DISEASES

Disease-gene associations mined from literature

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Human genes for Pitt-Hopkins-like syndrome 2

Pitt-Hopkins-like syndrome 2 [DOID:0111332]

A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in NRXN1 on chromosome 2p16.3.

Synonyms:  Pitt-Hopkins-like syndrome 2,  DOID:0111332,  PittHopkinslike syndrome 2,  PTHSL2

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.