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.
Abnormal basal ganglia MRI signal intensity
phenotype Anatomical Abnormality 7 1 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 977 39 0.020 None 1.000 2 2017 2018
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: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2018 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2018 2018
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections
group Infections Disease or Syndrome 616 17 0.010 None 1.000 1 2011 2011
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: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None 1.000 1 2017 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.010 None 1.000 1 2017 2017
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: C0020456
Disease: Hyperglycemia
Hyperglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.010 None 1.000 1 2017 2017
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 472 83 0.010 None 1.000 1 2017 2017
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 94 13 0.010 None 1.000 1 2016 2016
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group Nervous System Diseases Disease or Syndrome 362 247 0.310 None 1.000 1 2014 2014
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.310 None 1.000 1 2014 2014
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
group Nervous System Diseases Disease or Syndrome 171 50 0.010 None 1.000 1 2019 2019
CUI: C0030552
Disease: Paresis
Paresis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 216 49 0.010 None 1.000 1 2019 2019
CUI: C0036690
Disease: Septicemia
Septicemia
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1285 141 0.010 None 1.000 1 2011 2011
CUI: C0243026
Disease: Sepsis
Sepsis
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.010 None 1.000 1 2011 2011
CUI: C0266487
Disease: Etat Marbre
Etat Marbre
disease Nervous System Diseases Disease or Syndrome 23 0.300 None 1.000 1 2014 2014
CUI: C0342649
Disease: Vascular calcification
Vascular calcification
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 257 3 0.010 None 1.000 1 2018 2018
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: C0750951
Disease: Lenticulostriate Disorders
Lenticulostriate Disorders
disease Nervous System Diseases Disease or Syndrome 12 0.300 None 1.000 1 2014 2014
CUI: C0853897
Disease: Diabetic Cardiomyopathies
Diabetic Cardiomyopathies
disease Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 220 1 0.010 None 1.000 1 2017 2017