DISEASES

Disease-gene associations mined from literature

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Literature associating SLC48A1 and proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome

SLC48A1 [ENSP00000415998]

Solute carrier family 48 (heme transporter), member 1; Heme transporter that regulates intracellular heme availability through the endosomal or lysosomal compartment; Solute carriers

Synonyms:  SLC48A1,  SLC48A1p,  hSLC48A1,  F8VQX9,  F8VXV4 ...

Linkouts:  STRING  Pharos  UniProt  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.