UROD, uroporphyrinogen decarboxylase, 7389

N. diseases: 166; N. variants: 31
Disease: Blepharophimosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		0.020 Biomarker disease BEFREE This unique patient supports the hypothesis that 14q11q13 may contain imprinted gene(s) that contribute to the paternal UPD(14) features of joint contractures and/or blepharophimosis. 26789739 2016
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		0.020 GeneticVariation disease BEFREE Searching different databases and reviewing the literature revealed 14 microscopically visible aberrations (among them UPD(14)pat) and two submicroscopic rearrangements causing blepharophimosis and mental retardation (BMR) syndrome. 18262484 2008