SLC34A1, solute carrier family 34 member 1, 6569

N. diseases: 73; N. variants: 51
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: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 9 8 2013 2019
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		phenotype Laboratory Procedure 124 243 0.100 None 1.000 6 3 2010 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2003 2009
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2018 2018
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		phenotype Laboratory Procedure 138 216 0.100 None 1.000 1 1 2018 2018
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		phenotype Laboratory Procedure 17 44 0.100 None 1.000 1 4 2013 2013
CUI: C0202178
Disease: Phosphorus measurement
Phosphorus measurement 		phenotype Laboratory Procedure 11 17 0.100 None 1.000 1 1 2018 2018
CUI: C0523827
Disease: Inorganic phosphate measurement
Inorganic phosphate measurement 		phenotype Laboratory Procedure 11 17 0.100 None 1.000 1 1 2018 2018
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		phenotype Laboratory Procedure 55 427 0.100 None 1.000 1 8 2013 2013
CUI: C3150652
Disease: FANCONI RENOTUBULAR SYNDROME 2
FANCONI RENOTUBULAR SYNDROME 2 		disease Disease or Syndrome 1 0.300 limited 1.000 1 2010 2010
CUI: C4087411
Disease: Oncogenic hypophosphataemic osteomalacia
Oncogenic hypophosphataemic osteomalacia 		disease Disease or Syndrome 5 0.010 None 1.000 1 2001 2001
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		phenotype Finding 42 5 0.100 None 0
CUI: C1833667
Disease: Elevated alkaline phosphatase of bone origin
Elevated alkaline phosphatase of bone origin 		phenotype Finding 7 0.100 None 0
CUI: C1845169
Disease: Renal phosphate wasting
Renal phosphate wasting 		phenotype Finding 8 0.100 None 0
CUI: C1847868
Disease: Generalized aminoaciduria
Generalized aminoaciduria 		phenotype Finding 11 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C0341703
Disease: Adult Fanconi syndrome
Adult Fanconi syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 32 0.510 None 1.000 2 2010 2019
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 276 54 0.200 None 1.000 1 2000 2000
CUI: C4551503
Disease: FANCONI RENOTUBULAR SYNDROME 1
FANCONI RENOTUBULAR SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 2 0.300 None 1.000 1 2010 2010
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 26 4 0.300 None 0
CUI: C1857395
Disease: De Toni-Debre-Fanconi Syndrome
De Toni-Debre-Fanconi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 14 2 0.300 None 0
CUI: C3495427
Disease: Fanconi-Bickel Syndrome
Fanconi-Bickel Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 15 17 0.300 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0268080
Disease: Hypercalcemia, Idiopathic, of Infancy
Hypercalcemia, Idiopathic, of Infancy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.300 None 1.000 1 2016 2016