DISEASES

Disease-gene associations mined from literature

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Literature associating ECEL1 and congenital myasthenic syndrome 4C

ECEL1 [ENSP00000302051]

Endothelin converting enzyme-like 1; May contribute to the degradation of peptide hormones and be involved in the inactivation of neuronal peptides; M13 metallopeptidases

Synonyms:  ECEL1,  ECEL1p,  hECEL1,  H7C3M0,  O95672 ...

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.