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: 1590
Gene Symbol: CYP21A1P
CYP21A1P
cytochrome P450 family 21 subfamily A member 1, pseudogene 0.780 0.500
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.100 None 1.000 14 0 1990 2013
Entrez Id: 6060
Gene Symbol: RNU1-4
RNU1-4
RNA, U1 small nuclear 4 0.626 0.577
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.020 None 1.000 2 0 2010 2017
Entrez Id: 6736
Gene Symbol: SRY
SRY
sex determining region Y 0.456 0.808
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.020 None 1.000 2 0 1992 2014
Entrez Id: 7146
Gene Symbol: TNXA
TNXA
tenascin XA (pseudogene) 0.821 0.269
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.020 None 1.000 2 0 2005 2015
Entrez Id: 110673972
Gene Symbol: LOC110673972
LOC110673972
CYP11B1 promoter 0.890 0.269
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 1556
Gene Symbol: CYP2B7P
CYP2B7P
cytochrome P450 family 2 subfamily B member 7, pseudogene 0.760 0.385
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 560
Gene Symbol: AZF1
AZF1
azoospermia factor 1 0.711 0.269
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 346007
Gene Symbol: EYS
EYS
eyes shut homolog 0.631 0.538 3.7E-41
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 50940
Gene Symbol: PDE11A
PDE11A
phosphodiesterase 11A 0.612 0.654 8.7E-37
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.120 None 1.000 2 0 2009 2010
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
ATPase copper transporting beta 0.529 0.654 4.8E-30
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2028
Gene Symbol: ENPEP
ENPEP
glutamyl aminopeptidase 0.564 0.731 1.4E-28
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 9333
Gene Symbol: TGM5
TGM5
transglutaminase 5 0.656 0.615 2.4E-25
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand factor 0.408 0.885 3.2E-25
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
cytochrome P450 family 2 subfamily C member 19 0.467 0.846 6.5E-20
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.020 None 1.000 2 0 2009 2016
Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2
cytochrome P450 family 11 subfamily B member 2 0.553 0.615 7.1E-19
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.130 None 1.000 3 1 2001 2004
Entrez Id: 4051
Gene Symbol: CYP4F3
CYP4F3
cytochrome P450 family 4 subfamily F member 3 0.551 0.808 3.5E-16
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.020 None 1.000 2 0 1984 1986
Entrez Id: 6822
Gene Symbol: SULT2A1
SULT2A1
sulfotransferase family 2A member 1 0.545 0.769 1.3E-15
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
acyl-CoA dehydrogenase very long chain 0.653 0.654 4.2E-15
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1551
Gene Symbol: CYP3A7
CYP3A7
cytochrome P450 family 3 subfamily A member 7 0.670 0.500 6.1E-14
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6770
Gene Symbol: STAR
STAR
steroidogenic acute regulatory protein 0.513 0.808 8.8E-11
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.140 None 1.000 4 0 2011 2019
Entrez Id: 1555
Gene Symbol: CYP2B6
CYP2B6
cytochrome P450 family 2 subfamily B member 6 0.428 0.846 1.9E-10
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.100 None 1.000 18 1 1986 2019
Entrez Id: 129831
Gene Symbol: RBM45
RBM45
RNA binding motif protein 45 0.383 0.846 2.1E-10
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 146183
Gene Symbol: OTOA
OTOA
otoancorin 0.760 0.423 3.0E-10
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5447
Gene Symbol: POR
POR
cytochrome p450 oxidoreductase 0.502 0.769 3.4E-10
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.460 None 0.857 5 1 2004 2016