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: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.100 None 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 2
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 18 61 0.100 None 0 14
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 14 6 0.410 None 1.000 1 1 2014 2014
CUI: C0749420
Disease: Thyroid Agenesis
Thyroid Agenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 11 3 0.400 None 1.000 1 2014 2014
CUI: C1863752
Disease: Enlarged Vestibular Aqueduct
Enlarged Vestibular Aqueduct 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 4 0.400 strong 1.000 1 2002 2002
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.300 None 1.000 1 2007 2007
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.300 None 1.000 1 2007 2007
CUI: C0395941
Disease: Mondini defect
Mondini defect 		disease Congenital Abnormality 1 0.300 strong 1.000 1 2002 2002
CUI: C0001122
Disease: Acidosis
Acidosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 28 0.200 None 1.000 1 2003 2003
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 117 30 0.110 None 1.000 1 2 2015 2015
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 0.110 None 1.000 1 2009 2009
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		phenotype Laboratory Procedure 42 79 0.100 None 1.000 1 1 2018 2018
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: 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: C0349453
Disease: Mass of thyroid gland
Mass of thyroid gland 		disease Endocrine System Diseases Neoplastic Process 4 0.010 None 1.000 1 2004 2004
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: C0311237
Disease: Goniodysgenesis
Goniodysgenesis 		disease Congenital Abnormality 6 3 0.010 None 1.000 1 2001 2001
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: 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: C0221777
Disease: Nontoxic goiter
Nontoxic goiter 		disease Endocrine System Diseases Disease or Syndrome 13 0.010 None 1.000 1 2003 2003
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: 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