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.
Thiamine-responsive megaloblastic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 4 0.500 limited 1.000 16 1999 2019
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: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.040 None 1.000 4 2013 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: 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: 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
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 30 19 0.020 None 1.000 2 2017 2019
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
DIABETES MELLITUS, PERMANENT NEONATAL
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 20 108 0.010 None 1.000 1 2018 2018
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
group Eye Diseases Disease or Syndrome 714 56 0.010 None 1.000 1 2016 2016
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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.010 None 1.000 1 2019 2019
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 1 2014 2014
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: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 29 11 0.010 None 1.000 1 2009 2009
Secondary malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 1370 20 0.010 None 1.000 1 2019 2019
CUI: C0155550
Disease: Neural hearing loss
Neural hearing loss
disease Otorhinolaryngologic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2016 2016
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease Eye Diseases Disease or Syndrome 83 109 0.010 None 1.000 1 2014 2014
Maturity onset diabetes mellitus in young
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 105 49 0.010 None 1.000 1 2019 2019
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
Secondary malignant neoplasm of colon and/or rectum
disease Digestive System Diseases; Neoplasms Neoplastic Process 397 68 0.010 None 1.000 1 2019 2019
Secondary malignant neoplasm of lymph node
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.010 None 1.000 1 2019 2019
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