GNB1, G protein subunit beta 1, 2782

N. diseases: 34; N. variants: 11
Source: CLINVAR ×
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: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 		disease Disease or Syndrome 1 6 0.700 None 1.000 1 6 2015 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 303 505 0.420 strong 1.000 1 9 2016 2019
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 237 417 0.410 strong 1.000 1 8 2015 2016
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1 1 0.400 None 0 1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 336 579 0.100 None 1.000 5 9 2000 2017
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		phenotype Finding 7 9 0.100 None 1.000 1 3 2016 2016
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function 21 27 0.100 None 1.000 1 2 2016 2016
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease Mental Disorders Disease or Syndrome 39 78 0.100 None 1.000 1 2 2016 2016
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 10 12 0.100 None 1.000 1 3 2016 2016
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 1.000 1 5 2016 2016
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 15 24 0.100 None 1.000 1 3 2016 2016
CUI: C4023476
Disease: EEG with generalized epileptiform discharges
EEG with generalized epileptiform discharges 		phenotype Finding 2 4 0.100 None 1.000 1 3 2016 2016
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 89 118 0.100 None 1.000 1 3 2016 2016
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 17 21 0.100 None 1.000 1 2 2016 2016
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 31 40 0.100 None 1.000 1 3 2016 2016
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		phenotype Disease or Syndrome 16 25 0.100 None 1.000 1 3 2016 2016
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 7 10 0.100 None 1.000 1 3 2016 2016
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 45 62 0.100 None 1.000 1 3 2016 2016
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 62 83 0.100 None 1.000 1 2 2016 2016
CUI: C0038379
Disease: Strabismus
Strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 61 85 0.100 None 1.000 1 4 2016 2016
CUI: C4021898
Disease: Upper limb hypertonia
Upper limb hypertonia 		phenotype Anatomical Abnormality 4 4 0.100 None 0 1
CUI: C4022737
Disease: Neurodevelopmental abnormality
Neurodevelopmental abnormality 		phenotype Pathologic Function 6 19 0.100 None 0 1
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		phenotype Finding 17 24 0.100 None 0 1
CUI: C0014877
Disease: Esotropia
Esotropia 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 33 38 0.100 None 0 1
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 42 61 0.100 None 0 2