Pitt-Hopkins Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing. (Orphanet Rare Disease Ontology, Orphanet_2896)
External Link https://www.disgenet.org/browser/0/1/0/C1970431
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Genes

8 genes associated with the disease Pitt-Hopkins Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ATR ATR serine/threonine kinase
CNTNAP2 contactin associated protein-like 2
FOXG1 forkhead box G1
MECP2 methyl CpG binding protein 2
NEUROD1 neuronal differentiation 1
NRXN1 neurexin 1
PTEN phosphatase and tensin homolog
TCF4 transcription factor 4