rs1558342399, WDR35

N. diseases: 2
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
0.700 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-Polydactyly Syndrome
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
0.700 GeneticVariation CLINVAR