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: 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: C0395941
Disease: Mondini defect
Mondini defect 		disease Congenital Abnormality 1 0.300 strong 1.000 1 2002 2002
CUI: C1864276
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 17 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 17 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 0.010 None 1.000 1 1998 1998
CUI: C0013570
Disease: Ecthyma, Contagious
Ecthyma, Contagious 		disease Infections; Animal Diseases Disease or Syndrome 2 0.010 None 1.000 1 2008 2008
CUI: C0395942
Disease: Dilatation of the vestibular aqueduct
Dilatation of the vestibular aqueduct 		disease Musculoskeletal Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 2 0.010 None 1.000 1 2007 2007
CUI: C4023392
Disease: Incomplete partition of the cochlea
Incomplete partition of the cochlea 		disease Anatomical Abnormality 2 0.010 None 1.000 1 2005 2005
CUI: C0152077
Disease: Dyshormonogenic goiter
Dyshormonogenic goiter 		disease Endocrine System Diseases Disease or Syndrome 3 0.030 None 1.000 3 2002 2018
CUI: C0521785
Disease: Hearing Loss, Unilateral
Hearing Loss, Unilateral 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2008 2008
CUI: C0018775
Disease: Hearing Loss, Bilateral
Hearing Loss, Bilateral 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 1 0.020 None 1.000 2 2013 2019
CUI: C3826233
Disease: Hearing impaired children
Hearing impaired children 		disease Disease or Syndrome 4 0.020 None 1.000 2 2012 2013
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: C0395973
Disease: Recessive sensorineural hearing loss
Recessive sensorineural hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 2019 2019
CUI: C0546969
Disease: Preauricular Fistulae, Congenital
Preauricular Fistulae, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 4 0.010 None 1.000 1 2001 2001
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: 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: 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: C1862050
Disease: Cochlear malformation
Cochlear malformation 		phenotype Finding 5 0.100 None 0
CUI: C0311237
Disease: Goniodysgenesis
Goniodysgenesis 		disease Congenital Abnormality 6 3 0.010 None 1.000 1 2001 2001
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: C0342162
Disease: Compensated hypothyroidism
Compensated hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 7 1 0.100 None 0
CUI: C2676974
Disease: Hypoplasia of the cochlea
Hypoplasia of the cochlea 		phenotype Finding 7 0.100 None 0
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: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 10 81 0.730 strong 1.000 88 78 1998 2019
CUI: C0038478
Disease: Struma Ovarii
Struma Ovarii 		disease Neoplasms Neoplastic Process 10 1 0.010 None 1.000 1 2005 2005
CUI: C0206586
Disease: Endolymphatic Hydrops
Endolymphatic Hydrops 		disease Otorhinolaryngologic Diseases Disease or Syndrome 11 1 0.010 None 1.000 1 2015 2015