GLRA1, glycine receptor alpha 1, 2741

N. diseases: 75; N. variants: 32
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4255079
Disease: Familial Hyperekplexia
Familial Hyperekplexia 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2008 2008
CUI: C4551954
Disease: HYPEREKPLEXIA 1
HYPEREKPLEXIA 1 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 23 0.600 None 1.000 24 23 1992 2017
CUI: C4084968
Disease: Hereditary Hyperekplexia
Hereditary Hyperekplexia 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 2 1 0.060 None 1.000 6 1 1994 2019
CUI: C3553291
Disease: HYPEREKPLEXIA 2
HYPEREKPLEXIA 2 		disease Disease or Syndrome 2 6 0.010 None 1.000 1 1999 1999
CUI: C0748605
Disease: nocturnal seizures
nocturnal seizures 		phenotype Finding 2 0.100 None 0
CUI: C0393719
Disease: Nocturnal epilepsy
Nocturnal epilepsy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 4 2 0.100 None 0
CUI: C1861457
Disease: PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY
PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY 		disease Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2013 2013
CUI: C1835614
Disease: Hereditary Hyperexplexia
Hereditary Hyperexplexia 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 2 0.370 None 1.000 7 1 1993 2019
CUI: C0752198
Disease: Adult-Onset Idiopathic Focal Dystonias
Adult-Onset Idiopathic Focal Dystonias 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2006 2006
CUI: C0752199
Disease: Adult-Onset Idiopathic Torsion Dystonias
Adult-Onset Idiopathic Torsion Dystonias 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2006 2006
CUI: C0752200
Disease: Autosomal Dominant Familial Dystonia
Autosomal Dominant Familial Dystonia 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2006 2006
CUI: C0752201
Disease: Autosomal Recessive Familial Dystonia
Autosomal Recessive Familial Dystonia 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2006 2006
CUI: C0752206
Disease: Dystonias, Sporadic
Dystonias, Sporadic 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2006 2006
CUI: C0752208
Disease: Pseudodystonia
Pseudodystonia 		disease Nervous System Diseases Mental or Behavioral Dysfunction 7 0.300 None 1.000 1 2006 2006
CUI: C0393598
Disease: Idiopathic familial dystonia
Idiopathic familial dystonia 		disease Nervous System Diseases Disease or Syndrome 9 0.300 None 1.000 1 2006 2006
CUI: C0752197
Disease: Adult-Onset Dystonias
Adult-Onset Dystonias 		disease Nervous System Diseases Disease or Syndrome 9 2 0.300 None 1.000 1 2006 2006
CUI: C0752205
Disease: Dystonia, Secondary
Dystonia, Secondary 		disease Nervous System Diseases Disease or Syndrome 10 0.300 None 1.000 1 2006 2006
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		phenotype Nervous System Diseases Sign or Symptom 13 36 0.700 moderate 0.979 47 19 1992 2019
CUI: C0752202
Disease: Childhood Onset Dystonias
Childhood Onset Dystonias 		disease Nervous System Diseases Disease or Syndrome 13 8 0.300 None 1.000 1 2006 2006
CUI: C0220787
Disease: Endotracheal aspiration
Endotracheal aspiration 		phenotype Pathologic Function 13 0.100 None 0
CUI: C0700198
Disease: Pulmonary aspiration
Pulmonary aspiration 		phenotype Respiratory Tract Diseases Pathologic Function 13 0.100 None 0
CUI: C1963221
Disease: Aspiration, CTCAE
Aspiration, CTCAE 		phenotype Finding 13 0.100 None 0
CUI: C2827071
Disease: Unintentional Material Aspiration
Unintentional Material Aspiration 		phenotype Finding 13 0.100 None 0
CUI: C0752207
Disease: Familial Dystonia
Familial Dystonia 		disease Nervous System Diseases Disease or Syndrome 15 0.300 None 1.000 1 2006 2006
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response 		phenotype Finding 18 4 0.100 None 0