Gene: PROM1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8842
Gene Symbol: PROM1
PROM1 		0.180 Biomarker disease BEFREE Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy. 31136651 2019
Entrez Id: 8842
Gene Symbol: PROM1
PROM1 		0.180 GeneticVariation disease BEFREE Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation. 26153215 2016
Entrez Id: 8842
Gene Symbol: PROM1
PROM1 		0.180 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
Entrez Id: 8842
Gene Symbol: PROM1
PROM1 		0.180 GeneticVariation disease BEFREE An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy. 26702251 2015
Entrez Id: 8842
Gene Symbol: PROM1
PROM1 		0.180 GeneticVariation disease BEFREE Meanwhile, we show for the first time that compound heterozygous mutations in PROM1 gene could cause cone-rod dystrophy. 24763286 2014
Entrez Id: 8842
Gene Symbol: PROM1
PROM1 		0.180 GeneticVariation disease BEFREE A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1. 21496248 2011
Entrez Id: 8842
Gene Symbol: PROM1
PROM1 		0.180 GeneticVariation disease BEFREE Mutations in prominin 1 (PROM1) have been shown to result in retinitis pigmentosa, macular degeneration and cone-rod dystrophy. 20859302 2011
Entrez Id: 8842
Gene Symbol: PROM1
PROM1 		0.180 GeneticVariation disease BEFREE Cone-rod dystrophy and a frameshift mutation in the PROM1 gene. 19718270 2009
Entrez Id: 8842
Gene Symbol: PROM1
PROM1 		0.180 CausalMutation disease CLINVAR
Entrez Id: 8842
Gene Symbol: PROM1
PROM1 		0.180 Biomarker disease HPO