerbated bodily response to inflammatory agents. It can be associated with several disease states including inflammatory gastrointestinal disorders, asthma and atopy. Asthmatic individuals with PAFAD may manifest aggravated respiratory symptoms
N/L	N/L	N/L	N/L	N/L	Asthma (ASTHMA)	The most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. It is characterized by recurrent attacks of paroxysmal dyspnea, with wheezing due to spasmodic contraction of the bronchi.
N/L	N/L	N/L	N/L	N/L	Atopic hypersensitivity (ATOPY)	A condition characterized by predisposition to develop hypersensitivity reactions. Atopic individuals can develop eczema, allergic rhinitis and allergic asthma.
Pregnancy zone protein	PZP CPAMD6	P20742	https://www.uniprot.org/uniprot/P20742	ISEITNIVSK	0	N/L
Proenkephalin-A	PENK	P01210	https://www.uniprot.org/uniprot/P01210	ELLETGDNR	0	N/L
Prolactin	PRL	P01236	https://www.uniprot.org/uniprot/P01236	IDNYLK	0	N/L
Protein AMBP	AMBP HCP ITIL	P02760	https://www.uniprot.org/uniprot/P02760	HHGPTITAK	0	N/L
Protein S100-A12	S100A12	P80511	https://www.uniprot.org/uniprot/P80511	GHFDTLSK	0	N/L
Protein S100-A9	S100A9 CAGB CFAG MRP14	P06702	https://www.uniprot.org/uniprot/P06702	DLQNFLK	0	N/L
Protein S100-B	S100B	P04271	https://www.uniprot.org/uniprot/P04271	EQEVVDK	0	N/L
Protein Z-dependent protease inhibitor	SERPINA10 ZPI UNQ707/PRO1358	Q9UK55	https://www.uniprot.org/uniprot/Q9UK55	ETSNFGFSLLR	0	N/L
Protein_deglycase_DJ-1	PARK7	Q99497	https://www.uniprot.org/uniprot/Q99497	ALVILAK	Parkinson disease 7 (PARK7)	A neurodegenerative disorder characterized by resting tremor, postural tremor, bradykinesia, muscular rigidity, anxiety and psychotic episodes. PARK7 has onset before 40 years, slow progression and initial good response to levodopa. Some patients may show traits reminiscent of amyotrophic lateral sclerosis-parkinsonism/dementia complex (Guam disease).
Proteoglycan 4	PRG4 MSF SZP	Q92954	https://www.uniprot.org/uniprot/Q92954	DQYYNIDVPSR	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP)	: An autosomal recessive disorder characterized by the association of congenital or early-onset camptodactyly and non-inflammatory arthropathy with synovial hyperplasia. Individuals with CACP have normal appearing joints at birth but with advancing age develop joint failure, non-inflammatory synoviocyte hyperplasia and subintimal fibrosis of the synovial capsule. Some patients also manifest progressive coxa vara deformity and/or non-inflammatory pericardial or pleural effusions.
Prothrombin	F2	P00734	https://www.uniprot.org/uniprot/P00734	ELLESYIDGR	Factor II deficiency (FA2D)	A very rare blood coagulation disorder characterized by mucocutaneous bleeding symptoms. The severity of the bleeding manifestations correlates with blood factor II levels.
N/L	N/L	N/L	N/L	N/L	Ischemic stroke (ISCHSTR)	A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors.
N/L	N/L	N/L	N/L	N/L	Thrombophilia due to thrombin defect (THPH1)	A multifactorial disorder of hemostasis characterized by abnormal platelet aggregation in response to various agents and recurrent thrombi formation. common genetic variation in the 3-prime untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increased risk of venous thrombosis.;
N/L	N/L	N/L	N/L	N/L	Pregnancy loss, recurrent, 2 (RPRGL2)	A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions.
Ras GTPase-activating protein nGAP	RASAL2 NGAP	Q9UJF2	https://www.uniprot.org/uniprot/Q9UJF2	ETQSTPQSAPQVR	0	N/L
Resistin	RETN FIZZ3 HXCP1 RSTN UNQ407/PRO1199	Q9HD89	https://www.uniprot.org/uniprot/Q9HD89	IQEVAGSLIFR	0	N/L
Retinol-binding protein 4	RBP4 PRO2222	P02753	https://www.uniprot.org/uniprot/P02753	YWGVASFLQK	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS)	A disease characterized by retinal degeneration, ocular colobomas involving both the anterior and posterior segment, impaired night vision and loss of visual acuity. Additional characteristic features include developmental abnormalities and severe acne. Loss of functional RBP4 protein results in serum retinol deficiency. Lack of normal levels of retinol impairs the visual cycle leading to night blindness at early stages; prolonged deficiency may lead to retinal degeneration. Additionally, retinol deficiency may result in dry skin, increased susceptibility to infection and acne
N/L	N/L	N/L	N/L	N/L	Microphthalmia, isolated, with coloboma, 10 (MCOPCB10)	A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure).
Serotransferrin	TF PRO1400	P02787	https://www.uniprot.org/uniprot/P02787	DGAGDVAFVK	Atransferrinemia (ATRAF)	A rare autosomal recessive disorder characterized by abnormal synthesis of transferrin leading to iron overload and microcytic hypochromic anemia.
Serum albumin	ALB GIG20 GIG42 PRO0903 PRO1708 PRO2044 PRO2619 PRO2675 UNQ696/PRO1341	P02768	https://www.uniprot.org/uniprot/P02768	LVNEVTEFAK	Hyperthyroxinemia, familial dysalbuminemic (FDAH)	A disorder characterized by abnormally elevated levels of total serum thyroxine (T4) in euthyroid patients. It is due to abnormal serum albumin that binds T4 with enhanced affinity.
N/L	N/L	N/L	N/L	N/L	Analbuminemia (ANALBA)	A rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. Affected individuals manifest mild edema, hypotension, fatigue, and, occasionally, lower body lipodystrophy (mainly in adult females). The most common biochemical finding is hyperlipidemia, with a significant increase in the total and LDL cholesterol concentrations, but normal concentrations of HDL cholesterol and triglycerides.
Serum amyloid A-1 and A-2 proteins	SAA1	P0DJI8	https://www.uniprot.org/uniprot/P0DJI8	EANYIGSDK	N/L	Note=Reactive, secondary amyloidosis is characterized by the extracellular accumulation in various tissues of the SAA1 protein. These deposits are highly insoluble and resistant to proteolysis; they disrupt tissue structure and compromise function.
N/L	N/L	N/L	N/L	N/L	N/L	Note=Elevated serum SAA1 protein levels may be associated with lung cancer.
Serum amyloid A-1 and A-2 proteins	SAA2	P0DJI9	https://www.uniprot.org/uniprot/P0DJI9	EANYIGSDK	N/L	Note=Reactive, secondary amyloidosis is characterized by the extracellular accumulation in various tissues of the SAA2 protein. These deposits are highly insoluble and resistant to proteolysis; they disrupt tissue structure and compromise function.
Serum amyloid A-4 protein	SAA4 CSAA	P35542	https://www.uniprot.org/uniprot/P35542	GNYDAAQR	0	N/L
Serum amyloid P-component	APCS PTX2	P02743	https://www.uniprot.org/uniprot/P02743	IVLGQEQDSYGGK	N/L	Note=SAP is a precursor of amyloid component P which is found in basement membrane and associated with amyloid deposits.
Serum paraoxonase/arylesterase 1	PON1 PON	P27169	https://www.uniprot.org/uniprot/P27169	IFFYDSENPPASEVLR	Microvascular complications of diabetes 5 (MVCD5)	Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. Homozygosity for the Leu-55 allele is strongly associated with the development of retinal disease in diabetic patients.
Serum paraoxonase/lactonase 3	PON3	Q15166	https://www.uniprot.org/uniprot/Q15166	ILIGTVFHK	0	N/L
Sex hormone-binding globulin	SHBG	P04278	https://www.uniprot.org/uniprot/P04278	TSSSFEVR	0	N/L
SPARC	SPARC ON	P09486	https://www.uniprot.org/uniprot/P09486	LEAGDHPVELLAR	Osteogenesis imperfecta 17 (OI17)	An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae.
Spermine oxidase	SMOX C20orf16 SMO UNQ3039/PRO9854	Q9NWM0	https://www.uniprot.org/uniprot/Q9NWM0	YYSTTHGALLSGQR	0	N/L
Sterile alpha motif domain-containing protein 9-like	SAMD9L C7orf6 DRIF2 KIAA2005 UEF	Q8IVG5	https://www.uniprot.org/uniprot/Q8IVG5	ENVLDEVANAK	Ataxia-pancytopenia syndrome (ATXPC)	An autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia.
Stromelysin-1	MMP3 STMY1	P08254	https://www.uniprot.org/uniprot/P08254	TYFFVEDK	Coronary heart disease 6 (CHDS6)	A multifactorial disease characterized by an imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow. Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of the coronary arteries. A polymorphism in the MMP3 promoter region is associated with the risk of coronary heart disease and myocardial infarction, due to lower MMP3 proteolytic activity and higher extracellular matrix deposition in atherosclerotic lesions.
Target of Nesh-SH3	ABI3BP NESHBP TARSH	Q7Z7G0	https://www.uniprot.org/uniprot/Q7Z7G0	IYLSDSLTGK	isolated coloboma	Note=Defects in ABI3BP has been found in a patient with isolated coloboma, a defect of the eye characterized by the absence of ocular structures due to abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Isolated colobomas may be associated with an abnormally small eye (microphthalmia) or small cornea.
TBC1 domain family member 10A	TBC1D10A EPI64 TBC1D10	Q9BXI6	https://www.uniprot.org/uniprot/Q9BXI6	YLPGYYSEK	0	N/L
Tenascin	TNC HXB	P24821	https://www.uniprot.org/uniprot/P24821	FTTDLDSPR	Deafness, autosomal dominant, 56 (DFNA56)	A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA56 is characterized by progressive hearing impairment with post-lingual onset.
Tenascin-X	TNXB HXBL TNX TNXB1 TNXB2 XB	P22105	https://www.uniprot.org/uniprot/P22105	ILISGLEPSTPYR	Ehlers-Danlos syndrome, classic-like (EDSCLL)	A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSCLL patients lack atrophic scars, a major diagnostic criteria for classic Ehlers-Danlos syndrome. Delayed wound healing is only present in a subset of patients. EDSCLL inheritance is autosomal recessive.
N/L	N/L	N/L	N/L	N/L	Vesicoureteral reflux 8 (VUR8)	A disease belonging to the group of congenital anomalies of the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and end-stage renal disease.
Putative tenascin-XA	TNXA XA	Q16473	https://www.uniprot.org/uniprot/Q16473	ILISGLEPSTPYR	0	N/L
Tetranectin	CLEC3B TNA	P05452	https://www.uniprot.org/uniprot/P05452	NWETEITAQPDGGK	0	N/L
Thrombomodulin	THBD THRM	P07204	https://www.uniprot.org/uniprot/P07204	SSVAADVISLLLNGDGGVGR	Thrombophilia due to thrombomodulin defect (THPH12)	A hemostatic disorder characterized by a tendency to thrombosis. The role of thrombomodulin in thrombosis is controversial. It is likely that genetic or environmental risk factors in addition to THBD variation are involved in the pathogenesis of venous thrombosis.
N/L	N/L	N/L	N/L	N/L	Hemolytic uremic syndrome atypical 6 (AHUS6)	An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease.
Thrombospondin-1	THBS1 TSP TSP1	P07996	https://www.uniprot.org/uniprot/P07996	GTLLALER	0	N/L
Thrombospondin-4	THBS4 TSP4	P35443	https://www.uniprot.org/uniprot/P35443	KPQDFLEELK	0	N/L
Thyroglobulin	TG	P01266	https://www.uniprot.org/uniprot/P01266	FSPDDSAGASALLR	Thyroid dyshormonogenesis 3 (TDH3)	A disorder due to thyroid dyshormonogenesis, causing large goiters of elastic and soft consistency in the majority of patients. Although the degree of thyroid dysfunction varies considerably among patients with defective thyroglobulin synthesis, patients usually have a relatively high serum free triiodothyronine (T3) concentration with disproportionately low free tetraiodothyronine (T4) level. The maintenance of relatively high free T3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases.
N/L	N/L	N/L	N/L	N/L	Autoimmune thyroid disease 3 (AITD3)	A complex autoimmune disorder comprising two related diseases affecting the thyroid: Graves disease and Hashimoto thyroiditis. In both disorders, thyroid-reactive T-cells are formed and infiltrate the thyroid gland. In Graves disease, the majority of the T-cells undergo a Th2 differentiation and activate B-cells to produce antibodies against the TSH receptor, which stimulate the thyroid and cause clinical hyperthyroidism. In contrast, Hashimoto thyroiditis is characterized by Th1 switching of the thyroid-infiltrating T-cells, which induces apoptosis of thyroid follicular cells and clinical hypothyroidism.
Thyroxine-binding globulin	SERPINA7 TBG	P05543	https://www.uniprot.org/uniprot/P05543	AVLHIGEK	0	N/L
Tissue_factor_pathway_inhibitor	TFPI LACI TFPI1	P10646	https://www.uniprot.org/uniprot/P10646	FYYNSVIGK	0	N/L
Tissue-type plasminogen activator	PLAT	P00750	https://www.uniprot.org/uniprot/P00750	VVPGEEEQK	N/L	Increased activity of TPA results in increased fibrinolysis of fibrin blood clots that is associated with excessive bleeding. Defective release of TPA results in hypofibrinolysis that can lead to thrombosis or embolism.
Transcription factor SOX-11	SOX11	P35716	https://www.uniprot.org/uniprot/P35716	AAQSGDYGGAGDDYVLGSLR	Mental retardation, autosomal dominant 27 (MRD27)	A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD27 patients show dysmorphic facial features, microcephaly, growth deficiency, hypoplastic fifth toenails, and mild intellectual disability.
Transferrin receptor protein 1	TFRC	P02786	https://www.uniprot.org/uniprot/P02786	GFVEPDHYVVVGAQR	Immunodeficiency 46 (IMD46)	An autosomal recessive primary immunodeficiency disorder characterized by early-onset chronic diarrhea, recurrent infections, hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, and intermittent thrombocytopenia.
Transthyretin	TTR PALB	P02766	https://www.uniprot.org/uniprot/P02766	GSPAINVAVHVFR	Amyloidosis, transthyretin-related (AMYL-TTR)	A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor.
N/L	N/L	N/L	N/L	N/L	Hyperthyroxinemia, dystransthyretinemic (DTTRH)	A condition characterized by elevation of total and free thyroxine in healthy, euthyroid persons without detectable binding protein abnormalities.
N/L	N/L	N/L	N/L	N/L	Carpal tunnel syndrome 1 (CTS1)	A condition characterized by entrapment of the median nerve within the carpal tunnel. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. This condition may be associated with repetitive occupational trauma, wrist injuries, amyloid neuropathies, rheumatoid arthritis.
Tumor necrosis factor receptor superfamily member 1A	TNFRSF1A TNFAR TNFR1	P19438	https://www.uniprot.org/uniprot/P19438	LGLSDHEIDR	Familial hibernian fever (FHF)	A hereditary periodic fever syndrome characterized by recurrent fever, abdominal pain, localized tender skin lesions and myalgia. Reactive amyloidosis is the main complication and occurs in 25% of cases
N/L	N/L	N/L	N/L	N/L	Multiple sclerosis 5 (MS5)	A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. An intronic mutation affecting alternative splicing and skipping of exon 6 directs increased expression of isoform 4 a transcript encoding a C-terminally truncated protein which is secreted and may function as a TNF antagonist.
Tumor necrosis factor receptor superfamily member 1B	TNFRSF1B TNFBR TNFR2	P20333	https://www.uniprot.org/uniprot/P20333	DEQVPFSK	0	N/L
Vascular cell adhesion protein 1	VCAM1	P19320	https://www.uniprot.org/uniprot/P19320	NTVISVNPSTK	0	N/L
Vascular endothelial growth factor B	VEGFB VRF	P49765	https://www.uniprot.org/uniprot/P49765	VVSWIDVYTR	0	N/L
Vascular endothelial growth factor D	VEGFD FIGF	O43915	https://www.uniprot.org/uniprot/O43915	DLIQHPK	0	N/L
Vascular non-inflammatory molecule 3	VNN3	Q9NY84	https://www.uniprot.org/uniprot/Q9NY84	TETPVSK	0	N/L
Vasorin	VASN SLITL2 UNQ314/PRO357/PRO1282	Q6EMK4	https://www.uniprot.org/uniprot/Q6EMK4	YLQGSSVQLR	0	N/L
Vitamin D-binding protein	GC	P02774	https://www.uniprot.org/uniprot/P02774	VLEPTLK	0	N/L
Vitamin K-dependent protein C	PROC	P04070	https://www.uniprot.org/uniprot/P04070	LGEYDLR	Thrombophilia due to protein C deficiency, autosomal dominant (THPH3)	A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. Individuals with decreased amounts of protein C are classically referred to as having type I protein C deficiency and those with normal amounts of a functionally defective protein as having type II deficiency.
N/L	N/L	N/L	N/L	N/L	Thrombophilia due to protein C deficiency, autosomal recessive (THPH4)	A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. It results in a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia. The severe form leads to neonatal death through massive neonatal venous thrombosis. Often associated with ecchymotic skin lesions which can turn necrotic called purpura fulminans, this disorder is very rare.
Vitamin K-dependent protein S	PROS1 PROS	P07225	https://www.uniprot.org/uniprot/P07225	VYFAGFPR	Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)	A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. Based on the plasma levels of total and free PROS1 as well as the serine protease-activated protein C cofactor activity, three types of THPH5 have been described: type I, characterized by reduced total and free PROS1 levels together with reduced anticoagulant activity; type III, in which only free PROS1 antigen and PROS1 activity levels are reduced; and the rare type II which is characterized by normal concentrations of both total and free PROS1 antigen, but low cofactor activity.
N/L	N/L	N/L	N/L	N/L	Thrombophilia due to protein S deficiency, autosomal recessive (THPH6)	A very rare and severe hematologic disorder resulting in thrombosis and secondary hemorrhage usually beginning in early infancy. Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage.
Vitamin K-dependent protein Z	PROZ	P22891	https://www.uniprot.org/uniprot/P22891	DFAEHLLIPR	0	N/L
Vitronectin	VTN	P04004	https://www.uniprot.org/uniprot/P04004	FEDGVLDPDYPR	0	N/L
von Willebrand factor	VWF F8VWF	P04275	https://www.uniprot.org/uniprot/P04275	ILAGPAGDSNVVK	von Willebrand disease 1 (VWD1)	A common hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in impaired platelet aggregation. Von Willebrand disease type 1 is characterized by partial quantitative deficiency of circulating von Willebrand factor, that is otherwise structurally and functionally normal. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma.
N/L	N/L	N/L	N/L	N/L	von Willebrand disease 2 (VWD2)	A hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in altered platelet aggregation. Von Willebrand disease type 2 is characterized by qualitative deficiency and functional anomalies of von Willebrand factor. It is divided in different subtypes including 2A, 2B, 2M and 2N (Normandy variant). The mutant VWF protein in types 2A, 2B and 2M are defective in their platelet-dependent function, whereas the mutant protein in type 2N is defective in its ability to bind factor VIII. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma.
N/L	N/L	N/L	N/L	N/L	von Willebrand disease 3 (VWD3)	A severe hemorrhagic disorder due to a total or near total absence of von Willebrand factor in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII. Bleeding usually starts in infancy and can include epistaxis, recurrent mucocutaneous bleeding, excessive bleeding after minor trauma, and hemarthroses
Xaa-Pro dipeptidase	PEPD PRD	P12955	https://www.uniprot.org/uniprot/P12955	AVYEAVLR	Prolidase deficiency (PD)	A multisystem disorder associated with massive iminodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. Clinical features include skin ulcers, developmental delay, recurrent infections, and a characteristic facies.
Zinc-alpha-2-glycoprotein	AZGP1 ZAG ZNGP1	P25311	https://www.uniprot.org/uniprot/P25311	EIPAWVPFDPAAQITK	0	N/L

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