SLC46A1, solute carrier family 46 member 1, 113235

N. diseases: 97; N. variants: 20
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: C2749650
Disease: Folate malabsorption
Folate malabsorption 		phenotype Finding 1 0.300 None 1.000 1 2007 2007
CUI: C2749656
Disease: Folate-responsive megaloblastic anemia
Folate-responsive megaloblastic anemia 		phenotype Hemic and Lymphatic Diseases Finding 1 0.100 None 0
CUI: C0268609
Disease: Glutamate formiminotransferase deficiency
Glutamate formiminotransferase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 5 0.010 None 1.000 1 2012 2012
CUI: C2697786
Disease: Interleukin 5 Measurement
Interleukin 5 Measurement 		phenotype Laboratory Procedure 2 4 0.100 None 1.000 1 1 2017 2017
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 4 14 0.800 None 1.000 27 14 2001 2020
CUI: C0494041
Disease: Glanders and melioidosis
Glanders and melioidosis 		disease Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C0017675
Disease: Glossitis
Glossitis 		disease Stomatognathic Diseases Disease or Syndrome 7 0.100 None 0
CUI: C3495417
Disease: Hemifacial microsomia
Hemifacial microsomia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 8 5 0.100 None 1.000 13 5 2007 2019
CUI: C2751584
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		phenotype Nervous System Diseases Disease or Syndrome 8 5 0.020 None 1.000 2 2017 2017
CUI: C0007971
Disease: Cheilitis
Cheilitis 		disease Stomatognathic Diseases Disease or Syndrome 17 9 0.100 None 0
CUI: C1389280
Disease: Basal ganglia calcification
Basal ganglia calcification 		phenotype Pathologic Function 22 3 0.100 None 0
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 26 2 0.100 None 0
CUI: C0004158
Disease: Athetosis
Athetosis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 39 3 0.100 None 0
CUI: C0025229
Disease: Melioidosis
Melioidosis 		disease Infections Disease or Syndrome 65 9 0.040 None 1.000 4 2015 2019
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 70 8 0.030 None 1.000 3 2011 2015
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		phenotype Finding 75 5 0.100 None 0
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 83 62 0.010 None 1.000 1 2009 2009
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 93 45 0.010 None 1.000 1 2009 2009
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		phenotype Nutritional and Metabolic Diseases; Nervous System Diseases Finding 103 8 0.100 None 0
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		disease Stomatognathic Diseases Disease or Syndrome 104 101 0.100 None 0
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality 119 3 0.010 None 1.000 1 2009 2009
CUI: C0030232
Disease: Pallor
Pallor 		phenotype Pathological Conditions, Signs and Symptoms Finding 124 4 0.100 None 0
CUI: C0220810
Disease: Congenital defects
Congenital defects 		group Congenital Abnormality 126 6 0.020 None 1.000 2 2016 2018
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		phenotype Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases Finding 127 14 0.100 None 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		phenotype Finding 140 0.100 None 0