SLC20A2, solute carrier family 20 member 2, 6575

N. diseases: 104; N. variants: 36
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.
Primary familial brain calcification
disease Nutritional and Metabolic Diseases Congenital Abnormality 12 6 0.200 None 1.000 27 1 2014 2020
Idiopathic basal ganglia calcification 1
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 26 0.760 None 1.000 13 23 2005 2017
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.040 None 1.000 4 2013 2018
CUI: C0342649
Disease: Vascular calcification
Vascular calcification
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 257 3 0.030 None 1.000 3 2013 2018
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 373 95 0.120 None 1.000 2 2017 2017
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.020 None 1.000 2 2015 2017
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype Laboratory or Test Result 269 549 0.100 None 1.000 2 2 2016 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2014 2014
Corpuscular Hemoglobin Concentration Mean
phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 2 9 2012 2018
CUI: C0263628
Disease: Tumoral calcinosis
Tumoral calcinosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 45 3 0.300 None 1.000 1 2015 2015
CUI: C0243026
Disease: Sepsis
Sepsis
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.010 None 1.000 1 2001 2001
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 233 30 0.010 None 1.000 1 2014 2014
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Acquired Abnormality 12 1 0.010 None 1.000 1 2018 2018
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
group Nervous System Diseases Disease or Syndrome 512 264 0.010 None 1.000 1 2014 2014
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 69 5 0.010 None 1.000 1 2010 2010
CUI: C0042907
Disease: Vitreous Detachment
Vitreous Detachment
disease Eye Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 153 37 0.010 None 1.000 1 2014 2014
CUI: C0041948
Disease: Uremia
Uremia
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 110 2 0.010 None 1.000 1 2018 2018
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2019 2019
CUI: C0266667
Disease: Cyclocephaly
Cyclocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 35 0.010 None 1.000 1 2017 2017
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
group Nervous System Diseases Disease or Syndrome 167 37 0.010 None 1.000 1 2014 2014
Placental abnormalities (excl neoplasms)
disease Disease or Syndrome 12 0.010 None 1.000 1 2016 2016
CUI: C0750951
Disease: Lenticulostriate Disorders
Lenticulostriate Disorders
disease Nervous System Diseases Disease or Syndrome 12 0.300 None 1.000 1 2015 2015
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
disease Neoplasms Neoplastic Process 2247 151 0.010 None 1.000 1 2019 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2019 2019