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: 236
Gene Symbol: AKR1B1P2
AKR1B1P2
aldo-keto reductase family 1 member B1 pseudogene 2 1.000 0.154
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 0.030 None 1.000 3 0 1998 2007
Entrez Id: 100303716
Gene Symbol: PBC2
PBC2
Biliary cirrhosis, primary, 2 0.931 0.192
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 0.010 None 1.000 1 0 2013 2013
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: 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 2 0 2005 2011
Entrez Id: 10449
Gene Symbol: ACAA2
ACAA2
acetyl-CoA acyltransferase 2 0.792 0.308 3.7E-10
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 0.010 None 1.000 1 0 1987 1987
Entrez Id: 11037
Gene Symbol: STON1
STON1
stonin 1 0.729 0.308 1.5E-11
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4931
Gene Symbol: NVL
NVL
nuclear VCP like 0.821 0.308 4.3E-19
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6429
Gene Symbol: SRSF4
SRSF4
serine and arginine rich splicing factor 4 0.821 0.308 0.87
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 8529
Gene Symbol: CYP4F2
CYP4F2
cytochrome P450 family 4 subfamily F member 2 0.674 0.308 7.6E-17
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 0.010 None 1.000 1 1 2016 2016
Entrez Id: 51268
Gene Symbol: PIPOX
PIPOX
pipecolic acid and sarcosine oxidase 0.722 0.346 6.6E-12
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 0.010 None 1.000 1 0 1989 1989
Entrez Id: 64834
Gene Symbol: ELOVL1
ELOVL1
ELOVL fatty acid elongase 1 0.760 0.385 0.68
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 0.030 None 1.000 3 0 2010 2015
Entrez Id: 11036
Gene Symbol: GTF2A1L
GTF2A1L
general transcription factor IIA subunit 1 like 0.678 0.385 2.8E-11
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 286749
Gene Symbol: STON1-GTF2A1L
STON1-GTF2A1L
STON1-GTF2A1L readthrough 0.682 0.385 1.5E-22
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 0.010 None 1.000 1 0 2017 2017
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 8 0 1998 2014
Entrez Id: 10226
Gene Symbol: PLIN3
PLIN3
perilipin 3 0.736 0.423 1.2E-07
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 84649
Gene Symbol: DGAT2
DGAT2
diacylglycerol O-acyltransferase 2 0.686 0.423 8.4E-12
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 8909
Gene Symbol: ENDOU
ENDOU
endonuclease, poly(U) specific 0.682 0.423 3.2E-14
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 910
Gene Symbol: CD1B
CD1B
CD1b molecule 0.722 0.423 5.4E-11
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 11001
Gene Symbol: SLC27A2
SLC27A2
solute carrier family 27 member 2 0.700 0.462 6.4E-09
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 0.070 None 0.857 7 0 1995 2005
Entrez Id: 53345
Gene Symbol: TM6SF2
TM6SF2
transmembrane 6 superfamily member 2 0.638 0.462 3.6E-05
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 0.040 None 1.000 4 1 2015 2019
Entrez Id: 118460
Gene Symbol: EXOSC6
EXOSC6
exosome component 6 0.674 0.462 0.52
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 22937
Gene Symbol: SCAP
SCAP
SREBF chaperone 0.682 0.462 2.9E-06
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 30
Gene Symbol: ACAA1
ACAA1
acetyl-CoA acyltransferase 1 0.729 0.462 3.6E-09
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 0.010 None 1.000 1 0 1987 1987
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 29 0 1997 2019
Entrez Id: 1463
Gene Symbol: NCAN
NCAN
neurocan 0.670 0.500 6.8E-02
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease 0.010 None 1.000 1 1 2014 2014