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URL: http://degradome.uniovi.es/diseases.html
Proper Citation: Human Hereditary Diseases of Proteolysis (RRID:SCR_008344)
Description: This resource has cataloged a total of 80 human hereditary diseases caused by mutations in protease-coding genes, which implies that more than 10% of the human protease genes are involved in human pathologies. They are classified in three groups: loss of function, gain of function, and an heterogeneous group including non-protease homologs (np), putative proteases, and hedgehog proteins with only autoprocessing activity. Type of inheritance is indicated by R (recessive) or D (dominant).
Synonyms: Diseases of Proteolysis
Resource Type: topical portal, disease-related portal, data or information resource, portal
Keywords: gene, disease, dominant, hereditary, homolog, human, protease, protein, proteolysis, recessive
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