Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.790 CausalMutation CLINVAR Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy? 24025597

2013
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.790 CausalMutation CLINVAR Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency. 23295294

2012
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.790 CausalMutation CLINVAR 17-β-hydroxysteroid dehydrogenase type 3 deficiency in three adult Iranian siblings. 22212252

2011
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.790 CausalMutation CLINVAR Isolated mild clitoral hypertrophy may reveal 46,XY disorders of sex development in infancy due to 17βHSD-3 defect confirmed by molecular analysis. 21214500

2011
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.790 CausalMutation CLINVAR 17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence. 19498320

2009
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.790 CausalMutation CLINVAR 17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite. 17509588

2008
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.790 CausalMutation CLINVAR 17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations. 10599740

1999
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.790 CausalMutation CLINVAR A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism. 9758445

1998
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.790 CausalMutation CLINVAR Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. 8550739

1996
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.790 GeneticVariation CLINVAR