MMACHC (Q18037843)

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protein-coding gene in the species Homo sapiens

cblC
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
metabolism of cobalamin associated C

Language	Label	Description	Also known as
English	MMACHC	protein-coding gene in the species Homo sapiens	cblC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria metabolism of cobalamin associated C

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000132763

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000132763

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000132763

Metabolism of cobalamin associated C

1 reference

6 July 2017

UniProt protein ID

genetic association

methylmalonic aciduria and homocystinuria type cblC

6 references

UniProt protein ID

13 August 2019

4 May 2020

https://search.clinicalgenome.org/kb/gene-validity/6feb4bda-539f-4592-acaf-26dc186e953a--2019-05-24T17:08:57

28 December 2020

https://search.clinicalgenome.org/kb/gene-validity/6feb4bda-539f-4592-acaf-26dc186e953a--2020-06-29T17:43:03

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6feb4bda-539f-4592-acaf-26dc186e953a-2020-06-29T174303.503Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000132763/MONDO_0010184

based on heuristic

inferred from an Open Targets association score over 0.7

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000132763/Orphanet_79282

based on heuristic

inferred from an Open Targets association score over 0.7

methylmalonic acidemia with homocystinuria

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000132763/Orphanet_26

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 1

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000132763

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000132763

45965725

human chromosome 1

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000132763

45500300

human chromosome 1

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000132763

45513382

human chromosome 1

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000132763

45976739

human chromosome 1

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000132763

cytogenetic location

1p34.1

1 reference

15 May 2022

12082

1 reference

15 May 2022

1 reference

HomoloGene build68

12082

1 reference

HomoloGene build68

12082

Caenorhabditis elegans

1 reference

HomoloGene build68

12082

1 reference

HomoloGene build68

12082

right lobe of liver

1

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000132763

stromal cell of endometrium

2

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000132763

3

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000132763

prefrontal cortex

4

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000132763

right adrenal gland

5

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000132763

gastrocnemius muscle

6

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000132763

7

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000132763

left adrenal gland

8

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000132763

ganglionic eminence

9

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000132763

islet of Langerhans

10

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000132763

http://identifiers.org/ncbigene/25974

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

Ensembl gene ID

ENSG00000132763

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000132763

Ensembl transcript ID

ENST00000616135

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000132763

ENST00000401061

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000132763

ENST00000477188

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000132763

0 references

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 2022

Microsoft Academic ID

0 references

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(5 entries)

arwiki MMACHC
arzwiki MMACHC
enwiki MMACHC
ttwiki MMACHC
ukwiki MMACHC

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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