Short rib-polydactyly syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Short Rib-Polydactyly Syndrome C0036996 CILK1 Causal Pathogenic evidence from ClinVar - ClinVar
DYNC2H1 Causal Pathogenic evidence from ClinVar 22499340 ClinVar
FLVCR1 Causal Pathogenic evidence from ClinVar - ClinVar
IFT43 Causal Pathogenic evidence from ClinVar - ClinVar
IFT52 Causal Pathogenic evidence from ClinVar - ClinVar
INTU Causal Pathogenic evidence from ClinVar - ClinVar
WDR35 Causal Pathogenic evidence from ClinVar - ClinVar
CEP120 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DYNC2I1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DYNC2I2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DYNC2LI1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DYNLT2B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IFT140 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IFT172 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KIAA0586 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NEK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21211617, 22499340 -
TTC21B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Short rib-polydactyly syndrome, Majewski type 93269 DYNC2H1 Causal Pathogenic evidence from ClinVar - ClinVar
NEK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TRAF3IP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Short rib-polydactyly syndrome, Saldino-Noonan type 93270 DYNC2H1 Causal Pathogenic evidence from ClinVar - ClinVar
Short rib-polydactyly syndrome, Verma-Naumoff type 93271, C0432197 DYNC2H1 Causal Pathogenic evidence from ClinVar 19442771, 22791528 ClinVar
WDR35 Causal Pathogenic evidence from ClinVar 21473986, 22791528 ClinVar
DYNC2I1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23910462 -
DYNC2I2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24183449 -
IFT80 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19648123, 22791528 -
SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY C4693420 IFT43 Causal Pathogenic evidence from ClinVar 21378380, 22791528, 26892345, 28400947, 29896747 ClinVar
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY C4693524 IFT81 Causal Pathogenic evidence from ClinVar 26275418, 27666822, 30080953 ClinVar
SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY C4693616 INTU Causal Pathogenic evidence from ClinVar 27158779, 29451301 ClinVar
Short rib-polydactyly syndrome type 5 498497 WDR35 Causal Pathogenic evidence from ClinVar - ClinVar
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY C3279792 WDR35 Causal Pathogenic evidence from ClinVar 17935248, 21473986, 22486404, 25908617, 25914204, 27158779, 28332779, 28400947, 29068549 ClinVar
SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC C4747658 WDR35 Causal Pathogenic evidence from ClinVar 17935248, 21473986 ClinVar
Short rib-polydactyly syndrome, Beemer type C0432198 EVC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IFT122 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28370949 -
IFT80 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30767363 -
NEK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TTC21B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
WDR19 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Short rib-polydactyly syndrome, Beemer-Langer type 93268 IFT122 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IFT80 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY C3151185 TTC21B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21258341, 24876116 -
TTC21B-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY C3280598 WDR19 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19430947, 22019273, 23559409, 23683095, 24504730, 25726036, 27596865, 28621010 -