Juvenile polyposis syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Juvenile Polyposis Coli C1868081 SMAD4 Causal Pathogenic evidence from ClinVar 9482899, 9506519, 9545410, 9582123, 14534577, 15235019, 18823382, 25680269 ClinVar
BMPR1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11381269, 11536076, 15378062, 17325551, 18823382 -
ENG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16287957, 17204053, 18178612, 23399955, 27127133 -
JUVENILE POLYPOSIS OF STOMACH C1832940 SMAD4 Causal Pathogenic evidence from ClinVar 9482899, 9506519, 9545410, 9582123, 14534577, 15235019, 18823382, 25680269 ClinVar
BMPR1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11381269, 11536076, 15378062, 17325551, 18823382 -
ENG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16287957, 17204053, 18178612, 23399955, 27127133 -
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) C1832942 SMAD4 Causal Pathogenic evidence from ClinVar 15031030, 16246179, 21465659, 25931195, 29650961 ClinVar