PORCN, porcupine O-acyltransferase, 64840

N. diseases: 162; N. variants: 9
Disease: Microphthalmos ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.110 GeneticVariation disease BEFREE Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia. 25026905 2015
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.110 Biomarker disease HPO