DISEASES

Disease-gene associations mined from literature

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Literature associating UQCC1 and acromesomelic dysplasia, Hunter-Thompson type

UQCC1 [ENSP00000363506]

Ubiquinol-cytochrome-c reductase complex assembly factor 1; Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Involved in cytochrome b translation and/or stability.

Synonyms:  UQCC1,  UQCC1p,  hUQCC1,  B1AKV2,  B1AKV3 ...

Linkouts:  STRING  Pharos  UniProt

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.