Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0265341
Disease: Rieger syndrome
Rieger syndrome 		0.100 GeneticVariation CLINVAR Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. 26893459

2016