DISEASES

Disease-gene associations mined from literature

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Human genes for methylmalonic aciduria and homocystinuria type cblD

Methylmalonic aciduria and homocystinuria type cblD [DOID:0050716]

A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities.

Synonyms:  methylmalonic aciduria and homocystinuria type cblD,  DOID:0050716,  methylmalonic aciduria and homocystinuria type cblDs,  Cobalamin D deficiency,  Cobalamin D deficiencies

Linkouts:  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.