DISEASES

Disease-gene associations mined from literature

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Human genes for inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3

Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 [DOID:0111386]

An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRNPA1 on chromosome 12q13.13.

Synonyms:  inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3,  DOID:0111386,  inclusion body myopathy with earlyonset Paget disease of bone with or without frontotemporal dementia 3,  IBMPFD3,  multisystem proteinopathy 3

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.