TACR3, tachykinin receptor 3, 6870

N. diseases: 147; N. variants: 21
Disease: Kallmann Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.500 GermlineCausalMutation disease ORPHANET Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.500 Biomarker disease MGD Uncovering novel reproductive defects in neurokinin B receptor null mice: closing the gap between mice and men. 22253416 2012
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.500 GermlineCausalMutation disease ORPHANET TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. 19079066 2009
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.500 Biomarker disease MGD Disruption of the neurokinin-3 receptor (NK3) in mice leads to cognitive deficits. 17558564 2007