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Entry Name Description Category Pathway Gene
H00048 Hepatocellular carcinoma
Liver cancer
Hepatocellular carcinoma (HCC) is a major type of primary liver cancer and one of the rare human neoplasms etiologically linked to viral factors. It has been shown that, after HBV/HCV infection and alcohol ... Cancer hsa05225 Hepatocellular carcinoma TGFA (overexpression) [HSA:7039] [KO:K08774]
IGF2 (overexpression) [HSA:3481] [KO:K13769]
IGF1R (overexpression) [HSA:3480] [KO:K05087]
TERT (overexpression) [HSA:7015] [KO:K11126]
FZD7 (overexpression) [HSA:8324] [KO:K02432]
HGF (overexpression) [HSA:3082] [KO:K05460]
MET (mutation, overexpression) [HSA:4233] [KO:K05099]
MYC (amplification) [HSA:4609] [KO:K04377]
RB1 (loss) [HSA:5925] [KO:K06618]
CDKN2A (deletion) [HSA:1029] [KO:K06621]
TGFBR2 (reduced expression) [HSA:7048] [KO:K04388]
TP53 [HSA:7157] [KO:K04451]
PTEN [HSA:5728] [KO:K01110]
CTNNB1 [HSA:1499] [KO:K02105]
AXIN1 [HSA:8312] [KO:K02157]
KEAP1 [HSA:9817] [KO:K10456]
NFE2L2 [HSA:4780] [KO:K05638]
PIK3CA [HSA:5290] [KO:K00922]
ARID1A [HSA:8289] [KO:K11653]
ARID2 [HSA:196528] [KO:K11765]
CASP8 [HSA:841] [KO:K04398]
IGF2R [HSA:3482] [KO:K06564]
H00409 Type 2 diabetes mellitus Type 2 diabetes mellitus (T2DM) is characterized by chronic hyperglycemia due to insulin resistance of peripheral tissues (skeletal muscle, liver, adipose tissue) and insufficient compensatory insulin ... Endocrine and metabolic disease hsa04930 Type II diabetes mellitus IGF2BP2 [HSA:10644] [KO:K17392]
CAPN10 [HSA:11132] [KO:K08579]
SLC30A8 [HSA:169026] [KO:K14695]
KCNJ11 [HSA:3767] [KO:K05004]
MTNR1B [HSA:4544] [KO:K04286]
ENPP1 [HSA:5167] [KO:K01513]
PPARG [HSA:5468] [KO:K08530]
HNF1B [HSA:6928] [KO:K08034]
TCF7L2 [HSA:6934] [KO:K04491]
WFS1 [HSA:7466] [KO:K14020]
H00711 Russell-Silver syndrome
Silver-Russell syndrome
... hypomethylation at the telomeric imprinting control region (ICR1) on chromosome 11p15, involving the H19 and IGF2 genes. SRS2 is caused by maternal uniparental disomy of chromosome 7. The high proportion of patients ... Congenital malformation (SRS3) IGF2 [HSA:3481] [KO:K13769]
(SRS4) PLAG1 [HSA:5324] [KO:K19484]
(SRS5) HMGA2 [HSA:8091] [KO:K09283]
H00713 Beckwith-Wiedemann syndrome ... the CDKN1C gene. In the telomeric ICR1, hypermethylation of the H19 promoter and loss of imprinting of IGF2 have been reported in a small fraction of patients with BWS. A few BWS cases could be related to ... Congenital malformation CDKN1C [HSA:1028] [KO:K09993]
IGF2 [HSA:3481] [KO:K13769]
KCNQ1 [HSA:3784] [KO:K04926]
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