Preferred Name |
ERCC EXCISION REPAIR 2, TFIIH CORE COMPLEX HELICASE SUBUNIT |
|
Synonyms |
EM9 |
|
ID |
http://purl.bioontology.org/ontology/OMIM/126340 |
|
altLabel |
EM9 DNA REPAIR DEFECT EM9 OF CHINESE HAMSTER OVARY CELLS, COMPLEMENTATION OF XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE CEREBROOCULOFACIOSKELETAL SYNDROME 2 XPD EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2 XPD GENE ERCC2 |
|
cui |
C1853102 C1333356 C0268138 C1866504 |
|
Gene Locus |
19q13.2-q13.3 |
|
Gene Symbol |
EM9 ERCC2 XPD TTD1 COFS2 |
|
Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/126340.0007 http://purl.bioontology.org/ontology/OMIM/126340.0004 http://purl.bioontology.org/ontology/OMIM/126340.0002 http://purl.bioontology.org/ontology/OMIM/126340.0006 http://purl.bioontology.org/ontology/OMIM/126340.0009 http://purl.bioontology.org/ontology/OMIM/126340.0001 http://purl.bioontology.org/ontology/OMIM/126340.0005 http://purl.bioontology.org/ontology/OMIM/126340.0003 http://purl.bioontology.org/ontology/OMIM/126340.0008 http://purl.bioontology.org/ontology/OMIM/126340.0012 http://purl.bioontology.org/ontology/OMIM/126340.0015 http://purl.bioontology.org/ontology/OMIM/126340.0011 http://purl.bioontology.org/ontology/OMIM/126340.0014 |
|
MIMTYPEMEANING |
Gene with known sequence |
|
notation |
126340 |
|
OMIM Entry Type |
1 |
|
OMIM MimType Value |
star |
|
prefLabel |
ERCC EXCISION REPAIR 2, TFIIH CORE COMPLEX HELICASE SUBUNIT |
|
tui |
T047 T028 |