MICU1, mitochondrial calcium uptake 1, 10367

N. diseases: 76; N. variants: 5
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: C3810285
Disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS
MYOPATHY WITH EXTRAPYRAMIDAL SIGNS 		disease Disease or Syndrome 1 5 0.700 None 1.000 2 5 2014 2019
CUI: C4022568
Disease: Central core regions in muscle fibers
Central core regions in muscle fibers 		phenotype Finding 2 0.100 None 0
CUI: C4021580
Disease: Progressive extrapyramidal muscular rigidity
Progressive extrapyramidal muscular rigidity 		phenotype Finding 4 0.100 None 0
CUI: C4022745
Disease: Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity 		phenotype Anatomical Abnormality 7 1 0.100 None 0
CUI: C0410198
Disease: Proximal myopathy
Proximal myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 8 4 0.010 None 1.000 1 2014 2014
CUI: C2748610
Disease: Progressive extrapyramidal movement disorder
Progressive extrapyramidal movement disorder 		phenotype Finding 9 0.100 None 0
CUI: C0750951
Disease: Lenticulostriate Disorders
Lenticulostriate Disorders 		disease Nervous System Diseases Disease or Syndrome 12 0.300 None 1.000 1 2014 2014
CUI: C0004782
Disease: Basal Ganglia Diseases
Basal Ganglia Diseases 		group Nervous System Diseases Disease or Syndrome 19 0.300 None 1.000 1 2014 2014
CUI: C0266487
Disease: Etat Marbre
Etat Marbre 		disease Nervous System Diseases Disease or Syndrome 23 0.300 None 1.000 1 2014 2014
CUI: C1842170
Disease: Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers 		phenotype Finding 25 0.100 None 0
CUI: C0152115
Disease: Lingual-Facial-Buccal Dyskinesia
Lingual-Facial-Buccal Dyskinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 26 4 0.100 None 0
CUI: C0015371
Disease: Extrapyramidal Disorders
Extrapyramidal Disorders 		group Nervous System Diseases Disease or Syndrome 27 1 0.300 None 1.000 1 2014 2014
CUI: C0751262
Disease: Adult Learning Disorders
Adult Learning Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 29 0.300 None 1.000 1 2014 2014
CUI: C0751263
Disease: Learning Disturbance
Learning Disturbance 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 29 0.300 None 1.000 1 2014 2014
CUI: C1330966
Disease: Developmental Academic Disorder
Developmental Academic Disorder 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Finding 29 0.300 None 1.000 1 2014 2014
CUI: C0560346
Disease: Difficulty running
Difficulty running 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 38 3 0.100 None 0
CUI: C0023186
Disease: Learning Disorders
Learning Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 46 1 0.300 None 1.000 1 2014 2014
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		phenotype Finding 50 4 0.100 None 0
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		disease Nervous System Diseases Disease or Syndrome 51 32 0.010 None 1.000 1 2018 2018
CUI: C0234379
Disease: Resting Tremor
Resting Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 57 5 0.100 None 0
CUI: C1883018
Disease: Severe Aplastic Anemia
Severe Aplastic Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 70 4 0.010 None 1.000 1 1993 1993
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 94 13 0.010 None 1.000 1 2016 2016
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		disease Nervous System Diseases Disease or Syndrome 94 12 0.100 None 0
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 103 5 0.300 None 1.000 1 2014 2014
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 112 11 0.100 None 0