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.
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: 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: C0085682
Disease: Hypophosphatemia
Hypophosphatemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 69 5 0.680 None 1.000 10 1996 2019
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: 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: C0020437
Disease: Hypercalcemia
Hypercalcemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 157 9 0.450 None 1.000 6 1998 2019
CUI: C0020438
Disease: Hypercalciuria
Hypercalciuria
phenotype Pathological Conditions, Signs and Symptoms Finding 60 5 0.400 None 1.000 1 1998 1998
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 827 425 0.300 None 1.000 5 2 2004 2019
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: 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: 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: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental
group Musculoskeletal Diseases Disease or Syndrome 82 2 0.300 None 1.000 1 1998 1998
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: 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: 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: 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: C0475732
Disease: Hypercalcemia, Infantile
Hypercalcemia, Infantile
phenotype Nutritional and Metabolic Diseases Finding 5 0.300 None 0
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: C0035126
Disease: Reperfusion Injury
Reperfusion Injury
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Injury or Poisoning 300 0.200 None 1.000 1 2005 2005
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: C0001122
Disease: Acidosis
Acidosis
phenotype Nutritional and Metabolic Diseases Pathologic Function 28 0.200 None 1.000 1 2009 2009
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: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 613 283 0.200 None 1.000 1 2007 2007
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
disease Endocrine System Diseases Disease or Syndrome 279 27 0.200 None 1.000 1 1999 1999
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 666 194 0.200 None 1.000 1 2004 2004