SLC40A1, solute carrier family 40 member 1, 30061

N. diseases: 101; N. variants: 31
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: C0264134
Disease: Hallux Rigidus
Hallux Rigidus 		disease Musculoskeletal Diseases Disease or Syndrome 1 0.020 None 1.000 2 2017 2018
CUI: C1851316
Disease: Iron Overload, Autosomal Dominant
Iron Overload, Autosomal Dominant 		disease Nutritional and Metabolic Diseases Disease or Syndrome 2 5 0.040 None 1.000 4 2 2003 2018
CUI: C2931082
Disease: Familial apoceruloplasmin deficiency
Familial apoceruloplasmin deficiency 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2010 2010
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
HEMOCHROMATOSIS, TYPE 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 26 1.000 None 1.000 38 23 1999 2019
CUI: C4050313
Disease: ROSE Cluster 2
ROSE Cluster 2 		disease Neoplastic Process 5 0.010 None 1.000 1 2016 2016
CUI: C0019054
Disease: Hemolysis (disorder)
Hemolysis (disorder) 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 6 0.300 None 1.000 1 2014 2014
CUI: C0312854
Disease: Extravascular Hemolysis
Extravascular Hemolysis 		disease Pathological Conditions, Signs and Symptoms Pathologic Function 6 0.300 None 1.000 1 2014 2014
CUI: C0039520
Disease: Tenosynovitis
Tenosynovitis 		disease Musculoskeletal Diseases Disease or Syndrome 7 0.010 None 1.000 1 2019 2019
CUI: C0878682
Disease: Ceruloplasmin deficiency
Ceruloplasmin deficiency 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 8 51 0.300 None 1.000 1 2010 2010
CUI: C0948120
Disease: Hepatic siderosis
Hepatic siderosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 8 1 0.010 None < 0.001 1 2004 2004
CUI: C0281782
Disease: asymptomatic hyperuricemia
asymptomatic hyperuricemia 		disease Disease or Syndrome 9 1 0.010 None 1.000 1 2017 2017
CUI: C0348944
Disease: Hyperuricemia without signs of inflammatory arthritis and tophaceous disease
Hyperuricemia without signs of inflammatory arthritis and tophaceous disease 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 9 1 0.010 None 1.000 1 2017 2017
CUI: C0158458
Disease: Acquired hallux valgus
Acquired hallux valgus 		disease Musculoskeletal Diseases Acquired Abnormality 14 0.020 None 1.000 2 2018 2018
CUI: C0265656
Disease: Congenital hallux valgus
Congenital hallux valgus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 14 0.020 None 1.000 2 2018 2018
CUI: C0221248
Disease: Tophus
Tophus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality 14 3 0.010 None 1.000 1 2017 2017
CUI: C0012715
Disease: Iron Metabolism Disorders
Iron Metabolism Disorders 		group Nutritional and Metabolic Diseases Disease or Syndrome 15 3 0.010 None 1.000 1 2014 2014
CUI: C0037061
Disease: Siderosis
Siderosis 		disease Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome 23 2 0.010 None 1.000 1 2008 2008
CUI: C0241013
Disease: Increased serum ferritin
Increased serum ferritin 		phenotype Finding 23 1 0.100 None 0
CUI: C3854388
Disease: Hyperferritinaemia
Hyperferritinaemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 26 4 0.070 None 1.000 7 2 2002 2017
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 30 39 0.010 None 1.000 1 1 2018 2018
CUI: C0152031
Disease: Joint swelling
Joint swelling 		phenotype Pathological Conditions, Signs and Symptoms Finding 33 0.100 None 0
CUI: C0235574
Disease: Intravascular hemolysis
Intravascular hemolysis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 36 0.310 None 1.000 2 2014 2017
CUI: C0042344
Disease: Varicose Ulcer
Varicose Ulcer 		disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 38 2 0.010 None 1.000 1 2009 2009
CUI: C0302486
Disease: Erythrophagocytosis
Erythrophagocytosis 		disease Disease or Syndrome 40 0.010 None 1.000 1 2003 2003
CUI: C4024878
Disease: Generalized hyperpigmentation
Generalized hyperpigmentation 		phenotype Skin and Connective Tissue Diseases Finding 42 0.100 None 0