PROM1, prominin 1, 8842

N. diseases: 477; N. variants: 33
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2677516
Disease: RETINITIS PIGMENTOSA 41 (disorder)
RETINITIS PIGMENTOSA 41 (disorder) 		0.800 GeneticVariation disease CLINVAR
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4 		0.720 GeneticVariation disease BEFREE Molecular dynamic simulation and principal component analysis provide compelling evidence that this PROM1 mutation contributes to disease causativeness or susceptibility variants in patients with STGD4-like MD. 29416601 2018
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4 		0.720 GeneticVariation disease UNIPROT Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 18654668 2008
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4 		0.720 GeneticVariation disease BEFREE Mutations in the Prom1 gene have been shown to disrupt photoreceptor disk morphogenesis and cause an autosomal dominant form of Stargardt-like macular dystrophy (STGD4). 28437526 2017
CUI: C0339512
Disease: Bull's eye macular dystrophy
Bull's eye macular dystrophy 		0.700 GeneticVariation disease UNIPROT Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 18654668 2008
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder) 		0.700 GeneticVariation disease UNIPROT Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 18654668 2008
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder) 		0.700 GeneticVariation disease CLINVAR Cone-rod dystrophy and a frameshift mutation in the PROM1 gene. 19718270 2009
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder) 		0.700 GeneticVariation disease CLINVAR A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. 10205271 1999
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.480 GeneticVariation disease BEFREE Meanwhile, we show for the first time that compound heterozygous mutations in PROM1 gene could cause cone-rod dystrophy. 24763286 2014
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.480 GeneticVariation disease BEFREE Mutations in prominin 1 (PROM1) have been shown to result in retinitis pigmentosa, macular degeneration and cone-rod dystrophy. 20859302 2011
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.480 GeneticVariation disease BEFREE A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1. 21496248 2011
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.480 GeneticVariation disease BEFREE In this report, we highlight that pediatric cone-rod dystrophy with high myopia and nystagmus suggests recessive mutations in the gene PROM1. 24547909 2015
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.480 GeneticVariation disease BEFREE Cone-rod dystrophy and a frameshift mutation in the PROM1 gene. 19718270 2009
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.480 GeneticVariation disease BEFREE A novel and unique intronic mutation of PROM1, underlying autosomal recessive CRD in a consanguineous Israeli family, was found. 26702251 2015
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 GeneticVariation disease BEFREE Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene. 17605048 2007
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 GeneticVariation disease BEFREE Mutations in prominin 1 (PROM1) have been shown to result in retinitis pigmentosa, macular degeneration and cone-rod dystrophy. 20859302 2011
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 GeneticVariation disease CLINVAR
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 GeneticVariation disease BEFREE Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa. 27082927 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.400 GeneticVariation disease BEFREE The CC genotype of rs3130 polymorphism in the CD133 gene can predict poorer overall survival in patients with metastatic CRC on bevacizumab which cannot be attributed to increased treatment toxicity. 26406410 2015
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.400 GeneticVariation disease BEFREE GBM CSCs were detected with CD133/1 and CD111 antibodies after co-culture studies. 23737374 2013
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.400 GeneticVariation disease BEFREE Because AC133 and 293C antibodies do not detect all CD133 variants in glioblastoma cells, alternate detection methods need to be utilized for complete analysis of CD133 expression and for accurately determining the relationship between CD133 and cancer stem-like cells. 20428792 2010
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.400 GeneticVariation disease GWASCAT Genetic relationships between suicide attempts, suicidal ideation and major psychiatric disorders: a genome-wide association and polygenic scoring study. 24964207 2014
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.400 GeneticVariation disease BEFREE More importantly, the CD133 gene signature identifies an aggressive subtype of GBM seen in younger patients with shorter survival who bear excessive genomic mutations as surveyed through the Cancer Genome Atlas Network GBM mutation spectrum. 21220328 2011
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.400 GeneticVariation disease BEFREE Because AC133 and 293C antibodies do not detect all CD133 variants in glioblastoma cells, alternate detection methods need to be utilized for complete analysis of CD133 expression and for accurately determining the relationship between CD133 and cancer stem-like cells. 20428792 2010
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.400 GeneticVariation disease BEFREE GBM CSCs were detected with CD133/1 and CD111 antibodies after co-culture studies. 23737374 2013