MMAA (Q18052742)

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protein-coding gene in the species Homo sapiens

cblA
methylmalonic aciduria (cobalamin deficiency) cblA type
metabolism of cobalamin associated A

Language	Label	Description	Also known as
English	MMAA	protein-coding gene in the species Homo sapiens	cblA methylmalonic aciduria (cobalamin deficiency) cblA type metabolism of cobalamin associated A

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151611

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000151611

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151611

Methylmalonic aciduria (cobalamin deficiency) cblA type

1 reference

6 July 2017

UniProt protein ID

1 reference

UniProt protein ID

20 March 2016

language of work or name

genetic association

methylmalonic acidemia cblA type

4 references

UniProt protein ID

13 August 2019

25 February 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5b81bb9e-5f71-47bf-b187-5eef83d91d57-2021-02-12T142402.133Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000151611/MONDO_0009613

based on heuristic

inferred from an Open Targets association score over 0.7

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000151611/Orphanet_79310

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 4

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151611

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151611

146539415

human chromosome 4

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151611

145599042

human chromosome 4

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151611

146581187

human chromosome 4

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151611

145660033

human chromosome 4

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151611

cytogenetic location

4q31.21

1 reference

15 May 2022

14586

1 reference

15 May 2022

1 reference

HomoloGene build68

14586

1 reference

HomoloGene build68

14586

Caenorhabditis elegans

1 reference

HomoloGene build68

14586

1 reference

HomoloGene build68

14586

secondary oocyte

1

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000151611

tibialis anterior muscle

2

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000151611

pancreatic ductal cell

3

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000151611

4

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000151611

right lobe of liver

5

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000151611

islet of Langerhans

6

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000151611

endothelial cell

7

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000151611

8

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000151611

9

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000151611

10

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000151611

http://identifiers.org/ncbigene/166785

1 reference

Identifiers.org

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

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

Ensembl gene ID

ENSG00000151611

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151611

Ensembl transcript ID

ENST00000541599

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151611

ENST00000503730

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151611

ENST00000506919

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151611

ENST00000511969

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151611

ENST00000504710

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151611

ENST00000648441

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151611

ENST00000649173

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151611

ENST00000648388

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151611

ENST00000647947

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151611

ENST00000649156

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151611

ENST00000649704

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151611

ENST00000679563

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151611

ENST00000679930

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151611

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(6 entries)

arwiki MMAA
arzwiki MMAA
bswiki MMAA
enwiki MMAA
ttwiki MMAA
ukwiki MMAA

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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