CAVIN1, caveolae associated protein 1, 284119

N. diseases: 151; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.180 Biomarker disease BEFREE We screened a large cohort of muscular dystrophy patients for abnormalities in FHL1 (n=102) and TCAP (n=100) and selected patients whose clinical features overlapped the phenotypes previously described for BAG3 (n=9), MATR3 (n=15) and PTRF (n=7). 21683594 2011
CUI: C2750069
Disease: Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Congenital Generalized, Type 4 		0.830 GeneticVariation disease BEFREE We report novel PTRF mutations and detailed phenotypes of two male and three female patients with CGL4 belonging to two pedigrees of Mexican origin (CGL7100 and CGL178) and one pedigree of Turkish origin (CGL180). 20684003 2010
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.340 GeneticVariation disease BEFREE We identified two new PTRF homozygous mutations (p.Asp59Val or p.Gln157Hisfs*52) in four patients with CGL4 presenting with generalized lipoatrophy and associated metabolic abnormalities. 27144934 2016
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		0.110 GeneticVariation disease BEFREE We identified two new PTRF homozygous mutations (p.Asp59Val or p.Gln157Hisfs*52) in four patients with CGL4 presenting with generalized lipoatrophy and associated metabolic abnormalities. 27144934 2016
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma 		0.010 GeneticVariation disease BEFREE We identified differential hypermethylation of CpGs located in the body and S-Shore of the PTRF gene in Ewing sarcoma that correlated with its repressed transcriptional state. 27894957 2017
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 AlteredExpression disease BEFREE We have identified two proteins, PTRF/cavin-1 and MIF, which are differentially expressed between normal lung and non-small cell lung cancer. 22461895 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.070 AlteredExpression group BEFREE Using a combined in silico and in vitro analysis here we show that Cavin-1 is expressed in myogenic RMS tumors as well as in human and primary mouse RMS cultures, exhibiting a broad subcellular localization, ranging from nuclei and cytosol to plasma membrane. 25822667 2015
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.010 Biomarker phenotype BEFREE Two patients with CGL4 developed hypertrophic cardiomyopathy (HCMP) and severe cardiac arrhythmia, only one patient with CGL1 had HCMP. 31778856 2019
CUI: C1560249
Disease: Adverse Event Associated with Cardiac Arrhythmia
Adverse Event Associated with Cardiac Arrhythmia 		0.010 Biomarker phenotype BEFREE Two patients with CGL4 developed hypertrophic cardiomyopathy (HCMP) and severe cardiac arrhythmia, only one patient with CGL1 had HCMP. 31778856 2019
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.110 Biomarker disease BEFREE Two patients with CGL4 developed hypertrophic cardiomyopathy (HCMP) and severe cardiac arrhythmia, only one patient with CGL1 had HCMP. 31778856 2019
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.010 Biomarker disease BEFREE Two patients with CGL4 developed hypertrophic cardiomyopathy (HCMP) and severe cardiac arrhythmia, only one patient with CGL1 had HCMP. 31778856 2019
CUI: C2750069
Disease: Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Congenital Generalized, Type 4 		0.830 Biomarker disease BEFREE To the best of our knowledge, we present a novel mutation of PTRF from Saudi Arabia and our findings broaden the mutation spectrum of PTRF in the familial CGL4 phenotype. 25721873 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 Biomarker disease BEFREE Thus, these findings, for the first time, demonstrated that PTRF inhibits the tumorigenesis of colorectal cancers and that it might serve as a potential therapeutic target for human colon cancer patients. 27203393 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE Thus, these findings, for the first time, demonstrated that PTRF inhibits the tumorigenesis of colorectal cancers and that it might serve as a potential therapeutic target for human colon cancer patients. 27203393 2017
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.180 GeneticVariation disease BEFREE Thus, in addition to compromised adipocyte-related physiology, the absence of PTRF/cavin-1 in mice caused a unique form of muscular dystrophy with a phenotype similar or identical to that seen in humans lacking this protein. 28289716 2017
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 Biomarker disease BEFREE These results suggest there may be a functional role for the modulation by glycosylation of GLUT1 in the tumorigenic behavior of CGL4 and HeLa cells. 8719880 1995
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.040 GeneticVariation disease BEFREE There are four subclinical phenotypes of CGL (CGL1-4) and mutations in four genes AGPAT2, BSCL2, CAV1 and PTRF have been assigned to each type. 23659685 2013
CUI: C0017638
Disease: Glioma
Glioma 		0.020 Biomarker disease BEFREE The predictive role of CAVIN1 in progressive malignancy in glioma was evaluated by using a receiver operator characteristic (ROC) curve. 30311408 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.040 AlteredExpression disease BEFREE The mRNA level of PTRF and caveolin1 showed a positive correlation in the same GBM specimens. 24747515 2014
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.040 AlteredExpression disease BEFREE The mRNA level of PTRF and caveolin1 showed a positive correlation in the same GBM specimens. 24747515 2014
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.400 GeneticVariation disease BEFREE The major genetic factors in the generalized forms of the lipodystrophies, particularly Congenital generalized lipodystrophy (CGL)-Berardinelli-Seip syndrome, are the AGPAT2, BSCL2, caveolin 1 (CAV1) and polymerase-I-and-transcriptrelease factor (PTRF) genes. 24152769 2014
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.340 Biomarker disease BEFREE The major genetic factors in the generalized forms of the lipodystrophies, particularly Congenital generalized lipodystrophy (CGL)-Berardinelli-Seip syndrome, are the AGPAT2, BSCL2, caveolin 1 (CAV1) and polymerase-I-and-transcriptrelease factor (PTRF) genes. 24152769 2014
CUI: C0026848
Disease: Myopathy
Myopathy 		0.130 Biomarker group BEFREE The PTRF gene should be investigated in patients with hyperCKemia, mild myopathy associated with spontaneous or percussion-induced muscle contractions like rippling or mounding, and no CAV3 mutation. 24024685 2013
CUI: C1853195
Disease: Prostate Cancer, Hereditary, 7
Prostate Cancer, Hereditary, 7 		0.010 AlteredExpression disease BEFREE Taken together, our results suggest that PTRF/cavin-1 expression alters prostate cancer aggressiveness. 20732728 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.070 Biomarker group BEFREE Reintroduction of PTRF/Cavin-1 in Ewing sarcoma cells revealed a role of this protein as a tumor suppressor. 27894957 2017