TAC3, tachykinin precursor 3, 6866

N. diseases: 78; N. variants: 9
Disease: Gonadotropin deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency 		0.010 GeneticVariation disease BEFREE We report four human pedigrees with severe congenital gonadotropin deficiency and pubertal failure in which all affected individuals are homozygous for loss-of-function mutations in TAC3 (encoding Neurokinin B) or its receptor TACR3 (encoding NK3R). 19079066 2009