DISEASES

Disease-gene associations mined from literature

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Literature associating PCBD2 and distal arthrogryposis type 6

PCBD2 [ENSP00000421544]

Dimerization cofactor of hepatocyte nuclear factor 1 from muscle; Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2 (By similarity).

Synonyms:  PCBD2,  PCBD2p,  hPCBD2,  H0YA52,  Q9H0N5 ...

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.