Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310691
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 		0.700 CausalMutation disease CLINVAR
CUI: C4310691
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 		0.700 Biomarker disease CTD_human
CUI: C4310691
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 		0.700 GeneticVariation disease CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		0.100 Biomarker phenotype HPO
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker disease HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		0.100 Biomarker disease HPO
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		0.100 Biomarker phenotype HPO
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.340 Biomarker disease PSYGENET Human chromosomes 11p15 and 4p12 and alcohol dependence: possible association with the GABRB1 gene. 10490712 1999
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.340 GeneticVariation disease BEFREE Human chromosomes 11p15 and 4p12 and alcohol dependence: possible association with the GABRB1 gene. 10490712 1999
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.340 Biomarker disease BEFREE This analysis supports the previous finding that the region close to GABRB1 on chromosome 4 might be associated with alcohol dependence. 10597459 1999
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.340 Biomarker disease PSYGENET This analysis supports the previous finding that the region close to GABRB1 on chromosome 4 might be associated with alcohol dependence. 10597459 1999
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.340 Biomarker disease PSYGENET Three chromosome 4 markers located in a region of 50 cM spanning from GABRB1 to D4S1651 provided Monte Carlo (MC) p-values lower than 0.005, confirming the possible influence of beta 1 GABA receptor and ADH genes in alcoholism. 10597473 1999
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.340 Biomarker disease BEFREE Three chromosome 4 markers located in a region of 50 cM spanning from GABRB1 to D4S1651 provided Monte Carlo (MC) p-values lower than 0.005, confirming the possible influence of beta 1 GABA receptor and ADH genes in alcoholism. 10597473 1999
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.340 Biomarker disease PSYGENET We found consistent, although weak, linkage disequilibrium between GABRB1 (located on chromosome 4) and alcoholism (P < 0.03). 12555233 2003
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.340 GeneticVariation disease BEFREE We found consistent, although weak, linkage disequilibrium between GABRB1 (located on chromosome 4) and alcoholism (P < 0.03). 12555233 2003
CUI: C0019151
Disease: Hepatic Encephalopathy
Hepatic Encephalopathy 		0.500 Biomarker disease RGD Expression of gamma-aminobutyric acid A receptor subunits alpha1, beta1, gamma2 mRNA in rats with hepatic encephalopathy. 15929193 2005
CUI: C0019151
Disease: Hepatic Encephalopathy
Hepatic Encephalopathy 		0.500 Biomarker disease CTD_human Expression of gamma-aminobutyric acid A receptor subunits alpha1, beta1, gamma2 mRNA in rats with hepatic encephalopathy. 15929193 2005
CUI: C0019147
Disease: Hepatic Coma
Hepatic Coma 		0.300 Biomarker disease CTD_human Expression of gamma-aminobutyric acid A receptor subunits alpha1, beta1, gamma2 mRNA in rats with hepatic encephalopathy. 15929193 2005
CUI: C0751197
Disease: Fulminant Hepatic Failure with Cerebral Edema
Fulminant Hepatic Failure with Cerebral Edema 		0.300 Biomarker disease CTD_human Expression of gamma-aminobutyric acid A receptor subunits alpha1, beta1, gamma2 mRNA in rats with hepatic encephalopathy. 15929193 2005