RGR, retinal G protein coupled receptor, 5995

N. diseases: 43; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894187
rs104894187
Entrez Id: 5995
Gene Symbol: RGR
RGR
CUI: C3151068
Disease:
RETINITIS PIGMENTOSA 44
0.700 GeneticVariation UNIPROT Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa. 10581022 1999
dbSNP: rs10887265
rs10887265
Entrez Id: 5995
Gene Symbol: RGR
RGR
CUI: C0027092
Disease:
Myopia
0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
dbSNP: rs1554824273
rs1554824273
Entrez Id: 5995
Gene Symbol: RGR
RGR
CUI: C0854723
Disease:
Retinal Dystrophies
AG 0.700 CausalMutation CLINVAR Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa. 10581022 1999
dbSNP: rs747435661
rs747435661
Entrez Id: 5995
Gene Symbol: RGR
RGR
CUI: C0271183
Disease:
Severe myopia
0.010 GeneticVariation BEFREE Of the five variants, two were novel heterozygous truncation variations, c.266C>A (p.S89*) and c.722_723delCC (p.S241Yfs*29), identified in two probands with high myopia and confirmed by Sanger sequencing. 27748892 2016
dbSNP: rs1405414838
rs1405414838
Entrez Id: 5995;26103
Gene Symbol: RGR;LRIT1
RGR;LRIT1
CUI: C2940786
Disease:
Thyroid Hormone Resistance Syndrome
0.010 GeneticVariation BEFREE Periodically hyperthyroid phenotype in thyroid hormone resistance is associated with mutation D322N in the thyroid hormone receptor beta gene: transcriptional properties of the mutant and the role of retinoid X receptor. 8981016 1996
dbSNP: rs1405414838
rs1405414838
Entrez Id: 5995;26103
Gene Symbol: RGR;LRIT1
RGR;LRIT1
CUI: C4722330
Disease:
Generalized Thyroid Hormone Resistance
0.010 GeneticVariation BEFREE Periodically hyperthyroid phenotype in thyroid hormone resistance is associated with mutation D322N in the thyroid hormone receptor beta gene: transcriptional properties of the mutant and the role of retinoid X receptor. 8981016 1996