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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12485990	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in calcium ion transport	IMP IMP: Inferred from mutant phenotype	17234811	GOA
involved in equilibrioception	IMP IMP: Inferred from mutant phenotype	16679490	GOA
involved in photoreceptor cell maintenance	IMP IMP: Inferred from mutant phenotype	16679490	GOA
involved in regulation of cytosolic calcium ion concentration	IMP IMP: Inferred from mutant phenotype	17234811	GOA
involved in sensory perception of light stimulus	IMP IMP: Inferred from mutant phenotype	16679490	GOA
acts upstream of or within sensory perception of sound	IMP IMP: Inferred from mutant phenotype	15537665	GOA
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	16679490	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CDH23 Protein Structure

Cadherin

0
600
1200
1800
2400
3000
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02333	CDH23 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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