DISEASES

Disease-gene associations mined from literature

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Human genes for Meckel syndrome 4

Meckel syndrome 4 [DOID:0070118]

A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of CEP290 on chromosome 12q21.32.

Synonyms:  Meckel syndrome 4,  DOID:0070118,  Meckel-Gruber syndrome, type 4,  MKS4,  MeckelGruber syndrome type 4 ...

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.