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: 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: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.400 GeneticVariation disease GWASCAT Evidence for genetic heterogeneity between clinical subtypes of bipolar disorder. 28072414 2017
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: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
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 GeneticVariation disease BEFREE ADD3 and ADD3-AS1 variants increased susceptibility to BA, suggesting that these genes may play an additive role in the pathogenesis of the disease. 29508064 2018
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia 		0.060 GeneticVariation disease BEFREE As a member of membrane skeletal proteins in the liver and bile ducts, a haplotype composed by five single nucleotide polymorphisms (SNPs) on adducin 3 (<i>ADD3</i>) has been identified as associated with BA. 29685956 2018
CUI: C4520983
Disease: Congenital atresia of extrahepatic bile duct
Congenital atresia of extrahepatic bile duct 		0.060 GeneticVariation disease BEFREE As a member of membrane skeletal proteins in the liver and bile ducts, a haplotype composed by five single nucleotide polymorphisms (SNPs) on adducin 3 (<i>ADD3</i>) has been identified as associated with BA. 29685956 2018
CUI: C4520983
Disease: Congenital atresia of extrahepatic bile duct
Congenital atresia of extrahepatic bile duct 		0.060 GeneticVariation disease BEFREE ADD3 and ADD3-AS1 variants increased susceptibility to BA, suggesting that these genes may play an additive role in the pathogenesis of the disease. 29508064 2018
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: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.030 GeneticVariation disease BEFREE NUP98 is fused to adducin 3 in a patient with T-cell acute lymphoblastic leukemia and myeloid markers, with a new translocation t(10;11)(q25;p15). 12810632 2003
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
CUI: C0751691
Disease: Perineurioma
Perineurioma 		0.010 GeneticVariation disease 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
CUI: C1291077
Disease: Abdominal bloating
Abdominal bloating 		0.010 GeneticVariation phenotype BEFREE During bloat and active decay (87-209 ADD/3-7 Days; exhibiting TBS of 11-20), Diptera was the most abundant eukaryotic taxa. 31233889 2019
CUI: C1370657
Disease: Soft tissue perineurioma
Soft tissue perineurioma 		0.010 GeneticVariation disease 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 GeneticVariation group BEFREE Here, we identified three families with mutations in ADD3, encoding for adducin-γ, with intellectual disability, microcephaly, cataracts and skeletal defects. 29768408 2018
CUI: C4310767
Disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 		0.600 Biomarker disease CTD_human
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: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.400 Biomarker disease CTD_human Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
CUI: C0005587
Disease: Depression, Bipolar
Depression, Bipolar 		0.300 Biomarker disease CTD_human Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
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: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0024713
Disease: Manic Disorder
Manic Disorder 		0.300 Biomarker disease CTD_human Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019