DISEASES

Disease-gene associations mined from literature

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Human genes for Silverman-Handmaker type dyssegmental dysplasia

Silverman-Handmaker type dyssegmental dysplasia [DOID:0090032]

An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36.

Synonyms:  Silverman-Handmaker type dyssegmental dysplasia,  DOID:0090032,  SilvermanHandmaker type dyssegmental dysplasia,  Silverman-Handmaker type dyssegmental dysplasias

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.