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: 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: 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: 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: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.050 None 1.000 5 2 1994 2006
CUI: C1292779
Disease: Myelodysplastic Syndrome with Isolated del(5q)
Myelodysplastic Syndrome with Isolated del(5q) 		disease Hemic and Lymphatic Diseases Neoplastic Process 41 1 0.020 None 1.000 2 2002 2008
CUI: C1802398
Disease: Chromosome 5, trisomy 5q
Chromosome 5, trisomy 5q 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 42 1 0.020 None 1.000 2 2002 2008
CUI: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.020 None 1.000 2 2016 2017
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 45 1 0.020 None 1.000 2 2002 2008
CUI: C0563625
Disease: Agnosia for Pain
Agnosia for Pain 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 204 25 0.010 None 1.000 1 2018 2018
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		disease Nervous System Diseases Disease or Syndrome 19 5 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: 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: 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: 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: 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: C0743332
Disease: Focal Dystonia
Focal Dystonia 		disease Nervous System Diseases Disease or Syndrome 21 8 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: C0752206
Disease: Dystonias, Sporadic
Dystonias, Sporadic 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2006 2006
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp 		disease Nervous System Diseases Disease or Syndrome 26 3 0.300 None 1.000 1 2006 2006
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: C3553291
Disease: HYPEREKPLEXIA 2
HYPEREKPLEXIA 2 		disease Disease or Syndrome 2 6 0.010 None 1.000 1 1999 1999
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: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2019 2019