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 Biomarker disease CTD_human
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: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.400 GeneticVariation disease GWASCAT Evidence for genetic heterogeneity between clinical subtypes of bipolar disorder. 28072414 2017
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
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: C0338831
Disease: Manic
Manic 		0.300 Biomarker disease CTD_human Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
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: 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: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.110 CausalMutation disease CLINVAR
CUI: C0015310
Disease: Exotropia
Exotropia 		0.100 Biomarker disease HPO
CUI: C0023882
Disease: Little's Disease
Little's Disease 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 Biomarker disease HPO
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: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
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