USH1D
MCID: USH040
MIFTS: 42

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 58 74
Usher Syndrome, Type 1d 58 77 54 30 13 6 41
Ush1d 58 12 54 76
Usher Syndrome Type 1d 12 15
Usher Syndrome Type Id 12 76
Usher Syndrome, Type Id/f, Digenic 6
Usher Syndrome, Type 1d/f Digenic 58
Usher's Syndrome Type 1d 76
Usher's Syndrome Type 1h 76
Usher Syndrome Type Ih 76
Usher Syndrome 1d/f 76
Usher Syndrome 1d 76
Usher Syndrome 1h 76
Ush1d/f 76
Ush1df 76

Characteristics:

OMIM:

58
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:

33
usher syndrome, type id:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110831
OMIM 58 601067
MeSH 45 D052245
ICD10 34 H35.5
UMLS 74 C1832845

Summaries for Usher Syndrome, Type Id

OMIM : 58 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)

MalaCards based summary : Usher Syndrome, Type Id, also known as usher syndrome, type 1d, is related to deafness, autosomal recessive 12 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.

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 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 2 Usher Syndrome, Type 2b

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 12 30.1 CDH23 MYO7A PCDH15
2 retinitis pigmentosa-deafness syndrome 28.9 ADGRV1 CDH23 MYO7A PCDH15 USH2A
3 usher syndrome 28.1 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
4 usher syndrome, type ih 12.5
5 deafness, autosomal recessive 10.2 PCDH15 USH1C
6 deafness, autosomal recessive 85 10.1 CDH23 MYO7A
7 dfnb1 10.1 MYO7A PCDH15
8 deafness, autosomal recessive 83 10.1 CDH23 MYO7A
9 autosomal recessive nonsyndromic deafness 3 10.1 CDH23 MYO7A
10 deafness, autosomal dominant 6 10.1 CDH23 MYO7A
11 deafness, autosomal dominant 20 10.0 USH1C USH1G
12 inner ear disease 10.0 CDH23 MYO7A
13 deafness, autosomal recessive 23 10.0 CDH23 MYO7A PCDH15
14 usher syndrome, type ic 9.9 CDH23 MYO7A USH1C
15 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.9 CDH23 MYO7A
16 usher syndrome, type iia 9.9 USH1C USH2A
17 yemenite deaf-blind hypopigmentation syndrome 9.8 MYO7A USH2A
18 deafness, autosomal dominant 13 9.7 MYO7A USH2A
19 auditory system disease 9.7 CDH23 MYO7A PCDH15 USH1C
20 bardet-biedl syndrome 9.7 CDH23 MYO7A PCDH15 USH1C
21 usher syndrome, type ig 9.7 CDH23 MYO7A PCDH15 USH1G
22 fundus dystrophy 9.6 CDHR1 MYO7A USH2A
23 autosomal genetic disease 9.5 MYO7A USH2A
24 deafness, autosomal recessive 6 9.5 ADGRV1 MYO7A USH2A
25 sensorineural hearing loss 9.5 CDH23 MYO7A PCDH15 USH2A
26 usher syndrome, type if 9.4 CDH23 MYO7A PCDH15 USH1C USH1G
27 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.4 CDH23 MYO7A PCDH15 USH1C USH1G
28 branchiootic syndrome 1 9.4 CDH23 MYO7A USH1G USH2A
29 usher syndrome, type i 8.6 USH1C PCDH15 MYO7A CDH23 ADGRV1 USH1G
30 usher syndrome, type iiia 8.6 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
31 usher syndrome, type iic 8.6 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
32 usher syndrome, type iid 8.6 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
33 usher syndrome type 2 8.6 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
34 nonsyndromic deafness 8.6 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
35 retinitis pigmentosa 8.3 ADGRV1 CDH23 CDHR1 MYO7A PCDH15 USH1C

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:

33
# Description HPO Frequency HPO Source Accession
1 hearing impairment 33 HP:0000365
2 rod-cone dystrophy 33 HP:0000510
3 vestibular dysfunction 33 HP:0001751

Symptoms via clinical synopsis from OMIM:

58
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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
2 hearing/vestibular/ear MP:0005377 9.7 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
3 nervous system MP:0003631 9.5 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
4 vision/eye MP:0005391 9.23 ADGRV1 CDH23 CDHR1 MYO7A PCDH15 USH1C

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 30 CDH23 PCDH15

Anatomical Context for Usher Syndrome, Type Id

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

42
Retina, Eye, Testes

Publications for Usher Syndrome, Type Id

Articles related to Usher Syndrome, Type Id:

(show all 12)
# Title Authors Year
1
Clinical utility gene card for: Usher syndrome. ( 21697857 )
2011
2
Carrier testing for severe childhood recessive diseases by next-generation sequencing. ( 21228398 )
2011
3
Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D. ( 19756182 )
2009
4
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. ( 15660226 )
2005
5
Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. ( 15537665 )
2005
6
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. ( 12075507 )
2002
7
Clinical presentation of DFNB12 and Usher syndrome type 1D. ( 12408077 )
2002
8
Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D. ( 11857743 )
2002
9
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. ( 11090341 )
2001
10
Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. ( 11138008 )
2001
11
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. ( 11138009 )
2001
12
Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. ( 8894709 )
1996

Variations for Usher Syndrome, Type Id

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

76 (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
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

ClinVar genetic disease variations for Usher Syndrome, Type Id:

6 (show top 50) (show all 168)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDH23 NM_022124.5(CDH23): c.4488G> C (p.Gln1496His) single nucleotide variant Pathogenic rs121908347 GRCh37 Chromosome 10, 73499529: 73499529
2 CDH23 NM_022124.5(CDH23): c.4488G> C (p.Gln1496His) single nucleotide variant Pathogenic rs121908347 GRCh38 Chromosome 10, 71739772: 71739772
3 CDH23 NM_022124.5(CDH23): c.5237G> A (p.Arg1746Gln) single nucleotide variant Pathogenic rs111033270 GRCh37 Chromosome 10, 73539073: 73539073
4 CDH23 NM_022124.5(CDH23): c.5237G> A (p.Arg1746Gln) single nucleotide variant Pathogenic rs111033270 GRCh38 Chromosome 10, 71779316: 71779316
5 CDH23 NM_022124.5(CDH23): c.3842_3844delTGA (p.Met1281del) deletion Pathogenic rs796051860 GRCh37 Chromosome 10, 73491870: 73491872
6 CDH23 NM_022124.5(CDH23): c.3842_3844delTGA (p.Met1281del) deletion Pathogenic rs796051860 GRCh38 Chromosome 10, 71732113: 71732115
7 CDH23 NM_022124.5(CDH23): c.7362+5G> A single nucleotide variant Pathogenic rs727502931 GRCh37 Chromosome 10, 73559391: 73559391
8 CDH23 NM_022124.5(CDH23): c.7362+5G> A single nucleotide variant Pathogenic rs727502931 GRCh38 Chromosome 10, 71799634: 71799634
9 CDH23 NM_022124.5(CDH23): c.3880C> T (p.Gln1294Ter) single nucleotide variant Pathogenic rs121908350 GRCh37 Chromosome 10, 73491908: 73491908
10 CDH23 NM_022124.5(CDH23): c.3880C> T (p.Gln1294Ter) single nucleotide variant Pathogenic rs121908350 GRCh38 Chromosome 10, 71732151: 71732151
11 CDH23 NM_022124.5(CDH23): c.6442G> A (p.Asp2148Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs111033271 GRCh37 Chromosome 10, 73553127: 73553127
12 CDH23 NM_022124.5(CDH23): c.6442G> A (p.Asp2148Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs111033271 GRCh38 Chromosome 10, 71793370: 71793370
13 CDH23 NM_022124.5(CDH23): c.193delC (p.Leu65Trpfs) deletion Pathogenic rs796051861 GRCh37 Chromosome 10, 73269886: 73269886
14 CDH23 NM_022124.5(CDH23): c.193delC (p.Leu65Trpfs) deletion Pathogenic rs796051861 GRCh38 Chromosome 10, 71510129: 71510129
15 CDH23 NM_022124.5(CDH23): c.9565C> T (p.Arg3189Trp) single nucleotide variant Uncertain significance rs121908353 GRCh37 Chromosome 10, 73572579: 73572579
16 CDH23 NM_022124.5(CDH23): c.9565C> T (p.Arg3189Trp) single nucleotide variant Uncertain significance rs121908353 GRCh38 Chromosome 10, 71812822: 71812822
17 CDH23 NM_022124.5(CDH23): c.3625A> G (p.Thr1209Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs41281314 GRCh37 Chromosome 10, 73490271: 73490271
18 CDH23 NM_022124.5(CDH23): c.3625A> G (p.Thr1209Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs41281314 GRCh38 Chromosome 10, 71730514: 71730514
19 PCDH15 NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs111033260 GRCh37 Chromosome 10, 56077174: 56077174
20 PCDH15 NM_033056.3(PCDH15): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs111033260 GRCh38 Chromosome 10, 54317414: 54317414
21 PCDH15 PCDH15, 3-BP DEL, 5601AAC deletion Pathogenic
22 CDH23 NM_022124.5(CDH23): c.1246_1266del (p.Ala416_Glu422del) deletion Likely pathogenic rs397517305 GRCh37 Chromosome 10, 73405693: 73405713
23 CDH23 NM_022124.5(CDH23): c.1246_1266del (p.Ala416_Glu422del) deletion Likely pathogenic rs397517305 GRCh38 Chromosome 10, 71645936: 71645956
24 CDH23 NM_022124.5(CDH23): c.2012delT (p.Phe671Serfs) deletion Pathogenic rs397517313 GRCh37 Chromosome 10, 73447429: 73447429
25 CDH23 NM_022124.5(CDH23): c.2012delT (p.Phe671Serfs) deletion Pathogenic rs397517313 GRCh38 Chromosome 10, 71687672: 71687672
26 CDH23 NM_022124.5(CDH23): c.2263C> T (p.His755Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs181255269 GRCh37 Chromosome 10, 73453990: 73453990
27 CDH23 NM_022124.5(CDH23): c.2263C> T (p.His755Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs181255269 GRCh38 Chromosome 10, 71694233: 71694233
28 CDH23 NM_022124.5(CDH23): c.3262G> A (p.Val1088Met) single nucleotide variant Uncertain significance rs200632520 GRCh37 Chromosome 10, 73472463: 73472463
29 CDH23 NM_022124.5(CDH23): c.3262G> A (p.Val1088Met) single nucleotide variant Uncertain significance rs200632520 GRCh38 Chromosome 10, 71712706: 71712706
30 CDH23 NM_022124.5(CDH23): c.3481C> T (p.Arg1161Ter) single nucleotide variant Pathogenic rs397517323 GRCh37 Chromosome 10, 73485179: 73485179
31 CDH23 NM_022124.5(CDH23): c.3481C> T (p.Arg1161Ter) single nucleotide variant Pathogenic rs397517323 GRCh38 Chromosome 10, 71725422: 71725422
32 CDH23 NM_022124.5(CDH23): c.3628C> T (p.Gln1210Ter) single nucleotide variant Pathogenic rs397517326 GRCh37 Chromosome 10, 73490274: 73490274
33 CDH23 NM_022124.5(CDH23): c.3628C> T (p.Gln1210Ter) single nucleotide variant Pathogenic rs397517326 GRCh38 Chromosome 10, 71730517: 71730517
34 CDH23 NM_022124.5(CDH23): c.3706C> T (p.Arg1236Ter) single nucleotide variant Pathogenic rs397517327 GRCh37 Chromosome 10, 73490352: 73490352
35 CDH23 NM_022124.5(CDH23): c.3706C> T (p.Arg1236Ter) single nucleotide variant Pathogenic rs397517327 GRCh38 Chromosome 10, 71730595: 71730595
36 CDH23 NM_022124.5(CDH23): c.3986G> A (p.Gly1329Asp) single nucleotide variant Uncertain significance rs201877610 GRCh37 Chromosome 10, 73492014: 73492014
37 CDH23 NM_022124.5(CDH23): c.3986G> A (p.Gly1329Asp) single nucleotide variant Uncertain significance rs201877610 GRCh38 Chromosome 10, 71732257: 71732257
38 CDH23 NM_022124.5(CDH23): c.4309C> T (p.Arg1437Ter) single nucleotide variant Pathogenic rs397517329 GRCh37 Chromosome 10, 73498354: 73498354
39 CDH23 NM_022124.5(CDH23): c.4309C> T (p.Arg1437Ter) single nucleotide variant Pathogenic rs397517329 GRCh38 Chromosome 10, 71738597: 71738597
40 CDH23 NM_022124.5(CDH23): c.4391C> T (p.Ala1464Val) single nucleotide variant Uncertain significance rs374362883 GRCh37 Chromosome 10, 73499432: 73499432
41 CDH23 NM_022124.5(CDH23): c.4391C> T (p.Ala1464Val) single nucleotide variant Uncertain significance rs374362883 GRCh38 Chromosome 10, 71739675: 71739675
42 CDH23 NM_022124.5(CDH23): c.46delG (p.Val16Cysfs) deletion Pathogenic rs397517331 GRCh37 Chromosome 10, 73199634: 73199634
43 CDH23 NM_022124.5(CDH23): c.46delG (p.Val16Cysfs) deletion Pathogenic rs397517331 GRCh38 Chromosome 10, 71439877: 71439877
44 CDH23 NM_022124.5(CDH23): c.5272C> T (p.Gln1758Ter) single nucleotide variant Pathogenic rs397517337 GRCh37 Chromosome 10, 73539108: 73539108
45 CDH23 NM_022124.5(CDH23): c.5272C> T (p.Gln1758Ter) single nucleotide variant Pathogenic rs397517337 GRCh38 Chromosome 10, 71779351: 71779351
46 CDH23 NM_022124.5(CDH23): c.5410C> T (p.Arg1804Trp) single nucleotide variant Uncertain significance rs376271562 GRCh37 Chromosome 10, 73544085: 73544085
47 CDH23 NM_022124.5(CDH23): c.5410C> T (p.Arg1804Trp) single nucleotide variant Uncertain significance rs376271562 GRCh38 Chromosome 10, 71784328: 71784328
48 CDH23 NM_022124.5(CDH23): c.5712+1G> A single nucleotide variant Pathogenic rs397517341 GRCh37 Chromosome 10, 73544858: 73544858
49 CDH23 NM_022124.5(CDH23): c.5712+1G> A single nucleotide variant Pathogenic rs397517341 GRCh38 Chromosome 10, 71785101: 71785101
50 CDH23 NM_022124.5(CDH23): c.5712G> A (p.Thr1904=) single nucleotide variant Pathogenic rs397517342 GRCh37 Chromosome 10, 73544857: 73544857

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:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.98 ADGRV1 CDH23 CDHR1 PCDH15 USH1C USH1G
2 synapse GO:0045202 9.71 ADGRV1 MYO7A PCDH15 USH1C
3 photoreceptor outer segment GO:0001750 9.54 MYO7A PCDH15 USH1C
4 microvillus GO:0005902 9.46 MYO7A USH1C
5 photoreceptor inner segment GO:0001917 9.46 MYO7A USH1C USH1G USH2A
6 stereocilia ankle link GO:0002141 9.32 USH1C USH2A
7 stereocilia ankle link complex GO:0002142 9.26 USH1C USH2A
8 photoreceptor connecting cilium GO:0032391 9.26 MYO7A USH1C USH1G USH2A
9 stereocilium GO:0032420 9.02 ADGRV1 CDH23 MYO7A PCDH15 USH1C

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.8 ADGRV1 CDH23 MYO7A PCDH15 USH2A
2 sensory perception of sound GO:0007605 9.8 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
3 inner ear receptor cell stereocilium organization GO:0060122 9.72 CDH23 MYO7A PCDH15 USH1C USH1G
4 photoreceptor cell maintenance GO:0045494 9.7 ADGRV1 CDH23 CDHR1 PCDH15 USH1C USH1G
5 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.69 CDH23 CDHR1 PCDH15
6 inner ear morphogenesis GO:0042472 9.63 MYO7A USH1C USH1G
7 inner ear auditory receptor cell differentiation GO:0042491 9.61 MYO7A PCDH15 USH1C
8 locomotory behavior GO:0007626 9.54 CDH23 PCDH15
9 inner ear receptor cell differentiation GO:0060113 9.54 MYO7A USH1G USH2A
10 inner ear development GO:0048839 9.52 MYO7A PCDH15
11 sensory perception of light stimulus GO:0050953 9.5 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
12 auditory receptor cell stereocilium organization GO:0060088 9.49 MYO7A PCDH15
13 maintenance of animal organ identity GO:0048496 9.48 ADGRV1 USH2A
14 equilibrioception GO:0050957 9.02 CDH23 MYO7A PCDH15 USH1C USH1G

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 9.26 ADGRV1 CDH23 CDHR1 PCDH15
2 spectrin binding GO:0030507 8.8 MYO7A USH1C USH1G

Sources for Usher Syndrome, Type Id

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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