rs200649783, WDR35

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
0.800 GeneticVariation CLINVAR Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. 28400947 2017
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
0.800 GeneticVariation UNIPROT Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. 28400947 2017
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
0.800 GeneticVariation CLINVAR The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. 27158779 2016
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
0.800 GeneticVariation UNIPROT The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. 27158779 2016
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
CUI: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
0.800 GeneticVariation UNIPROT Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. 21473986 2011
Jeune thoracic dystrophy
CUI: C0265275
Disease: Jeune thoracic dystrophy
0.700 CausalMutation CLINVAR
SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC
CUI: C4747658
Disease: SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC
0.700 CausalMutation CLINVAR
Short Rib-Polydactyly Syndrome
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
0.700 GeneticVariation CLINVAR
SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY
CUI: C4694035
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY
0.700 CausalMutation CLINVAR