DISEASES

Disease-gene associations mined from literature

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Human genes for familial hypercholesterolemia

Familial hypercholesterolemia [DOID:13810]

A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.

Synonyms:  familial hypercholesterolemia,  DOID:13810,  hereditary hypercholesterolemia,  familial hypercholesterolemias,  familial hyperbetalipoproteinaemia ...

Linkouts:  OMIM #1 #2 #3

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.