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
Increased red cell osmotic resistance
phenotype Finding 1 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0
CUI: C1510497
Disease: Lens Opacities
Lens Opacities
phenotype Eye Diseases Finding 24 0.300 None 1.000 1 2008 2008
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.300 None 1.000 1 2016 2016
CUI: C0085996
Disease: Child Development Deviations
Child Development Deviations
disease Mental Disorders Mental or Behavioral Dysfunction 29 0.300 None 1.000 1 2008 2008
Child Development Disorders, Specific
disease Mental Disorders Mental or Behavioral Dysfunction 30 0.300 None 1.000 1 2008 2008
CUI: C0524524
Disease: Pseudoaphakia
Pseudoaphakia
disease Eye Diseases Disease or Syndrome 28 0.300 None 1.000 1 2008 2008
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 23 18 0.300 None 1.000 1 2008 2008
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 1 2014 2014
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype Eye Diseases Finding 113 5 0.300 None 1.000 1 2008 2008
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
group Mental Disorders Mental or Behavioral Dysfunction 355 19 0.300 None 1.000 1 2008 2008
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
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C0264408
Disease: Childhood asthma
Childhood asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 303 317 0.100 None 1.000 1 1 2013 2013
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2018 2018
CUI: C0038663
Disease: Suicide attempt
Suicide attempt
phenotype Behavior and Behavior Mechanisms Injury or Poisoning 31 91 0.100 None 1.000 1 1 2010 2010
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine
disease Nervous System Diseases Disease or Syndrome 24 17 0.010 None < 0.001 1 2010 2010
CUI: C0456909
Disease: Blindness
Blindness
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.010 None 1.000 1 2018 2018
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.010 None 1.000 1 2019 2019
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: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None 1.000 1 2015 2015
CUI: C0853954
Disease: Corneal calcification
Corneal calcification
phenotype Anatomical Abnormality 10 0.010 None 1.000 1 2000 2000
CUI: C0856742
Disease: Post MI
Post MI
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 203 4 0.010 None 1.000 1 2020 2020