GLRB, glycine receptor beta, 2743

N. diseases: 39; N. variants: 8
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: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		disease Congenital Abnormality 99 50 0.010 None 1.000 1 2019 2019
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.100 None 0
CUI: C3553291
Disease: HYPEREKPLEXIA 2
HYPEREKPLEXIA 2 		disease Disease or Syndrome 2 6 0.800 None 1.000 6 6 1970 2013
CUI: C1835614
Disease: Hereditary Hyperexplexia
Hereditary Hyperexplexia 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 2 0.510 None 1.000 3 1970 2012
CUI: C0477362
Disease: Other specified extrapyramidal and movement disorders
Other specified extrapyramidal and movement disorders 		disease Disease or Syndrome 2 0.200 None 1.000 2 1970 1996
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.010 None 1.000 1 2017 2017
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		disease Nervous System Diseases Disease or Syndrome 93 36 0.010 None 1.000 1 2001 2001
CUI: C4084968
Disease: Hereditary Hyperekplexia
Hereditary Hyperekplexia 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 2012 2012
CUI: C0004106
Disease: Astigmatism
Astigmatism 		disease Eye Diseases Disease or Syndrome 148 45 0.100 None 0
CUI: C0014868
Disease: Esophagitis
Esophagitis 		disease Digestive System Diseases Disease or Syndrome 105 7 0.100 None 0
CUI: C0014877
Disease: Esotropia
Esotropia 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 121 39 0.100 None 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		disease Digestive System Diseases Disease or Syndrome 446 52 0.100 None 0
CUI: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 490 167 0.100 None 0
CUI: C3489393
Disease: Hiatal Hernia
Hiatal Hernia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 39 3 0.100 None 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 197 21 0.100 None 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 0.100 None 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 0.100 None 0
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response 		phenotype Finding 18 4 0.100 None 0
CUI: C4293678
Disease: Glabellar reflex
Glabellar reflex 		phenotype Finding 3 0.100 None 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype Finding 299 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype Finding 477 0.100 None 0
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 175 101 0.030 None 1.000 3 2 2017 2017
CUI: C0001818
Disease: Agoraphobia
Agoraphobia 		disease Mental Disorders Mental or Behavioral Dysfunction 29 11 0.020 None 1.000 2 1 2017 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.020 None 1.000 2 2013 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.010 None 1.000 1 2004 2004