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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/609412
http://purl.bioontology.org/ontology/OMIM/609412
|
|---|---|
| Preferred Name | ERCC EXCISION REPAIR 8, CSA UBIQUITIN LIGASE COMPLEX SUBUNIT |
| Synonyms |
CKN1 GENE
COCKAYNE SYNDROME A
UV-SENSITIVE SYNDROME 2
ERCC8
CSA GENE
EXCISION REPAIR CROSS-COMPLEMENTING, GROUP 8
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CKN1 GENE
COCKAYNE SYNDROME A
UV-SENSITIVE SYNDROME 2
ERCC8
CSA GENE
EXCISION REPAIR CROSS-COMPLEMENTING, GROUP 8
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|
|---|---|
| prefLabel |
ERCC EXCISION REPAIR 8, CSA UBIQUITIN LIGASE COMPLEX SUBUNIT
|
| Gene Symbol |
ERCC8
UVSS2
CKN1
CSA
|
| notation |
609412
|
| Has allelic variant |
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|
| OMIM MimType Value |
star
|
| Semantic type UMLS property | |
| OMIM Entry Type |
1
|
| type | |
| MIMTYPEMEANING |
Gene with known sequence
|
| Gene Locus |
5q12
|
| Phenotype of |
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|
| tui |
T047
T028
|
| cui |
C0751039
C1414440
C3553298
|
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