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: 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
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