USH1C - USH1 protein network component harmonin Gene

Also Known as PDZ73; AIE-75; DFNB18; PDZ-45; PDZ-73; PDZD7C; DFNB18A; NY-CO-37; NY-CO-38; ush1cpst; PDZ-73/NY-CO-38

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10083

About USH1C

Cytogenetic location: 11p15.1 Genomic coordinates (GRCh38): 11:17,493,900-17,544,416 (from NCBI)

This gene has 11 transcripts (splice variants), 201 orthologues, 2 paralogues and is associated with 6 phenotypes. Biased expression in small intestine (RPKM 13.7), duodenum (RPKM 13.0) and 6 other tissues.

Summary

This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

USH1C Products (3)

mRNA Protein Name
NM_001297764.2 NP_001284693.1 harmonin isoform c
NM_005709.4 NP_005700.2 harmonin isoform a
NM_153676.4 NP_710142.1 harmonin isoform b3
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
11311560 GOA
enables spectrin binding IDA
IDA: Inferred from direct assay
23704327 GOA
Biological Process GO Annotation Evidence References Source
involved in G2/M transition of mitotic cell cycle IMP
IMP: Inferred from mutant phenotype
15219944 GOA
involved in brush border assembly IDA
IDA: Inferred from direct assay
32209652 GOA
involved in brush border assembly IMP
IMP: Inferred from mutant phenotype
24725409 GOA
involved in equilibrioception IMP
IMP: Inferred from mutant phenotype
10973247 GOA
involved in photoreceptor cell maintenance IMP
IMP: Inferred from mutant phenotype
11398101 GOA
involved in protein localization to microvillus IMP
IMP: Inferred from mutant phenotype
24725409 GOA
involved in protein-containing complex assembly IDA
IDA: Inferred from direct assay
26812018 GOA
involved in sensory perception of light stimulus IMP
IMP: Inferred from mutant phenotype
11398101 GOA
involved in sensory perception of sound IMP
IMP: Inferred from mutant phenotype
11398101 GOA
Cellular Component GO Annotation Evidence References Source
located in apical part of cell IDA
IDA: Inferred from direct assay
10209257 GOA
located in brush border IDA
IDA: Inferred from direct assay
21330445 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
10209257 GOA
located in microvillus IDA
IDA: Inferred from direct assay
24725409 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

USH1C Protein Structure

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (89 - 164)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (218 - 287)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (458 - 525)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 552 a.a.
Protein Preferred Names Protein Names

harmonin

  • Usher syndrome 1C (autosomal recessive, severe)

USH1C Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
USH1C Q9Y6N9 MIPOL1 Homo sapiens Q8TD10 25416956
Intra
USH1C Q9Y6N9 MIPOL1 Homo sapiens Q8TD10 25416956
Intra
USH1C Q9Y6N9 RAC1 Homo sapiens P63000 25416956
Intra
USH1C Q9Y6N9 RAC1 Homo sapiens P63000 25416956
Intra
USH1C Q9Y6N9 RAC1 Homo sapiens P63000 25416956
Intra
USH1C Q9Y6N9 CTNNAL1 Homo sapiens Q9UBT7 25416956
Intra
USH1C Q9Y6N9 CTNNAL1 Homo sapiens Q9UBT7 25416956
Intra
USH1C Q9Y6N9 USH1G Homo sapiens Q495M9
ITC
20142502
Intra
USH1C Q9Y6N9 USH1G Homo sapiens Q495M9 20142502
Intra
USH1C Q9Y6N9 USH1G Homo sapiens Q495M9 31515488
Intra
USH1C Q9Y6N9 USH1G Homo sapiens Q495M9
GMS
20142502
Intra
USH1C Q9Y6N9 USH1G Homo sapiens Q495M9 25502805
Intra
USH1C Q9Y6N9 USH1G Homo sapiens Q495M9 20142502
Intra
USH1C Q9Y6N9 USH1G Homo sapiens Q495M9 12588794
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant USH1C Proteins

Cat. No. Product Name Accession Purity
HY-P71659 USH1C Protein, Human (His-SUMO) Q9Y6N9-4(M1-F533) ≥ 90%, as determined by reducing SDS-PAGE.
HY-P76966 USH1C Protein, Human (His) Q9Y6N9 (M1-F552) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
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

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

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

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 2
  • Ush2

  • Usher Syndrome Type Ii

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

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Rare Genetic Deafness
  • Rare Genetic Hearing Loss

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

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

Autoimmune Enteropathy
Deafness, Autosomal Recessive
Autosomal Recessive Nonsyndromic Deafness
  • Deafness, Autosomal Recessive, Nonsyndromic

Retinal Degeneration
  • Degeneration Of Retina

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 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 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 Dominant 59
  • DFNA59

  • Autosomal Dominant Nonsyndromic Deafness 59

  • Autosomal Dominant Deafness 59

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 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 57
  • DFNB57

  • Autosomal Recessive Nonsyndromic Deafness 57

  • Autosomal Recessive Deafness 57

  • Deafness, Autosomal Recessive, 57

  • Deafness, Autosomal Recessive, Type 57

Usher Syndrome, Type Iid
  • Usher Syndrome Type 2d

  • USH2D

  • Usher Syndrome, Type 2d

  • Usher Syndrome Type Iid

  • Usher Syndrome 2d

  • Usher Syndrome, Type Ii

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 Recessive 7
  • DFNB7

  • Dfnb11

  • Deafness, Autosomal Recessive 11

  • Autosomal Recessive Nonsyndromic Deafness 7

  • Autosomal Recessive Deafness 7

  • Deafness, Autosomal Recessive, 7

  • Deafness Neurosensory Autosomal Recessive 11

  • Deafness Neurosensory Autosomal Recessive 7

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 7

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 7

  • Deafness, Autosomal Recessive, Type 7

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

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 Recessive 15
  • DFNB15

  • Dfnb72

  • Dfnb95

  • Deafness, Autosomal Recessive 72

  • Autosomal Recessive Nonsyndromic Deafness 15

  • Deafness, Autosomal Recessive 95

  • Autosomal Recessive Deafness 15

  • Autosomal Recessive Deafness 72

  • Autosomal Recessive Deafness 95

  • Deafness, Autosomal Recessive, 15

  • Deafness Autosomal Recessive 72

  • Deafness Autosomal Recessive 95

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 15

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 15

  • Deafness, Autosomal Recessive, Type 15

Y-Linked Deafness
  • Dfny

Deafness, Autosomal Recessive 17
  • DFNB17

  • Autosomal Recessive Nonsyndromic Deafness 17

  • Autosomal Recessive Deafness 17

Autosomal Recessive Nonsyndromic Deafness 36
  • Autosomal Recessive Deafness 36

  • Dfnb36

  • Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement

  • Deafness, Autosomal Recessive 36

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 9
  • DFNA9

  • Autosomal Dominant Nonsyndromic Deafness 9

  • Autosomal Dominant Deafness 9

  • Deafness, Autosomal Dominant, 9

  • Deafness, Autosomal Dominant, Type 9

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

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 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

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

Auditory System Disease
  • Ear Diseases

  • Ear And Mastoid Disease

Deafness, Autosomal Recessive 25
  • DFNB25

  • Autosomal Recessive Nonsyndromic Deafness 25

  • Autosomal Recessive Deafness 25

  • Deafness, Autosomal Recessive, 25

  • Deafness, Autosomal Recessive, Type 25

Bardet-Biedl Syndrome
  • Bbs

  • Biedl-Bardet Syndrome

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 65
  • DFNA65

  • Autosomal Dominant Nonsyndromic Deafness 65

  • Autosomal Dominant Deafness 65

  • Deafness, Autosomal Dominant, 65

  • Deafness, Autosomal Dominant, Type 65

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

Deafness, Autosomal Recessive 86
  • DFNB86

  • Autosomal Recessive Nonsyndromic Deafness 86

  • Autosomal Recessive Deafness 86

  • Deafness, Autosomal Recessive, 86

  • Deafness, Nonsyndromic, Autosomal Recessive, Type 86

Hyperinsulinism
  • Hyperinsulinemia

Autosomal Dominant Nonsyndromic Deafness
  • Autosomal Dominant Deafness

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

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

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

Pallister-Hall Syndrome
  • PHS

  • Hypothalamic Hamartomas

  • Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly

  • Hypothalamic Hamartoblastoma Syndrome

  • Hamartoma Of The Hypothalamus

  • Pallister Hall Syndrome

  • Hall-Pallister Syndrome

  • Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly

  • Hamartoma, Hypothalamic

Eye Degenerative Disease
Late-Onset Retinal Degeneration
  • LORD

  • Retinal Degeneration, Late-Onset, Autosomal Dominant

  • Autosomal Dominant Late-Onset Retinal Degeneration

  • Pigmentary Retinopathy

  • Retinal Degeneration, Late-Onset

  • Retinitis Pigmentosa

Stickler Syndrome
  • Arthroophthalmopathy

  • Hereditary Arthro-Ophthalmo-Dystrophy

  • Hereditary Arthro-Ophthalmopathy

  • Stickler Dysplasia

  • Hereditary Progressive Arthroophthalmopathy

  • Stickler Syndrome, Type 1

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
Felis catus USH1C VGNC VGNC:66860
Bos taurus USH1C VGNC VGNC:36704
Canis familiaris USH1C VGNC VGNC:48172
Rattus norvegicus USH1C RGD RGD:1303329
Macaca mulatta USH1C VGNC VGNC:78732
Mus musculus USH1C MGD MGI:1919338
Others USH1C NCBI