(Q18038741)

English

MMADHC

protein-coding gene in the species Homo sapiens

C2orf25
CL25022
cblD
methylmalonic aciduria and homocystinuria, cblD type
metabolism of cobalamin associated D

In more languages

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168288

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000168288

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168288

Metabolism of cobalamin associated D

1 reference

6 July 2017

UniProt protein ID

genetic association

inborn disorder of cobalamin metabolism and transport

1 reference

23 May 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_40ec59af-a143-4424-9218-7fd75deb6a61-2021-05-12T182739.747Z

methylmalonic acidemia with homocystinuria

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000168288/Orphanet_26

based on heuristic

inferred from an Open Targets association score over 0.7

methylmalonic aciduria and homocystinuria type cblD

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000168288/Orphanet_79283

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 2

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168288

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168288

150426148

human chromosome 2

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168288

149569637

human chromosome 2

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168288

150444330

human chromosome 2

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168288

149587778

human chromosome 2

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168288

cytogenetic location

2q23.2

1 reference

15 May 2022

9248

1 reference

15 May 2022

1 reference

HomoloGene build68

9248

1 reference

HomoloGene build68

9248

1 reference

HomoloGene build68

9248

Caenorhabditis elegans

1 reference

HomoloGene build68

9248

palpebral conjunctiva

1

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000168288

2

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000168288

3

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000168288

vastus lateralis muscle

4

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000168288

5

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000168288

parietal pleura

6

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000168288

7

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000168288

8

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000168288

9

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000168288

thoracic diaphragm

10

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000168288

http://identifiers.org/ncbigene/27249

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

Ensembl gene ID

ENSG00000168288

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168288

Ensembl transcript ID

ENST00000460311

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168288

ENST00000303319

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168288

ENST00000422782

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168288

ENST00000428879

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168288

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)

cawiki MMADHC
enwiki MMADHC
ttwiki MMADHC
ukwiki MMADHC

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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