DISEASES

Disease-gene associations mined from literature

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Literature associating RAB9A and Simpson-Golabi-Behmel syndrome type 2

RAB9A [ENSP00000420127]

Ras-related protein Rab-9A; Involved in the transport of proteins between the endosomes and the trans Golgi network. Involved in the recruitment of SGSM2 to melanosomes and is required for the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes. ; Belongs to the small GTPase superfamily. Rab family.

Synonyms:  RAB9A,  RAB9Ap,  hRAB9A,  A0A024RBV5,  A0A1B0GUI0 ...

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.