RCVRN, recoverin, 5957

N. diseases: 19; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3203657
Disease: Autoimmune retinopathy
Autoimmune retinopathy 		0.010 Biomarker disease BEFREE This model supports the hypothesis that recoverin-specific T cell responses are major drivers of AIR pathogenesis and that IL-10 is an important factor in protection. 30635390 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 AlteredExpression disease BEFREE In this work, we demonstrated that recoverin is indeed expressed in 68.4 % of patients with different subtypes of renal cell carcinoma, and this expression has tendency to correlate with tumor size. 26813565 2016
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm 		0.010 Biomarker disease BEFREE Taken together, these data allow to consider recoverin as a potential therapeutic target and/or marker for renal tumors. 26813565 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 AlteredExpression group BEFREE While the recoverin expression does not correlate withoverall survival of the tumor patients, the methylation of the recoverin gene promoter at -80 position is associated with better overall survival of the patients. 26813565 2016
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 AlteredExpression disease BEFREE In this work, we demonstrated that recoverin is indeed expressed in 68.4 % of patients with different subtypes of renal cell carcinoma, and this expression has tendency to correlate with tumor size. 26813565 2016
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 Biomarker disease BEFREE In the presence of several anti-cancer drugs, including anti-tumor antibiotics, plant alkaloids and anti-metabolites, cytotoxicity assay was performed using recoverin-positive or recoverin-negative A549 cells originating from human lung adenocarcinoma. 19887879 2010
CUI: C0730308
Disease: Melanoma-Associated Retinopathy
Melanoma-Associated Retinopathy 		0.010 AlteredExpression disease BEFREE Recoverin aberrantly expressed in lung and melanoma tumors can trigger the host immune response followed by the development of a paraneoplastic neurological syndrome represented by cancer- and melanoma-associated retinopathy, respectively. 20812967 2010
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.010 GeneticVariation group BEFREE The authors found no evidence that mutations in the recoverin gene are a cause of RP or another of the hereditary retinal diseases studied. 9071225 1997
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.010 GeneticVariation disease BEFREE The authors found no evidence that mutations in the recoverin gene are a cause of RP or another of the hereditary retinal diseases studied. 9071225 1997
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.010 Biomarker disease BEFREE To determine whether defects in the human recoverin gene cause retinitis pigmentosa (RP) or an allied disease such as Usher syndrome, Leber congenital amaurosis, or the Bardet-Biedl syndrome. 9071225 1997
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.010 Biomarker disease BEFREE To determine whether defects in the human recoverin gene cause retinitis pigmentosa (RP) or an allied disease such as Usher syndrome, Leber congenital amaurosis, or the Bardet-Biedl syndrome. 9071225 1997
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.010 GeneticVariation disease BEFREE These results strongly suggest that mutations in the RCV1 gene are not responsible for ARRP in these families. 7607661 1995
CUI: C0025202
Disease: melanoma
melanoma 		0.020 AlteredExpression disease BEFREE Recoverin aberrantly expressed in lung and melanoma tumors can trigger the host immune response followed by the development of a paraneoplastic neurological syndrome represented by cancer- and melanoma-associated retinopathy, respectively. 20812967 2010
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 Biomarker group BEFREE The present data may correlate with the previous observation that recoverin-expressing cancer cells induced tumor immunity and a favorable prognosis for primary cancer in CAR patients. 19887879 2010
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 AlteredExpression group BEFREE Recoverin aberrantly expressed in lung and melanoma tumors can trigger the host immune response followed by the development of a paraneoplastic neurological syndrome represented by cancer- and melanoma-associated retinopathy, respectively. 20812967 2010
CUI: C0025202
Disease: melanoma
melanoma 		0.020 AlteredExpression disease BEFREE Visual rhodopsin, transducin, cGMP-phosphodiesterase 6, cGMP-dependent channels, guanylyl cyclase, rhodopsin kinase, recoverin and arrestin are expressed in melanoma and can induce antibody responses in patients. 17187367 2007
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.020 AlteredExpression disease BEFREE Establishment of a novel small cell lung carcinoma cell line with specific recoverin expression from a patient with cancer-associated retinopathy. 17374419 2007
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.020 AlteredExpression disease BEFREE The goal of this study was to determine if recoverin mRNA and protein are expressed in cultured human Y79 retinoblastoma cells, so that this cell line could be used as a model to study the mechanism of recoverin gene expression in the retina. 8666979 1996
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.020 Biomarker disease BEFREE Our results support the hypothesis that, in cancer-associated retinopathy (CAR) patients, auto-immune antibody targeting for ectopic recoverin in SCLC is initially produced and cross-reacts with the retinal protein, resulting in the retinal degeneration that occurs in CAR patients. 8598320 1996
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.020 Biomarker disease BEFREE Direct sequencing of a Y79 retinoblastoma cDNA polymerase chain reaction (PCR) product confirmed the presence of recoverin in this human cell line. 8500558 1993
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 AlteredExpression group BEFREE Recoverin is the first retina-specific photoreceptor protein that was shown to undergo aberrant expression, due to its promoter demethylation, as a cancer-retina antigen in a number of malignant tumors. 26813565 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 AlteredExpression group BEFREE Recoverin aberrantly expressed in lung and melanoma tumors can trigger the host immune response followed by the development of a paraneoplastic neurological syndrome represented by cancer- and melanoma-associated retinopathy, respectively. 20812967 2010
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 Biomarker group BEFREE Cytotoxic effects by anti-cancer drugs were higher in recoverin-positive A549 cells as compared to recoverin-negative cells. 19887879 2010
CUI: C0406810
Disease: Carney Complex
Carney Complex 		0.040 Biomarker disease BEFREE The present data may correlate with the previous observation that recoverin-expressing cancer cells induced tumor immunity and a favorable prognosis for primary cancer in CAR patients. 19887879 2010
CUI: C0406810
Disease: Carney Complex
Carney Complex 		0.040 Biomarker disease BEFREE The present study demonstrates that human recoverin is expressed in SCLC cells cultured from an anti-recoverin antibody-negative patient with CAR. 17374419 2007