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Online Mendelian Inheritance in Man
Last uploaded:
August 28, 2024
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| Preferred Name | ENDOMETRIAL CANCER | |
| Synonyms |
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|
| ID |
http://purl.bioontology.org/ontology/OMIM/608089 |
|
| cui |
C0476089
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|
| Gene Locus |
14q24.3
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|
| Gene Symbol |
HNPCC7 MLH3
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| Has manifestation | ||
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
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|
| notation |
608089
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|
| OMIM Entry Type |
3
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|
| OMIM MimType Value |
pound
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|
| prefLabel |
ENDOMETRIAL CANCER
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|
| Scope Statement |
Caused by somatic mutation in the mutS homolog 6 gene (MSH6, 600678.0005) [MOLECULAR BASIS] Often seen in cancer predisposition syndromes such as hereditary nonpolyposis colorectal cancer (see 614350 and 604395) [MISCELLANEOUS] Caused by somatic mutation in the cadherin 1 gene (CDH1, 192090.0001) [MOLECULAR BASIS] Susceptibility conferred by mutation in the DNA mismatch repair protein MLH3 gene (MLH3, 604395.0006) [MOLECULAR BASIS] Caused by somatic mutation in the mutS homolog 3 gene (MSH3, 600887.0001) [MOLECULAR BASIS]
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|
| tui |
T191
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