Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79947
Gene Symbol: DHDDS
DHDDS
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 CausalMutation CLINVAR Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects. 29276052

2018
Entrez Id: 79947
Gene Symbol: DHDDS
DHDDS
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 CausalMutation CLINVAR Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations. 26261414

2015
Entrez Id: 79947
Gene Symbol: DHDDS
DHDDS
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 CausalMutation CLINVAR Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry. 25255364

2015
Entrez Id: 79947
Gene Symbol: DHDDS
DHDDS
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 CausalMutation CLINVAR Aberrant dolichol chain lengths as biomarkers for retinitis pigmentosa caused by impaired dolichol biosynthesis. 24078709

2013
Entrez Id: 79947
Gene Symbol: DHDDS
DHDDS
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 CausalMutation CLINVAR Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. 21295283

2011
Entrez Id: 79947
Gene Symbol: DHDDS
DHDDS
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 CausalMutation CLINVAR A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews. 21295282

2011