Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 Biomarker disease CTD_human These results confirmed our earlier findings, indicating GABRA4 and GABRB1 as genes contributing to autism susceptibility, extending the effect to multiple ethnic groups and suggesting seizures as a stratifying phenotype. 16770606 2006
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 Biomarker disease CTD_human Through the convergence of all analyses, we conclude that GABRA4 is involved in the etiology of autism and potentially increases autism risk through interaction with GABRB1. 16080114 2005
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.300 Biomarker disease PSYGENET We have previously reported evidence that variation at GABA(A) receptor genes is associated with susceptibility to bipolar disorder with schizophrenia-like psychotic features (Research Diagnostic Criteria (RDC) schizoaffective disorder, bipolar type) with gene-wide significance at GABRB1, GABRA4, GABRB3, GABRA5, and GABRR3. 20583128 2010
CUI: C0270496
Disease: Schizoaffective disorder, bipolar type
Schizoaffective disorder, bipolar type 		0.300 Biomarker disease PSYGENET Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder. 20583128 2010
CUI: C0004134
Disease: Ataxia
Ataxia 		0.300 Biomarker phenotype CTD_human Egr3 stimulation of GABRA4 promoter activity as a mechanism for seizure-induced up-regulation of GABA(A) receptor alpha4 subunit expression. 16091474 2005
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		0.300 Biomarker phenotype CTD_human Egr3 stimulation of GABRA4 promoter activity as a mechanism for seizure-induced up-regulation of GABA(A) receptor alpha4 subunit expression. 16091474 2005
CUI: C0278161
Disease: Ataxia, Motor
Ataxia, Motor 		0.300 Biomarker phenotype CTD_human Egr3 stimulation of GABRA4 promoter activity as a mechanism for seizure-induced up-regulation of GABA(A) receptor alpha4 subunit expression. 16091474 2005
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		0.300 Biomarker phenotype CTD_human Egr3 stimulation of GABRA4 promoter activity as a mechanism for seizure-induced up-regulation of GABA(A) receptor alpha4 subunit expression. 16091474 2005
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		0.300 Biomarker phenotype CTD_human Egr3 stimulation of GABRA4 promoter activity as a mechanism for seizure-induced up-regulation of GABA(A) receptor alpha4 subunit expression. 16091474 2005
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		0.300 Biomarker phenotype CTD_human Egr3 stimulation of GABRA4 promoter activity as a mechanism for seizure-induced up-regulation of GABA(A) receptor alpha4 subunit expression. 16091474 2005
CUI: C0750940
Disease: Tremor, Rubral
Tremor, Rubral 		0.300 Biomarker disease CTD_human Egr3 stimulation of GABRA4 promoter activity as a mechanism for seizure-induced up-regulation of GABA(A) receptor alpha4 subunit expression. 16091474 2005
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 GeneticVariation disease UNIPROT