AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3264562
Disease: Buried penis
Buried penis
0.020 AlteredExpression disease BEFREE No differences in AR expression were found in hypospadias or buried penis cases as compared to controls matched for age at time of surgery. 31810878 2019
CUI: C3264562
Disease: Buried penis
Buried penis
0.020 GeneticVariation disease BEFREE In the present study, we performed microarray analysis for genital skin fibroblasts obtained from four boys with buried penis (the control individuals) and a patient with partial androgen insensitivity syndrome (PAIS) due to a hypomorphic mutation in AR (the PAIS patient). 30787207 2019