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: C2676786
Disease: Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 1 3 0.700 None 1.000 3 3 2002 2014
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: C4310473
Disease: Hypercalcemia, infantile, 2
Hypercalcemia, infantile, 2 		disease Nutritional and Metabolic Diseases Disease or Syndrome 2 9 0.700 limited 1.000 2 9 2010 2016
CUI: C4310232
Disease: Hypercalcemia, Infantile, 1
Hypercalcemia, Infantile, 1 		disease Nutritional and Metabolic Diseases Disease or Syndrome 2 10 0.500 None 1.000 1 2016 2016
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: 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
CUI: C1853271
Disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 3 19 0.200 None 1.000 1 1998 1998
CUI: C0342749
Disease: GLYCOGEN STORAGE DISEASE Ic
GLYCOGEN STORAGE DISEASE Ic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 5 4 0.010 None 1.000 1 2005 2005
CUI: C4087411
Disease: Oncogenic hypophosphataemic osteomalacia
Oncogenic hypophosphataemic osteomalacia 		disease Disease or Syndrome 5 0.010 None 1.000 1 2001 2001
CUI: C0475732
Disease: Hypercalcemia, Infantile
Hypercalcemia, Infantile 		phenotype Nutritional and Metabolic Diseases Finding 5 0.300 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: C0403477
Disease: Medullary nephrocalcinosis
Medullary nephrocalcinosis 		disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 9 2 0.100 None 0
CUI: C0202178
Disease: Phosphorus measurement
Phosphorus measurement 		phenotype Laboratory Procedure 11 17 0.100 None 1.000 1 1 2018 2018
CUI: C0342642
Disease: Autosomal dominant hypophosphatemic rickets
Autosomal dominant hypophosphatemic rickets 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 11 4 0.010 None 1.000 1 2019 2019
CUI: C0523827
Disease: Inorganic phosphate measurement
Inorganic phosphate measurement 		phenotype Laboratory Procedure 11 17 0.100 None 1.000 1 1 2018 2018
CUI: C1847868
Disease: Generalized aminoaciduria
Generalized aminoaciduria 		phenotype Finding 11 0.100 None 0
CUI: C0026141
Disease: Milk-Alkali Syndrome
Milk-Alkali Syndrome 		disease Nutritional and Metabolic Diseases Disease or Syndrome 13 0.300 None 1.000 1 1998 1998
CUI: C0032827
Disease: Potassium Deficiency
Potassium Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 14 0.200 None 1.000 1 2004 2004
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: 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: 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: C0220983
Disease: Metabolic alkalosis
Metabolic alkalosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 27 5 0.010 None 1.000 1 2019 2019
CUI: C0001122
Disease: Acidosis
Acidosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 28 0.200 None 1.000 1 2009 2009