DISEASES

Disease-gene associations mined from literature

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Literature associating RAB3IL1 and achondrogenesis

RAB3IL1 [ENSP00000378313]

Guanine nucleotide exchange factor for Rab-3A; Guanine nucleotide exchange factor (GEF) which may activate RAB3A, a GTPase that regulates synaptic vesicle exocytosis. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. May also activate RAB8A and RAB8B; Belongs to the SEC2 family.

Synonyms:  RAB3IL1,  RAB3IL1p,  hRAB3IL1,  E9PK89,  H0YD19 ...

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.