DISEASES

Disease-gene associations mined from literature

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Literature associating RSPH1 and rigid spine muscular dystrophy 1

RSPH1 [ENSP00000291536]

Male meiotic metaphase chromosome-associated acidic protein; May play an important role in male meiosis (By similarity). It is necessary for proper building of the axonemal central pair and radial spokes.

Synonyms:  RSPH1,  RSPH1p,  hRSPH1,  A8MWV0,  Q8WYR4 ...

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.