Gastrointestinal stromal tumor

Disease Term Disease ID Gene Symbol Classification References Source
Gastrointestinal Stromal Sarcoma C3179349 KIT Causal Pathogenic evidence from ClinVar 9697690, 11073817, 11208730, 11505412, 11984533, 12754375, 14977822, 16061643, 16143141, 16740725, 17824795, 18098338, 18183595, 18724244, 20028860, 23730622, 27793025 ClinVar
PDGFRA Causal Pathogenic evidence from ClinVar 12522257, 14699510, 17087943, 17566086, 19217431, 20028860, 23730622, 25975287, 29486293 ClinVar
SDHA Causal Pathogenic evidence from ClinVar 21505157, 21997697, 23282968, 23730622 ClinVar
SDHB Causal Pathogenic evidence from ClinVar 21173220 ClinVar
SDHC Causal Pathogenic evidence from ClinVar 21173220 ClinVar
B9D1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
BOC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
C2CD3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
CC2D2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
CD3E Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
CDON Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
CTNNA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
DISP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
DMD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24793134 -
DYRK2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
ELP4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
FOXF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
GLI1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
GLI2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
GLI3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
GLIS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
Gastrointestinal stromal tumor 44890 KIT Causal Pathogenic evidence from ClinVar - ClinVar
PDGFRA Causal Pathogenic evidence from ClinVar - ClinVar
SDHA Causal Pathogenic evidence from ClinVar - ClinVar
SDHB Causal Pathogenic evidence from ClinVar - ClinVar
SDHC Causal Pathogenic evidence from ClinVar - ClinVar
Gastrointestinal Stromal Tumors C0238198 KIT Causal Pathogenic evidence from ClinVar 7529964, 9438854, 9697690, 9797363, 10224103, 10680913, 11073817, 11208730, 11505412, 11526490, 11984533, 12754375, 14977822, 15236194, 15685537, 15790786, 15824741, 15897563, 16061643, 16143141, 16226710, 16638875, 16731599, 16740725, 16751810, 16954519, 17001171, 17107413, 17124503, 17259998, 17363509, 17489795, 17699867, 17824795, 17943734, 18098338, 18183595, 18724244, 19164557, 19737976, 20028860, 20147452, 21569090, 21689725, 23582185, 23730622, 24687822, 25157968, 25504284, 27793025 ClinVar
PDGFRA Causal Pathogenic evidence from ClinVar 12522257, 12949711, 14645423, 14699510, 15146165, 15685537, 15928335, 16638875, 16954519, 17087936, 17087943, 17566086, 18794084, 19217431, 20028860, 22718859, 22745105, 23730622, 25157968, 25975287, 26130666, 29486293 ClinVar
SDHA Causal Pathogenic evidence from ClinVar 21505157, 21997697, 23282968, 23730622 ClinVar
SDHB Causal Pathogenic evidence from ClinVar 1523504, 1980289, 2308387, 7143317, 11404820, 12000816, 12618761, 14500403, 15328326, 15987702, 16304664, 16314641, 16317055, 16405730, 16472267, 16912137, 16916404, 17102082, 17102086, 17143317, 17200167, 17308434, 17652212, 17667967, 17943698, 18362451, 18382370, 18419787, 18728283, 18753105, 19001511, 19184535, 19189136, 19215943, 19258401, 19351833, 19411806, 19454582, 19694205, 19802898, 19825962, 19927285, 20119652, 20208144, 20418362, 20459544, 20503330, 20540712, 20583550, 20592014, 20614293, 21173220, 21348866, 21820839, 21934479, 22517554, 22835832, 22972948, 23072324, 23083876, 23175444, 23282968, 23512077, 23666964, 23797725, 23934599, 24436918, 24466223, 24509376, 24523625, 24694336, 24939699, 25047027, 25130709, 25298897, 25326637, 25371406, 25405498, 25683602, 25695889, 25736212, 25873086, 25972245, 26173966, 26236513, 26259135, 26267327, 26273102, 26642834, 26719882, 26925370, 27539324, 27549546, 27604308, 27604842, 27899189, 28349240, 28374168, 28490599, 28738844, 29386252 ClinVar
SDHC Causal Pathogenic evidence from ClinVar 11062460, 12658451, 15342702, 16249420, 17667967, 17898811, 19351833, 19454582, 21106325, 21173220, 22351710, 22517554, 22868853, 23083876, 23282968, 23666964, 24102379, 24402737, 24423348, 24523625, 24758179, 24781345, 27279923, 27700540 ClinVar
B9D1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
BOC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
BRAF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12068308, 19561230, 20818844, 21639808, 22608338, 23470635 -
C2CD3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
CC2D2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
CD19 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CD3E Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
CD81 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CDON Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
CR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CTNNA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
DISP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
DMD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24793134 -
DYRK2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
ELP4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
FOXF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
GLI1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
GLI2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -
GLI3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27793025 -