DISEASES

Disease-gene associations mined from literature

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Human genes for Mulchandani-Bhoj-Conlin syndrome

Mulchandani-Bhoj-Conlin syndrome [DOID:0111714]

A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13.

Synonyms:  Mulchandani-Bhoj-Conlin syndrome,  DOID:0111714,  MulchandaniBhojConlin syndrome,  Mulchandani-Bhoj-Conlin disease,  Mulchandani-Bhoj-Conlin disorder ...

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.