WDR11, WD repeat domain 11, 55717

N. diseases: 179; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.740 Biomarker disease BEFREE WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. 29263200 2018
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.740 Biomarker disease GENOMICS_ENGLAND Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.740 Biomarker disease BEFREE WDR11 was linked to idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 26114870 2015
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.740 Biomarker disease BEFREE The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 21856375 2011
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.740 GermlineCausalMutation disease ORPHANET WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 20887964 2010
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.740 AlteredExpression disease BEFREE WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 20887964 2010
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.740 Biomarker disease MGD
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.740 Biomarker disease GENOMICS_ENGLAND
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 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 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 CausalMutation disease CLINVAR
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: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.340 Biomarker disease BEFREE WDR11 was linked to idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 26114870 2015
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.340 Biomarker disease BEFREE DNA from IHH/KS patients was subjected to polymerase chain reaction-based DNA sequencing of the 13 most common genes (KAL1, GNRHR, FGFR1, KISS1R, TAC3, TACR3, FGF8, PROKR2, PROK2, CHD7, NELF, GNRH1, and WDR11). 22035731 2011
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.340 GeneticVariation disease BEFREE In addition, WDR11 was recently identified by positional cloning; and mutations in were identified in IHH/KS patients, suggesting a role for this gene in normal puberty. 21856375 2011
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.340 GeneticVariation disease BEFREE WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 20887964 2010
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.340 Biomarker disease CTD_human
CUI: C0013146
Disease: Drug abuse
Drug abuse 		0.310 Biomarker group BEFREE Whereas, the CALN1, KAT2B, and WDR11 were previously associated with schizophrenia (SZ), bipolar (BP) and drug abuse. 30738099 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease BEFREE Whereas, the CALN1, KAT2B, and WDR11 were previously associated with schizophrenia (SZ), bipolar (BP) and drug abuse. 30738099 2019
CUI: C4053775
Disease: Pituitary stalk interruption syndrome
Pituitary stalk interruption syndrome 		0.310 GeneticVariation disease BEFREE Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome. 28453858 2017
CUI: C4053775
Disease: Pituitary stalk interruption syndrome
Pituitary stalk interruption syndrome 		0.310 GeneticVariation disease ORPHANET A Novel Ligand of Toll-like Receptor 4 From the Sheath of Wuchereria bancrofti Microfilaria Induces Proinflammatory Response in Macrophages. 28453850 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease CTD_human Exome sequencing supports a de novo mutational paradigm for schizophrenia. 21822266 2011
CUI: C0013146
Disease: Drug abuse
Drug abuse 		0.310 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010