SLC17A5, solute carrier family 17 member 5, 26503

N. diseases: 252; N. variants: 47
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: C1963905
Disease: Infantile free sialic acid storage disease
Infantile free sialic acid storage disease 		disease Disease or Syndrome 1 0.030 None 1.000 3 2004 2018
CUI: C2931872
Disease: Free sialic acid storage disease
Free sialic acid storage disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 2 0.030 None 1.000 3 2 2004 2019
CUI: C0349711
Disease: Sialic storage disease
Sialic storage disease 		disease Disease or Syndrome 1 0.010 None 1.000 1 2005 2005
CUI: C2880120
Disease: Echovirus enteritis
Echovirus enteritis 		disease Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C1096902
Disease: Infantile Sialic Acid Storage Disease
Infantile Sialic Acid Storage Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 6 0.790 strong 1.000 12 6 1999 2018
CUI: C2938957
Disease: Tumour rupture
Tumour rupture 		disease Disease or Syndrome 4 0.010 None < 0.001 1 2019 2019
CUI: C0239182
Disease: Watery diarrhoea
Watery diarrhoea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 5 1 0.010 None 1.000 1 2000 2000
CUI: C0342753
Disease: Glycogen storage disease due to acid maltase deficiency, late-onset
Glycogen storage disease due to acid maltase deficiency, late-onset 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2017 2017
CUI: C2129214
Disease: Loose stool
Loose stool 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nervous System Diseases Sign or Symptom 8 0.010 None 1.000 1 2000 2000
CUI: C1836855
Disease: Vacuolated lymphocytes
Vacuolated lymphocytes 		phenotype Finding 8 0.100 None 0
CUI: C4317149
Disease: Vacuolated Lymphocyte Count
Vacuolated Lymphocyte Count 		phenotype Laboratory Procedure 8 0.100 None 0
CUI: C1845052
Disease: AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1
AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 10 4 0.010 None 1.000 1 2017 2017
CUI: C1848200
Disease: SUBCORTICAL BAND HETEROTOPIA, X-LINKED
SUBCORTICAL BAND HETEROTOPIA, X-LINKED 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 10 0.010 None 1.000 1 2018 2018
CUI: C1854718
Disease: J-shaped sella turcica
J-shaped sella turcica 		phenotype Finding 10 1 0.100 None 0
CUI: C0342853
Disease: Sialuria
Sialuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 11 17 0.600 None 1.000 13 3 1999 2019
CUI: C0400979
Disease: Obstruction of biliary tree
Obstruction of biliary tree 		disease Digestive System Diseases Disease or Syndrome 12 0.010 None 1.000 1 2019 2019
CUI: C0239801
Disease: Blonde hair
Blonde hair 		phenotype Finding 13 0.100 None 0
CUI: C4523989
Disease: Occult hepatitis B
Occult hepatitis B 		disease Disease or Syndrome 14 0.010 None 1.000 1 2004 2004
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 15 114 0.010 None 1.000 1 2020 2020
CUI: C1849221
Disease: Fair hair
Fair hair 		phenotype Finding 17 5 0.100 None 0
CUI: C3541517
Disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		disease Disease or Syndrome 18 10 0.010 None 1.000 1 2015 2015
CUI: C3888065
Disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT 		disease Disease or Syndrome 18 11 0.010 None 1.000 1 2015 2015
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		disease Eye Diseases Disease or Syndrome 20 1 0.010 None 1.000 1 2018 2018
CUI: C0023092
Disease: Lassa Fever
Lassa Fever 		disease Infections Disease or Syndrome 22 0.010 None 1.000 1 2018 2018
CUI: C1112209
Disease: Abdominal Infection
Abdominal Infection 		group Infections Disease or Syndrome 23 1 0.010 None 1.000 1 2019 2019