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: C0342287
Disease: Thiamine responsive megaloblastic anemia syndrome
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: 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: 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: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.040 None 1.000 4 1 1998 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: 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: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		phenotype Clinical Attribute 75 226 0.100 None 1.000 2 1 2014 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
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: 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: 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: C0040128
Disease: Thyroid Diseases
Thyroid Diseases 		group Endocrine System Diseases Disease or Syndrome 230 26 0.010 None 1.000 1 2004 2004
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		phenotype Cardiovascular Diseases Pathologic Function 117 218 0.100 None 1.000 1 1 2012 2012
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
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
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
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
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
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
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
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 41 30 0.010 None 1.000 1 1 2013 2013
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
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