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: 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 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: 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 CausalMutation disease CLINVAR
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4
0.720 Biomarker disease CTD_human
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4
0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4
0.720 Biomarker disease GENOMICS_ENGLAND