Source: LHGDN

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: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		disease 1.000 definitive 0.977 8 0 1981 2020
Entrez Id: 225
Gene Symbol: ABCD2
ABCD2 		ATP binding cassette subfamily D member 2 0.711 0.500 4.7E-06
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		disease 0.100 None 1.000 2 0 1997 2019
Entrez Id: 5825
Gene Symbol: ABCD3
ABCD3 		ATP binding cassette subfamily D member 3 0.751 0.423 7.8E-03
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		disease 0.080 None 1.000 1 0 1998 2014
Entrez Id: 23205
Gene Symbol: ACSBG1
ACSBG1 		acyl-CoA synthetase bubblegum family member 1 0.603 0.654 4.0E-05
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		disease 0.070 None 1.000 1 0 2000 2016
Entrez Id: 10134
Gene Symbol: BCAP31
BCAP31 		B cell receptor associated protein 31 0.579 0.808 0.43
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		disease 0.020 None 1.000 1 0 2002 2015
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4 		ATP binding cassette subfamily D member 4 0.769 0.308 1.3E-12
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		disease 0.020 None 1.000 1 0 2005 2011
Entrez Id: 6622
Gene Symbol: SNCA
SNCA 		synuclein alpha 0.427 0.885 0.88
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 81616
Gene Symbol: ACSBG2
ACSBG2 		acyl-CoA synthetase bubblegum family member 2 0.931 0.192 1.1E-10
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 875
Gene Symbol: CBS
CBS 		cystathionine beta-synthase 0.465 0.885 3.1E-05
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		disease 0.010 None 1.000 1 0 2006 2006