DISEASES

Disease-gene associations mined from literature

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Human genes for hypomyelinating leukodystrophy 4

Hypomyelinating leukodystrophy 4 [DOID:0060789]

A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33.

Synonyms:  hypomyelinating leukodystrophy 4,  DOID:0060789,  HLD4,  MitCHAP60 disease,  mitochondrial HSP60 chaperonopathy ...

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.