DISEASES

Disease-gene associations mined from literature

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Human genes for distal hereditary motor neuronopathy type 2D

Distal hereditary motor neuronopathy type 2D [DOID:0111210]

A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in FBXO38 on 5q32.

Synonyms:  distal hereditary motor neuronopathy type 2D,  distal familial motor neuronopathy type 2D,  DOID:0111210,  distal hereditary motor neuropathy type IID,  distal spinal muscular atrophy with calf predominance ...

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.