SLC6A19, solute carrier family 6 member 19, 340024

N. diseases: 54; N. variants: 18
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: C3148959
Disease: IMINOGLYCINURIA, DIGENIC
IMINOGLYCINURIA, DIGENIC 		disease Finding 1 1 0.400 strong 1.000 1 1 2009 2009
CUI: C1856194
Disease: Neutral hyperaminoaciduria
Neutral hyperaminoaciduria 		phenotype Finding 1 0.100 None 0
CUI: C0268654
Disease: Iminoglycinuria
Iminoglycinuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 4 2 0.710 strong 1.000 2 1 2008 2009
CUI: C0085407
Disease: Microsporidiosis
Microsporidiosis 		disease Infections Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C0268534
Disease: Prolinuria
Prolinuria 		disease Disease or Syndrome 6 0.100 None 0
CUI: C0017675
Disease: Glossitis
Glossitis 		disease Stomatognathic Diseases Disease or Syndrome 7 0.100 None 0
CUI: C0948585
Disease: Hydroxyprolinuria
Hydroxyprolinuria 		phenotype Finding 8 0.100 None 0
CUI: C0522153
Disease: Urine Discoloration
Urine Discoloration 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 10 1 0.100 None 0
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 12 16 1.000 None 1.000 15 16 2004 2019
CUI: C0543541
Disease: HYPERGLYCINURIA (disorder)
HYPERGLYCINURIA (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 14 3 0.610 strong 1.000 2 2 2008 2009
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 0.010 None 1.000 1 2018 2018
CUI: C1833683
Disease: NEPHROLITHIASIS, CALCIUM OXALATE
NEPHROLITHIASIS, CALCIUM OXALATE 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 33 30 0.100 None 0
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 36 9 0.100 None 0
CUI: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation 		phenotype Skin and Connective Tissue Diseases Finding 55 2 0.100 None 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype Anatomical Abnormality 56 29 0.100 None 0
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 68 1 0.020 None 1.000 2 2007 2011
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		phenotype Finding 75 10 0.100 None 0
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 83 46 0.010 None 1.000 1 2018 2018
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		phenotype Skin and Connective Tissue Diseases Pathologic Function 91 3 0.100 None 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		phenotype Skin and Connective Tissue Diseases Finding 123 2 0.100 None 0
CUI: C0017574
Disease: Gingivitis
Gingivitis 		disease Infections; Stomatognathic Diseases Disease or Syndrome 152 3 0.100 None 0
CUI: C0085633
Disease: Mood swings
Mood swings 		disease Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 171 1 0.100 None 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		phenotype Finding 175 0.100 None 0
CUI: C3714745
Disease: Malabsorption
Malabsorption 		phenotype Digestive System Diseases Finding 175 3 0.100 None 0
CUI: C0018524
Disease: Hallucinations
Hallucinations 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 178 18 0.100 None 0