DISEASES

Disease-gene associations mined from literature

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Literature associating SHCBP1L and myoclonic cerebellar dyssynergia

SHCBP1L [ENSP00000356518]

Testicular spindle-associated protein SHCBP1L; Testis-specific spindle-associated factor that plays a role in spermatogenesis. In association with HSPA2, participates in the maintenance of spindle integrity during meiosis in male germ cells.

Synonyms:  SHCBP1L,  SHCBP1Lp,  hSHCBP1L,  Q9BZQ2,  Q9BZQ2p ...

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.