OPHN1, oligophrenin 1, 4983

N. diseases: 81; N. variants: 19
Disease: Cryptorchidism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.110 GeneticVariation disease BEFREE These comparisons found previously unreported commonalities between the newly identified patients, such as the presence of otitis media and the lack of genitourinary abnormalities (i.e. hypoplastic scrotum, microphallus, cryptorchidism), which had been noted to be classic features of patients with OPHN1 variants. 29960046 2019
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.110 Biomarker disease HPO