Multiple pterygium syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Autosomal recessive multiple pterygium syndrome 2990 CHRNG Causal Pathogenic evidence from ClinVar - ClinVar
MYH3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Multiple pterygium syndrome C0265261 CHRNG Causal Pathogenic evidence from ClinVar 16826520, 16826531, 22167768, 27843868 ClinVar
MYH3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29805041 -
RYR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26932181 -
TPM2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23413262 -
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE C1854678 CHRNG Causal Pathogenic evidence from ClinVar 16826520, 16826531, 27843868 ClinVar
CHRNA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 6287911, 7619526, 9158151, 18252226, 24121633, 27748205, 30177536 -
CHRND Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16916845, 18252226 -
NEB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28336317 -
RAPSN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RYR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26932181 -
Autosomal dominant multiple pterygium syndrome 65743 MYH3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Multiple Pterygium Syndrome, Autosomal Dominant C1867440 MYH3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25957469, 26578207, 27381093, 29314551 -