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