(Q18041843)

English

DHTKD1

protein-coding gene in the species Homo sapiens

AMOXAD
CMT2Q
dehydrogenase E1 and transketolase domain containing 1
AAKAD

In more languages

edit

Statements

1 reference

1 reference

1 reference

Dehydrogenase E1 and transketolase domain containing 1

1 reference

6 July 2017

Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial

1 reference

20 March 2016

language of work or name

English

genetic association

Charcot-Marie-Tooth disease axonal type 2Q

1 reference

13 August 2019

alpha-aminoadipic and alpha-ketoadipic aciduria

3 references

8 December 2020

https://search.clinicalgenome.org/kb/gene-validity/d6dd5de3-9819-432d-996c-12a66dff277f--2020-11-03T19:38:15

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d6dd5de3-9819-432d-996c-12a66dff277f-2020-11-03T193815.515Z

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000181192/MONDO_0008774

based on heuristic

inferred from an Open Targets association score over 0.7

chromosome

human chromosome 10

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

genome assembly GRCh38

Genome assembly GRCh37

1 reference

12110971

Genome assembly GRCh37

1 reference

12068954

genome assembly GRCh38

1 reference

12165224

Genome assembly GRCh37

1 reference

12123221

genome assembly GRCh38

1 reference

10p14

1 reference

15 May 2022

10278

1 reference

15 May 2022

1 reference

10278

1 reference

10278

Caenorhabditis elegans

1 reference

10278

Drosophila melanogaster

1 reference

10278

1 reference

10278

1

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000181192

right lobe of liver

series ordinal

2

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000181192

secondary oocyte

series ordinal

3

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000181192

parotid gland

series ordinal

4

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000181192

renal medulla

series ordinal

5

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000181192

ganglionic eminence

series ordinal

6

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000181192

kidney tubule

series ordinal

7

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000181192

kidney

series ordinal

8

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000181192

biceps brachii

series ordinal

9

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000181192

gastrocnemius muscle

series ordinal

10

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000181192

exact match

http://identifiers.org/ncbigene/55526

1 reference

stated in

Identifiers.org

reference URL

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

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

Ensembl transcript ID

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

0 references

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

inferred by common HGNC mappings on source and on Wikidata

stated in

UMLS 2023

retrieved

15 June 2023

Sitelinks

Wikipedia(5 entries)

arwiki DHTKD1
arzwiki DHTKD1
enwiki DHTKD1
ttwiki DHTKD1
ukwiki DHTKD1

(Q18041843)

DHTKD1

Statements

Identifiers

Sitelinks

Wikipedia(5 entries)

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)