Source: UNIPROT

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		potassium voltage-gated channel subfamily Q member 1 0.485 0.769 4.5E-08
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		disease 1.000 None 0.990 41 196 1996 2019
Entrez Id: 4221
Gene Symbol: MEN1
MEN1 		menin 1 0.444 0.808 1.00
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		disease 0.900 strong 0.959 41 34 1989 2020
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 1.000 definitive 0.994 40 77 1965 2019
Entrez Id: 875
Gene Symbol: CBS
CBS 		cystathionine beta-synthase 0.465 0.885 3.1E-05
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		disease 0.800 definitive 1.000 40 68 1959 2019
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		myelin protein zero 0.503 0.846 0.27
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		disease 1.000 None 1.000 39 30 1992 2019
Entrez Id: 2158
Gene Symbol: F9
F9 		coagulation factor IX 0.465 0.885 1.00
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 1.000 definitive 0.979 38 53 1976 2020
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		disease 0.890 None 1.000 37 61 1986 2019
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1 		serpin family C member 1 0.507 0.769 1.00
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		disease 1.000 strong 0.987 36 35 1984 2019
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		myocilin 0.595 0.500 7.6E-12
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		disease 0.720 strong 1.000 36 36 1996 2015
Entrez Id: 3423
Gene Symbol: IDS
IDS 		iduronate 2-sulfatase 0.559 0.769 0.95
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		disease 1.000 definitive 0.994 34 21 1991 2019
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		polycystin 1, transient receptor potential channel interacting 0.493 0.769 1.00
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		disease 1.000 definitive 0.986 34 54 1992 2018
Entrez Id: 4763
Gene Symbol: NF1
NF1 		neurofibromin 1 0.440 0.885 0.90
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		disease 1.000 None 0.976 33 72 1977 2020
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		disease 0.910 None 1.000 33 217 1995 2018
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		disease 0.730 None 1.000 31 33 2000 2012
Entrez Id: 351
Gene Symbol: APP
APP 		amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease 0.900 None 0.981 30 11 1987 2020
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2 		potassium voltage-gated channel subfamily H member 2 0.522 0.731 1.00
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		disease 0.800 None 0.989 30 226 1995 2019
Entrez Id: 5009
Gene Symbol: OTC
OTC 		ornithine carbamoyltransferase 0.565 0.846 0.87
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		disease 1.000 definitive 1.000 30 107 1976 2018
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		parkin RBR E3 ubiquitin protein ligase 0.431 0.846 6.9E-07
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		disease 1.000 None 0.994 30 22 1998 2019
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		proteolipid protein 1 0.543 0.769 0.93
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		disease 1.000 definitive 0.979 30 14 1962 2019
Entrez Id: 5498
Gene Symbol: PPOX
PPOX 		protoporphyrinogen oxidase 0.678 0.500 2.8E-02
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		disease 0.900 None 1.000 30 18 1981 2019
Entrez Id: 249
Gene Symbol: ALPL
ALPL 		alkaline phosphatase, biomineralization associated 0.546 0.769 3.6E-04
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		disease 0.950 None 0.975 29 53 1988 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 1.000 definitive 0.977 29 35 1975 2020
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		disease 1.000 None 1.000 29 141 1995 2018
Entrez Id: 7450
Gene Symbol: VWF
VWF 		von Willebrand factor 0.408 0.885 3.2E-25
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		disease 1.000 None 0.974 29 35 1987 2020
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		disease 1.000 definitive 1.000 28 80 1980 2019