Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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

http://purl.bioontology.org/ontology/OMIM/126340.0013

http://purl.bioontology.org/ontology/OMIM/126340.0010

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

Delete Subject Author Type Created
No notes to display