ADD3, adducin 3, 120

N. diseases: 54; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia 		0.060 GeneticVariation disease BEFREE This study suggests that the ADD3 gene plays an important role in BA pathogenesis and reveals a significant association between two SNPs, rs17095355 and rs10509906, and BA. 25285724 2014
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia 		0.060 Biomarker disease BEFREE The role of ADD3 in biliary development is unclear, but our findings suggest that this gene may be functionally relevant for the development of BA. 24104524 2014
CUI: C4520983
Disease: Congenital atresia of extrahepatic bile duct
Congenital atresia of extrahepatic bile duct 		0.060 Biomarker disease BEFREE The role of ADD3 in biliary development is unclear, but our findings suggest that this gene may be functionally relevant for the development of BA. 24104524 2014
CUI: C4520983
Disease: Congenital atresia of extrahepatic bile duct
Congenital atresia of extrahepatic bile duct 		0.060 GeneticVariation disease BEFREE This study suggests that the ADD3 gene plays an important role in BA pathogenesis and reveals a significant association between two SNPs, rs17095355 and rs10509906, and BA. 25285724 2014
CUI: C4310767
Disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 		0.600 GeneticVariation disease UNIPROT Mutations in γ adducin are associated with inherited cerebral palsy. 23836506 2013
CUI: C4310767
Disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in γ adducin are associated with inherited cerebral palsy. 23836506 2013
CUI: C2751938
Disease: Cerebral Palsy, Spastic Quadriplegic, 1
Cerebral Palsy, Spastic Quadriplegic, 1 		0.300 GermlineCausalMutation disease ORPHANET Mutations in γ adducin are associated with inherited cerebral palsy. 23836506 2013
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.110 GeneticVariation disease BEFREE Mutations in γ adducin are associated with inherited cerebral palsy. 23836506 2013
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia 		0.060 AlteredExpression disease BEFREE Moreover, in bioinformatics and in vivo genotype-expression investigations, the BA-associated potentially regulatory SNPs correlated with ADD3 gene expression (n=36; p=0.0030). 23872602 2013
CUI: C4520983
Disease: Congenital atresia of extrahepatic bile duct
Congenital atresia of extrahepatic bile duct 		0.060 AlteredExpression disease BEFREE Moreover, in bioinformatics and in vivo genotype-expression investigations, the BA-associated potentially regulatory SNPs correlated with ADD3 gene expression (n=36; p=0.0030). 23872602 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE MiR-145 functions as a tumor-suppressive RNA by targeting Sox9 and adducin 3 in human glioma cells. 23814265 2013
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 AlteredExpression disease BEFREE Our study demonstrates that miR-145 has a tumor-suppressive function in glioblastoma in that it reduces proliferation, adhesion, and invasion of glioblastoma cells, apparently by suppressing the activity of oncogenic proteins Sox9 and ADD3. 23814265 2013
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 AlteredExpression disease BEFREE Our study demonstrates that miR-145 has a tumor-suppressive function in glioblastoma in that it reduces proliferation, adhesion, and invasion of glioblastoma cells, apparently by suppressing the activity of oncogenic proteins Sox9 and ADD3. 23814265 2013
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 AlteredExpression disease BEFREE Our study demonstrates that miR-145 has a tumor-suppressive function in glioblastoma in that it reduces proliferation, adhesion, and invasion of glioblastoma cells, apparently by suppressing the activity of oncogenic proteins Sox9 and ADD3. 23814265 2013
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 AlteredExpression disease BEFREE Our study demonstrates that miR-145 has a tumor-suppressive function in glioblastoma in that it reduces proliferation, adhesion, and invasion of glioblastoma cells, apparently by suppressing the activity of oncogenic proteins Sox9 and ADD3. 23814265 2013
CUI: C0149504
Disease: Encephalopathy, Toxic
Encephalopathy, Toxic 		0.300 Biomarker disease CTD_human Blood gene expression markers to detect and distinguish target organ toxicity. 19784758 2010
CUI: C0154659
Disease: Toxic Encephalitis
Toxic Encephalitis 		0.300 Biomarker disease CTD_human Blood gene expression markers to detect and distinguish target organ toxicity. 19784758 2010
CUI: C0235032
Disease: Neurotoxicity Syndromes
Neurotoxicity Syndromes 		0.300 Biomarker group CTD_human Blood gene expression markers to detect and distinguish target organ toxicity. 19784758 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 Biomarker disease BEFREE To date, most in vivo studies of oAbeta/ADDLs have involved injection of assemblies purified from the cerebrospinal fluid of human subjects with AD or from the conditioned media of Abeta-secreting cells into experimental animals. 20641005 2010
CUI: C0007786
Disease: Brain Ischemia
Brain Ischemia 		0.300 Biomarker disease CTD_human Tamoxifen neuroprotection in cerebral ischemia involves attenuation of kinase activation and superoxide production and potentiation of mitochondrial superoxide dismutase. 17901229 2008
CUI: C0917798
Disease: Cerebral Ischemia
Cerebral Ischemia 		0.300 Biomarker disease CTD_human Tamoxifen neuroprotection in cerebral ischemia involves attenuation of kinase activation and superoxide production and potentiation of mitochondrial superoxide dismutase. 17901229 2008
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.030 Biomarker disease BEFREE Three NUP98 chimaeras have previously been reported in T cell acute lymphoblastic leukaemia (T-ALL): NUP98/ADD3, NUP98/CCDC28A, and NUP98/RAP1GDS1. 17233820 2007
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.030 Biomarker disease BEFREE Involvement of ADD3 and C6ORF80 genes were detected, respectively, in myeloid disorders and in T-cell acute lymphoblastic leukemia (T-ALL), whereas the RAP1GDS1 gene was fused to NUP98 in T-ALL. 16467868 2006
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 Biomarker disease BEFREE ADDL concentrations for the subjects diagnosed with AD were consistently higher than the levels in the CSF taken from nondemented age-matched controls. 15695586 2005
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 GeneticVariation group BEFREE The sclerosing perineuriomas showed 46,XY,t(2;10)(p23;q24) and 47,XX,add(3)(q23),add(6)(q21),-5,-9,-10,-22,+mar1,+mar2,+mars; the intraneural tumor showed 46,XX,add(2)(q11.2),add(3)(q12); and the abdominal soft tissue perineurioma showed 46,XX,t(8;9)(q13;q22). 16096405 2005