Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.010 GeneticVariation disease BEFREE Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability. 30181650 2018