DISEASES

Disease-gene associations mined from literature

JensenLab
SearchDownloadsAbout

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,  DOID:0050734,  congenital intrinsic factor deficiencies,  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.

Currently maintained by Qingyao Huang at Swiss Institute of Bioinformatics, University of Zurich. Licensed under CC BY 4.0.