Apert syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Apert syndrome 87, C0001193 FGFR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7581378, 7668257, 7719344, 7874170, 8696350, 8946174, 9002682, 9452027, 9502772, 9521581, 9677057, 10394936, 10406670, 10633130, 11121055, 11390973, 11781872, 14499350, 15190072, 15282208, 15975938, 16061565, 16418739, 16501574, 17694057, 18391498, 19186770, 22387015, 23348274, 23546041, 23593218, 24127277, 24489893, 24656465, 26380986, 27604308, 27683237, 28425981, 29037998 -
TWIST1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15923834, 23354436 -