HYPOGONADOTROPIC HYPOGONADISM 8 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 8 WITH OR WITHOUT ANOSMIA
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
|
23643382 |
2013 |
HYPOGONADOTROPIC HYPOGONADISM 8 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 8 WITH OR WITHOUT ANOSMIA
|
0.900 |
Biomarker
|
disease |
MGD |
Kisspeptin signaling is indispensable for neurokinin B, but not glutamate, stimulation of gonadotropin secretion in mice.
|
22067321 |
2012 |
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
|
0.900 |
Biomarker
|
disease |
MGD |
Kiss1-/- mice exhibit more variable hypogonadism than Gpr54-/- mice.
|
17595229 |
2007 |
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54.
|
17164310 |
2007 |
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
|
0.900 |
Biomarker
|
disease |
MGD |
Kisspeptin directly stimulates gonadotropin-releasing hormone release via G protein-coupled receptor 54.
|
15665093 |
2005 |
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.
|
15598687 |
2005 |
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
|
0.900 |
Biomarker
|
disease |
MGD |
The GPR54 gene as a regulator of puberty.
|
14573733 |
2003 |
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
The GPR54 gene as a regulator of puberty.
|
14573733 |
2003 |
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54.
|
12944565 |
2003 |
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
|
0.900 |
Biomarker
|
disease |
MGD |
The KiSS-1 receptor GPR54 is essential for the development of the murine reproductive system.
|
14652023 |
2003 |
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
|
0.900 |
SusceptibilityMutation
|
disease |
CLINVAR |
|
|
|
PRECOCIOUS PUBERTY, CENTRAL, 1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
|
23643382 |
2013 |
PRECOCIOUS PUBERTY, CENTRAL, 1
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
A GPR54-activating mutation in a patient with central precocious puberty.
|
18272894 |
2008 |
PRECOCIOUS PUBERTY, CENTRAL, 1
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Kallmann Syndrome
|
0.520 |
Biomarker
|
disease |
BEFREE |
Even though it is a genotypically and phenotypically heterogeneous clinical disease, there are some key genes related to KS (KAL1, FGFR1 (KAL2), GNRHR, KISSR1 (GPR54), GNRH1, NELF and PROK2).
|
24776628 |
2014 |
Kallmann Syndrome
|
0.520 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
|
23643382 |
2013 |
Kallmann Syndrome
|
0.520 |
Biomarker
|
disease |
MGD |
Kisspeptin signaling is indispensable for neurokinin B, but not glutamate, stimulation of gonadotropin secretion in mice.
|
22067321 |
2012 |
Kallmann Syndrome
|
0.520 |
Biomarker
|
disease |
MGD |
Kiss1-/- mice exhibit more variable hypogonadism than Gpr54-/- mice.
|
17595229 |
2007 |
Kallmann Syndrome
|
0.520 |
GeneticVariation
|
disease |
BEFREE |
Mutations in KAL1 and FGFR1 cause Kallmann syndrome (KS), whereas mutations in the GNRHR and GPR54 genes cause idiopathic hypogonadotropic hypogonadism with normal olfaction (nIHH).
|
16606836 |
2006 |
Kallmann Syndrome
|
0.520 |
Biomarker
|
disease |
MGD |
Kisspeptin directly stimulates gonadotropin-releasing hormone release via G protein-coupled receptor 54.
|
15665093 |
2005 |
Kallmann Syndrome
|
0.520 |
Biomarker
|
disease |
MGD |
The GPR54 gene as a regulator of puberty.
|
14573733 |
2003 |