UROS, uroporphyrinogen III synthase, 7390

N. diseases: 58; N. variants: 25
Disease: Deficiency of Uroporphyrinogen III Synthase ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908012
rs121908012
Entrez Id: 7390
Gene Symbol: UROS
UROS
CUI: C2718078
Disease:
Deficiency of Uroporphyrinogen III Synthase 		0.010 GeneticVariation BEFREE Among the missense mutations actually described up to now in CEP patients, the C73R and the P248Q mutations lead to a profound UROS deficiency and are usually associated with a severe clinical phenotype. 24145442 2013