UROD, uroporphyrinogen decarboxylase, 7389

N. diseases: 166; N. variants: 31
Disease: Hepatitis A ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1341379602
rs1341379602
Entrez Id: 7389;79654
Gene Symbol: UROD;HECTD3
UROD;HECTD3
CUI: C0019159
Disease:
Hepatitis A 		0.010 GeneticVariation BEFREE Two previously undescribed URO-D mutations found in a 2-year-old Caucasian boy with HEP, a maternal nonsense mutation (Gln71Stop), and a paternal missense mutation (Gly168Arg) are reported here. 17240319 2007