USH1D
MCID: USH040
MIFTS: 45

Usher Syndrome, Type Id (USH1D)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Usher Syndrome, Type Id

MalaCards integrated aliases for Usher Syndrome, Type Id:

Name: Usher Syndrome, Type Id 56 71
Usher Syndrome, Type 1d 56 74 52 29 13 6 39
Ush1d 56 12 52 73
Usher Syndrome, Type 1d/f Digenic 56 29
Usher Syndrome Type 1d 12 15
Usher Syndrome Type Id 12 73
Usher Syndrome, Type Id/f, Digenic 6
Usher's Syndrome Type 1d 73
Usher's Syndrome Type 1h 73
Usher Syndrome Type Ih 73
Usher Syndrome 1d/f 73
Usher Syndrome 1d 73
Usher Syndrome 1h 73
Ush1d/f 73
Ush1df 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive
digenic recessive

Miscellaneous:
allelic to deafness, autosomal recessive 12
second most common form of usher syndrome type i
digenic form type id/f caused by digenic mutation in the cdh23 and pcdh15 genes


HPO:

31
usher syndrome, type id:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110831
OMIM 56 601067
OMIM Phenotypic Series 56 PS276900
MeSH 43 D052245
ICD10 32 H35.5
UMLS 71 C1832845

Summaries for Usher Syndrome, Type Id

UniProtKB/Swiss-Prot : 73 Usher syndrome 1D: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.
Usher syndrome 1D/F: USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern.

MalaCards based summary : Usher Syndrome, Type Id, also known as usher syndrome, type 1d, is related to usher syndrome, type ih and retinitis pigmentosa-deafness syndrome. An important gene associated with Usher Syndrome, Type Id is CDH23 (Cadherin Related 23). Affiliated tissues include retina, eye and testes, and related phenotypes are hearing impairment and rod-cone dystrophy

Disease Ontology : 12 An Usher syndrome type 1 that has material basis in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22.

OMIM : 56 Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (276901) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3; 276902) have progressive hearing loss. For a discussion of genetic heterogeneity of Usher syndrome type I, see 276900. (601067)

Wikipedia : 74 Usher syndrome, also known as Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis... more...

Related Diseases for Usher Syndrome, Type Id

Diseases in the Usher Syndrome family:

Usher Syndrome, Type I Usher Syndrome, Type Iia
Usher Syndrome, Type Iiia Usher Syndrome, Type Ic
Usher Syndrome, Type Id Usher Syndrome, Type if
Usher Syndrome, Type Iic Usher Syndrome, Type Ig
Usher Syndrome, Type Iid Usher Syndrome, Type Ih
Usher Syndrome, Type Iiib Usher Syndrome, Type Ij
Usher Syndrome, Type Ik Usher Syndrome, Type Iv
Usher Syndrome, Type 1m Usher Syndrome Type 2
Usher Syndrome, Type 2b

Diseases related to Usher Syndrome, Type Id via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 100)
# Related Disease Score Top Affiliating Genes
1 usher syndrome, type ih 33.4 WHRN USH1G USH1C PCDH15 MYO7A CLRN1
2 retinitis pigmentosa-deafness syndrome 30.3 WHRN USH2A PCDH15 MYO7A CDH23
3 branchiootic syndrome 1 29.5 WHRN USH2A USH1G PTPRQ MYO7A GJB2
4 retinal disease 29.5 USH2A USH1G USH1C PDZD7 PCDH15 MYO7A
5 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.2 WHRN USH1C STRC PTPRQ PCDH15 MYO7A
6 deafness, autosomal recessive 12 27.4 WHRN VEZT USH2A USH1G USH1C STRC
7 usher syndrome 27.0 WHRN USH2A USH1G USH1C STRC PDZD7
8 retinitis pigmentosa 26.9 WHRN USH2A USH1G USH1C PTPRQ PDZD7
9 sensorineural hearing loss 26.7 WHRN USH2A USH1G USH1C STRC PTPRQ
10 usher syndrome type 2 26.6 WHRN VEZT USH2A USH1G USH1C STRC
11 usher syndrome, type i 25.8 WHRN VEZT USH2A USH1G USH1C STRC
12 drug-induced hearing loss 10.5 MYO7A CDH23
13 acute hemorrhagic leukoencephalitis 10.5 USH1G CDH23
14 nonsyndromic retinitis pigmentosa 10.4 USH2A CLRN1
15 autosomal recessive nonsyndromic deafness 36 10.4 WHRN USH1C PCDH15
16 deafness, autosomal recessive 8 10.4 MYO15A GJB2
17 deafness, autosomal dominant 27 10.4 STRC CDH23
18 cone-rod dystrophy 15 10.4 MYO7A CDH17
19 deafness, autosomal recessive 5 10.4 USH1C STRC
20 deafness, autosomal recessive 77 10.4 GJB2 CDH23
21 labyrinthitis 10.3 MYO7A GJB2
22 perrault syndrome 10.3 PCDH15 CLRN1 CDH23
23 deafness, autosomal dominant 20 10.3 USH1G CDH23
24 baraitser-winter syndrome 10.3 WHRN CIB2 CDH23
25 deafness, autosomal recessive 48 10.3 WHRN MYO7A CIB2
26 deafness, autosomal dominant 17 10.3 PCDH15 MYO7A MYO15A
27 retinal degeneration 10.3
28 deafness, autosomal dominant 40 10.3 PCDH15 CDH23 CDH17
29 inherited retinal disorder 10.3 USH2A MYO7A CDH23
30 dfnb1 10.3 PCDH15 MYO7A GJB2
31 usher syndrome, type ig 10.3 USH1G USH1C PCDH15 CDH23
32 deafness, autosomal dominant 48 10.3 MYO7A MYO15A CIB2
33 deafness, autosomal recessive 63 10.3 MYO7A MYO15A
34 deafness, autosomal dominant 9 10.3 PCDH15 MYO7A GJB2
35 deafness, autosomal recessive 37 10.3 MYO7A MYO15A
36 deafness, autosomal dominant 25 10.3 USH1C MYO7A GJB2
37 deafness, autosomal recessive 7 10.3 MYO15A GJB2 CDH23
38 usher syndrome, type ik 10.3 PCDH15 CLRN1 CIB2 CDH23
39 deafness, autosomal recessive 3 10.3 MYO7A MYO15A GJB2
40 usher syndrome, type iiib 10.2 WHRN USH1G MYO7A CLRN1
41 deafness, autosomal recessive 84a 10.2 PTPRQ CDH23
42 deafness, autosomal recessive 21 10.2 MYO15A GJB2
43 deafness, autosomal dominant 56 10.2 WHRN USH2A GJB2
44 inner ear disease 10.2 MYO7A GJB2 CDH23
45 deafness, autosomal recessive 67 10.2 PCDH15 LHFPL5
46 pendred syndrome 10.2 MYO15A GJB2 CDH23
47 deafness, autosomal recessive 9 10.2 MYO7A MYO15A GJB2
48 deafness, autosomal dominant 3b 10.2 PTPRQ GJB2
49 deafness, autosomal recessive 30 10.2 WHRN PCDH15 MYO7A MYO15A
50 non-syndromic genetic deafness 10.2 USH2A MYO15A GJB2

Graphical network of the top 20 diseases related to Usher Syndrome, Type Id:



Diseases related to Usher Syndrome, Type Id

Symptoms & Phenotypes for Usher Syndrome, Type Id

Human phenotypes related to Usher Syndrome, Type Id:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 rod-cone dystrophy 31 HP:0000510
3 vestibular dysfunction 31 HP:0001751

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
vestibular dysfunction
hearing loss, congenital profound

Head And Neck Eyes:
retinitis pigmentosa

Clinical features from OMIM:

601067

MGI Mouse Phenotypes related to Usher Syndrome, Type Id:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ADGRV1 CDH23 CEP250 CIB2 CLRN1 LHFPL5
2 hearing/vestibular/ear MP:0005377 10.09 ADGRV1 CDH23 CEP250 CIB2 CLRN1 GJB2
3 nervous system MP:0003631 9.89 ADGRV1 CDH23 CEP250 CIB2 CLRN1 GJB2
4 vision/eye MP:0005391 9.47 ADGRV1 CDH23 CEP250 CIB2 CLRN1 GJB2

Drugs & Therapeutics for Usher Syndrome, Type Id

Search Clinical Trials , NIH Clinical Center for Usher Syndrome, Type Id

Genetic Tests for Usher Syndrome, Type Id

Genetic tests related to Usher Syndrome, Type Id:

# Genetic test Affiliating Genes
1 Usher Syndrome, Type 1d 29 CDH23 PCDH15
2 Usher Syndrome, Type 1d/f Digenic 29

Anatomical Context for Usher Syndrome, Type Id

MalaCards organs/tissues related to Usher Syndrome, Type Id:

40
Retina, Eye, Testes

Publications for Usher Syndrome, Type Id

Articles related to Usher Syndrome, Type Id:

(show all 31)
# Title Authors PMID Year
1
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. 61 56 6
11138009 2001
2
Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. 56 6
15537665 2005
3
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. 61 6
12075507 2002
4
Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. 61 56
11138008 2001
5
Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. 61 56
8894709 1996
6
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. 56
21940737 2011
7
Clinical utility gene card for: Usher syndrome. 6
21697857 2011
8
Carrier testing for severe childhood recessive diseases by next-generation sequencing. 6
21228398 2011
9
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. 6
15660226 2005
10
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. 6
11090341 2001
11
Usher Syndrome Type I 6
20301442 1999
12
Usher syndrome: an otoneurologic study. 56
2909824 1989
13
A novel splice-site variant in CDH23 in a patient with Usher syndrome type 1. 61
31755791 2019
14
Triple Vectors Expand AAV Transfer Capacity in the Retina. 61
29292161 2018
15
CDH23 Related Hearing Loss: A New Genetic Risk Factor for Semicircular Canal Dehiscence? 61
27631835 2016
16
Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23. 61
26878454 2016
17
Compound heterozygosity of the functionally null Cdh23(v-ngt) and hypomorphic Cdh23(ahl) alleles leads to early-onset progressive hearing loss in mice. 61
24172198 2013
18
An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice. 61
21689626 2011
19
Ca2+ homeostasis defects and hereditary hearing loss. 61
21698697 2011
20
Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D. 61
19756182 2009
21
A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells. 61
19270079 2009
22
Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. 61
18429043 2008
23
Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing. 61
18273900 2008
24
Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss. 61
17850630 2007
25
Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies. 61
16288196 2005
26
Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12). 61
15353998 2004
27
Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration. 61
14609561 2003
28
Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D. 61
11857743 2002
29
Clinical presentation of DFNB12 and Usher syndrome type 1D. 61
12408077 2002
30
Fine genetic and comparative mapping of the deafness mutation Ames waltzer on mouse chromosome 10. 61
9653653 1998
31
Genetic causes of hearing loss. 61
9484611 1998

Variations for Usher Syndrome, Type Id

ClinVar genetic disease variations for Usher Syndrome, Type Id:

6 (show top 50) (show all 56) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PCDH15 NM_033056.4(PCDH15):c.2971C>T (p.Arg991Ter)SNV Pathogenic 224747 rs754391973 10:55721550-55721550 10:53961790-53961790
2 CDH23 NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter)SNV Pathogenic 4921 rs121908350 10:73491908-73491908 10:71732151-71732151
3 CDH23 NM_022124.6(CDH23):c.4488G>C (p.Gln1496His)SNV Pathogenic 4915 rs121908347 10:73499529-73499529 10:71739772-71739772
4 CDH23 NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)SNV Pathogenic 4916 rs111033270 10:73539073-73539073 10:71779316-71779316
5 CDH23 NM_022124.6(CDH23):c.3839_3841TGA[1] (p.Met1281del)short repeat Pathogenic 4917 rs796051860 10:73491866-73491868 10:71732109-71732111
6 CDH23 NM_022124.6(CDH23):c.7362+5G>ASNV Pathogenic 4918 rs727502931 10:73559391-73559391 10:71799634-71799634
7 CDH23 NM_022124.6(CDH23):c.193del (p.Leu65fs)deletion Pathogenic 4925 rs796051861 10:73269882-73269882 10:71510125-71510125
8 PCDH15 NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter)SNV Pathogenic 4933 rs111033260 10:56077174-56077174 10:54317414-54317414
9 PCDH15 PCDH15, 3-BP DEL, 5601AACdeletion Pathogenic 4934
10 CDH23 NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter)SNV Pathogenic 45943 rs397517329 10:73498354-73498354 10:71738597-71738597
11 CDH23 NM_022124.6(CDH23):c.6050-9G>ASNV Pathogenic 46001 rs367928692 10:73550880-73550880 10:71791123-71791123
12 CDH23 NM_022124.6(CDH23):c.1987-1G>ASNV Pathogenic 397608 rs1060499714 10:73447403-73447403 10:71687646-71687646
13 CDH23 NM_022124.6(CDH23):c.2289+1G>ASNV Pathogenic 504507 rs769433759 10:73454017-73454017 10:71694260-71694260
14 CDH23 NM_022124.6(CDH23):c.3428dup (p.His1143fs)duplication Pathogenic 560433 rs1253419936 10:73483859-73483860 10:71724102-71724103
15 CDH23 NM_022124.6(CDH23):c.6285dup (p.Glu2096Ter)duplication Pathogenic 560434 rs1564796487 10:73552969-73552970 10:71793212-71793213
16 CDH23 NM_022124.6(CDH23):c.945+1G>ASNV Pathogenic 585305 rs727502919 10:73375374-73375374 10:71615617-71615617
17 CDH23 NM_022124.6(CDH23):c.4210-2A>GSNV Pathogenic 585306 rs557620034 10:73498253-73498253 10:71738496-71738496
18 CDH23 NM_022124.6(CDH23):c.6000C>A (p.Tyr2000Ter)SNV Pathogenic 599084 rs1564794944 10:73550121-73550121 10:71790364-71790364
19 CDH23 NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter)SNV Pathogenic 693998 10:73453933-73453933 10:71694176-71694176
20 CDH23 NM_022124.6(CDH23):c.8239del (p.Val2747fs)deletion Pathogenic 522713 rs1554877007 10:73567094-73567094 10:71807337-71807337
21 PCDH15 NM_033056.4(PCDH15):c.16del (p.Tyr6fs)deletion Pathogenic/Likely pathogenic 46446 rs397517451 10:56424007-56424007 10:54664247-54664247
22 PCDH15 NM_033056.4(PCDH15):c.3316C>T (p.Arg1106Ter)SNV Pathogenic/Likely pathogenic 46464 rs202033121 10:55698632-55698632 10:53938872-53938872
23 CDH23 NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)SNV Likely pathogenic 46000 rs183431253 10:73550170-73550170 10:71790413-71790413
24 PCDH15 NM_001142763.1:c.-189197_c.610-5166deldeletion Likely pathogenic 224748
25 CDH23 NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln)SNV Likely pathogenic 522663 rs547034667 10:73567342-73567342 10:71807585-71807585
26 CDH23 NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn)SNV Likely pathogenic 522662 rs1554857840 10:73461791-73461791 10:71702034-71702034
27 CDH23 , PSAP NM_022124.6(CDH23):c.9510+19_9510+25deldeletion Conflicting interpretations of pathogenicity 133306 rs149704197 10:73572382-73572388 10:71812625-71812631
28 PCDH15 NM_033056.4(PCDH15):c.1205G>C (p.Gly402Ala)SNV Conflicting interpretations of pathogenicity 281800 rs145017164 10:55955543-55955543 10:54195783-54195783
29 CDH23 NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)SNV Conflicting interpretations of pathogenicity 46076 rs111033536 10:73572583-73572583 10:71812826-71812826
30 PCDH15 NM_033056.4(PCDH15):c.1900G>A (p.Val634Ile)SNV Conflicting interpretations of pathogenicity 300192 rs146199636 10:55892652-55892652 10:54132892-54132892
31 CDH23 NM_022124.6(CDH23):c.1450-10G>ASNV Conflicting interpretations of pathogenicity 505355 rs751220612 10:73434859-73434859 10:71675102-71675102
32 CDH23 NM_022124.6(CDH23):c.1515-12G>ASNV Conflicting interpretations of pathogenicity 228484 rs369396703 10:73437201-73437201 10:71677444-71677444
33 CDH23 NM_022124.6(CDH23):c.2236G>A (p.Val746Ile)SNV Conflicting interpretations of pathogenicity 162894 rs550384315 10:73453963-73453963 10:71694206-71694206
34 CDH23 NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)SNV Conflicting interpretations of pathogenicity 166811 rs201053044 10:73466722-73466722 10:71706965-71706965
35 CDH23 NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)SNV Conflicting interpretations of pathogenicity 46021 rs201434373 10:73558192-73558192 10:71798435-71798435
36 PCDH15 NM_033056.4(PCDH15):c.3817C>A (p.Arg1273Ser)SNV Conflicting interpretations of pathogenicity 46475 rs111033363 10:55600246-55600246 10:53840486-53840486
37 CDH23 NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr)SNV Conflicting interpretations of pathogenicity 45964 rs397517334 10:73537657-73537657 10:71777900-71777900
38 CDH23 NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp)SNV Conflicting interpretations of pathogenicity 45977 rs376271562 10:73544085-73544085 10:71784328-71784328
39 CDH23 NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)SNV Conflicting interpretations of pathogenicity 45891 rs181255269 10:73453990-73453990 10:71694233-71694233
40 CDH23 NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)SNV Uncertain significance 45912 rs200632520 10:73472463-73472463 10:71712706-71712706
41 CDH23 NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp)SNV Uncertain significance 45934 rs201877610 10:73492014-73492014 10:71732257-71732257
42 CDH23 NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val)SNV Uncertain significance 45947 rs374362883 10:73499432-73499432 10:71739675-71739675
43 CDH23 NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu)SNV Uncertain significance 96026 rs371522435 10:73558330-73558330 10:71798573-71798573
44 CDH23 NM_022124.6(CDH23):c.3929C>A (p.Ala1310Asp)SNV Uncertain significance 133304 rs483353051 10:73491957-73491957 10:71732200-71732200
45 CDH23 NM_022124.6(CDH23):c.4104+4A>TSNV Uncertain significance 133305 rs483353052 10:73492136-73492136 10:71732379-71732379
46 CDH23 NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)SNV Uncertain significance 46032 rs41281336 10:73560498-73560498 10:71800741-71800741
47 PCDH15 NM_033056.4(PCDH15):c.2102C>T (p.Ala701Val)SNV Uncertain significance 164921 rs199537178 10:55826635-55826635 10:54066875-54066875
48 CDH23 NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)SNV Uncertain significance 198370 rs140884994 10:73572538-73572538 10:71812781-71812781
49 CDH23 NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln)SNV Uncertain significance 198641 rs562525508 10:73575006-73575006 10:71815249-71815249
50 CDH23 NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp)SNV Uncertain significance 178685 rs373276722 10:73492028-73492028 10:71732271-71732271

UniProtKB/Swiss-Prot genetic disease variations for Usher Syndrome, Type Id:

73 (show all 26)
# Symbol AA change Variation ID SNP ID
1 CDH23 p.Gln1496His VAR_012174 rs121908347
2 CDH23 p.Arg1746Gln VAR_012178 rs111033270
3 CDH23 p.Ala366Thr VAR_024030 rs143282422
4 CDH23 p.Thr1209Ala VAR_024031 rs41281314
5 CDH23 p.Arg1507Gln VAR_024032 rs373480195
6 CDH23 p.Arg3189Trp VAR_024033 rs121908353
7 CDH23 p.Ser3245Phe VAR_024034
8 CDH23 p.Glu247Lys VAR_027318
9 CDH23 p.Ala484Pro VAR_027321
10 CDH23 p.Pro1206Arg VAR_027325
11 CDH23 p.Gly2017Ser VAR_027334 rs183431253
12 CDH23 p.Ser2517Gly VAR_027340 rs759093040
13 CDH23 p.Gly2744Ser VAR_027342 rs376189742
14 CDH23 p.Arg2833Gly VAR_027343 rs760130862
15 CDH23 p.Arg3175His VAR_027347 rs140884994
16 CDH23 p.His755Tyr VAR_046407 rs181255269
17 CDH23 p.Val1090Ile VAR_046410 rs368487578
18 CDH23 p.Asn1098Ser VAR_046411 rs41281310
19 CDH23 p.Pro1788Leu VAR_046419 rs564555435
20 CDH23 p.Arg1912Trp VAR_046423 rs397517344
21 CDH23 p.Asp1930Asn VAR_046424
22 CDH23 p.Asp2376Val VAR_046429
23 CDH23 p.Thr2530Ile VAR_046432 rs781406146
24 CDH23 p.Gly2771Ser VAR_046434 rs201076440
25 CDH23 p.Val2968Ala VAR_046437 rs765847991
26 PCDH15 p.Asp178Gly VAR_069297

Expression for Usher Syndrome, Type Id

Search GEO for disease gene expression data for Usher Syndrome, Type Id.

Pathways for Usher Syndrome, Type Id

GO Terms for Usher Syndrome, Type Id

Cellular components related to Usher Syndrome, Type Id according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.37 WHRN VEZT USH2A USH1G USH1C PDZD7
2 cell projection GO:0042995 10.16 WHRN VEZT USH2A USH1C STRC PDZD7
3 photoreceptor outer segment GO:0001750 9.88 USH1C PCDH15 MYO7A CIB2 CEP250
4 cilium GO:0005929 9.86 WHRN PDZD7 CIB2 CEP250
5 ciliary basal body GO:0036064 9.84 WHRN USH2A USH1G CEP250
6 stereocilium tip GO:0032426 9.8 WHRN USH1C STRC PDZD7 LHFPL5
7 photoreceptor connecting cilium GO:0032391 9.8 WHRN USH2A USH1G USH1C PDZD7 MYO7A
8 stereocilium bundle GO:0032421 9.73 WHRN USH2A PTPRQ MYO15A
9 microvillus GO:0005902 9.72 USH1C MYO7A CLRN1
10 periciliary membrane compartment GO:1990075 9.69 WHRN USH2A ADGRV1
11 stereocilium membrane GO:0060171 9.67 VEZT USH2A ADGRV1
12 USH2 complex GO:1990696 9.67 WHRN USH2A PDZD7 ADGRV1
13 stereocilia ankle link GO:0002141 9.65 WHRN USH2A USH1C PDZD7 ADGRV1
14 stereocilia ankle link complex GO:0002142 9.63 WHRN VEZT USH2A USH1C PDZD7 ADGRV1
15 photoreceptor inner segment GO:0001917 9.61 WHRN USH2A USH1G USH1C PDZD7 MYO7A
16 stereocilium GO:0032420 9.36 WHRN USH1C STRC PDZD7 PCDH15 MYO7A

Biological processes related to Usher Syndrome, Type Id according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.93 USH2A PCDH15 MYO7A CLRN1 CDH23 ADGRV1
2 inner ear receptor cell stereocilium organization GO:0060122 9.91 WHRN USH1G USH1C PCDH15 MYO7A CDH23
3 equilibrioception GO:0050957 9.88 USH1G USH1C PCDH15 MYO7A CLRN1 CDH23
4 auditory receptor cell stereocilium organization GO:0060088 9.87 WHRN STRC PDZD7 PCDH15 MYO7A LHFPL5
5 cell-cell adhesion GO:0098609 9.85 VEZT CDH23 CDH17 ADGRV1
6 inner ear development GO:0048839 9.83 PCDH15 MYO7A GJB2 ADGRV1
7 inner ear morphogenesis GO:0042472 9.83 USH1G USH1C PTPRQ MYO7A MYO15A
8 establishment of protein localization GO:0045184 9.81 WHRN USH2A PDZD7 ADGRV1
9 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.8 WHRN STRC PTPRQ PDZD7 PCDH15 LHFPL5
10 photoreceptor cell maintenance GO:0045494 9.76 USH2A USH1G USH1C PCDH15 CLRN1 CIB2
11 locomotory behavior GO:0007626 9.74 PCDH15 MYO15A CDH23
12 inner ear receptor cell differentiation GO:0060113 9.67 USH2A USH1G MYO7A
13 inner ear auditory receptor cell differentiation GO:0042491 9.65 USH1C PCDH15 MYO7A
14 sensory perception of light stimulus GO:0050953 9.61 WHRN USH2A USH1G USH1C PCDH15 MYO7A
15 auditory receptor cell development GO:0060117 9.56 PDZD7 CLRN1
16 maintenance of animal organ identity GO:0048496 9.54 USH2A ADGRV1
17 sensory perception of sound GO:0007605 9.44 WHRN USH2A USH1G USH1C STRC PDZD7

Molecular functions related to Usher Syndrome, Type Id according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.63 PCDH15 GJB2 CIB2 CDH23 CDH17 ADGRV1
2 myosin binding GO:0017022 9.26 VEZT USH2A
3 protein homodimerization activity GO:0042803 9.23 WHRN USH2A USH1G PDZD7 MYO7A CIB2
4 spectrin binding GO:0030507 9.13 USH1G USH1C MYO7A

Sources for Usher Syndrome, Type Id

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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