Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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

http://purl.bioontology.org/ontology/OMIM/609413.0003

http://purl.bioontology.org/ontology/OMIM/609413.0016

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

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http://purl.bioontology.org/ontology/MESH/C535992 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C562434 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D003057 Medical Subject Headings CUI