DISEASES

Disease-gene associations mined from literature

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Human genes for Pelizaeus-Merzbacher disease

Pelizaeus-Merzbacher disease [DOID:3210]

A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.

Synonyms:  Pelizaeus-Merzbacher disease,  DOID:3210,  PelizaeusMerzbacher disease,  Pelizaeus-Merzbacher disorder,  Pelizaeus-Merzbacher syndrome ...

Linkouts:  OMIM #1 #2

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.