SLC7A9, solute carrier family 7 member 9, 11136

N. diseases: 48; N. variants: 39
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: C1857389
Disease: Cystinuria, Type B
Cystinuria, Type B
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 2 0.330 None 1.000 4 2004 2017
CUI: C3698119
Disease: Inherited aminoaciduria
Inherited aminoaciduria
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 2 0.010 None 1.000 1 2001 2001
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 0.100 None 1.000 10 1 1999 2010
CUI: C0024788
Disease: Marburg Virus Disease
Marburg Virus Disease
disease Infections; Animal Diseases Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C4021733
Disease: Hyperlysinuria
Hyperlysinuria
phenotype Finding 4 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 0.010 None 1.000 1 2001 2001
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 1.000 definitive 1.000 55 33 1999 2018
CUI: C0007930
Disease: Chagas Cardiomyopathy
Chagas Cardiomyopathy
disease Infections; Cardiovascular Diseases Disease or Syndrome 37 8 0.010 None 1.000 1 2006 2006
CUI: C0027707
Disease: Nephritis, Interstitial
Nephritis, Interstitial
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 79 5 0.300 limited 0
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 4 0.100 None 0
CUI: C0041349
Disease: Nephritis, Tubulointerstitial
Nephritis, Tubulointerstitial
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 92 6 0.300 limited 0
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 116 15 0.010 None 1.000 1 2008 2008
Creatinine measurement, serum (procedure)
phenotype Laboratory Procedure 124 243 0.100 None 1.000 4 2 2010 2018
CUI: C0497169
Disease: hiv-infection/aids
hiv-infection/aids
disease Infections Disease or Syndrome 124 4 0.010 None 1.000 1 2009 2009
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 190 71 0.020 None 1.000 2 2007 2010
CUI: C0023343
Disease: Leprosy
Leprosy
disease Infections Disease or Syndrome 190 120 0.020 None 1.000 2 2012 2014
CUI: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection
disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 237 21 0.100 None 0
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 242 99 0.120 None 1.000 2 2007 2010
CUI: C0018939
Disease: Hematological Disease
Hematological Disease
group Hemic and Lymphatic Diseases Disease or Syndrome 255 16 0.010 None 1.000 1 2019 2019
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
phenotype Laboratory Procedure 264 1463 0.100 None 1.000 1 1 2019 2019
CUI: C0027697
Disease: Nephritis
Nephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 296 40 0.010 None 1.000 1 2006 2006
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype Finding 319 0.100 None 0
CUI: C0031090
Disease: Periodontal Diseases
Periodontal Diseases
group Stomatognathic Diseases Disease or Syndrome 326 22 0.010 None 1.000 1 2018 2018