DISEASES

Disease-gene associations mined from literature

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Human genes for blepharophimosis-intellectual disability syndrome, SBBYS type

Blepharophimosis-intellectual disability syndrome, SBBYS type [DOID:0060290]

A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability.

Synonyms:  blepharophimosis-intellectual disability syndrome, SBBYS type,  blepharophimosisintellectual disability syndrome SBBYS type,  DOID:0060290,  SBBYS type blepharophimosis-intellectual disability syndrome,  Ohdo syndrome, SBBYS Variant ...

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.