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Entry Name Description Category Pathway Gene
H00033 Adrenal carcinoma Adrenocortical carcinoma (ACC) is a rare endocrine malignancy defined by a heterogeneous clinical presentation, dismal prognosis, and lack of effective therapeutic regimens. The incidence of ACC ranges ... Cancer ACTH-R (deletion) [HSA:4158] [KO:K04200]
GNAI2 (mutation) [HSA:2771] [KO:K04630]
N-ras (mutation) [HSA:4893] [KO:K07828]
IGF II (overexpression) [HSA:3481] [KO:K13769]
p53 (LOH, mutation) [HSA:7157] [KO:K04451]
p16/INK4A (LOH, low expression) [HSA:1028] [KO:K09993]
MEN1 (LOH, mutation) [HSA:4221] [KO:K14970]
H02269 Familial ventricular tachycardia Sudden cardiac death resulting from ventricular tachyarrhythmia represents a major healthcare issue. Familial ventricular tachycardia is usually attributable to recognized conditions such as arrhythmogenic ... Cardiovascular disease GNAI2 [HSA:2771] [KO:K04630]
H02434 Diffuse large B-cell lymphoma, not otherwise specified ... frequent mutations in involved histone methylation or acetylation (EZH2, EP300), B-cell homing (GNA13, GNAI2), PI3K pathway signalling (PTEN), and apoptotic pathway (BCL2). In contrast, ABC subtype is driven ... Cancer EZH2 (mutation) [HSA:2146] [KO:K11430]
CREBBP (mutation/deletion) [HSA:1387] [KO:K04498]
EP300 (mutation/deletion) [HSA:2033] [KO:K04498]
GNA13 (mutation) [HSA:10672] [KO:K04639]
GNAI2 (mutation) [HSA:2768] [KO:K04346]
TNFRSF14 (mutation) [HSA:8764] [KO:K05152]
BCL6 (mutation) [HSA:604] [KO:K15618]
MYC (chromosomal translocation) [HSA:4609] [KO:K04377]
PTEN (deletion) [HSA:5728] [KO:K01110]
BCL2 (chromosomal translocation / mutation) [HSA:596] [KO:K02161]
CARD11 (mutation) [HSA:84433] [KO:K07367]
CD79A (mutation) [HSA:973] [KO:K06506]
CD79B (mutation) [HSA:974] [KO:K06507]
TNFAIP3 (mutation/deletion) [HSA:7128] [KO:K11859]
MYD88 (mutation) [HSA:4615] [KO:K04729]
CDKN2A (deletion) [HSA:1029] [KO:K06621]
CDKN2B (deletion) [HSA:1030] [KO:K04685]
PRDM1 (mutation/deletion) [HSA:639] [KO:K24501]
MLL2 (mutation) [HSA:8085] [KO:K09187]
MLL3 (mutation) [HSA:58508] [KO:K09188]
B2M (mutation/deletion) [HSA:567] [KO:K08055]
CD58 (mutation/deletion) [HSA:965] [KO:K06492]
TP53 (mutation) [HSA:7157] [KO:K04451]
MEF2B (mutation) [HSA:100271849] [KO:K09261]
FOXO1 (mutation) [HSA:2308] [KO:K07201]
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