Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.400 Biomarker GENOMICS_ENGLAND Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome. 23479190

2014

Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.400 Biomarker GENOMICS_ENGLAND A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family. 18285427

2008

Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.400 Biomarker GENOMICS_ENGLAND Congenital hydrocephalus and the basal cell nevus syndrome. 3986729

1985