rs121908012, UROS

N. diseases: 3
Disease: Deficiency of Uroporphyrinogen III Synthase ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Deficiency of Uroporphyrinogen III Synthase
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