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: C0542476
Disease: Forgetful
Forgetful
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 429 18 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype Nervous System Diseases Finding 410 0.100 None 0
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: C0079924
Disease: Oligohydramnios
Oligohydramnios
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 129 21 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
CUI: C0424448
Disease: Mask-like facies
Mask-like facies
phenotype Nervous System Diseases Finding 64 2 0.100 None 0
CUI: C0042109
Disease: Urticaria
Urticaria
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 168 11 0.100 None 0 1
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 151 14 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: C0040822
Disease: Tremor
Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.100 None 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 0
CUI: C0037763
Disease: Spasm
Spasm
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 9 0.100 None 0 1
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
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: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 0.100 None 0
CUI: C1389280
Disease: Basal ganglia calcification
Basal ganglia calcification
phenotype Pathologic Function 22 3 0.100 None 0 3
CUI: C0575081
Disease: Gait abnormality
Gait abnormality
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 0.100 None 0
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 94 16 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: C0685661
Disease: Congenital anomaly of ischium
Congenital anomaly of ischium
disease Congenital Abnormality 1 1 0.100 None 0 1
CUI: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0
phenotype Finding 108 0.100 None 0
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification
phenotype Nutritional and Metabolic Diseases; Nervous System Diseases Finding 103 8 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: C0240341
Disease: Micrographia
Micrographia
phenotype Finding 14 0.100 None 0
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