(Q914389)

https://ddrare.nibiohn.go.jp/

17 May 2019

0 references

0 references

autosomal recessive disease

1 reference

15 May 2019

eye degenerative disease

1 reference

nervous system heredodegenerative disease

retrieved

3 July 2018

Mondo ID

MONDO_0016006

1 reference

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy

3 July 2018

0 references

Edward Alfred Cockayne

0 references

0 references

0 references

0 references

1 reference

ERCC6

2 references

Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.

Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome

ERCC1

1 reference

First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure

ERCC5

1 reference

Retracted: A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function

ERCC8

2 references

The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH

Open Targets Platform

retrieved

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000049167/MONDO_0016006

based on heuristic

inferred from an Open Targets association score over 0.7

external data available at URL

http://www.nanbyou.or.jp/entry/4435

language of work or name

Japanese

1 reference

https://ddrare.nibiohn.go.jp/

retrieved

17 May 2019

on focus list of Wikimedia project

WikiProject Medicine

0 references

ICD-9-CM

759.89

1 reference

http://purl.obolibrary.org/obo/DOID_2962

3 July 2018

C9460

1 reference

15 May 2019

1 reference

15 May 2019

http://identifiers.org/doid/DOID:2962

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233

http://www.orpha.net/ORDO/Orphanet_191

0 references

http://www.orpha.net/ORDO/Orphanet_90321

0 references

http://www.orpha.net/ORDO/Orphanet_90322

0 references

http://www.orpha.net/ORDO/Orphanet_90324

0 references

Commons category

Cockayne syndrome

0 references

Identifiers

MeSH descriptor ID

D003057

mapping relation type

exact match

subject named as

Cockayne Syndrome

1 reference

imported from Wikimedia project

3 July 2018

0 references

0 references

0 references

0 references

0 references

0 references

0 references

1 reference

15 May 2019

1 reference

English Wikipedia

eMedicine ID

942516

1 reference

imported from Wikimedia project

1 reference

28 October 2013

1 reference

15 May 2019

Genetics Home Reference Conditions ID

0 references

2 references

15 May 2019