DISEASES

Disease-gene associations mined from literature

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Literature associating BHLHA9 and X-linked spondyloepimetaphyseal dysplasia

BHLHA9 [ENSP00000375248]

Class A basic helix-loop-helix protein 9; Transcription factor, which play a role in limb development. Is an essential player in the regulatory network governing transcription of genes implicated in limb morphogenesis.

Synonyms:  BHLHA9,  BHLHA9p,  hBHLHA9,  Q7RTU4,  Q7RTU4p ...

Linkouts:  STRING  Pharos  UniProt  OMIM

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.