WDR11, WD repeat domain 11, 55717

N. diseases: 179; N. variants: 8
Disease: HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3540450
Disease: HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation disease UNIPROT WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 20887964 2010
CUI: C3540450
Disease: HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation disease UNIPROT WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. 29263200 2018
CUI: C3540450
Disease: HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3540450
Disease: HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 Biomarker disease CTD_human
CUI: C3540450
Disease: HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 Biomarker disease GENOMICS_ENGLAND Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism. 25064402 2014
CUI: C3540450
Disease: HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		0.700 CausalMutation disease CLINVAR