Source: ALL

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: 1584
Gene Symbol: CYP11B1
CYP11B1 		cytochrome P450 family 11 subfamily B member 1 0.563 0.615 8.2E-07
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		disease 0.400 None 1.000 43 11 1991 2019
Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2 		cytochrome P450 family 11 subfamily B member 2 0.553 0.615 7.1E-19
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		disease 0.030 None 1.000 3 4 2004 2018
Entrez Id: 110673971
Gene Symbol: LOC110673971
LOC110673971 		CYP11B2 promoter 0.890 0.269
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 8630
Gene Symbol: HSD17B6
HSD17B6 		hydroxysteroid 17-beta dehydrogenase 6 0.592 0.692 0.35
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1 		thioredoxin reductase 1 0.529 0.692 1.6E-06
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5972
Gene Symbol: REN
REN 		renin 0.370 0.923 2.4E-07
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		disease 0.010 None 1.000 1 0 1980 1980
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		cytochrome P450 family 21 subfamily A member 2 0.525 0.769 2.6E-04
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		disease 0.010 None 1.000 1 1 2015 2015
Entrez Id: 1555
Gene Symbol: CYP2B6
CYP2B6 		cytochrome P450 family 2 subfamily B member 6 0.428 0.846 1.9E-10
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 9360
Gene Symbol: PPIG
PPIG 		peptidylprolyl isomerase G 0.497 0.846 0.96
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		disease 0.010 None 1.000 1 0 2010 2010