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 0.631 0.577 2.8E-18
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 1.000 definitive 0.994 16 0 1965 2019
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C4520892
Disease: Otospondylomegaepiphyseal dysplasia
Otospondylomegaepiphyseal dysplasia 		disease 1.000 definitive 1.000 15 0 1964 2015
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 15 0 1991 2020
Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA 		CCAAT enhancer binding protein alpha 0.496 0.692 0.55
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease 1.000 definitive 0.985 14 0 1992 2020
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		disease 1.000 definitive 0.974 13 0 1982 2020
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group 1.000 definitive 0.951 13 0 1995 2020
Entrez Id: 4693
Gene Symbol: NDP
NDP 		norrin cystine knot growth factor NDP 0.566 0.692 0.65
CUI: C0266526
Disease: Norrie disease
Norrie disease 		disease 1.000 definitive 1.000 13 0 1992 2019
Entrez Id: 4942
Gene Symbol: OAT
OAT 		ornithine aminotransferase 0.593 0.731 7.7E-07
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		disease 1.000 definitive 0.962 13 0 1981 2019
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 1.000 definitive 0.987 13 0 2001 2020
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		disease 1.000 definitive 1.000 12 0 1998 2019
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB 		glycoprotein Ib platelet subunit beta 0.524 0.769 0.51
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		disease 1.000 definitive 1.000 12 0 1988 2019
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		NADH:ubiquinone oxidoreductase subunit S4 0.587 0.808 3.1E-04
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 1.000 definitive 0.968 12 0 2001 2019
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		polycystin 2, transient receptor potential cation channel 0.552 0.731 1.7E-04
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 1.000 definitive 0.984 12 0 1994 2020
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		disease 1.000 definitive 1.000 11 0 1980 2019
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		disease 1.000 definitive 0.987 11 0 1987 2018
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 11 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 11 0 1981 2019
Entrez Id: 2625
Gene Symbol: GATA3
GATA3 		GATA binding protein 3 0.415 0.846 0.90
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		disease 1.000 definitive 0.957 11 0 1995 2019
Entrez Id: 2639
Gene Symbol: GCDH
GCDH 		glutaryl-CoA dehydrogenase 0.691 0.385 4.9E-03
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		disease 1.000 definitive 1.000 11 0 1988 2020
Entrez Id: 4627
Gene Symbol: MYH9
MYH9 		myosin heavy chain 9 0.505 0.808 1.00
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		phenotype 1.000 definitive 1.000 11 0 1998 2020
Entrez Id: 4627
Gene Symbol: MYH9
MYH9 		myosin heavy chain 9 0.505 0.808 1.00
CUI: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME 		disease 1.000 definitive 0.984 11 0 1998 2019
Entrez Id: 4771
Gene Symbol: NF2
NF2 		neurofibromin 2 0.468 0.885 1.00
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		disease 1.000 definitive 0.987 11 0 1991 2020
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		disease 1.000 definitive 0.982 11 0 2001 2019
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1 		clarin 1 0.633 0.423 1.7E-08
CUI: C1568248
Disease: Usher Syndrome, Type III
Usher Syndrome, Type III 		disease 1.000 definitive 1.000 11 0 1996 2020
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		SH3 and multiple ankyrin repeat domains 3 0.550 0.731 1.00
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		disease 1.000 definitive 1.000 11 0 2001 2020