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: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2019 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: 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: 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: C0685661
Disease: Congenital anomaly of ischium
Congenital anomaly of ischium 		disease Congenital Abnormality 1 1 0.100 None 0 1
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 180 101 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: 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: 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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 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 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: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.010 None < 0.001 1 2018 2018
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: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.010 None 1.000 1 2015 2015
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		disease Nervous System Diseases Disease or Syndrome 93 36 0.010 None 1.000 1 2015 2015
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: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.110 None 1.000 1 2016 2016
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 473 37 0.010 None 1.000 1 2017 2017
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.010 None 1.000 1 2012 2012
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.110 None 1.000 1 1 2018 2018