DISEASES

Disease-gene associations mined from literature

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Literature associating FAHD1 and congenital disorder of glycosylation type II

FAHD1 [ENSP00000372112]

Acylpyruvase FAHD1, mitochondrial; Probable mitochondrial acylpyruvase which is able to hydrolyze acetylpyruvate and fumarylpyruvate in vitro (PubMed:15551868, PubMed:21878618). Also has oxaloacetate decarboxylase activity .

Synonyms:  FAHD1,  FAHD1p,  hFAHD1,  Q6P587,  Q6P587p ...

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.