SLC25A13, solute carrier family 25 member 13, 10165

N. diseases: 109; N. variants: 23
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: C0268457
Disease: Aminoacidemia
Aminoacidemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2011 2011
CUI: C0270217
Disease: Perinatal jaundice due to inspissated bile syndrome
Perinatal jaundice due to inspissated bile syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 1 0.010 None 1.000 1 2014 2014
CUI: C1848861
Disease: Hyperthreoninemia
Hyperthreoninemia 		phenotype Finding 2 0.100 None 0
CUI: C4023102
Disease: Elevated plasma citrulline
Elevated plasma citrulline 		phenotype Finding 2 0.100 None 0
CUI: C0231255
Disease: Decreased body mass index
Decreased body mass index 		phenotype Pathological Conditions, Signs and Symptoms Finding 3 3 0.100 None 0
CUI: C2673558
Disease: Increased urinary glycerol
Increased urinary glycerol 		phenotype Finding 3 0.100 None 0
CUI: C4476869
Disease: Elevated gamma-glutamyltransferase activity
Elevated gamma-glutamyltransferase activity 		phenotype Finding 3 1 0.100 None 0
CUI: C4023071
Disease: Hypergalactosemia
Hypergalactosemia 		phenotype Finding 4 0.100 None 0
CUI: C1997910
Disease: Citrin deficiency
Citrin deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 5 10 0.200 None 1.000 40 10 1999 2020
CUI: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 5 85 0.010 None 1.000 1 2003 2003
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 5 0.100 None 0
CUI: C1859506
Disease: Acute hyperammonemia
Acute hyperammonemia 		phenotype Pathological Conditions, Signs and Symptoms Finding 5 1 0.100 None 0
CUI: C0949173
Disease: Delayed menarche
Delayed menarche 		disease Endocrine System Diseases Disease or Syndrome 6 1 0.100 None 0
CUI: C0175683
Disease: Citrullinemia
Citrullinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 7 2 0.080 None 1.000 8 2002 2014
CUI: C0149904
Disease: Cholestatic hepatitis
Cholestatic hepatitis 		disease Digestive System Diseases Disease or Syndrome 7 0.020 None 1.000 2 2008 2015
CUI: C0232766
Disease: Asterixis
Asterixis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 7 0.100 None 0
CUI: C4021982
Disease: Abnormal eating behavior
Abnormal eating behavior 		phenotype Mental or Behavioral Dysfunction 8 0.100 None 0
CUI: C4688318
Disease: Refractory Colorectal Carcinoma
Refractory Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 9 2 0.010 None 1.000 1 2016 2016
CUI: C1853942
Disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET
CITRULLINEMIA, TYPE II, NEONATAL-ONSET 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 10 13 0.800 None 1.000 28 13 2002 2020
CUI: C1851959
Disease: Fluctuations in consciousness
Fluctuations in consciousness 		phenotype Finding 10 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: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 14 15 0.700 None 0.983 58 15 1999 2020
CUI: C0235971
Disease: Elevated alpha-fetoprotein
Elevated alpha-fetoprotein 		phenotype Finding 14 1 0.100 None 0
CUI: C4048705
Disease: Hypermethioninemia
Hypermethioninemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 16 3 0.100 None 0
CUI: C0028081
Disease: Night sweats
Night sweats 		phenotype Sign or Symptom 17 0.100 None 0