Pten hamartoma tumor syndrome

Disease Term Disease ID Gene Symbol Classification References Source
PTEN Hamartoma Tumor Syndrome C1959582 PTEN Causal Pathogenic evidence from ClinVar 1097835, 4635800, 8071972, 9140396, 9241266, 9256433, 9259288, 9286463, 9288766, 9399897, 9425889, 9467011, 9600246, 9619835, 9697695, 9735393, 9832032, 9856571, 9915974, 10076877, 10232405, 10234502, 10353779, 10400993, 10468583, 10555148, 10749983, 10777358, 10848731, 10866302, 10920277, 11052475, 11071384, 11238682, 11476841, 11496368, 11685670, 11748304, 11875759, 11918710, 12471211, 12614768, 14566704, 14574156, 14675182, 14724591, 15372512, 15805158, 15987703, 16007494, 16021145, 16704655, 16752378, 16773562, 16894538, 17043057, 17218261, 17286265, 17324556, 17392703, 17427195, 17526800, 17526801, 17873119, 17898811, 17942903, 18558293, 19265751, 19321504, 19457929, 19968660, 20194734, 20223021, 20533527, 20600018, 20712882, 20718038, 20926450, 20962022, 21103832, 21194575, 21194675, 21659347, 21822720, 21828076, 21956414, 22252256, 22261759, 22266152, 22327138, 22595938, 22628360, 23160955, 23335809, 23399955, 23423780, 23442912, 23470840, 23475934, 23633456, 23886400, 23934111, 24102544, 24345843, 243 ClinVar
EGFR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FGFR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9002682 -
PIK3CA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -