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: 1629
Gene Symbol: DBT
DBT 		dihydrolipoamide branched chain transacylase E2 0.638 0.462 1.0E-05
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		disease 1.000 definitive 1.000 10 0 1991 2020
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		disease 1.000 definitive 1.000 10 0 1989 2019
Entrez Id: 2022
Gene Symbol: ENG
ENG 		endoglin 0.446 0.846 1.00
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		disease 1.000 definitive 0.991 10 0 1994 2019
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		disease 1.000 definitive 0.987 10 0 1983 2019
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 1.000 definitive 1.000 10 0 1992 2019
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1 		solute carrier family 3 member 1 0.593 0.731 7.2E-27
CUI: C0010691
Disease: Cystinuria
Cystinuria 		disease 1.000 definitive 0.987 10 0 1993 2019
Entrez Id: 6794
Gene Symbol: STK11
STK11 		serine/threonine kinase 11 0.435 0.808 0.99
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		disease 1.000 definitive 0.992 10 0 1997 2019
Entrez Id: 11136
Gene Symbol: SLC7A9
SLC7A9 		solute carrier family 7 member 9 0.666 0.692 9.1E-10
CUI: C0010691
Disease: Cystinuria
Cystinuria 		disease 1.000 definitive 1.000 9 0 1999 2018
Entrez Id: 35
Gene Symbol: ACADS
ACADS 		acyl-CoA dehydrogenase short chain 0.663 0.538 2.8E-06
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		disease 1.000 definitive 1.000 9 0 1989 2018
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3 		integrin subunit beta 3 0.485 0.846 1.7E-03
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		disease 1.000 definitive 1.000 9 0 1982 2020
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		potassium voltage-gated channel subfamily Q member 1 0.485 0.769 4.5E-08
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		disease 1.000 definitive 1.000 9 0 1997 2019
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		myosin VIIA 0.585 0.423 1.6E-38
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		disease 1.000 definitive 0.990 9 0 1956 2020
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		solute carrier family 26 member 4 0.507 0.885 9.0E-22
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 1.000 definitive 1.000 9 0 1996 2019
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		proteolipid protein 1 0.543 0.769 0.93
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		disease 1.000 definitive 0.979 9 0 1962 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 9 0 1983 2020
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		disease 1.000 definitive 0.994 9 0 1960 2020
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5 		solute carrier family 22 member 5 0.608 0.731 5.3E-16
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		disease 1.000 definitive 0.979 9 0 1985 2019
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 1.000 definitive 0.969 9 0 1991 2019
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		SURF1 cytochrome c oxidase assembly factor 0.578 0.654 1.6E-13
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 1.000 definitive 0.987 9 0 1998 2018
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		transcription factor 4 0.464 0.846 1.00
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		disease 1.000 definitive 1.000 9 0 2007 2019
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		disease 1.000 definitive 1.000 9 0 2006 2019
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		disease 1.000 definitive 0.935 8 0 1977 2017
Entrez Id: 2158
Gene Symbol: F9
F9 		coagulation factor IX 0.465 0.885 1.00
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 1.000 definitive 0.979 8 0 1976 2020
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease 1.000 definitive 0.986 8 0 1973 2020
Entrez Id: 2731
Gene Symbol: GLDC
GLDC 		glycine decarboxylase 0.628 0.577 6.6E-28
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		disease 1.000 definitive 0.982 8 0 1990 2020