SLC8A1, solute carrier family 8 member A1, 6546

N. diseases: 146; N. variants: 24
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: C0340278
Disease: Atrial hypertrophy
Atrial hypertrophy
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
CUI: C0025160
Disease: Megacolon
Megacolon
phenotype Digestive System Diseases Pathologic Function 9 9 0.300 None 1.000 2 2004 2007
CUI: C0271514
Disease: Low frequency deafness
Low frequency deafness
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 15 1 0.010 None 1.000 1 2019 2019
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 20 35 0.010 None 1.000 1 2019 2019
CUI: C0002063
Disease: Alkalosis
Alkalosis
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 25 2 0.010 None 1.000 1 2002 2002
CUI: C0694539
Disease: Chronic atrial fibrillation
Chronic atrial fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 31 0.010 None 1.000 1 2012 2012
CUI: C0152105
Disease: Hypertensive heart disease
Hypertensive heart disease
disease Cardiovascular Diseases Disease or Syndrome 32 0.010 None 1.000 1 2014 2014
CUI: C0085106
Disease: Familial benign pemphigus
Familial benign pemphigus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 36 12 0.010 None 1.000 1 2014 2014
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
Sinus Node Dysfunction (disorder)
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 40 7 0.010 None 1.000 1 2017 2017
CUI: C0152451
Disease: Chronic glomerulonephritis
Chronic glomerulonephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 41 7 0.010 None 1.000 1 2019 2019
Adverse Event Associated with Cardiac Arrhythmia
phenotype Disease or Syndrome 42 5 0.010 None 1.000 1 2011 2011
CUI: C0001849
Disease: AIDS Dementia Complex
AIDS Dementia Complex
disease Infections; Immune System Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 45 4 0.100 None 1.000 1 1 2012 2012
CUI: C0853105
Disease: Penis carcinoma
Penis carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 49 3 0.010 None 1.000 1 2015 2015
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval
phenotype Finding 57 138 0.100 None 1.000 4 3 2014 2019
CUI: C0027662
Disease: Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 65 11 0.010 None 1.000 1 1992 1992
CUI: C0393734
Disease: Complex Partial Status Epilepticus
Complex Partial Status Epilepticus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 68 0.300 None 1.000 1 2010 2010
CUI: C0751524
Disease: Simple Partial Status Epilepticus
Simple Partial Status Epilepticus
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 68 0.300 None 1.000 1 2010 2010
CUI: C0025281
Disease: Meniere Disease
Meniere Disease
disease Otorhinolaryngologic Diseases Disease or Syndrome 69 36 0.010 None 1.000 1 1 2019 2019
CUI: C0751522
Disease: Status Epilepticus, Subclinical
Status Epilepticus, Subclinical
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 69 0.300 None 1.000 1 2010 2010
CUI: C0751523
Disease: Non-Convulsive Status Epilepticus
Non-Convulsive Status Epilepticus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 71 0.300 None 1.000 1 2010 2010
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 72 11 0.010 None 1.000 1 2018 2018
QT interval feature (observable entity)
phenotype Clinical Attribute 75 226 0.100 None 1.000 4 4 2012 2019
CUI: C0311335
Disease: Grand Mal Status Epilepticus
Grand Mal Status Epilepticus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 75 0.300 None 1.000 1 2010 2010
CUI: C1868938
Disease: End stage cardiac failure
End stage cardiac failure
disease Disease or Syndrome 76 2 0.010 None 1.000 1 2013 2013
CUI: C0270823
Disease: Petit mal status
Petit mal status
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 78 0.300 None 1.000 1 2010 2010