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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/114550
http://purl.bioontology.org/ontology/OMIM/114550
|
|---|---|
| Preferred Name | HEPATOCELLULAR CARCINOMA |
| Synonyms |
HEPATOBLASTOMA CAUSED BY SOMATIC MUTATION
LIVER CELL CARCINOMA
HEPATOMA
LIVER CANCER
HCC
LCC
CANCER, HEPATOCELLULAR
HEPATOBLASTOMA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HEPATOBLASTOMA CAUSED BY SOMATIC MUTATION
LIVER CELL CARCINOMA
HEPATOMA
LIVER CANCER
HCC
LCC
CANCER, HEPATOCELLULAR
HEPATOBLASTOMA
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|
|---|---|
| prefLabel |
HEPATOCELLULAR CARCINOMA
|
| Gene Symbol |
APC
FPC
GS
BTPS2
DESMD
|
| notation |
114550
|
| Scope Statement |
Associated with mutation in the MET protooncogene (MET, 164860.0008) [MOLECULAR BASIS]
Associated with mutation in the beta-1 catenin gene (CTNNB1, 116806.0013) [MOLECULAR BASIS]
Genetic heterogeneity [MISCELLANEOUS]
Associated with mutation in the p53 tumor protein gene (TP53, 191170.0006) [MOLECULAR BASIS]
|
| OMIM MimType Value |
pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type |
3
|
| Moved from |
142333
142380
|
| type | |
| Has manifestation | |
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
| Gene Locus |
5q22.2
|
| tui |
T191
|
| cui |
C2676033
C2239176
C0345904
C0206624
|
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