DISEASES

Disease-gene associations mined from literature

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Human genes for geleophysic dysplasia 2

Geleophysic dysplasia 2 [DOID:0111726]

A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of FBN1 on chromosome 15q21.1.

Synonyms:  geleophysic dysplasia 2,  DOID:0111726,  GPHYSD2

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.