SLC26A4, solute carrier family 26 member 4, 5172

N. diseases: 194; N. variants: 174
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: C0035335
Disease: Retinoblastoma
Retinoblastoma 		disease Neoplasms; Eye Diseases Neoplastic Process 853 193 0.010 None 1.000 1 2018 2018
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 330 71 0.010 None < 0.001 1 2003 2003
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1348 204 0.010 None 1.000 1 2015 2015
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
Achondrogenesis, type IB (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 5 34 0.010 None 1.000 1 2005 2005
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 2016 2016
CUI: C0271787
Disease: Adult myxedema
Adult myxedema 		disease Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C0271826
Disease: Iodide transport defect
Iodide transport defect 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 5 2 0.010 None 1.000 1 2014 2014
CUI: C0276447
Disease: Rhinovirus infection
Rhinovirus infection 		disease Infections Disease or Syndrome 202 4 0.010 None 1.000 1 2008 2008
CUI: C0278704
Disease: Malignant Childhood Neoplasm
Malignant Childhood Neoplasm 		disease Neoplasms Neoplastic Process 179 34 0.010 None 1.000 1 2006 2006
CUI: C0302859
Disease: Euthyroid Goiter
Euthyroid Goiter 		disease Endocrine System Diseases Disease or Syndrome 7 1 0.010 None 1.000 1 2003 2003
CUI: C0311237
Disease: Goniodysgenesis
Goniodysgenesis 		disease Congenital Abnormality 6 3 0.010 None 1.000 1 2001 2001
CUI: C0342191
Disease: Familial dyshormonogenetic goiter
Familial dyshormonogenetic goiter 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 11 5 0.010 None 1.000 1 2018 2018
CUI: C0342199
Disease: Iodine deficiency syndrome
Iodine deficiency syndrome 		disease Endocrine System Diseases Disease or Syndrome 22 4 0.010 None 1.000 1 2009 2009
CUI: C0342488
Disease: Mineralocorticoid Excess Syndrome, Apparent
Mineralocorticoid Excess Syndrome, Apparent 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 2019 2019
CUI: C0346255
Disease: Oncocytoma, renal
Oncocytoma, renal 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 34 0.010 None < 0.001 1 2019 2019
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 40 71 0.010 None 1.000 1 2018 2018
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.010 None 1.000 1 2000 2000
CUI: C0232493
Disease: Epigastric pain
Epigastric pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 17 1 0.010 None 1.000 1 2017 2017
CUI: C0038478
Disease: Struma Ovarii
Struma Ovarii 		disease Neoplasms Neoplastic Process 10 1 0.010 None 1.000 1 2005 2005
CUI: C0038506
Disease: Stuttering
Stuttering 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 34 8 0.010 None 1.000 1 2019 2019
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 150 17 0.010 None 1.000 1 2013 2013
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		disease Endocrine System Diseases Disease or Syndrome 37 7 0.010 None 1.000 1 2005 2005
CUI: C0043167
Disease: Pertussis
Pertussis 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 19 0.010 None 1.000 1 2014 2014
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 36 16 0.010 None 1.000 1 2019 2019
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 403 67 0.010 None 1.000 1 2017 2017