Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.110 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016

Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.110 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

Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.110 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

Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.110 CausalMutation CLINVAR Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. 24154662

2014

Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.110 CausalMutation CLINVAR High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. 22025579

2011

Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.110 CausalMutation CLINVAR Cone-rod dystrophy and a frameshift mutation in the PROM1 gene. 19718270

2009

Entrez Id: 8842
Gene Symbol: PROM1
PROM1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.110 GeneticVariation CLINVAR Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 18654668

2008