ESD, esterase D, 2098

N. diseases: 48; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003129
Disease: Anoxemia
Anoxemia
0.300 Biomarker phenotype CTD_human Comparative proteomic profiles of the hepatopancreas in Fenneropenaeus chinensis response to hypoxic stress. 19579223 2009
CUI: C0003130
Disease: Anoxia
Anoxia
0.300 Biomarker phenotype CTD_human Comparative proteomic profiles of the hepatopancreas in Fenneropenaeus chinensis response to hypoxic stress. 19579223 2009
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.300 Biomarker disease CTD_human Mitochondrial dysregulation of osteoarthritic human articular chondrocytes analyzed by proteomics: a decrease in mitochondrial superoxide dismutase points to a redox imbalance. 18784066 2009
CUI: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans
0.300 Biomarker disease CTD_human Mitochondrial dysregulation of osteoarthritic human articular chondrocytes analyzed by proteomics: a decrease in mitochondrial superoxide dismutase points to a redox imbalance. 18784066 2009
CUI: C0242184
Disease: Hypoxia
Hypoxia
0.300 Biomarker phenotype CTD_human Comparative proteomic profiles of the hepatopancreas in Fenneropenaeus chinensis response to hypoxic stress. 19579223 2009
CUI: C0700292
Disease: Hypoxemia
Hypoxemia
0.300 Biomarker phenotype CTD_human Comparative proteomic profiles of the hepatopancreas in Fenneropenaeus chinensis response to hypoxic stress. 19579223 2009
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.100 GeneticVariation disease BEFREE Rare allelic variants in ESD and INO80 increased and decreased chances for the neurological phenotype, respectively, while rare variants in APOE and MBD6 decreased the chances of WD early manifestation. 30230192 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 GeneticVariation disease BEFREE The esterase D (ESD) gene maps at a similar location as the RB gene locus and therefore serves as a potential marker for the prognosis of retinoblastoma. 19126594 2009
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.100 GeneticVariation disease BEFREE In Chinese there is a tight linkage between WD and two gene loci for esterase D and retinoblastoma in the long arm of chromosome 13. 8410043 1993
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.100 GeneticVariation disease BEFREE The Wilson disease locus has been mapped to 13q and is closely linked to the esterase D and retinoblastoma genes. 8432554 1993
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE In Chinese there is a tight linkage between WD and two gene loci for esterase D and retinoblastoma in the long arm of chromosome 13. 8410043 1993
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE Furthermore, esterase D and retinoblastoma, tightly linked in the mouse and human genomes, are not found to be closely linked in the canine genome. 8432554 1993
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.100 GeneticVariation disease BEFREE We have analyzed the segregation of esterase D (ESD) and retinoblastoma (RB) gene loci in ten families of Chinese WD subjects living in Taiwan. 1679032 1991
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE ESD in conjunction with RB polymorphism would be useful in prenatal and presymptomatic diagnosis, as well as in carrier detection in informative pedigrees. 1679032 1991
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.100 GeneticVariation disease BEFREE Linkage of the WD locus (WND) to ESD at 13q14 was first shown by studies in families of Middle Eastern origin using the isozymic polymorphism of esterase D. Using RFLPs detected by the ESD cDNA we could not confirm this reported close linkage in an analysis of 17 WD families of northwest European origin. 2227943 1990
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 GeneticVariation disease BEFREE However, it was recognition of both the deletion of band q14 of chromosome 13 in mentally retarded children with retinoblastoma, and the linkage of retinoblastoma with the genetic marker esterase D, which resulted in the eventual cloning of the gene. 2227145 1990
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.100 Biomarker disease BEFREE In this study, we carried out linkage analysis between three chromosome 13 DNA markers, D13S1, D13S10, D13S2, the locus for the red cell enzyme esterase D (ESD), and the Wilson's disease locus (WND) in 17 Wilson's disease families of Italian descent, mostly from Sardinia. 2563776 1989
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 GeneticVariation disease BEFREE With rhabdomyosarcoma metaphases, cDNA clones of the retinoblastoma susceptibility gene (RB1) and the esterase D gene (ESD), as well as the arbitrary genomic fragment 7D2 (D13S10), showed specific hybridization to the normal chromosome 13 and the der(2) marker, but not to the der(13). 2630183 1989
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE The results showed the importance of ESD studies in all retinoblastoma patients and their relatives. 2596526 1989
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.100 GeneticVariation disease BEFREE The gene encoding human esterase D (EsD), a member of the nonspecific esterase family, is a useful genetic marker for retinoblastoma (RB) and Wilson's disease. 3164702 1988
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.100 GeneticVariation disease BEFREE The WD locus (WND) has previously been linked to esterase D (ESD) and localized to 13q14-22. 3189332 1988
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.100 Biomarker disease BEFREE We have used esterase D and several polymorphic markers on 13q to investigate linkage in WD pedigrees from the United States and Canada. 3163469 1988
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 GeneticVariation disease BEFREE The breakpoint in this patient therefore must have occurred between the ESD gene and the retinoblastoma (Rb) predisposition locus. 3198126 1988
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE So, the conclusion might be drawn that screening of all retinoblastoma patients for esterase D in order to get insight in the weighting of risk of retinoblastoma is very much open to question and due to high cost efficiency ratio might not be recommended. 3164261 1988