carnitine-acylcarnitine translocase deficiency (Q5044061)

28 July 2018

disorder of carnitine cycle and carnitine transport

1 reference

28 July 2018

autosomal recessive disease

1 reference

30 November 2020

lipid metabolism disorder

1 reference

30 November 2020

5 references

13 August 2019

Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient

9 December 2020

https://search.clinicalgenome.org/kb/gene-validity/95c9aece-49b5-496f-9547-f6d03dd69b4f--2018-05-22T16:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_95c9aece-49b5-496f-9547-f6d03dd69b4f-2018-05-22T160000.000Z

Open Targets Platform

https://platform.opentargets.org/evidence/ENSG00000178537/MONDO_0008918

24 August 2023

reference URL

based on heuristic

inferred from an Open Targets association score over 0.7

NCI Thesaurus ID

C133086

1 reference

http://www.orpha.net/ORDO/Orphanet_159

28 July 2018

0 references

http://purl.obolibrary.org/obo/DOID_0111585

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0111585

1 reference

https://registry.identifiers.org/registry/doid

Identifiers.org

reference URL

Identifiers

MeSH descriptor ID

C562812

subject named as

Carnitine-Acylcarnitine Translocase Deficiency

1 reference

28 July 2018

0 references

1 reference

30 November 2020

1 reference

28 July 2018

Genetics Home Reference Conditions ID

carnitine-acylcarnitine-translocase-deficiency

0 references

ICD-10-CM

E71.3

1 reference

28 July 2018

Microsoft Academic ID

0 references

0 references

0 references

imported from Wikimedia project

2 references

English Wikipedia

28 July 2018

1 reference

imported from Wikimedia project

28 July 2018

1 reference

English Wikipedia

Wikimedia import URL

https://en.wikipedia.org/w/index.php?title=Carnitine-acylcarnitine_translocase_deficiency&oldid=948389388

UMLS CUI

C0342791

1 reference