Short-rib thoracic dysplasia with or without polydactyly

Disease Term Disease ID Gene Symbol Classification References Source
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY C4225378 CEP120 Causal Pathogenic evidence from ClinVar 25361962, 27208211, 29847808 ClinVar
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY C3809691 DYNC2I1 Causal Pathogenic evidence from ClinVar 23910462, 25492405, 26874042, 29271569 ClinVar
SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY C3810200 DYNC2I2 Causal Pathogenic evidence from ClinVar 24183449, 24183451 ClinVar
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY C4310724 DYNC2LI1 Causal Pathogenic evidence from ClinVar 26077881, 26130459 ClinVar
SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY C4479416 DYNLT2B Causal Pathogenic evidence from ClinVar 25830415, 26044572, 28475963 ClinVar
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY C3810175 IFT172 Causal Pathogenic evidence from ClinVar 24140113 ClinVar
KRTCAP3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY C4310718 IFT52 Causal Pathogenic evidence from ClinVar 26880018, 27466190, 30242358, 31042281 ClinVar
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY C4225286 KIAA0586 Causal Pathogenic evidence from ClinVar 26026149, 26096313, 26166481, 26386044, 26386247, 26437029, 28497568 ClinVar