Disease Term Disease ID Gene Symbol Classification References Source
SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY C4694006 IFT81 Causal Pathogenic evidence from ClinVar - ClinVar
SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY C4694035 WDR35 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -