DISEASES

Disease-gene associations mined from literature

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Human genes for nevoid basal cell carcinoma syndrome

Nevoid basal cell carcinoma syndrome [DOID:2512]

A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities that has_material_basis_in heterozygous mutation in either PTCH1, PTCH2, or SUFU on chromosome 9q22, 1p32, or 10q24-q25, respectively.

Synonyms:  nevoid basal cell carcinoma syndrome,  DOID:2512,  nevoid basal cell carcinoma disease,  nevoid basal cell carcinoma disorder,  nevoid basal cell carcinoma syndromes ...

Linkouts:  OMIM #1 #2 #3 #4 #5

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.