Source: RGD

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: 1756
Gene Symbol: DMD
DMD
dystrophin 0.423 0.923 1.00
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 1.000 strong 0.980 2 0 1981 2020
Entrez Id: 2157
Gene Symbol: F8
F8
coagulation factor VIII 0.542 0.769 1.00
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
disease 1.000 definitive 0.983 2 0 1977 2020
Entrez Id: 2184
Gene Symbol: FAH
FAH
fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 1.000 definitive 0.990 2 0 1981 2019
Entrez Id: 3064
Gene Symbol: HTT
HTT
huntingtin 0.548 0.654 1.00
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
disease 1.000 limited 0.987 2 0 1993 2020
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
melanocortin 4 receptor 0.535 0.692 9.2E-04
CUI: C0028754
Disease: Obesity
Obesity
disease 1.000 None 0.961 2 0 1997 2020
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
PKHD1 ciliary IPT domain containing fibrocystin/polyductin 0.576 0.654 1.2E-47
Autosomal Recessive Polycystic Kidney Disease
disease 1.000 None 1.000 2 0 1975 2019
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
ATPase copper transporting beta 0.529 0.654 4.8E-30
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 1.000 definitive 0.980 2 0 1983 2020
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 1.000 None 0.979 1 0 1989 2020
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CF transmembrane conductance regulator 0.424 0.885 2.2E-58
Congenital bilateral aplasia of vas deferens
disease 1.000 strong 0.965 1 0 1992 2019
Entrez Id: 1130
Gene Symbol: LYST
LYST
lysosomal trafficking regulator 0.621 0.692 1.5E-02
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome
disease 1.000 None 0.982 1 0 1968 2019
Entrez Id: 1244
Gene Symbol: ABCC2
ABCC2
ATP binding cassette subfamily C member 2 0.483 0.808 5.2E-47
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic
disease 1.000 strong 1.000 1 0 1996 2020
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A
disease 1.000 moderate 1.000 1 0 1994 2018
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
disease 1.000 definitive 0.985 1 0 1991 2020
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
hepatocyte nuclear factor 4 alpha 0.461 0.808 0.15
Diabetes Mellitus, Non-Insulin-Dependent
disease 1.000 None 0.942 1 0 1992 2019
Entrez Id: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
disease 1.000 strong 0.961 1 0 1989 2020
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 1.000 None 0.966 1 0 1970 2019
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease 1.000 limited 0.982 1 0 1992 2020
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
disease 1.000 None 0.982 1 0 1978 2020
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1
potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1
disease 1.000 None 0.974 1 0 1994 2018
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
L1 cell adhesion molecule 0.475 0.769 1.00
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome
disease 1.000 None 0.984 1 0 1986 2020
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
lysosomal associated membrane protein 2 0.552 0.731 0.27
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb
disease 1.000 definitive 1.000 1 0 1995 2020
Entrez Id: 411
Gene Symbol: ARSB
ARSB
arylsulfatase B 0.595 0.692 7.0E-09
CUI: C0026709
Disease: Mucopolysaccharidosis VI
Mucopolysaccharidosis VI
disease 1.000 strong 1.000 1 0 1979 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 1 0 1975 2020
Entrez Id: 4233
Gene Symbol: MET
MET
MET proto-oncogene, receptor tyrosine kinase 0.380 0.846 0.97
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease 1.000 None 0.969 1 0 1994 2020
Entrez Id: 4352
Gene Symbol: MPL
MPL
MPL proto-oncogene, thrombopoietin receptor 0.510 0.692 4.1E-09
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
disease 1.000 None 0.978 1 0 1995 2020