Source: UNIPROT

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 GeneticVariation UNIPROT Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development. 26545797

2016
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.790 GeneticVariation UNIPROT Here, a novel C268Y substitution mutation in exon 10 of the HSD17B3 gene, in a subject with 17 beta-HSD 3 deficiency, is reported. 11158067

2001
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.790 GeneticVariation UNIPROT 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 GeneticVariation UNIPROT Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3). 9709959

1998
Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.790 GeneticVariation UNIPROT 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 UNIPROT Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. 8075637

1994