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: 4292
Gene Symbol: MLH1
MLH1
mutL homolog 1 0.399 0.808 3.4E-05
Hereditary Non-Polyposis Colon Cancer Type 2
disease 0.710 definitive 1.000 60 98 1994 2017
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
gap junction protein beta 1 0.514 0.731 0.85
Charcot-Marie-Tooth disease, X-linked, 1
disease 1.000 None 1.000 58 72 1993 2019
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
myosin heavy chain 7 0.516 0.692 4.2E-16
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
disease 0.700 strong 1.000 56 113 1961 2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
mutS homolog 2 0.406 0.808 0.90
Colorectal cancer, hereditary nonpolyposis, type 1
disease 0.600 strong 1.000 54 84 1993 2017
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
Malignant hyperthermia susceptibility type 1
disease 0.700 strong 1.000 44 89 1991 2017
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
Early Infantile Epileptic Encephalopathy 6
disease 0.800 None 1.000 43 184 2000 2018
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
spastin 0.579 0.577 1.00
Spastic paraplegia 4, autosomal dominant
disease 1.000 None 1.000 43 26 1991 2019
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
leucine rich repeat kinase 2 0.510 0.808 2.6E-30
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder)
disease 0.930 None 1.000 42 30 2004 2019
Entrez Id: 875
Gene Symbol: CBS
CBS
cystathionine beta-synthase 0.465 0.885 3.1E-05
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
Charcot-Marie-Tooth Disease, Type Ib
disease 1.000 None 1.000 39 30 1992 2019
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
Osteogenesis imperfecta, dominant perinatal lethal
disease 0.890 None 1.000 37 61 1986 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: 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
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
disease 0.730 None 1.000 31 33 2000 2012
Entrez Id: 5009
Gene Symbol: OTC
OTC
ornithine carbamoyltransferase 0.565 0.846 0.87
Ornithine carbamoyltransferase deficiency
disease 1.000 definitive 1.000 30 107 1976 2018
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: 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: 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
Entrez Id: 1674
Gene Symbol: DES
DES
desmin 0.460 0.846 8.8E-03
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
disease 1.000 definitive 1.000 28 29 1989 2019
Entrez Id: 4693
Gene Symbol: NDP
NDP
norrin cystine knot growth factor NDP 0.566 0.692 0.65
CUI: C0266526
Disease: Norrie disease
Norrie disease
disease 1.000 definitive 1.000 28 17 1992 2019
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
disease 0.700 None 1.000 27 21 2004 2019
Entrez Id: 2155
Gene Symbol: F7
F7
coagulation factor VII 0.623 0.615 1.3E-05
CUI: C0015503
Disease: Factor VII Deficiency
Factor VII Deficiency
disease 0.740 definitive 1.000 26 66 1988 2019
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
protein S 0.467 0.846 4.7E-04
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
disease 0.600 strong 1.000 26 34 1994 2016
Entrez Id: 6010
Gene Symbol: RHO
RHO
rhodopsin 0.525 0.769 1.3E-04
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4
disease 0.910 None 1.000 26 35 1990 2018
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder)
disease 1.000 None 1.000 26 54 1993 2019