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: 1589
Gene Symbol: CYP21A2
CYP21A2
cytochrome P450 family 21 subfamily A member 2 0.525 0.769 2.6E-04
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.100 None 0.959 146 20 1980 2020
Entrez Id: 5443
Gene Symbol: POMC
POMC
proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.100 None 0.976 42 1 1980 2019
Entrez Id: 1590
Gene Symbol: CYP21A1P
CYP21A1P
cytochrome P450 family 21 subfamily A member 1, pseudogene 0.780 0.500
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.100 None 1.000 11 0 1991 2012
Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B
major histocompatibility complex, class I, B 0.379 0.885 3.9E-05
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.080 None 1.000 8 0 1978 1990
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.040 None 1.000 4 0 2008 2016
Entrez Id: 721
Gene Symbol: C4B
C4B
complement C4B (Chido blood group) 0.603 0.808 0.83
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.030 None 1.000 3 0 1986 1995
Entrez Id: 1555
Gene Symbol: CYP2B6
CYP2B6
cytochrome P450 family 2 subfamily B member 6 0.428 0.846 1.9E-10
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.030 None 1.000 3 0 2005 2009
Entrez Id: 3284
Gene Symbol: HSD3B2
HSD3B2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 0.582 0.500 7.2E-08
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.030 None 1.000 3 1 2007 2015
Entrez Id: 2739
Gene Symbol: GLO1
GLO1
glyoxalase I 0.537 0.769 9.7E-07
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.030 None 1.000 3 0 1978 1983
Entrez Id: 7148
Gene Symbol: TNXB
TNXB
tenascin XB 0.572 0.731 1.9E-02
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.030 None 0.667 3 6 2005 2019
Entrez Id: 22943
Gene Symbol: DKK1
DKK1
dickkopf WNT signaling pathway inhibitor 1 0.439 0.885 0.17
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.020 None 1.000 2 0 2013 2019
Entrez Id: 2908
Gene Symbol: NR3C1
NR3C1
nuclear receptor subfamily 3 group C member 1 0.393 0.885 0.97
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.020 None 1.000 2 1 2006 2012
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
cytochrome P450 family 2 subfamily C member 19 0.467 0.846 6.5E-20
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.020 None 1.000 2 0 2009 2016
Entrez Id: 1392
Gene Symbol: CRH
CRH
corticotropin releasing hormone 0.439 0.808 0.72
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.020 None 1.000 2 0 2002 2017
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 6046
Gene Symbol: BRD2
BRD2
bromodomain containing 2 0.450 0.808 1.00
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.010 None 1.000 1 0 1993 1993
Entrez Id: 55997
Gene Symbol: CFC1
CFC1
cripto, FRL-1, cryptic family 1 0.588 0.577 0.11
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.010 None 1.000 1 0 1981 1981
Entrez Id: 560
Gene Symbol: AZF1
AZF1
azoospermia factor 1 0.711 0.269
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 5987
Gene Symbol: TRIM27
TRIM27
tripartite motif containing 27 0.572 0.808 1.00
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.010 None 1.000 1 0 1990 1990
Entrez Id: 5972
Gene Symbol: REN
REN
renin 0.370 0.923 2.4E-07
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 653108
Gene Symbol: CXADRP1
CXADRP1
CXADR pseudogene 1 0.463 0.846
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 9970
Gene Symbol: NR1I3
NR1I3
nuclear receptor subfamily 1 group I member 3 0.448 0.846 3.5E-08
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
nuclear receptor subfamily 1 group I member 2 0.418 0.846 7.3E-09
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 8644
Gene Symbol: AKR1C3
AKR1C3
aldo-keto reductase family 1 member C3 0.529 0.769 7.6E-24
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease 0.010 None 1.000 1 0 2016 2016