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: 1586
Gene Symbol: CYP17A1
CYP17A1
cytochrome P450 family 17 subfamily A member 1 0.462 0.769 2.6E-04
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.700 strong 1.000 15 1 1989 2019
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
cytochrome P450 family 21 subfamily A member 2 0.525 0.769 2.6E-04
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.500 None 0.983 221 17 1983 2020
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: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.500 None 1.000 10 2 1994 2016
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
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
phosphodiesterase 8B 0.638 0.500 1.00
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.420 None 1.000 2 0 2008 2010
Entrez Id: 1584
Gene Symbol: CYP11B1
CYP11B1
cytochrome P450 family 11 subfamily B member 1 0.563 0.615 8.2E-07
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.200 None 1.000 36 3 1991 2018
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: 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: 3762
Gene Symbol: KCNJ5
KCNJ5
potassium inwardly rectifying channel subfamily J member 5 0.560 0.577 3.4E-04
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.120 None 1.000 2 0 2012 2015
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: 5566
Gene Symbol: PRKACA
PRKACA
protein kinase cAMP-activated catalytic subunit alpha 0.606 0.692 0.97
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.120 None 1.000 2 0 2015 2015
Entrez Id: 5443
Gene Symbol: POMC
POMC
proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.100 None 1.000 31 1 1977 2020
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: 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: 7148
Gene Symbol: TNXB
TNXB
tenascin XB 0.572 0.731 1.9E-02
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.060 None 1.000 6 6 2005 2019
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.050 None 1.000 5 1 1992 2017
Entrez Id: 3283
Gene Symbol: HSD3B1
HSD3B1
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 0.619 0.462 2.4E-07
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.040 None 1.000 3 0 2000 2005
Entrez Id: 2739
Gene Symbol: GLO1
GLO1
glyoxalase I 0.537 0.769 9.7E-07
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.030 None 1.000 3 0 1982 1987
Entrez Id: 3105
Gene Symbol: HLA-A
HLA-A
major histocompatibility complex, class I, A 0.370 0.846 1.3E-03
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.030 None 1.000 3 0 1980 2016
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.030 None 1.000 3 0 1994 2002
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
cytochrome P450 family 19 subfamily A member 1 0.410 0.885 1.7E-05
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.030 None 1.000 3 0 2017 2019
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: 5972
Gene Symbol: REN
REN
renin 0.370 0.923 2.4E-07
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.020 None 1.000 2 0 2016 2020
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: 4158
Gene Symbol: MC2R
MC2R
melanocortin 2 receptor 0.582 0.654 3.1E-04
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.020 None 1.000 2 0 2010 2014