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: 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 2 0 1983 2018
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.477 0.724 1.00
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 1.000 0.969 2 0 1982 2018
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
PKHD1, fibrocystin/polyductin 0.614 0.448 1.3E-47
Autosomal Recessive Polycystic Kidney Disease
disease 1.000 1.000 2 0 1998 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 1 0 1970 2018
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.401 0.862 6.0E-46
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 1.000 0.944 1 0 1978 2018
Entrez Id: 551
Gene Symbol: AVP
AVP
arginine vasopressin 0.486 0.759 7.5E-02
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus
disease 1.000 1.000 1 0 1982 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 1 0 1989 2018
Entrez Id: 1130
Gene Symbol: LYST
LYST
lysosomal trafficking regulator 0.633 0.586 0.56
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome
disease 1.000 0.952 1 0 1963 2017
Entrez Id: 1244
Gene Symbol: ABCC2
ABCC2
ATP binding cassette subfamily C member 2 0.495 0.690 7.5E-47
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic
disease 1.000 1.000 1 0 1996 2016
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 1 0 1980 2018
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
fragile X mental retardation 1 0.492 0.690 0.69
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
disease 1.000 0.979 1 0 1991 2018
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1
potassium voltage-gated channel subfamily A member 1 0.676 0.483 9.6E-02
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1
disease 1.000 1.000 1 0 1993 2016
Entrez Id: 3848
Gene Symbol: KRT1
KRT1
keratin 1 0.616 0.345 0.66
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
disease 1.000 0.971 1 0 1992 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 1 0 1966 2018
Entrez Id: 4352
Gene Symbol: MPL
MPL
MPL proto-oncogene, thrombopoietin receptor 0.554 0.655 3.3E-09
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
disease 1.000 1.000 1 0 1996 2018
Entrez Id: 5009
Gene Symbol: OTC
OTC
ornithine carbamoyltransferase 0.627 0.552 0.89
Ornithine carbamoyltransferase deficiency
disease 1.000 1.000 1 0 1983 2017
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.418 0.724 1.00
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
disease 1.000 0.971 1 0 1988 2018
Entrez Id: 7299
Gene Symbol: TYR
TYR
tyrosinase 0.505 0.724 4.3E-32
CUI: C0268494
Disease: Oculocutaneous albinism type 1
Oculocutaneous albinism type 1
disease 1.000 0.969 1 0 1981 2017
Entrez Id: 7389
Gene Symbol: UROD
UROD
uroporphyrinogen decarboxylase 0.584 0.586 1.3E-08
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda
disease 1.000 0.980 1 0 1981 2016
Entrez Id: 54658
Gene Symbol: UGT1A1
UGT1A1
UDP glucuronosyltransferase family 1 member A1 0.491 0.724 3.6E-06
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1
disease 1.000 0.967 1 0 1990 2016
Entrez Id: 7299
Gene Symbol: TYR
TYR
tyrosinase 0.505 0.724 4.3E-32
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
disease 0.910 1.000 1 0 1970 2015
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
endothelin receptor type B 0.492 0.793 1.2E-02
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
disease 0.900 1.000 2 0 1966 2016
Entrez Id: 3064
Gene Symbol: HTT
HTT
huntingtin 0.579 0.517 1.00
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
disease 0.900 0.971 2 0 1993 2018
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
insulin receptor substrate 1 0.532 0.621 3.5E-02
Diabetes Mellitus, Non-Insulin-Dependent
disease 0.900 0.941 2 0 1993 2017
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
melanocortin 4 receptor 0.580 0.586 9.1E-04
CUI: C0028754
Disease: Obesity
Obesity
disease 0.900 0.948 2 0 1997 2018