TACR3, tachykinin receptor 3, 6870

N. diseases: 147; N. variants: 21
Disease: Klinefelter Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.030 Biomarker disease BEFREE GNRHR and TACR3 should be the first two genes to be screened in a clinical setting for equivocal cases such as constitutional delay in puberty versus idiopathic HH. 26680571 2016
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.030 GeneticVariation disease BEFREE Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor. 19755480 2009
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.030 GeneticVariation disease BEFREE TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. 19079066 2009