SLC7A7, solute carrier family 7 member 7, 9056

N. diseases: 122; N. variants: 53
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: C0598675
Disease: inborn aminoaciduria
inborn aminoaciduria 		disease Disease or Syndrome 1 0.010 None 1.000 1 2015 2015
CUI: C0856208
Disease: Increased serum zinc
Increased serum zinc 		phenotype Finding 1 0.100 None 0
CUI: C4023102
Disease: Elevated plasma citrulline
Elevated plasma citrulline 		phenotype Finding 2 0.100 None 0
CUI: C4025602
Disease: Ornithinuria
Ornithinuria 		phenotype Finding 3 0.100 None 0
CUI: C4025635
Disease: Argininuria
Argininuria 		phenotype Finding 3 0.100 None 0
CUI: C0268643
Disease: Cystinuria type 1
Cystinuria type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 4 7 0.010 None 1.000 1 2000 2000
CUI: C0267839
Disease: Hepatic amyloidosis
Hepatic amyloidosis 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 4 0.100 None 0
CUI: C0268528
Disease: Hyperprolinemia
Hyperprolinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 3 0.100 None 0
CUI: C4021733
Disease: Hyperlysinuria
Hyperlysinuria 		phenotype Finding 4 0.100 None 0
CUI: C0151701
Disease: Pulmonary hemorrhage
Pulmonary hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Hemic and Lymphatic Diseases Pathologic Function 5 0.100 None 0
CUI: C0475713
Disease: Perinatal pulmonary hemorrhage
Perinatal pulmonary hemorrhage 		phenotype Pathologic Function 5 0.100 None 0
CUI: C1839533
Disease: Hyperglutaminemia
Hyperglutaminemia 		phenotype Finding 5 0.100 None 0
CUI: C0017614
Disease: Glaucoma, Suspect
Glaucoma, Suspect 		disease Eye Diseases Disease or Syndrome 6 0.010 None 1.000 1 2018 2018
CUI: C0268128
Disease: Orotic aciduria
Orotic aciduria 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Finding 6 2 0.100 None 0
CUI: C3665983
Disease: Oral aversion
Oral aversion 		disease Mental or Behavioral Dysfunction 7 4 0.100 None 0
CUI: C0149696
Disease: Food intolerance (disorder)
Food intolerance (disorder) 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 8 1 0.010 None 1.000 1 2020 2020
CUI: C0853068
Disease: Decreased glomerular filtration rate
Decreased glomerular filtration rate 		phenotype Finding 11 0.100 None 0
CUI: C0151691
Disease: Decreased HDL cholesterol concentration
Decreased HDL cholesterol concentration 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Finding 12 2 0.100 None 0
CUI: C0750905
Disease: Amino Acid Metabolism, Inherited Disorders
Amino Acid Metabolism, Inherited Disorders 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 13 0.300 None 1.000 1 2001 2001
CUI: C0678909
Disease: Brain Waves
Brain Waves 		phenotype Organ or Tissue Function 14 24 0.100 None 1.000 1 1 2019 2019
CUI: C0268559
Disease: Hyperglycinemia
Hyperglycinemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 14 0.100 None 0
CUI: C0002514
Disease: Amino Acid Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 0.300 None 1.000 1 2001 2001
CUI: C0268382
Disease: Amyloid nephropathy
Amyloid nephropathy 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 20 7 0.100 None 0
CUI: C0268647
Disease: Lysinuric Protein Intolerance
Lysinuric Protein Intolerance 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 21 47 0.800 strong 1.000 37 47 1980 2020
CUI: C0010691
Disease: Cystinuria
Cystinuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 22 83 0.020 None 1.000 2 2001 2005