PTCH2, patched 2, 8643

N. diseases: 114; N. variants: 4
Disease: Oculo-dento-digital syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		0.300 GermlineCausalMutation disease ORPHANET Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome. 23479190 2013
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		0.300 GermlineCausalMutation disease ORPHANET A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family. 18285427 2008