rs201893545
|
Entrez Id: |
50939 |
Gene Symbol: |
IMPG2 |
IMPG2
|
MACULAR DYSTROPHY, VITELLIFORM, 5
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions.
|
28644393 |
2017 |
rs201893545
|
Entrez Id: |
50939 |
Gene Symbol: |
IMPG2 |
IMPG2
|
MACULAR DYSTROPHY, VITELLIFORM, 5
|
|
0.800 |
GeneticVariation |
UNIPROT |
Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.
|
25085631 |
2014 |
rs201893545
|
Entrez Id: |
50939 |
Gene Symbol: |
IMPG2 |
IMPG2
|
MACULAR DYSTROPHY, VITELLIFORM, 5
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.
|
20673862 |
2010 |
rs201893545
|
Entrez Id: |
50939 |
Gene Symbol: |
IMPG2 |
IMPG2
|
MACULAR DYSTROPHY, VITELLIFORM, 5
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs713993049
|
Entrez Id: |
50939 |
Gene Symbol: |
IMPG2 |
IMPG2
|
MACULAR DYSTROPHY, VITELLIFORM, 5
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs713993049
|
Entrez Id: |
50939 |
Gene Symbol: |
IMPG2 |
IMPG2
|
MACULAR DYSTROPHY, VITELLIFORM, 5
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs267606875
|
Entrez Id: |
50939 |
Gene Symbol: |
IMPG2 |
IMPG2
|
Macular dystrophy
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs503734
|
Entrez Id: |
50939 |
Gene Symbol: |
IMPG2 |
IMPG2
|
Inflammatory Bowel Diseases
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
|
28067908 |
2017 |
rs503734
|
Entrez Id: |
50939 |
Gene Symbol: |
IMPG2 |
IMPG2
|
Crohn Disease
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
|
28067908 |
2017 |
rs758291149
|
Entrez Id: |
50939 |
Gene Symbol: |
IMPG2 |
IMPG2
|
Abnormality of the eye
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.
|
20673862 |
2010 |
rs758291149
|
Entrez Id: |
50939 |
Gene Symbol: |
IMPG2 |
IMPG2
|
Retinal Dystrophies
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.
|
20673862 |
2010 |
rs1553681348
|
Entrez Id: |
50939 |
Gene Symbol: |
IMPG2 |
IMPG2
|
Retinitis Pigmentosa
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1553681433
|
Entrez Id: |
50939 |
Gene Symbol: |
IMPG2 |
IMPG2
|
RETINITIS PIGMENTOSA 56
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553687058
|
Entrez Id: |
50939 |
Gene Symbol: |
IMPG2 |
IMPG2
|
Retinitis Pigmentosa
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1553687118
|
Entrez Id: |
50939 |
Gene Symbol: |
IMPG2 |
IMPG2
|
RETINITIS PIGMENTOSA 56
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1559642470
|
Entrez Id: |
50939 |
Gene Symbol: |
IMPG2 |
IMPG2
|
MACULAR DYSTROPHY, VITELLIFORM, 5
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs199867882
|
Entrez Id: |
50939 |
Gene Symbol: |
IMPG2 |
IMPG2
|
Retinitis Pigmentosa
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs201893545
|
Entrez Id: |
50939 |
Gene Symbol: |
IMPG2 |
IMPG2
|
Retinitis Pigmentosa
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs267606874
|
Entrez Id: |
50939 |
Gene Symbol: |
IMPG2 |
IMPG2
|
RETINITIS PIGMENTOSA 56
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs267606874
|
Entrez Id: |
50939 |
Gene Symbol: |
IMPG2 |
IMPG2
|
Retinitis Pigmentosa
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs267606875
|
Entrez Id: |
50939 |
Gene Symbol: |
IMPG2 |
IMPG2
|
RETINITIS PIGMENTOSA 56
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs267606876
|
Entrez Id: |
50939 |
Gene Symbol: |
IMPG2 |
IMPG2
|
RETINITIS PIGMENTOSA 56
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs754995805
|
Entrez Id: |
50939 |
Gene Symbol: |
IMPG2 |
IMPG2
|
Retinitis Pigmentosa
|
CTTCATCACCTAAAA |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs763295314
|
Entrez Id: |
50939 |
Gene Symbol: |
IMPG2 |
IMPG2
|
MACULAR DYSTROPHY, VITELLIFORM, 5
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs768660614
|
Entrez Id: |
50939 |
Gene Symbol: |
IMPG2 |
IMPG2
|
Retinal Dystrophies
|
GT |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|