DISEASES

Disease-gene associations mined from literature

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Literature associating PHLDB2 and congenital fibrosis of the extraocular muscles

PHLDB2 [ENSP00000405405]

Pleckstrin homology-like domain family B member 2; Seems to be involved in the assembly of the postsynaptic apparatus. May play a role in acetyl-choline receptor (AChR) aggregation in the postsynaptic membrane (By similarity).

Synonyms:  PHLDB2,  PHLDB2p,  hPHLDB2,  A0A1W2PQ63,  A0A1W2PRJ2 ...

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.