1. Gene
  2. SLC26A4 - solute carrier family 26 member 4 Gene

SLC26A4 - solute carrier family 26 member 4 Gene

Homo sapiens

Also known as EVA; PDS; DFNB4; TDH2B

Gene ID: 5172 | Gene type: protein coding

About SLC26A4

Cytogenetic location: 7q22.3 Genomic coordinates (GRCh38): 7:107,660,828-107,717,809 (from NCBI)

This gene has 8 transcripts (splice variants), 176 orthologues, 9 paralogues and is associated with 6 phenotypes. Restricted expression toward thyroid (RPKM 117.6).

Summary

Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008]

SLC26A4 Products(1)

mRNA Protein Name
NM_000441.2 NP_000432.1 pendrin

SLC26A4 Protein Structure

(69 - 152)

Sulfate_transp

Sulfate_transp: Sulfate permease family (203 - 481)

STAS

STAS: STAS domain (536 - 725)

  • 0
  • 200
  • 400
  • 600
  • 780 a.a.
Protein Preferred Names Protein Names

pendrin

sodium-independent chloride/iodide transporter

Related Diseases

Diseases Alias
Pendred Syndrome

Goiter-Deafness Syndrome

Deafness With Goiter

PDS

Thyroid Dyshormonogenesis 2b

Tdh2b

Autosomal Recessive Sensorineural Hearing Impairment And Goiter

Pendred'S Syndrome

Thyroid Hormonogenesis, Genetic Defect In, 2b

Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b

Congenital Hypothyroidism Due To Dyshormonogenesis 2b

Genetic Defect In Thyroid Hormonogenesis 2b

Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter

Goiter-Hearing Loss Syndrome

Goitre-Deafness Syndrome

Goitre Deafness

Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct

Enlarged Vestibular Aqueduct

DFNB4

Neurosensory Nonsyndromic Recessive Deafness 4

Enlarged Vestibular Aqueduct Syndrome

Nsrd4

Autosomal Recessive Nonsyndromic Deafness 4

Dilated Vestibular Aqueduct

Dva

Enlarged Vestibular Aqueduct, Digenic

Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct

Large Vestibular Aqueduct Syndrome

Deafness, Autosomal Recessive, 4

Deafness Neurosensory Autosomal Recessive 4

Eva

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4

Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct

Ear Malformation

Cup Ear

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Deafness, Autosomal Recessive
Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

Athyreosis
Hypothyroidism, Congenital, Nongoitrous, 2

Thyroid Dysgenesis

CHNG2

Thyroid Hypoplasia

Thyroid Hemiagenesis

Thyroid Agenesis

Athyreotic Hypothyroidism

Rtsh

Thyrotropin Resistance

Hypothyroidism, Congenital, Due To Thyroid Dysgenesis Or Hypoplasia

Congenital Nongoitrous Hypothyroidism 2

Thyroid, Ectopic

Hypothyroidism, Congenital, Due To Thyroid Dysgenesis

Hypothyroidism, Athyreotic

Thyrotropin

Resistance To Thyrotropin

Congenital Hypothyroidism Due To Thyroid Dysgenesis Or Hypoplasia

Hypothyroidism, Congenital, Non-Goitrous, 2

Congenital Hypothyroidism Due To Thyroid Dysgenesis

Thyroid-Stimulating Hormone Resistance

Thyroid Ectopic

Ectopic Thyroid

Hypothyroidism, Congenital, Nongoitrous, 3

Thyroid Hormone Resistance Syndrome

Hypothyroidism, Congenital, Nongoitrous, 1

Rare Genetic Deafness

Rare Genetic Hearing Loss

Goiter

Goitre

Hypothyroidism

Thyroid Diseases

Thyroid Disease

Thyroid Deficiency

Thyroid Insufficiency

Dysfunction Thyroid

Thyroid Dysfunction

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Inner Ear Disease

Labyrinthine Dysfunction

Diseases Of Inner Ear

Labyrinthine Disease

Abnormality Of The Inner Ear

Labyrinth Diseases

Labyrinthine Disorder

Nonfunctioning Labyrinth

Labyrinthine Loss Of Function

Labyrinthine Syndrome

Labyrinthine Disorder Nos

Multinodular Goiter
Vestibular Disease

Vestibular Diseases

Vertigo, Vestibular Disorder

Vestibular Disorder

Diseases Of Inner Ear

Diastrophic Dysplasia

Diastrophic Dwarfism

DTD

Dd

Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant

Dysplasia, Diastrophic

Diastrophic Dysplasia Variant

Wolff-Parkinson-White Syndrome

Wolff-Parkinson-White Pattern

Wpw Syndrome

Anomalous Atrioventricular Excitation

Anomalous A-V Excitation

Ventricular Pre-Excitation With Arrhythmia

WPWS

Ventricular Familial Preexcitation Syndrome

Preexcitation Syndrome

Ventricular Preexcitation

Wpw - [Wolff-Parkinson- White] Syndrome

Pre-Excitation Syndrome

Cochlear Disease

Cochlear Diseases

Hashimoto Thyroiditis

Autoimmune Thyroiditis

Hashimoto Struma

Hashimoto'S Thyroiditis

Chronic Lymphocytic Thyroiditis

Lymphocytic Thyroiditis

Hashimoto Disease

Ht

Hashimoto'S Disease

Hashimoto'S Syndrome

Hypothyroidism, Autoimmune

Autoimmune Chronic Lymphocytic Thyroiditis

Chronic Lymphocytic Thyroiditides

Hashimoto Syndrome

Hashimotos Thyroiditis

Hashimoto Thyroiditis, Susceptibility To

Thyroiditis, Autoimmune

Lymphomatous Thyroiditis

Lymphoid Thyroiditis

Chronic Lymphadenoid Thyroiditis

Autoimmune Lymphocytic Chronic Thyroiditis

Goitre Lymphomatosa

Hashitoxicosis

Hashimoto Hypothyroidism

Lymphadenoid Goitre

Struma Lymphomatosa

Hyperthyroidism With Hashimoto Disease

Hashimoto Thyrotoxicosis

Thyrotoxicosis Due To Hashimoto Thyroiditis

Struma Lymphomatosis

Lymphadenoid Struma

Auditory System Disease

Ear Diseases

Ear And Mastoid Disease

Toxic Labyrinthitis
Dyshormonogenic Goiter

Dyshormonogenic Goitre

Peripheral Vertigo

Vertigo, Peripheral

Congenital Hypothyroidism

Cretinism

Neonatal Hypothyroidism

Ch

Cht

Congenital Myxedema

Myxedema, Congenital

Endemic Cretinism

Congenital Iodine-Deficiency Syndrome

Fetal Iodine Deficiency Syndrome

Congenital Iodine-Deficiency Hypothyroidism Nos

Superior Semicircular Canal Dehiscence

Superior Canal Dehiscence Syndrome

Superior Semicircular Canal Dehiscence Syndrome

Canal Dehiscence Syndrome

Superior Canal Dehiscence

Superior Canal Syndrome

Third Mobile Window Syndrome

Scds

Anemia, Sickle Cell

Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate

Bamforth-Lazarus Syndrome

Bamforth Syndrome

Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate

Hypothyroidism Cleft Palate Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate

Athyroidal Hypothyroidism-Spiky Hair-Cleft Palate Syndrome

Hypothyroidism-Cleft Palate Syndrome

BLS

Athyroidal Hypothyroidism With Spiky Hair And Cleft Palate

Follicular Adenoma

Follicular Adenoma Of The Thyroid Gland

Thyroid Follicular Adenoma

Adenoma Follicular

Follicular Thyroid Adenoma

Thyroid Gland Follicular Adenoma

Autosomal Recessive Nonsyndromic Deafness 3

Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3

Dfnb3

Nrsd3

Deafness, Autosomal Recessive 3

Deafness, Autosomal Recessive 77

DFNB77

Autosomal Recessive Nonsyndromic Deafness 77

Autosomal Recessive Deafness 77

Deafness, Autosomal Recessive, 77

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 77

Deafness, Autosomal Recessive, Type 77

Hypokalemia

Potassium Deficiency

Potassium Deficiency Disorder

Hypopotassemia

Potassium

Potassium [K] Deficiency

Hypokalaemic Syndrome

Hypopotassaemia

Hypopotassaemia Syndrome

Hypokalaemic

Potassium Depletion

Deafness, Autosomal Recessive 1a

DFNB1A

Deafness, Digenic, Gjb2/Gjb3

Autosomal Recessive Nonsyndromic Deafness 1a

Deafness, Digenic, Gjb2/Gjb6

Deafness, Digenic Gjb2/Gjb6

Autosomal Recessive Deafness 1a

Deafness, Autosomal Recessive, 1a

Deafness Digenic Gjb2/Gjb3

Deafness Digenic Gjb2/Gjb6

Deafness Neurosensory Autosomal Recessive 1

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1

Nsrd1

Deafness, Autosomal Recessive, Type 1a

Deafness, Autosomal Recessive 9

Auditory Neuropathy, Autosomal Recessive, 1

Neurosensory Nonsyndromic Recessive Deafness 9

DFNB9

Nsrd9

Autosomal Recessive Nonsyndromic Deafness 9

Autosomal Recessive Deafness 9

Nrsd9

AUNB1

Nonsyndromic Auditory Neuropathy Autosomal Recessive

Nsran

Deafness, Autosomal Recessive, 9

Deafness Neurosensory Autosomal Recessive 9

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 9

Non-Syndromic Recessive Hearing Loss 9

Deafness, Autosomal Recessive, Type 9

Auditory Neuropathy, Nonsyndromic Recessive

Diarrhea 1, Secretory Chloride, Congenital

DIAR1

Chloride Diarrhea, Congenital, Finnish Type

Congenital Secretory Chloride Diarrhea 1

Congenital Chloride Diarrhea Finnish Type

Congenital Chloride Diarrhea

Chloridorrhea, Congenital

Congenital Chloride Diarrhoea Finnish Type

Congenital Chloridorrhea

Congenital Secretory Chloride Diarrhoea 1

Chloridorrhea Congenital

Cld

Diarrhea 1 Secretory Chloride Congenital

Diarrhea, Type 1, Chloride, Secretory, Congenital

Labyrinthitis

Labyrinthine Disorder

Inner Ear Inflammation

Otitis Interna

Labyrinth Hyperaemia

Renal Tubular Acidosis

Acidosis Renal Tubular

Acidosis, Renal Tubular

Lightwood-Albright Syndrome

Lightwood Syndrome

Idiopathic Infantile Hypercalcemia - Mild Form

Kidney Tubular Acidosis

Renal Tubule Acidosis

Kidney Acidosis

Renal Acidosis

Renal Hyperchloremic Acidosis

Rta - [Renal Tubular Acidosis]

Deafness, Autosomal Recessive 16

DFNB16

Autosomal Recessive Nonsyndromic Deafness 16

Autosomal Recessive Deafness 16

Deafness, Autosomal Recessive, 16

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 16

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 16

Deafness, Autosomal Recessive, Type 16

Deafness, Autosomal Dominant 56

DFNA56

Autosomal Dominant Nonsyndromic Deafness 56

Autosomal Dominant Deafness 56

Deafness, Autosomal Dominant, 56

Deafness, Autosomal Dominant, Type 56

Thyroid Gland Anaplastic Carcinoma

Anaplastic Thyroid Carcinoma

Anaplastic Thyroid Cancer

Thyroid Cancer, Anaplastic

Thyroid Carcinoma, Anaplastic

Thyroid Carcinoma Anaplastic

X-Linked Nonsyndromic Deafness

X-Linked Deafness

Deafness, X-Linked

Drug-Induced Hearing Loss

Drug Induced Hearing Loss

Deafness, Autosomal Dominant 2b

DFNA2B

Autosomal Dominant Nonsyndromic Deafness 2b

Autosomal Dominant Deafness 2b

Deafness, Autosomal Dominant, 2b

Deafness, Autosomal Dominant, Type 2b

Deafness, X-Linked 2

Progressive Deafness With Stapes Fixation

DFNX2

Dfn3

Nance Deafness

Perilymphatic Gusher-Deafness Syndrome

Stapedo-Vestibular Ankylosis

Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear

X-Linked Deafness 2

X-Linked Mixed Conductive And Neurosensory Deafness

X-Linked Mixed Conductive And Sensorineural Deafness

Deafness 3 Conductive With Stapes Fixation

Deafness Conductive With Stapes Fixation

Deafness Mixed With Perilymphatic Gusher

Thies-Reis Syndrome

Deafness, Conductive, With Stapes Fixation

Deafness 3, Conductive, With Stapes Fixation

Deafness, Mixed, With Perilymphatic Gusher

Conductive Deafness 3 With Stapes Fixation

Conductive Deafness With Stapes Fixation

Mixed Deafness With Perilymphatic Gusher

X-Linked Deafness Type 2

X-Linked Mixed Conductive And Neurosensory Hearing Loss

X-Linked Mixed Conductive And Sensorineural Hearing Loss

X-Linked Sensorineural Deafness

X-Linked Stapes Gusher Syndrome

Deafness Mixed With Perilymphatic Gusher, X-Linked

Dfn 3 Nonsyndromic Hearing Loss And Deafness

Gusher Syndrome

Thies Reis Syndrome

Progressive Hearing Loss With Stapes Fixation

Deafness, X-Linked, 2

Deafness Mixed With Perilymph Gusher X-Linked

Deafness, X-Linked, Type 2

Progressive Hearing Loss Stapes Fixation

Deafness, Autosomal Recessive 2

DFNB2

Neurosensory Nonsyndromic Recessive Deafness 2

Nsrd2

Autosomal Recessive Nonsyndromic Deafness 2

Deafness, Autosomal Recessive, Type 2

Autosomal Recessive Deafness 2

Deafness, Autosomal Recessive, 2

Deafness Neurosensory Autosomal Recessive 2

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 2

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 2

Deafness, Autosomal Recessive 2, Neurosensory

Endemic Goiter

Iodine-Deficiency-Related Endemic Goitre

Simple Goitre

Goiter, Endemic

Euthyroid Goiter

Deafness, Autosomal Recessive 8

Neurosensory Nonsyndromic Recessive Deafness 8

DFNB8

Dfnb10

Deafness, Autosomal Recessive 10

Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8

Nsrd8

Autosomal Recessive Nonsyndromic Deafness 8

Deafness, Autosomal Recessive 8/10

Autosomal Recessive Deafness 10

Autosomal Recessive Deafness 8

Childhood-Onset Neurosensory Autosomal Recessive Deafness 8

Nrsd8

Deafness, Autosomal Recessive, 8

Childhood-Onset Neurosensory Deafness Autosomal Recessive 8

Deafness Autosomal Recessive 10

Deafness Autosomal Recessive 8/10

Deafness Neurosensory Autosomal Recessive 8

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 8

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 8

Deafness, Autosomal Recessive, Type 8/10

Deafness, Autosomal Recessive 12

DFNB12

Deafness, Autosomal Recessive 12, Modifier Of

Autosomal Recessive Nonsyndromic Deafness 12

Autosomal Recessive Deafness 12

Deafness, Autosomal Recessive, 12

Congenital Neurosensory Deafness Autosomal Recessive 12

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12

Deafness, Autosomal Recessive, Type 12

Deafness, Autosomal Dominant 6

DFNA6

Dfna14

Dfna38

Deafness, Autosomal Dominant 6/14/38

Autosomal Dominant Nonsyndromic Deafness 6

Deafness, Autosomal Dominant 14

Deafness, Autosomal Dominant 38

Autosomal Dominant Deafness 14

Autosomal Dominant Deafness 38

Autosomal Dominant Deafness 6

Deafness, Autosomal Dominant, 6

Deafness Autosomal Dominant 14

Deafness Autosomal Dominant 38

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 6

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 6

Baraitser-Winter Syndrome

Fryns-Aftimos Syndrome

Brws

Cerebro-Frontofacial Syndrome, Type 3

Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation

Iris Coloboma With Ptosis Hypertelorism And Intellectual Disability

Trigonocephaly Ptosis Coloboma

Trigonocephaly Ptosis Intellectual Disability

Cerebrofrontofacial Syndrome Type 3

Meniere Disease

Meniere'S Disease

Otogenic Vertigo

Ménière Disease

Ménière'S Disease

Mnire'S Vertigo

Auditory Vertigo

Aural Vertigo

Meniere'S Syndrome

Ménière'S Vertigo

Primary Endolymphatic Hydrops

Menieres Disease

Vertigo, Aural

Labyrinth Hydrops

Labyrinthine Hydrops

Labyrinthine Vertigo

Ménière Syndrome

Ménière Vertigo

Idiopathic Endolymphatic Hydrops

Deafness, Autosomal Dominant 15

DFNA15

Autosomal Dominant Nonsyndromic Deafness 15

Autosomal Dominant Deafness 15

Deafness, Autosomal Dominant, 15

Deafness, Autosomal Dominant, Type 15

Y-Linked Deafness

Dfny

Deafness, Autosomal Dominant 9

DFNA9

Autosomal Dominant Nonsyndromic Deafness 9

Autosomal Dominant Deafness 9

Deafness, Autosomal Dominant, 9

Deafness, Autosomal Dominant, Type 9

Deafness, Autosomal Recessive 1b

DFNB1B

Autosomal Recessive Nonsyndromic Deafness 1b

Autosomal Recessive Deafness 1b

Deafness, Autosomal Recessive, 1b

Deafness Digenic Gjb2/Gjb6

Deafness Neurosensory Autosomal Recessive 1

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1

Nsrd1

Deafness, Autosomal Recessive, Type 1b

Deafness, Aminoglycoside-Induced

Streptomycin Ototoxicity

Deafness, Mitochondrial, Modifier Of

Aminoglycoside-Induced Deafness

Deafness, Streptomycin-Induced

Streptomycin-Induced Deafness

DFNI

Deafness, Autosomal Dominant 11

DFNA11

Autosomal Dominant Nonsyndromic Deafness 11

Autosomal Dominant Deafness 11

Deafness, Autosomal Dominant, 11

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 11

Deafness, Autosomal Dominant, Type 11

Thyroid Dyshormonogenesis 6

TDH6

Genetic Defect In Thyroid Hormonogenesis 6

Thyroid Hormonogenesis, Genetic Defect In, 6

Hypothyroidism, Congenital, Due To Dyshormonogenesis, 6

Chdh6

Congenital Hypothyroidism Due To Dyshormonogenesis Type 6

Waardenburg'S Syndrome

Waardenburg Syndrome

Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome

Van Der Hoeve Halbertsona Waardenburg Syndrome

Waardenburg Shah Syndrome

Waardenburg, Types I And/Or Ii

Mende Syndrome

Waardenburgs Syndrome

Waardenburg Syndrome, Type 4a

Deafness, Autosomal Recessive 83

DFNB83

Autosomal Recessive Nonsyndromic Deafness 83

Autosomal Recessive Deafness 83

Deafness, Autosomal Recessive 21

DFNB21

Autosomal Recessive Nonsyndromic Deafness 21

Autosomal Recessive Deafness 21

Deafness, Autosomal Recessive, 21

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 21

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 21

Deafness, Autosomal Recessive, Type 21

Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance

Sesame Syndrome

East Syndrome

SESAMES

Epilepsy, Ataxia, Sensorineural Deafness And Tubulopathy

Seizures, Sensorineural Deafness, Ataxia, Mental Retardation And Electrolyte Imbalance

Epilepsy-Ataxia-Sensorineural Deafness-Tubulopathy Syndrome

Seizures-Sensorineural Deafness-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome

Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy

Seizures - Sensorineural Deafness - Ataxia - Intellectual Disability - Electrolyte Imbalance

Epilepsy-Ataxia-Sensorineural Hearing Loss-Tubulopathy Syndrome

Seizures-Sensorineural Hearing Loss-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome

Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance

Epilepsy Ataxia Sensorineural Deafness And Tubulopathy

Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance Syndrome

Thyroid Gland Disease

Abnormality Of The Thyroid Gland

Thyroid Diseases

Branchiootorenal Syndrome

Branchio-Oto-Renal Syndrome

Bor Syndrome

Branchiootorenal Dysplasia

Melnick-Fraser Syndrome

Branchiootorenal Spectrum Disorders

Branchio-Otorenal Dysplasia

Branchio Oto Renal Syndrome

Branchiootorenal/Branchiootic Syndrome

Bo Syndrome

Bor

Bos

Branchio-Otorenal Syndrome

Branchiootic Syndrome

Branchiootorenal Syndrome

Branchiootic Syndrome 1

Usher Syndrome, Type Id

Usher Syndrome Type 1d

USH1D

Usher Syndrome, Type 1d

Usher Syndrome Type Id

Usher Syndrome, Type Id/F, Digenic

Usher Syndrome, Type 1d/F Digenic

Usher Syndrome 1d

Usher'S Syndrome Type 1d

Usher Syndrome 1d/F

USH1DF

Ush1d/F

Usher'S Syndrome Type 1h

Usher Syndrome 1h

Usher Syndrome Type Ih

Usher Syndrome, Type 1d/F

Vertigo, Benign Recurrent

Benign Paroxysmal Positional Vertigo

Bppv

Vestibulopathy, Familial

BRV

Vertigo, Benign Paroxysmal Positional

Benign Paroxysmal Positional Nystagmus

Benign Recurrent Vertigo

Familial Benign Recurrent Vertigo

Familial Vestibulopathy

Benign Paroxysmal Nystagmus

Bppv - [Benign Positional Paroxysmal Vertigo]

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Renal Tubular Transport Disease

Renal Tubular Transport, Inborn Errors

Inborn Renal Tubular Transport Disorder

Usher Syndrome Type 2

Ush2

Usher Syndrome Type Ii

Deafness, Autosomal Dominant 4a

Deafness, Autosomal Dominant 4

DFNA4A

Dfna4

Autosomal Dominant Nonsyndromic Deafness 4a

Autosomal Dominant Deafness 4a

Deafness, Autosomal Dominant, 4a

Deafness Autosomal Dominant 4

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 4

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 4

Deafness, Autosomal Dominant, Type 4a

Usher Syndrome, Type Iia

Usher Syndrome Type 2a

USH2A

Usher Syndrome, Type 2a

Usher Syndrome Type Iia

Retinal Disease In Usher Syndrome Type Iia, Modifier Of

Us2

Ush2

Usher Syndrome 2a

Usher'S Syndrome Type 2a

Ushiia

Jervell And Lange-Nielsen Syndrome 1

Jervell And Lange-Nielsen Syndrome

Jervell-Lange Nielsen Syndrome

Prolonged Qt Interval In Ekg And Sudden Death

Cardioauditory Syndrome Of Jervell And Lange-Nielsen

Surdo-Cardiac Syndrome

JLNS1

Deafness, Congenital, And Functional Heart Disease

Jlns

Long Qt Interval-Deafness Syndrome

Jervell And Lange-Nielson Syndrome

Jervell Lange-Nielsen Syndrome

Autosomal Recessive Long Qt Syndrome

Cardio-Auditory-Syncope Syndrome

Long Qt Interval-Hearing Loss Syndrome

Congenital Deafness And Functional Heart Disease

Long Qt Interval-Deafness

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes

Bartter Disease

Bartter Syndrome

Bartter'S Syndrome

Aldosteronism With Hyperplasia Of The Adrenal Cortex

Hypokalemic Alkalosis With Hypercalciuria

Potassium Wasting

Juxtaglomerular Hyperplasia With Secondary Aldosteronism

Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria

Salt-Losing Tubular Disorder, Henle'S Loop Type

Salt-Wasting Tubulopathy, Henle'S Loop Type

Bartters Syndrome

Usher Syndrome, Type I

USH1

Usher Syndrome Type 1

Us1

Usher Syndrome, Type 1b

Usher Syndrome Type 1e

Retinitis Pigmentosa And Congenital Deafness

Usher Syndrome, Type Ie

USH1E

Usher Syndrome, Type 1e

Usher Syndrome, Type 1a

Usher Syndrome, Type Ib

Usher Syndrome Type 1b

Usher Syndrome Type Ie

Usher Syndrome Type I

Usher 1

Usher Syndrome, Type 1

Ush1a

Usher Syndrome, Type I, French Variety

Usher Syndrome, Type Ia

Usher Syndrome 1b

USH1B

Usher'S Syndrome Type 1b

Usher Syndrome Type Ib

Ushib

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Liddle Syndrome 1

Liddle Syndrome

Pseudoaldosteronism

Liddle'S Syndrome

LIDLS1

Lidls

Pseudohyperaldosteronism

Pseudoprimary Hyperaldosteronism

Pseudohyperaldosteronism Type 1

Liddles Syndrome

Stickler Syndrome

Arthroophthalmopathy

Hereditary Arthro-Ophthalmo-Dystrophy

Hereditary Arthro-Ophthalmopathy

Stickler Dysplasia

Hereditary Progressive Arthroophthalmopathy

Stickler Syndrome, Type 1

Otosclerosis

Otospongiosis

Thyroid Gland Follicular Carcinoma

Follicular Thyroid Carcinoma

Follicular Adenocarcinoma

Follicular Adenocarcinoma, Well Differentiated

Follicular Carcinoma

Thyroid Adenocarcinoma

Adenocarcinoma, Follicular

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Sensory System Disease
Charge Syndrome

Charge Association

Hall-Hittner Syndrome

Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies

Hhs

Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies

Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome

CHARGES

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus SLC26A4 VGNC VGNC:34779
Felis catus SLC26A4 VGNC VGNC:68778
Rattus norvegicus SLC26A4 RGD RGD:3293
Macaca mulatta SLC26A4 VGNC VGNC:77595
Mus musculus SLC26A4 MGD MGI:1346029
Canis familiaris SLC26A4 VGNC VGNC:46324
Others SLC26A4 NCBI