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: 4625
Gene Symbol: MYH7
MYH7
myosin heavy chain 7 0.564 0.483 3.7E-16
CUI: C0205700
Disease: Asymmetric Septal Hypertrophy
Asymmetric Septal Hypertrophy
disease 0.600 definitive 56 113 1990 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
myosin heavy chain 7 0.564 0.483 3.7E-16
Cardiomyopathy, Hypertrophic, Familial
disease 0.800 definitive 0.857 56 113 1990 2018
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
myosin heavy chain 7 0.564 0.483 3.7E-16
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
disease 0.700 definitive 56 113 1961 2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
mutS homolog 2 0.437 0.690 0.91
Hereditary Non-Polyposis Colon Cancer Type 2
disease 0.510 definitive 1.000 54 81 1994 2016
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
mutS homolog 2 0.437 0.690 0.91
Colorectal cancer, hereditary nonpolyposis, type 1
disease 0.600 definitive 54 81 1993 2017
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.469 0.690 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 1.000 definitive 0.957 44 40 1973 2018
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.588 0.621 1.00
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
disease 1.000 definitive 0.978 42 112 1967 2018
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.588 0.621 1.00
CUI: C1970820
Disease: Fabry Disease, Cardiac Variant
Fabry Disease, Cardiac Variant
disease 0.600 definitive 42 112 1967 2018
Entrez Id: 2548
Gene Symbol: GAA
GAA
glucosidase alpha, acid 0.607 0.655 1.9E-17
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 1.000 definitive 0.956 40 64 1965 2018
Entrez Id: 2548
Gene Symbol: GAA
GAA
glucosidase alpha, acid 0.607 0.655 1.9E-17
Cardiac form of generalized glycogenosis
disease 0.500 definitive 40 64 1965 2015
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
polycystin 1, transient receptor potential channel interacting 0.537 0.621 1.00
Polycystic Kidney, Autosomal Dominant
disease 1.000 definitive 0.972 34 40 1989 2018
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
polycystin 1, transient receptor potential channel interacting 0.537 0.621 1.00
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1
disease 0.800 definitive 0.923 34 40 1992 2013
Entrez Id: 3423
Gene Symbol: IDS
IDS
iduronate 2-sulfatase 0.616 0.655 0.94
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
disease 1.000 definitive 1.000 33 19 1991 2017
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.458 0.724 1.00
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease 1.000 definitive 0.951 33 71 1988 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.463 0.862 0.78
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
disease 1.000 definitive 0.954 28 35 1966 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.463 0.862 0.78
Rett Syndrome, Preserved Speech Variant
disease 0.510 definitive 1.000 28 35 1999 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.463 0.862 0.78
CUI: C2677682
Disease: Rett Syndrome, Zappella Variant
Rett Syndrome, Zappella Variant
disease 0.600 definitive 28 35 1999 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.463 0.862 0.78
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical
disease 0.800 definitive 0.917 28 35 1999 2018
Entrez Id: 4693
Gene Symbol: NDP
NDP
NDP, norrin cystine knot growth factor 0.602 0.517 0.67
CUI: C0266526
Disease: Norrie disease
Norrie disease
disease 1.000 definitive 1.000 28 16 1993 2018
Entrez Id: 1674
Gene Symbol: DES
DES
desmin 0.503 0.759 7.7E-03
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
disease 1.000 definitive 1.000 27 29 1989 2017
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
usherin 0.636 0.345 2.2E-91
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA
disease 0.980 definitive 1.000 26 60 1998 2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
myosin binding protein C, cardiac 0.621 0.310 8.3E-09
Familial Hypertrophic Cardiomyopathy Type 4
disease 0.900 definitive 25 51 1990 2017
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
myosin binding protein C, cardiac 0.621 0.310 8.3E-09
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO
phenotype 0.800 definitive 25 51 1995 2017
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
ATP binding cassette subfamily D member 1 0.604 0.690 1.00
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 1.000 definitive 0.933 22 29 1982 2018
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
hypoxanthine phosphoribosyltransferase 1 0.518 0.793 0.94
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
disease 1.000 definitive 0.974 15 13 1980 2018