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Entry Name Description Category Pathway Gene
H00018 Gastric cancer Gastric cancer (GC) is one of the world's most common cancers. According to Lauren's histological classification gastric cancer is divided into two distinct histological groups - the intestinal and diffuse ... Cancer hsa05226 Gastric cancer CDX2 (overexpression) [HSA:1045] [KO:K22234]
TERT (overexpression) [HSA:7015] [KO:K11126]
RARB (reduced expression) [HSA:5915] [KO:K08528]
CDKN1B (reduced expression) [HSA:1027] [KO:K06624]
TGFBR1 (reduced expression) [HSA:7046] [KO:K04674]
ERBB2 (amplification) [HSA:2064] [KO:K05083]
CCNE1 (amplification) [HSA:898] [KO:K06626]
MET (amplification) [HSA:4233] [KO:K05099]
FGFR2 (amplification) [HSA:2263] [KO:K05093]
MLH1 (methylation) [HSA:4292] [KO:K08734]
TP53 [HSA:7157] [KO:K04451]
APC [HSA:324] [KO:K02085]
CTNNB1 [HSA:1499] [KO:K02105]
KRAS [HSA:3845] [KO:K07827]
NRAS [HSA:4893] [KO:K07828]
CDH1 [HSA:999] [KO:K05689]
MUTYH [HSA:4595] [KO:K03575]
PIK3CA [HSA:5290] [KO:K00922]
H00020 Colorectal cancer Colorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in defined ... Cancer hsa05210 Colorectal cancer (HNPCC) MLH1 [HSA:4292] [KO:K08734]
(HNPCC) MLH3 [HSA:27030] [KO:K08739]
(HNPCC) MSH2 [HSA:4436] [KO:K08735]
(HNPCC) MSH6 [HSA:2956] [KO:K08737]
(HNPCC) TGFBR2 [HSA:7048] [KO:K04388]
(FAP) APC [HSA:324] [KO:K02085]
(FAP) MSH3 [HSA:4437] [KO:K08736]
(PPAP) POLD1 [HSA:5424] [KO:K02327]
(PPAP) POLE [HSA:5426] [KO:K02324]
DCC [HSA:1630] [KO:K06765]
KRAS [HSA:3845] [KO:K07827]
GALNT12 [HSA:79695] [KO:K00710]
SMAD7 [HSA:4092] [KO:K19631]
SMAD4 [HSA:4089] [KO:K04501]
SMAD2 [HSA:4087] [KO:K04500]
BAX [HSA:581] [KO:K02159]
AXIN2 [HSA:8313] [KO:K04385]
BRAF [HSA:673] [KO:K04365]
CCND1 [HSA:595] [KO:K04503]
CHEK2 [HSA:11200] [KO:K06641]
CTNNB1 [HSA:1499] [KO:K02105]
FLCN [HSA:201163] [KO:K09594]
PIK3CA [HSA:5290] [KO:K00922]
TP53 [HSA:7157] [KO:K04451]
BUB1 [HSA:699] [KO:K02178]
BUB1B [HSA:701] [KO:K06637]
AURKA [HSA:6790] [KO:K11481]
EGF (overexpression) [HSA:1950] [KO:K04357]
TGFA (overexpression) [HSA:7039] [KO:K08774]
EREG (overexpression) [HSA:2069] [KO:K09784]
AREG (overexpression) [HSA:374] [KO:K09782]
H00026 Endometrial cancer Endometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endometrial ... Cancer hsa05213 Endometrial cancer ERBB2 (amplification) [HSA:2064] [KO:K05083]
PTEN (mutation, deletions, methylation) [HSA:5728] [KO:K01110]
MLH1 (mutation, methylation) [HSA:4292] [KO:K08734]
KRAS [HSA:3845] [KO:K07827]
CTNNB1 [HSA:1499] [KO:K02105]
TP53 [HSA:7157] [KO:K04451]
MSH3 [HSA:4437] [KO:K08736]
CDH1 [HSA:999] [KO:K05689]
H00027 Ovarian cancer Ovarian cancer is the sixth most common cancer and the fifth leading cause of cancer-related death among women in developed countries. Approximately 90% of human ovarian cancer arises within the ovarian ... Cancer BRCA1 (germline mutation / deletion) [HSA:672] [KO:K10605]
BRCA2 (germline mutation / deletion) [HSA:675] [KO:K08775]
MSH2 (germline mutation) [HSA:4436] [KO:K08735]
MLH1 (germline mutation) [HSA:4292] [KO:K08734]
ERBB2 (amplification / overexpression) [HSA:2064] [KO:K05083]
K-ras (mutation) [HSA:3845] [KO:K07827]
AKT2 (amplification) [HSA:208] [KO:K04456]
PIK3CA (amplification) [HSA:5290] [KO:K00922]
c-MYC (overexpression) [HSA:4609] [KO:K04377]
p53 (mutation / deletion, overexpression) [HSA:7157] [KO:K04451]
CTNNB1 [HSA:1499] [KO:K02105]
PRKN [HSA:5071] [KO:K04556]
OPCML [HSA:4978] [KO:K06773]
AKT1 [HSA:207] [KO:K04456]
CDH1 [HSA:999] [KO:K05689]
H00032 Thyroid cancer Thyroid cancer is the most common endocrine malignancy and accounts for the majority of endocrine cancer- related deaths each year. More than 95% of thyroid carcinomas are derived from follicular cells ... Cancer hsa05216 Thyroid cancer RET/CCDC6 (rearrangement) [HSA:5979 8030] [KO:K05126 K09288]
RET/NCOA4 (rearrangement) [HSA:5979 8031] [KO:K05126 K09289]
TPM3/NTRK1 (rearrangement) [HSA:4914 7170] [KO:K03176 K09290]
TPR/NTRK1 (rearrangement) [HSA:7175 7170] [KO:K09291 K09290]
TFG/NTRK1 (rearrangement) [HSA:10342 7170] [KO:K09292 K09290]
PAX8/PPARG (rearrangement) [HSA:7849 5468] [KO:K09293 K08530]
KRAS [HSA:3845] [KO:K07827]
HRAS [HSA:3265] [KO:K02833]
NRAS [HSA:4893] [KO:K07828]
BRAF [HSA:673] [KO:K04365]
CTNNB1 [HSA:1499] [KO:K02105]
TP53 [HSA:7157] [KO:K04451]
CDH1 [HSA:999] [KO:K05689]
MINPP1 [HSA:9562] [KO:K03103]
(NMTC1) NKX2-1 [HSA:7080] [KO:K09342]
(NMTC2) SRGAP1 [HSA:57522] [KO:K07526]
(NMTC4) FOXE1 [HSA:2304] [KO:K09398]
(NMTC5) HABP2 [HSA:3026] [KO:K08648]
H00048 Hepatocellular carcinoma
Liver cancer 		... processes, including telomere maintenance, TP53, cell cycle regulation, the Wnt/beta-catenin pathway (CTNNB1 and AXIN1), the phosphatidylinositol-3 kinase (PI3K)/AKT/mammalian target of rapamycin (mTOR) ... 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]
H00589 Familial exudative vitreoretinopathy Familial exudative vitreoretinopathy (FEVR) is inherited retinal disorders with ocular manifestations that are caused by alterations in the Wnt signaling network. FEVR has an abnormal vascularization of ... Nervous system disease (EVR1) FZD4 [HSA:8322] [KO:K02354]
(EVR2) NDP [HSA:4693] [KO:K25688]
(EVR4) LRP5 [HSA:4041] [KO:K03068]
(EVR5) TSPAN12 [HSA:23554] [KO:K17355]
(EVR6) ZNF408 [HSA:79797] [KO:K24372]
(EVR7) CTNNB1 [HSA:1499] [KO:K02105]
H00773 Autosomal dominant intellectual developmental disorder
Autosomal dominant mental retardation 		Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. Most ... Mental and behavioural disorder (MRD1) MBD5 [HSA:55777] [KO:K23219]
(MRD2) DOCK8 [HSA:81704] [KO:K21852]
(MRD3) CDH15 [HSA:1013] [KO:K06809]
(MRD4) KIRREL3 [HSA:84623] [KO:K25874]
(MRD5) SYNGAP1 [HSA:8831] [KO:K17631]
(MRD6) GRIN2B [HSA:2904] [KO:K05210]
(MRD7) DYRK1A [HSA:1859] [KO:K08825]
(MRD8) GRIN1 [HSA:2902] [KO:K05208]
(MRD9) KIF1A [HSA:547] [KO:K10392]
(MRD10) CACNG2 [HSA:10369] [KO:K04867]
(MRD11) EPB41L1 [HSA:2036] [KO:K23961]
(MRD12) ARID1B [HSA:57492] [KO:K11653]
(MRD13) DYNC1H1 [HSA:1778] [KO:K10413]
(MRD14) ARID1A [HSA:8289] [KO:K11653]
(MRD15) SMARCB1 [HSA:6598] [KO:K11648]
(MRD16) SMARCA4 [HSA:6597] [KO:K11647]
(MRD17) PACS1 [HSA:55690] [KO:K23290]
(MRD18) GATAD2B [HSA:57459] [KO:K23194]
(MRD19) CTNNB1 [HSA:1499] [KO:K02105]
(MRD20) MEF2C [HSA:4208] [KO:K04454]
(MRD21) CTCF [HSA:10664] [KO:K23195]
(MRD22) ZBTB18 [HSA:10472] [KO:K23196]
(MRD23) SETD5 [HSA:55209] [KO:K23216]
(MRD24) DEAF1 [HSA:10522] [KO:K23041]
(MRD25) AHDC1 [HSA:27245] [KO:K22592]
(MRD26) AUTS2 [HSA:26053] [KO:K23214]
(MRD27) SOX11 [HSA:6664] [KO:K09268]
(MRD29) SETBP1 [HSA:26040] [KO:K23217]
(MRD30) ZMYND11 [HSA:10771] [KO:K23218]
(MRD31) PURA [HSA:5813] [KO:K21772]
(MRD32) KAT6A [HSA:7994] [KO:K11305]
(MRD33) DPP6 [HSA:1804] [KO:K23013]
(MRD34) COL4A3BP [HSA:10087] [KO:K08283]
(MRD35) PPP2R5D [HSA:5528] [KO:K11584]
(MRD36) PPP2R1A [HSA:5518] [KO:K03456]
(MRD38) EEF1A2 [HSA:1917] [KO:K03231]
(MRD39) MYT1L [HSA:23040] [KO:K23193]
(MRD40) CHAMP1 [HSA:283489] [KO:K22593]
(MRD41) TBL1XR1 [HSA:79718] [KO:K04508]
(MRD42) GNB1 [HSA:2782] [KO:K04536]
(MRD43) HIVEP2 [HSA:3097] [KO:K09239]
(MRD44/63) TRIO [HSA:7204] [KO:K08810]
(MRD45) CIC [HSA:23152] [KO:K20225]
(MRD46) KCNQ5 [HSA:56479] [KO:K04930]
(MRD47) STAG1 [HSA:10274] [KO:K06671]
(MRD48) RAC1 [HSA:5879] [KO:K04392]
(MRD49) TRIP12 [HSA:9320] [KO:K10590]
(MRD50) NAA15 [HSA:80155] [KO:K20792]
(MRD51) KMT5B [HSA:51111] [KO:K11429]
(MRD52) ASH1L [HSA:55870] [KO:K06101]
(MRD53) CAMK2A [HSA:815] [KO:K04515]
(MRD54) CAMK2B [HSA:816] [KO:K04515]
(MRD55) NUS1 [HSA:116150] [KO:K19177]
(MRD56) CLTC [HSA:1213] [KO:K04646]
(MRD57) TLK2 [HSA:11011] [KO:K08864]
(MRD58) SET [HSA:6418] [KO:K11290]
(MRD59) CAMK2G [HSA:818] [KO:K04515]
(MRD60) AP2M1 [HSA:1173] [KO:K11826]
(MRD61) MED13 [HSA:9969] [KO:K15164]
(MRD62) DLG4 [HSA:1742] [KO:K11828]
(MRD64) ZNF292 [HSA:23036] [KO:K26728]
(MRD65) KDM4B [HSA:23030] [KO:K06709]
(MRD66) ATP2B1 [HSA:490] [KO:K05850]
(MRD67) GRIA1 [HSA:2890] [KO:K05197]
(MRD68) KMT2B [HSA:9757] [KO:K14959]
(MRD69) LMAN2L [HSA:81562] [KO:K10083]
(MRD70) SETD2 [HSA:29072] [KO:K11423]
(MRD71) RFX7 [HSA:64864] [KO:K09175]
(MRD72) SRRM2 [HSA:23524] [KO:K13172]
(MRD73) TAF4 [HSA:6874] [KO:K03129]
(MRD74) HNRNPC [HSA:3183] [KO:K12884]
H00947 Pilomatricoma
Epithelioma calcificans of Malherbe 		Pilomatricoma is a benign cutaneous tumor of follicular structures. It occurs either in isolation or in conjunction with other symptoms such as myotonic dystrophy and Rubenstein-Taybi syndrome. The histologic ... Neoplasm CTNNB1 [HSA:1499] [KO:K02105]
H01667 Medulloblastoma ... hedgehog), Group 3, and Group 4]. Nearly all (90 %) of WNT patients have somatic missense mutations in CTNNB1 which promote protein stabilization. Alterations in SHH subgroup most often fall within the Shh ... Cancer PTCH1 [HSA:5727] [KO:K06225]
PTCH2 [HSA:8643] [KO:K11101]
ELP1 [HSA:8518] [KO:K11373]
SUFU [HSA:51684] [KO:K06229]
SMO [HSA:6608] [KO:K06226]
AXIN1 [HSA:8312] [KO:K02157]
AXIN2 [HSA:8313] [KO:K04385]
APC [HSA:324 10297] [KO:K02085]
CTNNB1 [HSA:1499] [KO:K02105]
TP53 [HSA:7157] [KO:K04451]
NF2 [HSA:4771] [KO:K16684]
MEN1 [HSA:4221] [KO:K14970]
KDM6A [HSA:7403] [KO:K11447]
MYC (amplification) [HSA:4609] [KO:K04377]
OTX2 (amplification) [HSA:5015] [KO:K18490]
TERT (amplification) [HSA:7015] [KO:K11126]
MDM2 (amplification) [HSA:4193] [KO:K06643]
H02301 Nephroblastoma
Wilms tumor 		... transcription factor, was identified as the first nephroblastoma gene. Several other genes including CTNNB1, WTX, and TP53 have also been implicated in various stages of tumorigenesis of nephroblastoma Cancer (WT1) WT1 [HSA:7490] [KO:K09234]
(WT5) POU6F2 [HSA:11281] [KO:K09368]
(WT6) REST [HSA:5978] [KO:K09222]
CTNNB1 [HSA:1499] [KO:K02105]
TP53 [HSA:7157] [KO:K04451]
BRCA2 [HSA:675] [KO:K08775]
GPC3 [HSA:2719] [KO:K08109]
H02302 Hepatoblastoma ... The Wnt signaling pathway is activated often by acquired activating mutations of the beta-catenin (CTNNB1) gene, and less commonly through constitutional mutations of the APC gene or somatic mutations ... Cancer CTNNB1 (mutation) [HSA:1499] [KO:K02105]
APC (mutation) [HSA:324] [KO:K02085]
AXIN2 (mutation) [HSA:8313] [KO:K04385]
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