PROM1, prominin 1, 8842

N. diseases: 477; N. variants: 33
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2531154
rs2531154
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0011334
Disease:
Dental caries 		0.800 GeneticVariation GWASCAT GWAS of dental caries patterns in the permanent dentition. 23064961 2013
dbSNP: rs2531154
rs2531154
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0011334
Disease:
Dental caries 		0.800 GeneticVariation GWASDB GWAS of dental caries patterns in the permanent dentition. 23064961 2013
dbSNP: rs137853006
rs137853006
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C2675210
Disease:
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
dbSNP: rs137853006
rs137853006
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C1863534
Disease:
Stargardt disease 4 		0.800 GeneticVariation UNIPROT Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 18654668 2008
dbSNP: rs137853006
rs137853006
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0339512
Disease:
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
dbSNP: rs137853006
rs137853006
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C2675210
Disease:
CONE-ROD DYSTROPHY 12 (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs137853006
rs137853006
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C1863534
Disease:
Stargardt disease 4 		A 0.800 CausalMutation CLINVAR
dbSNP: rs137853006
rs137853006
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0339512
Disease:
Bull's eye macular dystrophy 		A 0.800 CausalMutation CLINVAR
dbSNP: rs137853006
rs137853006
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0730292
Disease:
Macular dystrophy 		A 0.720 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs137853006
rs137853006
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0730292
Disease:
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
dbSNP: rs137853006
rs137853006
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0730292
Disease:
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
dbSNP: rs137853006
rs137853006
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0854723
Disease:
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
dbSNP: rs137853006
rs137853006
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0854723
Disease:
Retinal Dystrophies 		A 0.710 GeneticVariation CLINVAR Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 18654668 2008
dbSNP: rs137853006
rs137853006
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C1855465
Disease:
STARGARDT DISEASE 1 (disorder) 		A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs116130729
rs116130729
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0007766
Disease:
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
dbSNP: rs137853005
rs137853005
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0854723
Disease:
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
dbSNP: rs796051882
rs796051882
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C3489532
Disease:
Cone-Rod Dystrophy 2 		C 0.700 CausalMutation CLINVAR Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation. 26153215 2016
dbSNP: rs372513650
rs372513650
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0854723
Disease:
Retinal Dystrophies 		G 0.700 CausalMutation CLINVAR Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. 26103963 2015
dbSNP: rs780697796
rs780697796
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0854723
Disease:
Retinal Dystrophies 		A 0.700 CausalMutation CLINVAR Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. 25356976 2015
dbSNP: rs17387100
rs17387100
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0038663
Disease:
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
dbSNP: rs17387100
rs17387100
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0005586
Disease:
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
dbSNP: rs17387100
rs17387100
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C1269683
Disease:
Major Depressive 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
dbSNP: rs373331232
rs373331232
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0854723
Disease:
Retinal Dystrophies 		A 0.700 CausalMutation CLINVAR Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. 24154662 2014
dbSNP: rs137853907
rs137853907
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0854723
Disease:
Retinal Dystrophies 		T 0.700 CausalMutation CLINVAR High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. 22025579 2011
dbSNP: rs543698823
rs543698823
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C2675210
Disease:
CONE-ROD DYSTROPHY 12 (disorder) 		TA 0.700 GeneticVariation CLINVAR Cone-rod dystrophy and a frameshift mutation in the PROM1 gene. 19718270 2009