ABCD1 (Q14912808)

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protein-coding gene in the species Homo sapiens

ABC42
ALD
ALDP
AMN
ATP binding cassette subfamily D member 1

Language	Label	Description	Also known as
English	ABCD1	protein-coding gene in the species Homo sapiens	ABC42 ALD ALDP AMN ATP binding cassette subfamily D member 1

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000101986

protein-coding gene

1 reference

NCBI homo sapiens annotation release 107

3 October 2016

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000101986

ATP binding cassette subfamily D member 1

1 reference

6 July 2017

UniProt protein ID

genetic association

X-linked cerebral adrenoleukodystrophy

2 references

8 December 2020

https://search.clinicalgenome.org/kb/gene-validity/9506

26 July 2021

https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9506

X-linked adrenoleukodystrophy

5 references

31 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_815e0f84-b530-4fd2-81a9-02e02bf352ee-2020-12-18T170000.000Z

6 December 2021

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e37330f6-9036-44a6-ac05-12c4005cdcec-2020-12-18T050000.000Z

19 May 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_815e0f84-b530-4fd2-81a9-02e02bf352ee-2020-12-18T050000.000Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000101986/MONDO_0018544

based on heuristic

inferred from an Open Targets association score over 0.7

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000101986/Orphanet_43

based on heuristic

inferred from an Open Targets association score over 0.7

human X chromosome

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000101986

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000101986

152990323

human X chromosome

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000101986

153724856

human X chromosome

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000101986

153010216

human X chromosome

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000101986

153744755

human X chromosome

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000101986

cytogenetic location

Xq28

1 reference

15 May 2022

55426

1 reference

15 May 2022

1 reference

HomoloGene build68

55426

1 reference

HomoloGene build68

55426

1 reference

HomoloGene build68

55426

right adrenal gland

1

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000101986

2

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000101986

gastrocnemius muscle

3

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000101986

stromal cell of endometrium

4

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000101986

right coronary artery

5

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000101986

ascending aorta

6

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000101986

7

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000101986

left uterine tube

8

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000101986

9

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000101986

left coronary artery

10

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000101986

http://identifiers.org/ncbigene/215

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

1 reference

15 May 2022

1 reference

10 April 2022

1 reference

10 April 2022

1 reference

15 May 2022

Ensembl gene ID

ENSG00000101986

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000101986

Ensembl transcript ID

ENST00000443684

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000101986

ENST00000218104

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000101986

ENST00000370129

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000101986

0 references

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

15 June 2023

Sitelinks

Wikipedia(4 entries)

enwiki ABCD1
eswiki Proteína ABCD1
mkwiki ABCD1
ukwiki ABCD1

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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