PORCN, porcupine O-acyltransferase, 64840

N. diseases: 162; N. variants: 9
Disease: Hyperthyroxinemia, Familial Dysalbuminemic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. 17546030 2007