Jeune thoracic dystrophy

Disease Term Disease ID Gene Symbol Classification References Source
Jeune thoracic dystrophy C0265275 DYNC2H1 Causal Pathogenic evidence from ClinVar 19442771, 22499340, 23339108, 23456818, 27925158, 29068549 ClinVar
DYNC2I2 Causal Pathogenic evidence from ClinVar 24183449, 24183451 ClinVar
EVC2 Causal Pathogenic evidence from ClinVar - ClinVar
FLVCR1 Causal Pathogenic evidence from ClinVar - ClinVar
IFT140 Causal Pathogenic evidence from ClinVar 22503633, 23418020, 24009529 ClinVar
IFT80 Causal Pathogenic evidence from ClinVar 17468754 ClinVar
IFT81 Causal Pathogenic evidence from ClinVar - ClinVar
KIAA0586 Causal Pathogenic evidence from ClinVar - ClinVar
KIAA0753 Causal Pathogenic evidence from ClinVar 29138412 ClinVar
LBR Causal Pathogenic evidence from ClinVar - ClinVar
SLTM Causal Pathogenic evidence from ClinVar - ClinVar
TRAF3IP1 Causal Pathogenic evidence from ClinVar - ClinVar
TTC21B Causal Pathogenic evidence from ClinVar 21258341, 22791528, 24876116 ClinVar
WDR19 Causal Pathogenic evidence from ClinVar 22019273, 22791528 ClinVar
WDR35 Causal Pathogenic evidence from ClinVar - ClinVar
CEP120 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25361962, 29847808 -
CFAP410 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23105016, 26167768 -
DYNC2I1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23910462, 25492405, 26874042, 29271569 -
DYNC2LI1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26077881 -
IFT172 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24140113 -
RNF111 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TTC21B-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21258341, 24876116 -