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: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.350 Biomarker group LHGDN A human colon cancer cell capable of initiating tumour growth in immunodeficient mice. 17122772 2007
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.350 Biomarker group CTD_human Results of a phase I pilot clinical trial examining the effect of plant-derived resveratrol and grape powder on Wnt pathway target gene expression in colonic mucosa and colon cancer. 21188121 2009
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.350 AlteredExpression group LHGDN Elevated circulating endothelial progenitor marker CD133 messenger RNA levels predict colon cancer recurrence. 17594720 2007
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.350 AlteredExpression group LHGDN In primary human colon tumors, all of the epithelial cells also expressed CD133, whereas metastatic colon cancers isolated from liver had distinct CD133+ and CD133- epithelial populations. 18497883 2008
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.350 Biomarker group BEFREE We used immunohistochemistry and quantitative polymerase chain reaction to compare expression of mitochondrial peroxiredoxin 3 (PRX3) in CD133(+)CD44(+) Lgr5(+)cells (CSCs) vs CD133(-)CD44(-)Lgr5(-) colon tumor cells (non-CSCs). 26091938 2015
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.350 Biomarker group BEFREE Although CD133(+) cells are believed to display more CSC-like behavior and be solely responsible for tumor colonization, recent research indicates that CD133(-) cells from metastatic colon tumors not only also possess colonization capacity but also promote the growth of larger tumors in a mouse model than CD133(+) cells, suggesting that an alternative mechanism of metastasis exists. 23577199 2013
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.330 Biomarker group BEFREE In human specimens, the content of CD133(+)CXCR4(+) cells was higher in liver metastases than in primary colorectal tumors. 22871210 2012
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.330 AlteredExpression group LHGDN CD133 expression is an independent prognostic marker for low survival in colorectal cancer. 18781171 2008
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.330 Biomarker group CTD_human Abnormal DNA methylation of CD133 in colorectal and glioblastoma tumors. 18829568 2008
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.330 AlteredExpression group BEFREE The results of the present study showed that ABCG2 is expressed in CD133-positive CSCs from human colorectal tumors. 27449042 2016
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0042138
Disease: Uterine Neoplasms
Uterine Neoplasms
0.300 Biomarker group CTD_human CD133+ cancer stem cell-like cells derived from uterine carcinosarcoma (malignant mixed Müllerian tumor). 21919130 2011
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.230 Biomarker group BEFREE These results suggest that quantitative and functional defects of CD34+/AC133+/CD31+/CD45dim cells are associated with diabetes and vascular impairment and that this cell type may be a prognostic indicator of CVD and vascular dysfunction. 30321232 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.230 Biomarker group RGD Fudenine, a C-terminal truncated rat homologue of mouse prominin, is blood glucose-regulated and can up-regulate the expression of GAPDH. 11237753 2001
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.230 AlteredExpression group BEFREE Metformin, one of the biguanides used for the treatment of diabetes, is also known to reduce the risk of cancer development and cancer stem-like cells (CSCs), including the expression of CD133. 31042624 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.230 Biomarker group BEFREE Levels of circulating CD34(+)/VEGFR2(+) and CD133(+)/VEGFR2(+) were significantly higher in the newly diagnosed untreated patients with HL compared to the patients with HL in remission (P = 0.03 and P = 0.005, respectively), in the patients in remission compared to the patients with diabetes (P = 0.011 and P < 0.001, respectively), and in the patients in remission compared to the healthy individuals (P = 0.08 and P = 0.003, respectively). 30549248 2019
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
0.200 Biomarker group MGD Loss of the cholesterol-binding protein prominin-1/CD133 causes disk dysmorphogenesis and photoreceptor degeneration. 19228982 2009
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.110 CausalMutation group CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967 2016
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.110 GeneticVariation group CLINVAR Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 18654668 2008
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.110 CausalMutation group CLINVAR Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. 24154662 2014
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.110 CausalMutation group CLINVAR Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. 25356976 2015
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.110 CausalMutation group CLINVAR Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. 26103963 2015
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.110 CausalMutation group CLINVAR Cone-rod dystrophy and a frameshift mutation in the PROM1 gene. 19718270 2009