Source: CLINGEN

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: 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 16 0 1965 2018
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.404 0.828 8.7E-02
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
disease 1.000 definitive 0.985 13 0 1982 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 13 0 1993 2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase, non-receptor type 11 0.429 0.828 1.00
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease 1.000 definitive 0.957 12 0 2001 2018
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
clarin 1 0.656 0.379 1.6E-08
CUI: C1568248
Disease: Usher Syndrome, Type III
Usher Syndrome, Type III
disease 1.000 definitive 0.938 11 0 1997 2017
Entrez Id: 6794
Gene Symbol: STK11
STK11
serine/threonine kinase 11 0.467 0.655 0.99
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease 1.000 definitive 0.969 10 0 1949 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 10 0 1989 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 10 0 1988 2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase, non-receptor type 11 0.429 0.828 1.00
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
disease 1.000 definitive 0.962 10 0 2002 2017
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
ryanodine receptor 2 0.575 0.414 1.00
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
disease 1.000 definitive 0.969 9 0 1990 2018
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
myosin VIIA 0.639 0.310 1.4E-35
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I
disease 1.000 definitive 0.962 9 0 1956 2018
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.435 0.759 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease 1.000 definitive 0.974 9 0 1996 2018
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
mutL homolog 1 0.424 0.759 5.1E-05
Hereditary Nonpolyposis Colorectal Cancer
disease 1.000 definitive 0.950 9 0 1992 2018
Entrez Id: 4771
Gene Symbol: NF2
NF2
neurofibromin 2 0.511 0.621 1.00
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
disease 1.000 definitive 0.954 9 0 1985 2018
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
lysosomal associated membrane protein 2 0.604 0.517 0.30
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb
disease 1.000 definitive 1.000 8 0 1995 2018
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
ubiquitin protein ligase E3A 0.590 0.483 1.00
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
disease 1.000 definitive 0.973 8 0 1997 2017
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 8 0 1967 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 8 0 1991 2017
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.251 0.897 0.17
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 1.000 definitive 0.919 8 0 1989 2018
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
exostosin glycosyltransferase 1 0.577 0.655 1.00
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses
disease 1.000 definitive 0.969 7 0 1995 2018
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.504 0.724 1.00
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
disease 1.000 definitive 0.990 7 0 2004 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 7 0 1953 2018
Entrez Id: 2395
Gene Symbol: FXN
FXN
frataxin 0.527 0.586 0.33
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia
disease 1.000 definitive 0.996 7 0 1990 2018
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.430 0.759 1.00
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome
disease 1.000 definitive 0.969 7 0 1993 2017
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 7 0 1989 2018