DISEASES

Disease-gene associations mined from literature

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Human genes for anauxetic dysplasia 1

Anauxetic dysplasia 1 [DOID:0050640]

An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.

Synonyms:  anauxetic dysplasia 1,  DOID:0050640,  spondylometaepiphyseal dysplasia, Menger type,  Menger type spondylometaepiphyseal dysplasia,  spondylometaepiphyseal dysplasia Menger type ...

Linkouts:  OMIM

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.