GLRA1, glycine receptor alpha 1, 2741

N. diseases: 75; N. variants: 32
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		0.700 CausalMutation phenotype CLINVAR
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1835614
Disease: Hereditary Hyperexplexia
Hereditary Hyperexplexia 		0.370 Biomarker disease CTD_human
CUI: C0003578
Disease: Apnea
Apnea 		0.110 Biomarker phenotype HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.110 CausalMutation disease CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.110 CausalMutation phenotype CLINVAR
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0014868
Disease: Esophagitis
Esophagitis 		0.100 Biomarker disease HPO
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation 		0.100 Biomarker phenotype HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.100 Biomarker phenotype HPO
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.100 Biomarker phenotype HPO
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.100 Biomarker phenotype HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.100 Biomarker phenotype HPO
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.100 Biomarker phenotype HPO
CUI: C0086439
Disease: Hypokinesia
Hypokinesia 		0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		0.100 Biomarker phenotype HPO
CUI: C0220787
Disease: Endotracheal aspiration
Endotracheal aspiration 		0.100 Biomarker phenotype HPO
CUI: C0221170
Disease: Muscular stiffness
Muscular stiffness 		0.100 Biomarker phenotype HPO
CUI: C0393719
Disease: Nocturnal epilepsy
Nocturnal epilepsy 		0.100 Biomarker disease HPO
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0.100 Biomarker group HPO
CUI: C0700198
Disease: Pulmonary aspiration
Pulmonary aspiration 		0.100 Biomarker phenotype HPO