rs137853006
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
CONE-ROD DYSTROPHY 12 (disorder)
A
0.800
CausalMutation
CLINVAR
rs137853006
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
CONE-ROD DYSTROPHY 12 (disorder)
0.800
GeneticVariation
UNIPROT
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.
18654668
2008
rs137853006
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
Stargardt disease 4
0.800
GeneticVariation
UNIPROT
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.
18654668
2008
rs137853006
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
Bull's eye macular dystrophy
0.800
GeneticVariation
UNIPROT
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.
18654668
2008
rs137853006
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
Stargardt disease 4
A
0.800
CausalMutation
CLINVAR
rs137853006
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
Bull's eye macular dystrophy
A
0.800
CausalMutation
CLINVAR
rs2531154
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
Dental caries
0.800
GeneticVariation
GWASCAT
GWAS of dental caries patterns in the permanent dentition.
23064961
2013
rs2531154
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
Dental caries
0.800
GeneticVariation
GWASDB
GWAS of dental caries patterns in the permanent dentition.
23064961
2013
rs137853006
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
Macular dystrophy
A
0.720
CausalMutation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
rs137853006
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
Macular dystrophy
0.720
GeneticVariation
BEFREE
Identification of the PROM1 Mutation p.R373C in a Korean Patient With Autosomal Dominant Stargardt-like Macular Dystrophy .
28840994
2017
rs137853006
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
Macular dystrophy
0.720
GeneticVariation
BEFREE
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy .
20393116
2010
rs137853006
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
Retinal Dystrophies
0.710
GeneticVariation
BEFREE
The results of this study have demonstrated that a distinct redundant PROM1 mutation (R373C ) can also produce an autosomal dominant, fully penetrant retinopathy, characterized by BEM with little inter- and intrafamilial variability, and retinal dystrophy with variable rod or rod-cone dysfunction and marked intra- and interfamilial variability, ranging from isolated maculopathy without generalized photoreceptor dysfunction to maculopathy associated with very severe rod-cone dysfunction.
20393116
2010
rs137853006
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
Retinal Dystrophies
A
0.710
GeneticVariation
CLINVAR
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.
18654668
2008
rs116130729
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
Intracranial Aneurysm
0.700
GeneticVariation
GWASCAT
Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population.
29531279
2018
rs1196489060
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
Retinal Dystrophies
T
0.700
GeneticVariation
CLINVAR
rs1210104601
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
CONE-ROD DYSTROPHY 12 (disorder)
AT
0.700
CausalMutation
CLINVAR
rs1300041533
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
Amaurosis congenita of Leber, type 1
C
0.700
CausalMutation
CLINVAR
rs137853005
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
RETINITIS PIGMENTOSA 41 (disorder)
A
0.700
CausalMutation
CLINVAR
rs137853005
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
Retinitis Pigmentosa
A
0.700
CausalMutation
CLINVAR
Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene.
17605048
2007
rs137853005
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
Retinal Dystrophies
A
0.700
CausalMutation
CLINVAR
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
26872967
2016
rs137853006
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
STARGARDT DISEASE 1 (disorder)
A
0.700
CausalMutation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
rs137853907
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
Retinal Dystrophies
T
0.700
CausalMutation
CLINVAR
High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.
22025579
2011
rs1560449207
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
Usher Syndrome
A
0.700
CausalMutation
CLINVAR
rs17387100
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
Suicide attempt
G
0.700
GeneticVariation
GWASCAT
Genetic relationships between suicide attempts, suicidal ideation and major psychiatric disorders: a genome-wide association and polygenic scoring study.
24964207
2014
rs17387100
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
Bipolar Disorder
G
0.700
GeneticVariation
GWASCAT
Genetic relationships between suicide attempts, suicidal ideation and major psychiatric disorders: a genome-wide association and polygenic scoring study.
24964207
2014