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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
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 |
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 |
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 |
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 |
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 |
Hypogonadotropic hypogonadism
|
0.830 |
Biomarker
|
disease |
MGD |
Disruption of the neurokinin-3 receptor (NK3) in mice leads to cognitive deficits.
|
17558564 |
2007 |
Hypogonadotropic hypogonadism
|
0.830 |
Biomarker
|
disease |
HPO |
|
|
|
Hypogonadotropic hypogonadism
|
0.830 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
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 |
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 |
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 |
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 |
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 |