Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
0.330 GeneticVariation disease BEFREE We describe a patient severely affected with multiple congenital anomalies, including brain malformations and skeletal dysplasia suggestive of cranioectodermal dysplasia (CED) ciliopathy, who unusually carries several homozygosity tracts involving homozygous missense mutations in SPAG17 (exon 8; c.1069G > C; p.Asp357His) and WDR35 (exon 13; c.1415G > A; p.Arg472Gln) as revealed by homozygosity mapping and next generation sequencing. 29174089 2018
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
0.330 GeneticVariation disease BEFREE A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35. 26691894 2016
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
0.330 Biomarker disease BEFREE This family represents a WDR35-ciliopathy with a complex clinical presentation that includes significant overlap of the phenotypes described in Sensenbrenner syndrome and the unclassified SRPs. 22987818 2012
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
0.330 Biomarker disease GENOMICS_ENGLAND