Asphyxiating thoracic dystrophy

Disease Term Disease ID Gene Symbol Classification References Source
Asphyxiating Thoracic Dystrophy 1 C4551856 BBS10 Causal Pathogenic evidence from ClinVar - ClinVar
DYNC2H1 Causal Pathogenic evidence from ClinVar - ClinVar
DYNC2LI1 Causal Pathogenic evidence from ClinVar - ClinVar
DYNLT2B Causal Pathogenic evidence from ClinVar - ClinVar
FAM98C Causal Pathogenic evidence from ClinVar - ClinVar
NEK1 Causal Pathogenic evidence from ClinVar - ClinVar
TMEM256 Causal Pathogenic evidence from ClinVar - ClinVar
TTC21B Causal Pathogenic evidence from ClinVar 21258341 ClinVar
ATD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TMEM256-PLSCR3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Saldino-Noonan Syndrome C0036069 DYNC2H1 Causal Pathogenic evidence from ClinVar 19361615, 19442771, 21211617, 22499340, 23456818, 26938784, 27925158, 29458881 ClinVar
DYNC2I1 Causal Pathogenic evidence from ClinVar - ClinVar
DYNC2I2 Causal Pathogenic evidence from ClinVar - ClinVar
DYNC2LI1 Causal Pathogenic evidence from ClinVar - ClinVar
DYNLT2B Causal Pathogenic evidence from ClinVar - ClinVar
NEK1 Causal Pathogenic evidence from ClinVar 21211617, 22499340 ClinVar
TTC21B Causal Pathogenic evidence from ClinVar - ClinVar
C2CD3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24997988, 26044959, 27094867 -
CEP120 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 - -
IFT52 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 - -
WDR35 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Asphyxiating Thoracic Dystrophy 2 C1970005 IFT80 Causal Pathogenic evidence from ClinVar 17468754, 19610081 ClinVar