Preferred Name |
EXCISION REPAIR CROSS-COMPLEMENTING, GROUP 6 |
Synonyms |
ERCC6/PGBD3 PROTEIN |
ID |
http://purl.bioontology.org/ontology/OMIM/609413 |
altLabel |
ERCC6/PGBD3 PROTEIN COCKAYNE SYNDROME B MACULAR DEGENERATION, AGE-RELATED, 5, SUSCEPTIBILITY TO PIGGYBAC TRANSPOSABLE ELEMENT-DERIVED 3 PGBD3 DE SANCTIS-CACCHIONE SYNDROME ERCC6 RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE ERCC6/PGBD3 SPLICED READ-THROUGH TRANSCRIPT PREMATURE OVARIAN FAILURE 11 UV-SENSITIVE SYNDROME 1 RAD26, S. CEREVISIAE, HOMOLOG OF LUNG CANCER, SUSCEPTIBILITY TO CSB/PGBD3 PROTEIN CSB GENE CEREBROOCULOFACIOSKELETAL SYNDROME 1 CSB/PGBD3 SPLICED READ-THROUGH TRANSCRIPT |
cui |
C1366757 C2674950 C4015968 C4310783 C1426221 C0751038 C4310827 C4310825 C4017197 C0265201 C3551173 C4310823 C0220722 C4310826 |
Gene Locus |
10q11 |
Gene Symbol |
POF11 UVSS1 ARMD5 ERCC6 CKN2 COFS1 CSB |
Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/609413.0004 http://purl.bioontology.org/ontology/OMIM/609413.0012 http://purl.bioontology.org/ontology/OMIM/609413.0011 http://purl.bioontology.org/ontology/OMIM/609413.0013 http://purl.bioontology.org/ontology/OMIM/609413.0005 http://purl.bioontology.org/ontology/OMIM/609413.0006 http://purl.bioontology.org/ontology/OMIM/609413.0017 http://purl.bioontology.org/ontology/OMIM/609413.0010 http://purl.bioontology.org/ontology/OMIM/609413.0001 http://purl.bioontology.org/ontology/OMIM/609413.0002 http://purl.bioontology.org/ontology/OMIM/609413.0014 http://purl.bioontology.org/ontology/OMIM/609413.0015 http://purl.bioontology.org/ontology/OMIM/609413.0008 http://purl.bioontology.org/ontology/OMIM/609413.0007 http://purl.bioontology.org/ontology/OMIM/609413.0009 |
MIMTYPEMEANING |
Gene with known sequence |
notation |
609413 |
OMIM Entry Type |
1 |
OMIM MimType Value |
star |
prefLabel |
EXCISION REPAIR CROSS-COMPLEMENTING, GROUP 6 |
tui |
T028 T019 T033 T047 |