loading...| Preferred Name |
GASTROINTESTINAL STROMAL TUMOR |
|
| Synonyms |
GIST |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/606764 |
|
| altLabel |
GIST |
|
| cui |
C0238198 |
|
| Gene Locus |
1q21 |
|
| Gene Symbol |
SDHC PGL3 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU022260 http://purl.bioontology.org/ontology/OMIM/MTHU001136 http://purl.bioontology.org/ontology/OMIM/MTHU022262 http://purl.bioontology.org/ontology/OMIM/MTHU022261 http://purl.bioontology.org/ontology/OMIM/MTHU001907 http://purl.bioontology.org/ontology/OMIM/MTHU036443 http://purl.bioontology.org/ontology/OMIM/MTHU002088 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
162220 |
|
| notation |
606764 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
GASTROINTESTINAL STROMAL TUMOR |
|
| Scope Statement |
Both germline (familial) and somatic (sporadic) mutation in KIT (164920) and PDGFRA (173490) have been found [MISCELLANEOUS] Tumors usually develop between 40 and 60 years of age [MISCELLANEOUS] Caused by mutation in the platelet-derived growth factor receptor alpha gene (PDGFRA, 173490.0001) [MOLECULAR BASIS] Caused by mutation in the V-KIT Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog gene (KIT, 164920.0011) [MOLECULAR BASIS] |
|
| tui |
T191 |