DISEASES

Disease-gene associations mined from literature

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Human genes for methylmalonic aciduria and homocystinuria type cblF

Methylmalonic aciduria and homocystinuria type cblF [DOID:0050717]

A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13.

Synonyms:  methylmalonic aciduria and homocystinuria type cblF,  DOID:0050717,  methylmalonic aciduria and homocystinuria type cblFs,  Cobalamin F deficiency,  Cobalamin F 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.