SLC4A4, solute carrier family 4 member 4, 8671

N. diseases: 58; N. variants: 11
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.
Bicarbonate-wasting renal tubular acidosis
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 1 0.100 None 0
Metabolic acidosis, NAG, acidifying salts
disease Nutritional and Metabolic Diseases Disease or Syndrome 2 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0
Increased red cell osmotic resistance
phenotype Finding 1 0.100 None 0
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 5 0.700 strong 1.000 7 5 1999 2008
CUI: C0268435
Disease: Renal Tubular Acidosis, Type II
Renal Tubular Acidosis, Type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 13 4 0.500 None 1.000 26 3 2000 2019
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 52 3 0.540 None 1.000 5 2000 2011
CUI: C4272578
Disease: Autosomal Recessive Osteopetrosis
Autosomal Recessive Osteopetrosis
disease Musculoskeletal Diseases Disease or Syndrome 24 3 0.010 None 1.000 1 2000 2000
CUI: C0002063
Disease: Alkalosis
Alkalosis
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 25 2 0.010 None 1.000 1 2000 2000
CUI: C0853954
Disease: Corneal calcification
Corneal calcification
phenotype Anatomical Abnormality 10 0.010 None 1.000 1 2000 2000
CUI: C1971021
Disease: Potassium depletion
Potassium depletion
disease Disease or Syndrome 6 0.010 None 1.000 1 2000 2000
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.440 None 1.000 5 2001 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.140 None 1.000 4 2001 2018
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder)
disease Eye Diseases Disease or Syndrome 166 37 0.030 None 1.000 3 2001 2014
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.020 None 1.000 2 2001 2004
CUI: C0857112
Disease: Bilateral glaucoma
Bilateral glaucoma
disease Eye Diseases Disease or Syndrome 3 0.010 None 1.000 1 2001 2001
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 60 41 0.200 None 1.000 1 2003 2003
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.010 None 1.000 1 2003 2003
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease Eye Diseases Disease or Syndrome 770 198 0.430 None 1.000 4 2004 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.210 None 1.000 2 2004 2015
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.010 None 1.000 1 2004 2004
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 484 34 0.010 None 1.000 1 2005 2005
CUI: C0155120
Disease: Corneal Dystrophy, Band-Shaped
Corneal Dystrophy, Band-Shaped
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 7 3 0.120 None 1.000 2 2006 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.010 None 1.000 1 2006 2006
CUI: C0524524
Disease: Pseudoaphakia
Pseudoaphakia
disease Eye Diseases Disease or Syndrome 28 0.300 None 1.000 1 2008 2008