DISEASES

Disease-gene associations mined from literature

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Human genes for C1 inhibitor deficiency

C1 inhibitor deficiency [DOID:0060002]

A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue." [url:http\://en.wikipedia.org/wiki/C1-inhibitor#Role_in_disease] {comment="ls:IEDB"}

Synonyms:  C1 inhibitor deficiency,  DOID:0060002,  Quincke edema,  Quincke edemas

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.