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.
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: C4023353
Disease: Abnormality of coordination
Abnormality of coordination
phenotype Finding 2 3 0.100 None 0 1
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype Finding 50 58 0.100 None 0 1
CUI: C0151480
Disease: Anti-nuclear factor positive
Anti-nuclear factor positive
phenotype Skin and Connective Tissue Diseases Laboratory or Test Result 35 3 0.100 None 0 1
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.100 None 0 2
CUI: C0004158
Disease: Athetosis
Athetosis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 39 3 0.100 None 0
CUI: C0004604
Disease: Back Pain
Back Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 110 10 0.100 None 0 1
CUI: C1389280
Disease: Basal ganglia calcification
Basal ganglia calcification
phenotype Pathologic Function 22 3 0.100 None 0 3
CUI: C0004782
Disease: Basal Ganglia Diseases
Basal Ganglia Diseases
group Nervous System Diseases Disease or Syndrome 19 0.300 None 1.000 1 2015 2015
CUI: C0005940
Disease: Bone Diseases
Bone Diseases
group Musculoskeletal Diseases Disease or Syndrome 317 10 0.010 None 1.000 1 2018 2018
CUI: C0233565
Disease: Bradykinesia
Bradykinesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 133 16 0.100 None 0
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 31 7 0.100 None 0 1
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery
phenotype Nutritional and Metabolic Diseases; Cardiovascular Diseases Pathologic Function 51 205 0.100 None 0 1
Calcification of the small brain vessels
phenotype Pathologic Function 3 0.100 None 0
CUI: C0006663
Disease: Calcinosis
Calcinosis
phenotype Nutritional and Metabolic Diseases Pathologic Function 52 0.300 None 1.000 1 2015 2015
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.010 None < 0.001 1 2018 2018
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification
phenotype Nutritional and Metabolic Diseases; Nervous System Diseases Finding 103 8 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
disease Neoplasms Neoplastic Process 2208 151 0.010 None 1.000 1 2019 2019
CUI: C0008489
Disease: Chorea
Chorea
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 168 20 0.100 None 0
CUI: C0401149
Disease: Chronic constipation
Chronic constipation
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 47 16 0.100 None 0 1
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: C0685661
Disease: Congenital anomaly of ischium
Congenital anomaly of ischium
disease Congenital Abnormality 1 1 0.100 None 0 1
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype Eye Diseases Finding 113 5 0.100 None 0
Corpuscular Hemoglobin Concentration Mean
phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 2 9 2012 2018