SLC19A2, solute carrier family 19 member 2, 10560

N. diseases: 70; N. variants: 15
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: C0003123
Disease: Anorexia
Anorexia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 242 10 0.100 None 0
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.100 None 0
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.100 None 0
CUI: C0018681
Disease: Headache
Headache
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 338 75 0.100 None 0
Paroxysmal Atrial Tachycardia, CTCAE
phenotype Finding 1 0.100 None 0
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
disease Cardiovascular Diseases Disease or Syndrome 411 50 0.100 None 0
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 1172 115 0.010 None 1.000 1 1982 1982
Thiamine responsive megaloblastic anemia syndrome
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Congenital Abnormality 3 11 1.000 None 1.000 35 11 1997 2019
CUI: C0039841
Disease: Thiamine Deficiency
Thiamine Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 17 0.030 None 1.000 3 1997 2009
CUI: C0005122
Disease: Beriberi
Beriberi
disease Nutritional and Metabolic Diseases Disease or Syndrome 16 0.020 None 1.000 2 1997 2009
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.200 None 1.000 10 1 1998 2019
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.040 None 1.000 4 1 1998 2019
Thiamine-responsive megaloblastic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 4 0.500 limited 1.000 16 1999 2019
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.010 None < 0.001 1 2001 2001
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic
disease Hemic and Lymphatic Diseases Disease or Syndrome 26 2 0.170 None 1.000 7 2002 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.020 None 1.000 2 2003 2003
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.020 None 1.000 2 2003 2003
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2003 2003
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.020 None 1.000 2 2004 2016
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
group Endocrine System Diseases Disease or Syndrome 230 26 0.010 None 1.000 1 2004 2004
CUI: C0349464
Disease: Wernicke-Korsakoff Syndrome
Wernicke-Korsakoff Syndrome
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 8 0.010 None 1.000 1 2005 2005
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 304 122 0.010 None 1.000 1 2005 2005
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 42 33 0.310 strong 1.000 2 2007 2012