Disease Term Disease ID Gene Symbol Classification References Source
Hamartoma C0018552 ACTB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ACVR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CDC73 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CYP1A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21998131 -
DYNC2LI1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FLCN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12204536, 27072130 -
KLLN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NEK9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NTRK2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PTEN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SMO Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TCTN3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TFAP2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TSC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Hamartoma Syndrome, Multiple C0018553 AKT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23246288 -
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 -
KLLN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21177507 -
PIK3CA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15930273, 17376864, 18829572, 22120714, 22729224, 23246288, 27631024 -
PTEN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1097835, 4635800, 9140396, 9241266, 9256433, 9259288, 9286463, 9288766, 9345101, 9399897, 9425889, 9467011, 9600246, 9735393, 9797362, 9811831, 9832031, 9915974, 10051160, 10234502, 10353779, 10400993, 10468583, 10555148, 10698513, 10749983, 10772829, 10848731, 10866302, 10866658, 10923032, 11035045, 11230179, 11476841, 11494117, 11496368, 11685670, 11748304, 11918710, 12297295, 12471211, 14566704, 14574156, 15355975, 16007494, 16021145, 16619501, 17167516, 17286265, 17427195, 17526800, 17526801, 17942903, 18080326, 18716620, 19321504, 19719509, 19968660, 20712882, 21194675, 21291452, 21659347, 21828076, 21956414, 22252256, 22261759, 22266152, 22281088, 22503188, 22520842, 22595938, 22628360, 23117110, 23335809, 23399955, 23470840, 23475934, 23613428, 23886400, 24375884, 24379037, 24498881, 24778394, 24905788, 25336918, 25448482, 25527629, 25669429, 25756585, 26681312, 27477328, 28475857, 28677221, 29043291, 29444762, 29706350, 29785012 -
SDHB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SDHC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21979946 -
SDHD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SEC23B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26522472 -