TUBA8, tubulin alpha 8, 51807

N. diseases: 36; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750798
Disease: Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria With Optic Nerve Hypoplasia 		0.710 Biomarker disease GENOMICS_ENGLAND Epilepsy-associated genes. 28007376 2017
CUI: C2750798
Disease: Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria With Optic Nerve Hypoplasia 		0.710 Biomarker disease GENOMICS_ENGLAND Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. 19896110 2009
CUI: C2750798
Disease: Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria With Optic Nerve Hypoplasia 		0.710 Biomarker disease GENOMICS_ENGLAND Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. 19896110 2009
CUI: C2750798
Disease: Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria With Optic Nerve Hypoplasia 		0.710 GermlineCausalMutation disease ORPHANET Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. 19896110 2009
CUI: C2750798
Disease: Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria With Optic Nerve Hypoplasia 		0.710 GeneticVariation disease BEFREE Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. 19896110 2009
CUI: C2750798
Disease: Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria With Optic Nerve Hypoplasia 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C2750798
Disease: Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria With Optic Nerve Hypoplasia 		0.710 CausalMutation disease CLINVAR
CUI: C2750798
Disease: Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria With Optic Nerve Hypoplasia 		0.710 Biomarker disease CTD_human
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 GeneticVariation disease GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 Biomarker disease CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 GeneticVariation disease GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype GENOMICS_ENGLAND Epilepsy-associated genes. 28007376 2017
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype HPO
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		0.300 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		0.300 Biomarker disease CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation 		0.300 Biomarker phenotype CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation 		0.300 Biomarker phenotype CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation 		0.300 Biomarker phenotype CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation 		0.300 Biomarker phenotype CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.300 Biomarker disease PSYGENET Six genes (DAO, GRM3, GRM4, GRIN2B, IL2RB, and TUBA8) met this criterion for bipolar I disorder; only DAO has been previously associated with bipolar disorder. 16380905 2005
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.110 Biomarker disease BEFREE Homozygous mice were confirmed to lack Tuba8 protein in the testis, but did not display PMG and appeared to be neurologically normal. 28388629 2017
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.110 Biomarker disease HPO
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012