DISEASES

Disease-gene associations mined from literature

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Human genes for congenital intrinsic factor deficiency

Congenital intrinsic factor deficiency [DOID:0050734]

A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption.

Synonyms:  congenital intrinsic factor deficiency,  congenital intrinsic factor deficiencies,  DOID:0050734,  hereditary intrinsic factor deficiency,  familial intrinsic factor deficiency ...

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.