Source: BEFREE

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: 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: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		disease 0.780 None 1.000 8 5 1993 2015
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		disease 0.100 None 0.909 11 0 1993 2008
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		disease 0.060 None 1.000 6 1 1987 2002
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3 		hydroxysteroid 17-beta dehydrogenase 3 0.641 0.346 8.5E-07
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		disease 0.020 None 1.000 2 0 1994 1994
Entrez Id: 1081
Gene Symbol: CGA
CGA 		glycoprotein hormones, alpha polypeptide 0.508 0.808 0.35
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		disease 0.010 None 1.000 1 0 1993 1993
Entrez Id: 164656
Gene Symbol: TMPRSS6
TMPRSS6 		transmembrane serine protease 6 0.584 0.654 4.1E-10
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 404663
Gene Symbol: LINC01194
LINC01194 		long intergenic non-protein coding RNA 1194 0.470 0.769
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		disease 0.010 None 1.000 1 0 1993 1993
Entrez Id: 4502
Gene Symbol: MT2A
MT2A 		metallothionein 2A 0.553 0.808 1.2E-05
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 4544
Gene Symbol: MTNR1B
MTNR1B 		melatonin receptor 1B 0.588 0.731 6.5E-04
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		disease 0.010 None 1.000 1 0 2002 2002