DISEASES

Disease-gene associations mined from literature

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Literature associating PLEKHA2 and cone-rod dystrophy 9

PLEKHA2 [ENSP00000482228]

Pleckstrin homology domain-containing family A member 2; Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane (By similarity).

Synonyms:  PLEKHA2,  PLEKHA2p,  hPLEKHA2,  A0A087WZ32,  A0A087X038 ...

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.