DISEASES

Disease-gene associations mined from literature

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Human genes for Simpson-Golabi-Behmel syndrome type 2

Simpson-Golabi-Behmel syndrome type 2 [DOID:0080342]

A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems.

Synonyms:  Simpson-Golabi-Behmel syndrome type 2,  DOID:0080342,  SimpsonGolabiBehmel syndrome type 2

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.