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: 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 Biomarker disease BEFREE Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy. 31136651 2019
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 Biomarker disease BEFREE We identified a homozygous interval comprising two known genes associated with the autosomal recessive form of CRD, namely RAB28 and PROM1, in a consanguineous family with clinical evidence of CRD. 26153215 2016
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.480 CausalMutation disease CLINVAR Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation. 26153215 2016
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 GermlineCausalMutation disease ORPHANET 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 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 Biomarker disease GENOMICS_ENGLAND
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 Biomarker disease BEFREE PROM1 mutations have been identified as genetic causes for STGD4 and other retinal degenerations such as retinitis pigmentosa. 28840994 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 CausalMutation disease CLINVAR 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 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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.400 Biomarker disease BEFREE CD133-positive cancer stem cells in colon cancer are resistant to conventional chemotherapy. 23245395 2013
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.400 Biomarker disease BEFREE CD66c was absent in CD133-positive cells that were isolated from normal colon, whereas its expression was brightest (CD66c(bright) ) in CD133-positive cells from colon cancer samples. 23027178 2013
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.400 AlteredExpression disease BEFREE CD133 is one of the most important cancer-initiating (stem) cell markers and was confirmed to be expressed in solid cancers such as colon cancer. 20379837 2010
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.400 AlteredExpression disease BEFREE To elucidate the role of CD133 expression in chemoresistance, we silenced the CD133 expression in a colon cancer cell line and determined its effect on the biological characteristics downstream. 26002465 2015
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.400 AlteredExpression disease BEFREE Using three independent primary spheroidal colon cancer cultures that expressed a Wnt reporter construct we observed high Wnt activity was associated with the cell surface markers CD133, CD166, and CD29, but not CD24 and CD44, while the original study found all five markers were correlated with high Wnt activity (Figure 2F; Vermeulen et al., 2010). 31215867 2019
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.400 Biomarker disease BEFREE Colon cancer stem cell markers CD44 and CD133 in patients with colorectal cancer and synchronous hepatic metastases. 25625240 2015
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.400 Biomarker disease BEFREE Recent studies suggest CD133, a surface protein widely used for isolation of colon cancer stem cells, to be associated with tumor angiogenesis and recurrence. 22231565 2013