DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for Meckel syndrome 7

Meckel syndrome 7 [DOID:0070121]

A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of NPHP3 on chromosome 3q22.1.

Synonyms:  Meckel syndrome 7,  DOID:0070121,  Meckel-Gruber syndrome, type 7,  MKS7,  MeckelGruber syndrome type 7 ...

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.