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: C1096903
Disease: Sialic Acid Storage Disease, Finnish Type (disorder)
Sialic Acid Storage Disease, Finnish Type (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 47 44 0.800 strong 1.000 31 42 1999 2019
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: 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: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 92 14 0.400 strong 1.000 1 1999 1999
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.310 None 1.000 2 2011 2017
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 577 441 0.310 None 1.000 2 1991 2019
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 8 0.210 None 1.000 1 2004 2004
CUI: C0003962
Disease: Ascites
Ascites 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 198 7 0.120 None 1.000 2 2018 2018
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.110 None 1.000 1 2017 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.110 None 1.000 1 2019 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2017 2017
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.100 None 0.957 23 1994 2020
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		disease Digestive System Diseases Disease or Syndrome 1058 222 0.100 None 1.000 22 1 2011 2019
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.100 None 0.905 21 2014 2020
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.100 None 0.950 20 2001 2019
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 1143 75 0.100 None 0.938 16 2006 2019
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.100 None 1.000 16 2007 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.100 None 1.000 12 2007 2019
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.100 None 0.818 11 1991 2019
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1182 189 0.100 None 0.909 11 1991 2019
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		disease Digestive System Diseases Disease or Syndrome 875 35 0.100 None 0.900 10 2006 2019
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.100 None 0.900 10 1991 2019
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 741 81 0.100 None 0.900 10 2007 2019
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		phenotype Laboratory Procedure 433 3282 0.100 None 1.000 1 2 2013 2013
CUI: C1858452
Disease: Thickened calvaria
Thickened calvaria 		phenotype Finding 27 0.100 None 0