Polyposis syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Juvenile polyposis syndrome C0345893 BMPR1A Causal Pathogenic evidence from ClinVar 8397373, 11381269, 11536076, 12136244, 12417513, 12630959, 15235019, 15378062, 16436638, 16525031, 16685657, 17325551, 18823382, 19438883, 20843829, 21872883, 22067610, 22993021, 23331837, 23399955, 23433720, 23539595 ClinVar
SMAD4 Causal Pathogenic evidence from ClinVar 9214508, 9389648, 9482899, 9506519, 9545410, 9582123, 9811934, 10764709, 10797267, 11583957, 12417513, 12821112, 14526373, 14534577, 15014009, 15031030, 15235019, 15754356, 16152648, 16246179, 16287957, 16436638, 16613914, 17362581, 17873119, 18178612, 18355998, 18823382, 19135894, 20101697, 21572342, 22158539, 22243968, 22316667, 22585601, 22683461, 22748914, 22810475, 23239472, 23399955, 24398790, 24424121, 24715504, 25680269, 26636501, 26681312, 27302097, 27375208, 27595937, 28944238 ClinVar
ENG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16287957, 17204053, 18178612, 23399955, 27127133 -
PTEN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16685657, 22993021, 23331837 -