DISEASES

Disease-gene associations mined from literature

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Human genes for diaphyseal medullary stenosis with malignant fibrous histiocytoma

Diaphyseal medullary stenosis with malignant fibrous histiocytoma [DOID:0080664]

An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21.

Synonyms:  diaphyseal medullary stenosis with malignant fibrous histiocytoma,  diaphyseal medullary stenosis with malignant fibrous histiocytomas,  DOID:0080664,  bone dysplasia-medullary fibrosarcoma syndrome,  diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome ...

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.