1. Gene
  2. CDH23 - cadherin related 23 Gene

CDH23 - cadherin related 23 Gene

Homo sapiens

Also known as PITA5; USH1D; CDHR23

Gene ID: 64072 | Gene type: protein coding

About CDH23

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:71,396,920-71,815,947 (from NCBI)

This gene has 17 transcripts (splice variants), 221 orthologues, 33 paralogues and is associated with 11 phenotypes. Broad expression in ovary (RPKM 4.2), fat (RPKM 2.9) and 18 other tissues.

Summary

This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast Cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]

CDH23 Products(9)

mRNA Protein Name
NM_001171930.2 NP_001165401.1 cadherin-23 isoform 3 precursor
NM_001171931.2 NP_001165402.1 cadherin-23 isoform 4 precursor
NM_001171932.2 NP_001165403.1 cadherin-23 isoform 5 precursor
NM_001171933.1 NP_001165404.1 cadherin-23 isoform 6
NM_001171934.1 NP_001165405.1 cadherin-23 isoform 7
NM_001171935.1 NP_001165406.1 cadherin-23 isoform 8
NM_001171936.1 NP_001165407.1 cadherin-23 isoform 9
NM_022124.6 NP_071407.4 cadherin-23 isoform 1 precursor
NM_052836.4 NP_443068.1 cadherin-23 isoform 2 precursor

CDH23 Protein Structure

Cadherin

Cadherin: Cadherin domain (42 - 112)

Cadherin

Cadherin: Cadherin domain (149 - 231)

Cadherin

Cadherin: Cadherin domain (246 - 341)

Cadherin

Cadherin: Cadherin domain (470 - 557)

Cadherin

Cadherin: Cadherin domain (571 - 666)

Cadherin

Cadherin: Cadherin domain (681 - 773)

Cadherin

Cadherin: Cadherin domain (789 - 883)

Cadherin

Cadherin: Cadherin domain (901 - 991)

Cadherin

Cadherin: Cadherin domain (1005 - 1095)

Cadherin

Cadherin: Cadherin domain (1112 - 1203)

Cadherin

Cadherin: Cadherin domain (1223 - 1308)

Cadherin

Cadherin: Cadherin domain (1323 - 1414)

Cadherin

Cadherin: Cadherin domain (1431 - 1523)

Cadherin

Cadherin: Cadherin domain (1538 - 1629)

Cadherin

Cadherin: Cadherin domain (1655 - 1739)

Cadherin

Cadherin: Cadherin domain (1757 - 1847)

Cadherin

Cadherin: Cadherin domain (1862 - 1939)

Cadherin

Cadherin: Cadherin domain (2081 - 2169)

Cadherin

Cadherin: Cadherin domain (2185 - 2272)

Cadherin

Cadherin: Cadherin domain (2309 - 2397)

Cadherin

Cadherin: Cadherin domain (2415 - 2505)

Cadherin

Cadherin: Cadherin domain (2520 - 2606)

Cadherin

Cadherin: Cadherin domain (2626 - 2710)

Cadherin

Cadherin: Cadherin domain (2741 - 2819)

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  • 3359 a.a.
Protein Preferred Names Protein Names

cadherin-23

cadherin-like 23

Related Diseases

Diseases Alias
Pituitary Adenoma 5, Multiple Types

PITA5

Pituitary Adenoma 5

{Pituitary Adenoma 5, Multiple Types}

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

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

Non-Syndromic Genetic Deafness

Nonsyndromic Genetic Hearing Loss

Isolated Genetic Deafness

Isolated Genetic Hearing Loss

Non-Syndromic Genetic Hearing Loss

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

Rare Genetic Deafness

Rare Genetic Hearing Loss

Deafness, Autosomal Recessive 84a

DFNB84A

Deafness, Autosomal Recessive 84

Autosomal Recessive Nonsyndromic Deafness 84a

Dfnb84

Deafness, Autosomal Recessive 84a, With Vestibular Dysfunction

Autosomal Recessive Deafness 84a

Autosomal Recessive Deafness 84a With Vestibular Dysfunction

Deafness, Autosomal Recessive, 84a

Deafness Autosomal Recessive 84

Deafness Autosomal Recessive 84a With Vestibular Dysfunction

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 84

Deafness, Autosomal Recessive, Type 84a

Nonsyndromic Hearing Loss

Nonsyndromic Deafness

Nonsyndromic Hearing Impairment

Nonsyndromic Hearing Loss And Deafness

Deafness, Nonsyndromic

Isolated Deafness

Usher Syndrome Type 2

Ush2

Usher Syndrome Type Ii

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

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

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

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

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

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Tsh Producing Pituitary Tumor

Thyrotroph Adenoma

Tsh Producing Pituitary Tumour

Tsh Secreting Adenoma Of The Pituitary

Tsh Secreting Tumor Of Pituitary

Tsh Secreting Tumour Of Pituitary

Tsh-Secreting Pituitary Adenoma

Pituitary Thyrotrophic Adenoma

Tsh-Oma

Thyroid Stimulating Hormone-Secreting Pituitary Adenoma

Thyroid Stimulating Hormone-Producing Pituitary Tumor

Prolactinoma

Prolactin-Producing Pituitary Gland Adenoma

Prolactin-Secreting Pituitary Adenoma

Forbes-Albright Syndrome

Lactotroph Adenoma

Prl-Secreting Pituitary Adenoma

Prloma

Pituitary Lactotrophic Adenoma

Familial Prolactinoma

Pituitary Adenoma, Prolactin-Secreting

Prolactinoma Of Pituitary Gland

PSPA

Gastrointestinal Defects And Immunodeficiency Syndrome 1

Familial Intestinal Polyatresia Syndrome

Fipa

Gastrointestinal Defects And Immunodeficiency Syndrome

Multiple Gastrointestinal Atresias

Familial Isolated Pituitary Adenoma

Intestinal Atresia, Multiple

Multiple Intestinal Atresia

GIDID1

Multiple Intestinal Atresia And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

Minat

Gidid

Meddra:10028210

Familial Isolated Pituitary Adenoma Syndrome

Intestinal Atresia Multiple

Combined Immunodeficiency-Enteropathy Spectrum

Cid-Mia/Early-Onset Ibd

Intestinal Atresia, Multiple And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

Mia

Gastrointestinal Defect And Immunodeficiency Syndrome

Pituitary Adenoma Predisposition

Pituitary Adenoma, Familial Isolated

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

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

Hearing Loss, Noise-Induced

Noise-Induced Hearing Loss

NIHL

Hearing Loss, Noise-Induced, Susceptibility To

Hearing Loss Noise-Induced

Noise Induced Hearing Loss

Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

Acute Hemorrhagic Leukoencephalitis

Ahl

Acute Haemorrhagic Leucoencephalitis Of Weston Hurst

Leukoencephalitis, Acute Hemorrhagic

Acute Hemorrhagic Encephalomyelitis

Acute Necrotizing Hemorrhagic Leukoencephalitis

Weston-Hurst Syndrome

Ahle

Acute Haemorrhagic Leucoencephalitis

Hurst Disease

Acute Haemorrhagic Leukoencephalitis, Postimmunization Or Postvaccinal

Postimmunization Or Postvaccinal Leukoencephalopathy

Ear Malformation

Cup Ear

Conn'S Syndrome

Cushing Syndrome

Hyperaldosteronism

Primary Hyperaldosteronism

Hypercortisolism

Primary Aldosteronism

Cushing'S Syndrome

Adrenal Gland Hyperfunction

Conn Syndrome

Hyperadrenalism

Ectopic Acth Syndrome

Hyperadrenocorticism

Cushing Disease

Cushing'S Disease

Adrenal Cortex Adenoma

Corticotroph Pituitary Adenoma

Pituitary Corticotroph Micro-Adenoma

Pituitary-Dependent Cushing Syndrome

Pituitary Acth Hypersecretion

Acth Syndrome, Ectopic

Acth-Secreting Pituitary Adenoma

Adrenal Hyperfunction Resulting From Pituitary Acth Excess

Ectopic Adrenocorticotropic Hormone Syndrome

Nodular Primary Adrenocortical Dysplasia

Pituitary Dependent Cushing Syndrome

Pituitary Cushing Syndrome

Pituitary-Dependant Cushing Syndrome

Pituitary-Dependant Hypercortisolism

Pituitary-Dependant Hypercortisolism Disorder

Aldosteronism Primary

Acth Syndrome Ectopic

Adrenal Cushing'S Syndrome

Adrenal Cortical Adenoma

Cushing Syndrome Nos

Cortisol Hypersecretion

Corticoadrenal Hypersecretion

Cushing Syndrome Secondary To Ectopic Acth-Secretion

Ectopic Cushing Syndrome

Hypercortisolism Due To Nonpituitary Tumour

Ectopic Acth - [Adrenocorticotropic Hormone] Secretion

Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome

Idiopathic Aldosteronism

Aldosteronism

Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia

Primary Aldosteronism Due To Adrenal Hyperplasia

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

Deafness, Autosomal Recessive
Deafness, Autosomal Recessive 23

DFNB23

Autosomal Recessive Nonsyndromic Deafness 23

Autosomal Recessive Deafness 23

Deafness, Autosomal Recessive, 23

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 23

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 23

Deafness, Autosomal Recessive, Type 23

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

Usher Syndrome, Type Ic

USH1C

Usher Syndrome Type 1c

Usher Syndrome, Type 1c

Usher Syndrome Type I Acadian Variety

Usher Syndrome Type Ic

Usher Syndrome, Type I, Acadian Variety

Usher Syndrome 1c

Acadian Usher Syndrome

Usher'S Syndrome Type 1c

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

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

Usher Syndrome, Type If

Usher Syndrome Type 1f

USH1F

Usher Syndrome, Type 1f

Usher Syndrome Type If

Usher Syndrome 1f

Usher'S Syndrome Type 1f

Deafness, Autosomal Dominant 65

DFNA65

Autosomal Dominant Nonsyndromic Deafness 65

Autosomal Dominant Deafness 65

Deafness, Autosomal Dominant, 65

Deafness, Autosomal Dominant, Type 65

Auditory System Disease

Ear Diseases

Ear And Mastoid Disease

Deafness, Autosomal Dominant 36

DFNA36

Autosomal Dominant Nonsyndromic Deafness 36

Autosomal Dominant Deafness 36

Deafness, Autosomal Dominant, 36

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 36

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 36

Deafness, Autosomal Dominant, Type 36

Deafness, Autosomal Recessive 6

DFNB6

Neurosensory Nonsyndromic Recessive Deafness 6

Nsrd6

Autosomal Recessive Nonsyndromic Deafness 6

Autosomal Recessive Deafness 6

Deafness, Autosomal Recessive, 6

Deafness Neurosensory Autosomal Recessive 6

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 6

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 6

Deafness, Autosomal Recessive, Type 6

Usher Syndrome, Type Iic

Usher Syndrome Type 2c

USH2C

Usher Syndrome, Type 2c

Usher Syndrome, Type Iic, Gpr98/Pdzd7 Digenic

Usher Syndrome Type Iic

Usher Syndrome, Type 2c, Gpr98/Pdzd7 Digenic

Usher Syndrome 2c

Usher'S Syndrome Type 2c

Usher Syndrome Type Iic Gpr98/Pdzd7 Digenic

Autosomal Recessive Nonsyndromic Deafness 70

Deafness, Autosomal Recessive 70

Autosomal Recessive Deafness 70

Dfnb70

Deafness, Autosomal Recessive, Type 70

Deafness, Autosomal Recessive 18a

Deafness, Autosomal Recessive 18

DFNB18A

Dfnb18

Autosomal Recessive Nonsyndromic Deafness 18a

Autosomal Recessive Deafness 18a

Deafness, Autosomal Recessive, 18a

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 18

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 18

Deafness, Autosomal Recessive, Type 18a

Deafness, Autosomal Recessive 65

DFNB65

Autosomal Recessive Nonsyndromic Deafness 65

Autosomal Recessive Deafness 65

Acute Disseminated Encephalomyelitis

Acute Disseminated Encephalitis

Adem

Ade

Encephalomyelitis Acute Disseminated

Encephalomyelitis, Acute Disseminated

Adem - [Acute Disseminated Encephalomyelitis]

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa 8, Formerly

Rp8, Formerly

Retinitis Pigmentosa 21, Formerly

Rp21, Formerly

Usher Syndrome

Deafness, Autosomal Recessive 35

DFNB35

Autosomal Recessive Nonsyndromic Deafness 35

Autosomal Recessive Deafness 35

Deafness, Autosomal Recessive, 35

Deafness, Autosomal Recessive, Type 35

Autosomal Recessive Nonsyndromic Deafness 3

Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3

Dfnb3

Nrsd3

Deafness, Autosomal Recessive 3

Deafness, Autosomal Recessive 66

DFNB66

Autosomal Recessive Nonsyndromic Deafness 66

Autosomal Recessive Deafness 66

Deafness, Autosomal Recessive, 66

Deafness, Autosomal Recessive, Type 66

Deafness, Autosomal Recessive 57

DFNB57

Autosomal Recessive Nonsyndromic Deafness 57

Autosomal Recessive Deafness 57

Deafness, Autosomal Recessive, 57

Deafness, Autosomal Recessive, Type 57

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 Recessive 86

DFNB86

Autosomal Recessive Nonsyndromic Deafness 86

Autosomal Recessive Deafness 86

Deafness, Autosomal Recessive, 86

Deafness, Nonsyndromic, Autosomal Recessive, Type 86

Digenic Disease
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

Deafness, Autosomal Dominant 3a

DFNA3A

Autosomal Dominant Nonsyndromic Deafness 3a

Autosomal Dominant Deafness 3a

Deafness, Autosomal Dominant, 3a

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3a

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3a

Deafness, Autosomal Dominant, Type 3a

Deafness, Autosomal Recessive 67

DFNB67

Autosomal Recessive Nonsyndromic Deafness 67

Autosomal Recessive Deafness 67

Deafness, Autosomal Recessive, 67

Deafness, Autosomal Recessive, Type 67

Vestibular Disease

Vestibular Diseases

Vertigo, Vestibular Disorder

Vestibular Disorder

Diseases Of Inner Ear

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

Usher Syndrome, Type Iiia

Usher Syndrome Type 3

Ush3

Usher Syndrome Type 3a

USH3A

Usher Syndrome, Type Iii

Usher Syndrome, Type 3

Usher Syndrome, Type 3a

Usher Syndrome Type Iiia

Usher Syndrome 3a

Usher'S Syndrome Type 3

Usher Syndrome Iii

Usher Syndrome Type Iii

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

Deafness, Autosomal Recessive 37

DFNB37

Autosomal Recessive Nonsyndromic Deafness 37

Autosomal Recessive Deafness 37

Deafness, Autosomal Recessive, 37

Congenital Neurosensory Deafness Autosomal Recessive 37

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 37

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 37

Deafness, Autosomal Recessive, Type 37

Deafness, Autosomal Recessive 91

DFNB91

Autosomal Recessive Nonsyndromic Deafness 91

Autosomal Recessive Deafness 91

Deafness, Autosomal Recessive, 91

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 91

Deafness, Autosomal Recessive, Type 91

Autosomal Recessive Nonsyndromic Deafness 36

Autosomal Recessive Deafness 36

Dfnb36

Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement

Deafness, Autosomal Recessive 36

Y-Linked Deafness

Dfny

Deafness, Autosomal Recessive 40

DFNB40

Autosomal Recessive Nonsyndromic Deafness 40

Autosomal Recessive Deafness 40

Deafness, Autosomal Recessive 55

DFNB55

Autosomal Recessive Nonsyndromic Deafness 55

Autosomal Recessive Deafness 55

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

Deafness, Autosomal Recessive 79

DFNB79

Autosomal Recessive Nonsyndromic Deafness 79

Autosomal Recessive Deafness 79

Deafness, Autosomal Recessive, 79

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 79

Deafness, Autosomal Recessive, Type 79

Deafness, Autosomal Recessive 83

DFNB83

Autosomal Recessive Nonsyndromic Deafness 83

Autosomal Recessive Deafness 83

Usher Syndrome, Type Ig

Usher Syndrome Type 1g

USH1G

Usher Syndrome, Type 1g

Usher Syndrome Type Ig

Usher Syndrome 1g

Usher'S Syndrome Type 1g

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

Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome

Deafness, Autosomal Dominant 25

DFNA25

Autosomal Dominant Nonsyndromic Deafness 25

Autosomal Dominant Deafness 25

Deafness, Autosomal Dominant, 25

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 25

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 25

Deafness, Autosomal Dominant, Type 25

Deafness, Autosomal Dominant 10

DFNA10

Autosomal Dominant Nonsyndromic Deafness 10

Autosomal Dominant Deafness 10

Deafness, Autosomal Dominant, 10

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 10

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 10

Deafness, Autosomal Dominant, Type 10

Retinal Degeneration

Degeneration Of Retina

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 30

DFNB30

Autosomal Recessive Nonsyndromic Deafness 30

Autosomal Recessive Deafness 30

Deafness, Autosomal Recessive, 30

Deafness, Autosomal Recessive, Type 30

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

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

Drug-Induced Hearing Loss

Drug Induced Hearing Loss

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome

Door Syndrome

Doors Syndrome

Digitorenocerebral Syndrome

Autosomal Recessive Deafness-Onychodystrophy Syndrome

Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome

DOORS

Drc Syndrome

Eronen Syndrome

Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Brachydactyly Due To Absence Of Distal Phalanges

Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome

Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome

Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome

Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome

Deafness, Congenital Onychodystrophy, Recessive Form

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome

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

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

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

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

Stickler Syndrome

Arthroophthalmopathy

Hereditary Arthro-Ophthalmo-Dystrophy

Hereditary Arthro-Ophthalmopathy

Stickler Dysplasia

Hereditary Progressive Arthroophthalmopathy

Stickler Syndrome, Type 1

Eye Degenerative Disease
Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Stargardt Disease

Stargardt Disease 1

Stargardt Macular Dystrophy

Stargardt Disease-1

Juvenile Onset Macular Degeneration

Stargardt Macular Degeneration

Juvenile Macular Degeneration

Macular Dystrophy With Flecks, Type 1

Stgd

Fundus Flavimaculatus

Stargardt 1

Stargardts Disease

Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness

Ovarian Dysgenesis With Sensorineural Deafness

Gonadal Dysgenesis, Xx Type

Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

Xx Gonodal Dysgenesis-Deafness Syndrome

Xx Gonodal Dysgenesis-Hearing Loss Syndrome

Gonadal Dysgenesis Xx Type Deafness

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

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
Mus musculus CDH23 MGD MGI:1890219
Macaca mulatta CDH23 VGNC VGNC:70942
Bos taurus CDH23 VGNC VGNC:107305
Rattus norvegicus CDH23 RGD RGD:619760
Canis familiaris CDH23 VGNC VGNC:50871