MAMLD1, mastermind like domain containing 1, 10046

N. diseases: 52; N. variants: 11
Disease: Primary hypogonadism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		0.010 GeneticVariation disease BEFREE Although three patients with <i>MAMLD1</i> mutations were reported to have hypergonadotropic hypogonadism in their teens, the functional significance of MAMLD1 in the postnatal testis remains unclear. 28629181 2017