Source: CURATED

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: 540
Gene Symbol: ATP7B
ATP7B
ATPase copper transporting beta 0.547 0.621 5.4E-30
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 1.000 0.976 124 207 1983 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
cystic fibrosis transmembrane conductance regulator 0.453 0.793 1.1E-57
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 1.000 0.948 85 427 1989 2018
Entrez Id: 2157
Gene Symbol: F8
F8
coagulation factor VIII 0.586 0.655 1.00
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
disease 1.000 0.959 82 209 1980 2018
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.380 0.793 0.98
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 1.000 0.940 74 48 1970 2018
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
gap junction protein beta 1 0.527 0.621 0.84
Charcot-Marie-Tooth disease, X-linked, 1
disease 1.000 1.000 58 58 1979 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 55 136 1965 2018
Entrez Id: 4023
Gene Symbol: LPL
LPL
lipoprotein lipase 0.504 0.724 7.2E-10
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
disease 1.000 0.956 55 46 1981 2018
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 54 369 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 51 192 1967 2018
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.545 0.621 2.3E-28
Malignant hyperpyrexia due to anesthesia
disease 1.000 0.954 50 89 1990 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
sodium voltage-gated channel alpha subunit 5 0.527 0.552 0.88
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
disease 1.000 strong 0.974 49 263 1996 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 48 278 1966 2018
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.521 0.724 5.6E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
disease 1.000 0.909 46 114 1983 2016
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
menin 1 0.463 0.724 1.00
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
disease 1.000 moderate 0.945 45 85 1980 2018
Entrez Id: 3145
Gene Symbol: HMBS
HMBS
hydroxymethylbilane synthase 0.600 0.552 0.93
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 1.000 0.992 44 38 1981 2018
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 44 358 1988 2018
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 44 64 1989 2018
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.506 0.517 1.00
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy
disease 1.000 0.968 44 378 2001 2018
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
potassium voltage-gated channel subfamily Q member 1 0.525 0.586 2.1E-07
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
disease 1.000 1.000 41 215 1993 2018
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
ATPase copper transporting alpha 0.518 0.655 1.00
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
disease 1.000 definitive 0.958 40 83 1953 2018
Entrez Id: 2158
Gene Symbol: F9
F9
coagulation factor IX 0.511 0.759 1.00
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
disease 1.000 0.976 40 73 1952 2018
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
myelin protein zero 0.535 0.793 0.23
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 1.000 strong 0.992 39 24 1988 2018
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
myelin protein zero 0.535 0.793 0.23
Charcot-Marie-Tooth Disease, Type Ib
disease 1.000 1.000 39 43 1992 2018
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
serpin family C member 1 0.554 0.621 1.00
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
disease 1.000 0.941 37 35 1965 2018
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 37 64 1991 2017