TACR3, tachykinin receptor 3, 6870

N. diseases: 147; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553844
Disease: HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.900 GeneticVariation disease UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900 2014
CUI: C3553844
Disease: HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.900 GeneticVariation disease UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
CUI: C3553844
Disease: HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.900 Biomarker disease MGD Uncovering novel reproductive defects in neurokinin B receptor null mice: closing the gap between mice and men. 22253416 2012
CUI: C3553844
Disease: HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.900 CausalMutation disease CLINVAR Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations. 22031817 2011
CUI: C3553844
Disease: HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.900 CausalMutation disease CLINVAR Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome. 21300340 2011
CUI: C3553844
Disease: HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.900 CausalMutation disease CLINVAR The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome. 22035731 2011
CUI: C3553844
Disease: HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.900 CausalMutation disease CLINVAR TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood. 20332248 2010
CUI: C3553844
Disease: HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.900 GeneticVariation disease UNIPROT TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. 19079066 2009
CUI: C3553844
Disease: HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.900 Biomarker disease GENOMICS_ENGLAND TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. 19079066 2009
CUI: C3553844
Disease: HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.900 Biomarker disease MGD Disruption of the neurokinin-3 receptor (NK3) in mice leads to cognitive deficits. 17558564 2007
CUI: C3553844
Disease: HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.900 Biomarker disease CTD_human
CUI: C3553844
Disease: HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA 		0.900 GeneticVariation disease CLINVAR
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.830 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: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.830 Biomarker disease MGD The remarkable ability of acyclic female Tacr3 null mice to achieve fertility is reminiscent of the reversal of hypogonadotropic hypogonadism seen in a high proportion of human patients bearing mutations in TACR3. 22253416 2012
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.830 GeneticVariation disease BEFREE Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor. 19755480 2009
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.830 Biomarker disease CTD_human TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. 19079066 2009
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.830 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
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.830 Biomarker disease MGD Disruption of the neurokinin-3 receptor (NK3) in mice leads to cognitive deficits. 17558564 2007
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.830 Biomarker disease HPO
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.830 Biomarker disease GENOMICS_ENGLAND
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.510 Biomarker disease CTD_human Seven of the 9 SNPs in the 3' region of TACR3 provided significant evidence of association with alcohol dependence (p <or= 0.05). 18422838 2008
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.510 Biomarker disease PSYGENET Seven of the 9 SNPs in the 3' region of TACR3 provided significant evidence of association with alcohol dependence (p <or= 0.05). 18422838 2008
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.510 GeneticVariation disease BEFREE Seven of the 9 SNPs in the 3' region of TACR3 provided significant evidence of association with alcohol dependence (p <or= 0.05). 18422838 2008
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