rs147394623, DHDDS

N. diseases: 4
Disease: RETINITIS PIGMENTOSA 59 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
RETINITIS PIGMENTOSA 59
CUI: C3151227
Disease: RETINITIS PIGMENTOSA 59
0.700 CausalMutation CLINVAR Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association. 28130426 2017
RETINITIS PIGMENTOSA 59
CUI: C3151227
Disease: RETINITIS PIGMENTOSA 59
0.700 CausalMutation CLINVAR A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity. 27343064 2016
RETINITIS PIGMENTOSA 59
CUI: C3151227
Disease: RETINITIS PIGMENTOSA 59
0.700 CausalMutation CLINVAR Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa. 24664694 2014
RETINITIS PIGMENTOSA 59
CUI: C3151227
Disease: RETINITIS PIGMENTOSA 59
0.700 CausalMutation CLINVAR Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation. 25066056 2014
RETINITIS PIGMENTOSA 59
CUI: C3151227
Disease: RETINITIS PIGMENTOSA 59
0.700 CausalMutation CLINVAR A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews. 21295282 2011
RETINITIS PIGMENTOSA 59
CUI: C3151227
Disease: RETINITIS PIGMENTOSA 59
0.700 CausalMutation CLINVAR Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. 21295283 2011
RETINITIS PIGMENTOSA 59
CUI: C3151227
Disease: RETINITIS PIGMENTOSA 59
0.700 CausalMutation CLINVAR Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene. 22110072 2011