DISEASES

Disease-gene associations mined from literature

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Human genes for von Hippel-Lindau disease

Von Hippel-Lindau disease [DOID:14175]

Von Hippel–Lindau (VHL) is a rare, autosomal dominant genetic condition:555 in which hemangioblastomas are found in the cerebellum, spinal cord, kidney and retina. These are associated with several pathologies including renal angioma, renal cell carcinoma ( clear cell variety) and pheochromocytoma. VHL results from a mutation in the von Hippel–Lindau tumor suppressor gene on chromosome 3p25.3.

Synonyms:  von Hippel-Lindau disease,  DOID:14175,  von HippelLindau disease,  von Hippel-Lindau disorder,  von Hippel-Lindau syndrome ...

The disease associations are derived via automatic text mining of the biomedical literature and have not been manually verified. The confidence of each association is signified by stars, where ★★★★☆ is the highest confidence and ★☆☆☆☆ is the lowest.

Each disease–gene association is based on a text-mining score, which is proportional to 1) the absolute number of comentionings and 2) the ratio of observed to expected comentionings (i.e. the enrichment). These scores are normalized to z-scores by comparing them to a random background. This is represented by stars, each star corresponding to two standard deviations above the mean of the background distribution.

Developed by Sune Frankild and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.