WDR11, WD repeat domain 11, 55717

N. diseases: 179; N. variants: 8
Disease: HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs318240760
rs318240760
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.800 GeneticVariation UNIPROT WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. 29263200 2018
dbSNP: rs318240760
rs318240760
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.800 GeneticVariation UNIPROT WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 20887964 2010
dbSNP: rs318240760
rs318240760
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		A 0.800 CausalMutation CLINVAR
dbSNP: rs139007744
rs139007744
Entrez Id: 55717;105378519
Gene Symbol: WDR11;LOC105378519
WDR11;LOC105378519
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. 29263200 2018
dbSNP: rs144440500
rs144440500
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. 29263200 2018
dbSNP: rs201051480
rs201051480
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. 29263200 2018
dbSNP: rs318240761
rs318240761
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. 29263200 2018
dbSNP: rs761599645
rs761599645
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. 29263200 2018
dbSNP: rs139007744
rs139007744
Entrez Id: 55717;105378519
Gene Symbol: WDR11;LOC105378519
WDR11;LOC105378519
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 20887964 2010
dbSNP: rs144440500
rs144440500
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 20887964 2010
dbSNP: rs201051480
rs201051480
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 20887964 2010
dbSNP: rs318240761
rs318240761
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 20887964 2010
dbSNP: rs761599645
rs761599645
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
CUI: C3540450
Disease:
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 20887964 2010