DISEASES

Disease-gene associations mined from literature

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Literature associating CHAT and neuromuscular junction disease

CHAT [ENSP00000337103]

Choline O-acetyltransferase; Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses; Belongs to the carnitine/choline acetyltransferase family.

Synonyms:  CHAT,  CHAT-001,  CHAT-002,  CHAT-003,  CHAT-004 ...

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.