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: C0042907
Disease: Vitreous Detachment
Vitreous Detachment 		disease Eye Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0521668
Disease: Primary Thunderclap Headache
Primary Thunderclap Headache 		phenotype Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0685661
Disease: Congenital anomaly of ischium
Congenital anomaly of ischium 		disease Congenital Abnormality 1 1 0.100 None 0 1
CUI: C1854913
Disease: Soft tissue swelling of interphalangeal joints
Soft tissue swelling of interphalangeal joints 		phenotype Finding 2 1 0.100 None 0 1
CUI: C4023353
Disease: Abnormality of coordination
Abnormality of coordination 		phenotype Finding 2 3 0.100 None 0 1
CUI: C1859273
Disease: Dense calcifications in the cerebellar dentate nucleus
Dense calcifications in the cerebellar dentate nucleus 		phenotype Finding 3 0.100 None 0
CUI: C4025703
Disease: Calcification of the small brain vessels
Calcification of the small brain vessels 		phenotype Pathologic Function 3 0.100 None 0
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
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: C0236000
Disease: Jaw pain
Jaw pain 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Stomatognathic Diseases Sign or Symptom 6 1 0.100 None 0 1
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		phenotype Finding 7 7 0.100 None 0 1
CUI: C0423361
Disease: Posterior Vitreous Detachment
Posterior Vitreous Detachment 		disease Eye Diseases Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
CUI: C0393590
Disease: Fahr's syndrome (disorder)
Fahr's syndrome (disorder) 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 10 3 0.730 strong 1.000 7 2012 2019
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		disease Nutritional and Metabolic Diseases Congenital Abnormality 12 6 0.200 None 1.000 27 1 2014 2020
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: C0750951
Disease: Lenticulostriate Disorders
Lenticulostriate Disorders 		disease Nervous System Diseases Disease or Syndrome 12 0.300 None 1.000 1 2015 2015
CUI: C0852262
Disease: Placental abnormalities (excl neoplasms)
Placental abnormalities (excl neoplasms) 		disease Disease or Syndrome 12 0.010 None 1.000 1 2016 2016
CUI: C0240341
Disease: Micrographia
Micrographia 		phenotype Finding 14 0.100 None 0
CUI: C0854107
Disease: Subcutaneous hemorrhage
Subcutaneous hemorrhage 		disease Skin and Connective Tissue Diseases Disease or Syndrome 16 0.100 None 0
CUI: C1854489
Disease: Limb dysmetria
Limb dysmetria 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 6 0.100 None 0
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: C0085610
Disease: Sinus bradycardia
Sinus bradycardia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 22 2 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: C0015371
Disease: Extrapyramidal Disorders
Extrapyramidal Disorders 		group Nervous System Diseases Disease or Syndrome 27 1 0.300 None 1.000 1 2015 2015
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: 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