DISEASES

Disease-gene associations mined from literature

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Human genes for platelet-type bleeding disorder 18

Platelet-type bleeding disorder 18 [DOID:0111051]

A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13.

Synonyms:  platelet-type bleeding disorder 18,  DOID:0111051,  platelettype bleeding disorder 18,  BDPLT18,  bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency ...

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.