DISEASES

Disease-gene associations mined from literature

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Human genes for biotin-responsive basal ganglia disease

Biotin-responsive basal ganglia disease [DOID:0050659]

Thiamine transporter 2 (ThTr-2), also known as solute carrier family 19 member 3, is a protein that in humans is encoded by the SLC19A3 gene. SLC19A3 is a thiamine transporter.

Synonyms:  biotin-responsive basal ganglia disease,  DOID:0050659,  biotinresponsive basal ganglia disease,  biotin-responsive basal ganglia disorder,  biotin-responsive basal ganglia syndrome

The disease associations are derived via automatic text mining of the biomedical literature and have not been manually verified. The confidence of each association is signified by stars, where ★★★★☆ is the highest confidence and ★☆☆☆☆ is the lowest.

Each disease–gene association is based on a text-mining score, which is proportional to 1) the absolute number of comentionings and 2) the ratio of observed to expected comentionings (i.e. the enrichment). These scores are normalized to z-scores by comparing them to a random background. This is represented by stars, each star corresponding to two standard deviations above the mean of the background distribution.

Developed by Sune Frankild and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.