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: 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: 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
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
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: 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: 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: 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