WDR35, WD repeat domain 35, 57539

N. diseases: 188; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome
0.420 GeneticVariation disease BEFREE The mutation of WDR35 may lead to short rib-polydactyly syndrome (SRP), asphyxiating thoracic dystrophy (ATD, Jeune syndrome) and Ellis van Creveld syndrome. 30790652 2019
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome
0.420 GeneticVariation disease BEFREE Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. 21473986 2011
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome
0.420 GeneticVariation disease CLINVAR
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome
0.420 Biomarker disease CTD_human