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: 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: 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: 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: 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: 551
Gene Symbol: AVP
AVP
arginine vasopressin 0.437 0.846 7.4E-02
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 1983 1983
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: 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: 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: 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: 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: 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: 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: 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: 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: 80347
Gene Symbol: COASY
COASY
Coenzyme A synthase 0.551 0.654 8.1E-10
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 1994 1994
Entrez Id: 2886
Gene Symbol: GRB7
GRB7
growth factor receptor bound protein 7 0.603 0.462 1.4E-06
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 1995 1995
Entrez Id: 721
Gene Symbol: C4B
C4B
complement C4B (Chido blood group) 0.603 0.808 0.83
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 1995 1995
Entrez Id: 2695
Gene Symbol: GIP
GIP
gastric inhibitory polypeptide 0.570 0.654 0.27
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.020 None 1.000 2 0 1999 2005
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
menin 1 0.444 0.808 1.00
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 1999 1999
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: 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: 596
Gene Symbol: BCL2
BCL2
BCL2 apoptosis regulator 0.291 0.885 0.56
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 2000 2000
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: 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: 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