AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
Disease: Hypospadias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.200 GeneticVariation disease BEFREE Characterization of two point mutations in the androgen receptor gene of patients with perineoscrotal hypospadia. 8274427 1993
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.200 GeneticVariation disease BEFREE To test this hypothesis we measured estrogen and androgen formation in two brothers with perineoscrotal hypospadias and severe gynecomastia (the Reifenstein phenotype) due to a mutation that impairs androgen receptor function. 2370295 1990
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.200 Biomarker disease HPO