USH2D
MCID: USH021
MIFTS: 42

Usher Syndrome, Type Iid (USH2D)

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

Aliases & Classifications for Usher Syndrome, Type Iid

MalaCards integrated aliases for Usher Syndrome, Type Iid:

Name: Usher Syndrome, Type Iid 57
Usher Syndrome, Type 2d 57 29 13 6 39
Ush2d 57 12 72
Usher Syndrome Type 2d 12 15
Usher Syndrome Type Iid 12
Usher Syndrome, Type Ii 70
Usher Syndrome 2d 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset of vision loss in young adulthood (<20 years)


HPO:

31
usher syndrome, type iid:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110840
OMIM® 57 611383
OMIM Phenotypic Series 57 PS276900
MeSH 44 D052245
ICD10 32 H35.5
MedGen 41 C1568249
UMLS 70 C1568249

Summaries for Usher Syndrome, Type Iid

OMIM® : 57 Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes (Eudy et al., 1998). See 276900 for clinical characterization of Usher syndrome types I, II, and III. For a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A (276901). (611383) (Updated 05-Apr-2021)

MalaCards based summary : Usher Syndrome, Type Iid, also known as usher syndrome, type 2d, is related to yemenite deaf-blind hypopigmentation syndrome and retinal degeneration. An important gene associated with Usher Syndrome, Type Iid is WHRN (Whirlin). Affiliated tissues include retina, eye and bone, and related phenotypes are hearing impairment and blindness

Disease Ontology : 12 An Usher syndrome type 2 that has material basis in by homozygous or compound heterozygous mutation in the WHRN gene on chromosome 9q32.

UniProtKB/Swiss-Prot : 72 Usher syndrome 2D: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and 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). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.

Related Diseases for Usher Syndrome, Type Iid

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 Iid via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 yemenite deaf-blind hypopigmentation syndrome 30.0 USH2A MYO7A
2 retinal degeneration 29.7 USH2A USH1C MYO7A CDH23
3 deafness, autosomal recessive 31 29.3 WHRN USH2A PDZD7 CLRN1 CIB2 ADGRV1
4 branchiootic syndrome 1 29.0 WHRN USH2A USH1G MYO7A EPS8 CDH23
5 retinitis pigmentosa-deafness syndrome 28.4 WHRN USH2A USH1G USH1C PCDH15 MYO7A
6 usher syndrome 25.8 WHRN VEZT USH2A USH1G USH1C PDZD7
7 deafness, autosomal dominant 56 10.3 WHRN USH2A
8 deafness, autosomal dominant 65 10.3 WHRN PCDH15
9 nonsyndromic retinitis pigmentosa 10.3 USH2A CLRN1
10 deafness, autosomal recessive 100 10.2 MYO7A ADGRV1
11 acute hemorrhagic leukoencephalitis 10.2 USH1G CDH23
12 rare deafness 10.2 PCDH15 CDH23
13 dfnb1 10.2 PCDH15 MYO7A
14 deafness, autosomal recessive 62 10.2 CDH23 ADGRV1
15 y-linked monogenic disease 10.2 PCDH15 CDH23
16 deafness, autosomal recessive 3 10.2 MYO7A MYO15A
17 autosomal recessive nonsyndromic deafness 36 10.2 WHRN USH1C PCDH15
18 late-onset retinal degeneration 10.2 WHRN USH2A ADGRV1
19 deafness, autosomal recessive 79 10.1 WHRN MYO15A
20 deafness, autosomal dominant 20 10.1 USH1G CDH23
21 deafness, autosomal recessive 67 10.1 PCDH15 CIB2
22 deafness, autosomal recessive 86 10.1 WHRN PCDH15 CDH23
23 deafness, autosomal dominant 17 10.1 MYO7A MYO15A
24 deafness, autosomal recessive 16 10.1 MYO15A CDH23
25 deafness, autosomal recessive 37 10.1 MYO7A MYO15A
26 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 10.0 PCDH15 CDH23
27 deafness, autosomal dominant 22 10.0 MYO7A MYO15A
28 stargardt disease 10.0 USH2A MYO7A CLRN1
29 deafness, autosomal recessive 83 10.0 MYO7A MYO15A CDH23
30 deafness, autosomal dominant 36 10.0 PCDH15 MYO15A CDH23
31 deafness, autosomal dominant 6 10.0 MYO7A MYO15A CDH23
32 deafness, autosomal recessive 7 10.0 MYO7A MYO15A CDH23
33 stickler syndrome 10.0 WHRN USH1C PCDH15 CDH23
34 deafness, autosomal recessive 9 10.0 MYO7A MYO15A CDH23
35 pendred syndrome 10.0 MYO7A MYO15A CDH23
36 deafness, autosomal recessive 24 10.0 VEZT MYO15A
37 waardenburg's syndrome 9.9 MYO7A MYO15A CDH23
38 deafness, autosomal dominant 48 9.9 MYO7A MYO15A CIB2
39 deafness, autosomal dominant 1, with or without thrombocytopenia 9.9 MYO7A MYO15A
40 deafness, autosomal recessive 57 9.9 WHRN PDZD7 CIB2 ADGRV1
41 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
42 deafness, autosomal recessive 30 9.9 WHRN PCDH15 MYO7A MYO15A
43 usher syndrome, type ik 9.9 PCDH15 CLRN1 CIB2 CDH23
44 deafness, autosomal recessive 63 9.9 MYO7A MYO15A
45 deafness, autosomal recessive 48 9.9 WHRN PDZD7 MYO7A CIB2
46 choroid disease 9.9 USH2A MYO7A
47 vestibular disease 9.8 PCDH15 MYO7A MYO15A CDH23
48 non-syndromic genetic deafness 9.8 USH2A MYO7A MYO15A CDH23
49 deafness, autosomal recessive 102 9.8 WHRN MYO15A EPS8
50 autosomal recessive nonsyndromic deafness 9.7 WHRN PCDH15 MYO7A MYO15A CDH23

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



Diseases related to Usher Syndrome, Type Iid

Symptoms & Phenotypes for Usher Syndrome, Type Iid

Human phenotypes related to Usher Syndrome, Type Iid:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 blindness 31 HP:0000618
3 rod-cone dystrophy 31 HP:0000510

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
retinitis pigmentosa
bone-spicule pigmentation in midperiphery of retina
night vision blindness
cataract, subcapsular (in some patients)
waxy optic disc appearance
more
Head And Neck Ears:
no vestibular dysfunction
hearing loss, congenital, moderate

Clinical features from OMIM®:

611383 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Usher Syndrome, Type Iid:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 ADGRV1 CDH23 CEP250 CIB2 CLRN1 EPS8
2 hearing/vestibular/ear MP:0005377 10 ADGRV1 CDH23 CEP250 CIB2 CLRN1 EPS8
3 cellular MP:0005384 9.91 CDH23 CLRN1 EPS8 MYO15A MYO7A PCDH15
4 nervous system MP:0003631 9.86 ADGRV1 CDH23 CEP250 CIB2 CLRN1 EGFLAM
5 vision/eye MP:0005391 9.47 ADGRV1 CDH23 CEP250 CIB2 CLRN1 EGFLAM

Drugs & Therapeutics for Usher Syndrome, Type Iid

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

Genetic Tests for Usher Syndrome, Type Iid

Genetic tests related to Usher Syndrome, Type Iid:

# Genetic test Affiliating Genes
1 Usher Syndrome, Type 2d 29 WHRN

Anatomical Context for Usher Syndrome, Type Iid

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

40
Retina, Eye, Bone

Publications for Usher Syndrome, Type Iid

Articles related to Usher Syndrome, Type Iid:

# Title Authors PMID Year
1
Non-USH2A mutations in USH2 patients. 57 6
22147658 2012
2
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. 6 57
17171570 2007
3
Audiological findings in 100 USH2 patients. 57
21895633 2012
4
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. 57
9624053 1998
5
Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors. 61
21212183 2011

Variations for Usher Syndrome, Type Iid

ClinVar genetic disease variations for Usher Syndrome, Type Iid:

6 (show top 50) (show all 133)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WHRN DFNB31, IVS2DS, G-A, +1 SNV Pathogenic 2691 GRCh37:
GRCh38:
2 WHRN NM_015404.4(WHRN):c.307C>T (p.Gln103Ter) SNV Pathogenic 2690 rs137852840 GRCh37: 9:117266775-117266775
GRCh38: 9:114504495-114504495
3 WHRN NM_015404.4(WHRN):c.737del (p.Pro246fs) Deletion Pathogenic 31704 rs1589229634 GRCh37: 9:117240933-117240933
GRCh38: 9:114478653-114478653
4 WHRN NM_015404.4(WHRN):c.680dup (p.Tyr228fs) Duplication Pathogenic 31705 rs1306987034 GRCh37: 9:117240989-117240990
GRCh38: 9:114478709-114478710
5 WHRN NM_015404.4(WHRN):c.-269C>A SNV Uncertain significance 364702 rs551952938 GRCh37: 9:117267350-117267350
GRCh38: 9:114505070-114505070
6 WHRN NM_015404.4(WHRN):c.837+5G>C SNV Uncertain significance 364696 rs201863779 GRCh37: 9:117240828-117240828
GRCh38: 9:114478548-114478548
7 WHRN NM_015404.4(WHRN):c.1351G>C (p.Gly451Arg) SNV Uncertain significance 364689 rs886063372 GRCh37: 9:117186679-117186679
GRCh38: 9:114424399-114424399
8 WHRN NM_015404.4(WHRN):c.2130C>A (p.Gly710=) SNV Uncertain significance 364684 rs781674400 GRCh37: 9:117168741-117168741
GRCh38: 9:114406461-114406461
9 WHRN NM_015404.4(WHRN):c.549G>A (p.Arg183=) SNV Uncertain significance 364698 rs147477922 GRCh37: 9:117266533-117266533
GRCh38: 9:114504253-114504253
10 WHRN NM_015404.4(WHRN):c.1626+8T>G SNV Uncertain significance 364687 rs547616329 GRCh37: 9:117185586-117185586
GRCh38: 9:114423306-114423306
11 WHRN NM_015404.4(WHRN):c.*149A>G SNV Uncertain significance 364677 rs563858014 GRCh37: 9:117164885-117164885
GRCh38: 9:114402605-114402605
12 WHRN NM_015404.4(WHRN):c.1014A>G (p.Leu338=) SNV Uncertain significance 364695 rs886063373 GRCh37: 9:117188643-117188643
GRCh38: 9:114426363-114426363
13 WHRN NM_015404.4(WHRN):c.*633T>C SNV Uncertain significance 364670 rs886063366 GRCh37: 9:117164401-117164401
GRCh38: 9:114402121-114402121
14 WHRN NM_015404.4(WHRN):c.1683C>T (p.Leu561=) SNV Uncertain significance 364686 rs886063371 GRCh37: 9:117170242-117170242
GRCh38: 9:114407962-114407962
15 WHRN NM_015404.4(WHRN):c.*156G>A SNV Uncertain significance 364676 rs567661962 GRCh37: 9:117164878-117164878
GRCh38: 9:114402598-114402598
16 WHRN NM_015404.4(WHRN):c.955G>T (p.Gly319Trp) SNV Uncertain significance 178338 rs143165834 GRCh37: 9:117228555-117228555
GRCh38: 9:114466275-114466275
17 WHRN NM_015404.4(WHRN):c.1161G>A (p.Ser387=) SNV Uncertain significance 364693 rs201105262 GRCh37: 9:117188496-117188496
GRCh38: 9:114426216-114426216
18 WHRN NM_015404.4(WHRN):c.2173G>C (p.Glu725Gln) SNV Uncertain significance 364683 rs376805417 GRCh37: 9:117168698-117168698
GRCh38: 9:114406418-114406418
19 WHRN NM_015404.4(WHRN):c.-499G>A SNV Uncertain significance 364706 rs886063375 GRCh37: 9:117267580-117267580
GRCh38: 9:114505300-114505300
20 WHRN NM_015404.4(WHRN):c.*188A>T SNV Uncertain significance 364674 rs549537695 GRCh37: 9:117164846-117164846
GRCh38: 9:114402566-114402566
21 WHRN NM_015404.4(WHRN):c.1887G>A (p.Pro629=) SNV Uncertain significance 227290 rs143443833 GRCh37: 9:117168984-117168984
GRCh38: 9:114406704-114406704
22 WHRN NM_015404.4(WHRN):c.*357C>G SNV Uncertain significance 364672 rs886063368 GRCh37: 9:117164677-117164677
GRCh38: 9:114402397-114402397
23 WHRN NM_015404.4(WHRN):c.-583C>T SNV Uncertain significance 364710 rs755158483 GRCh37: 9:117267664-117267664
GRCh38: 9:114505384-114505384
24 WHRN NM_015404.4(WHRN):c.-483G>A SNV Uncertain significance 364705 rs886063374 GRCh37: 9:117267564-117267564
GRCh38: 9:114505284-114505284
25 WHRN NM_015404.4(WHRN):c.1305C>T (p.Asn435=) SNV Uncertain significance 364691 rs150407952 GRCh37: 9:117186725-117186725
GRCh38: 9:114424445-114424445
26 WHRN NM_015404.4(WHRN):c.*187A>G SNV Uncertain significance 364675 rs779279060 GRCh37: 9:117164847-117164847
GRCh38: 9:114402567-114402567
27 WHRN NM_015404.4(WHRN):c.*554C>T SNV Uncertain significance 364671 rs886063367 GRCh37: 9:117164480-117164480
GRCh38: 9:114402200-114402200
28 WHRN NM_015404.4(WHRN):c.1160C>T (p.Ser387Leu) SNV Uncertain significance 364694 rs763451514 GRCh37: 9:117188497-117188497
GRCh38: 9:114426217-114426217
29 WHRN NM_015404.4(WHRN):c.-23C>G SNV Uncertain significance 364699 rs770413185 GRCh37: 9:117267104-117267104
GRCh38: 9:114504824-114504824
30 WHRN NM_015404.4(WHRN):c.1378G>A (p.Val460Ile) SNV Uncertain significance 364688 rs373389359 GRCh37: 9:117186652-117186652
GRCh38: 9:114424372-114424372
31 WHRN NM_015404.4(WHRN):c.1608C>G (p.Thr536=) SNV Uncertain significance 45658 rs139337135 GRCh37: 9:117185612-117185612
GRCh38: 9:114423332-114423332
32 WHRN NM_015404.4(WHRN):c.1992G>A (p.Pro664=) SNV Uncertain significance 178336 rs142568702 GRCh37: 9:117168879-117168879
GRCh38: 9:114406599-114406599
33 WHRN NM_015404.4(WHRN):c.1227C>T (p.Ala409=) SNV Uncertain significance 364692 rs758129253 GRCh37: 9:117186803-117186803
GRCh38: 9:114424523-114424523
34 WHRN NM_015404.4(WHRN):c.2381C>T (p.Pro794Leu) SNV Uncertain significance 364680 rs886063370 GRCh37: 9:117166213-117166213
GRCh38: 9:114403933-114403933
35 WHRN NM_015404.4(WHRN):c.-581C>T SNV Uncertain significance 364709 rs886063377 GRCh37: 9:117267662-117267662
GRCh38: 9:114505382-114505382
36 WHRN NM_015404.4(WHRN):c.2569C>T (p.Gln857Ter) SNV Uncertain significance 179365 rs727504817 GRCh37: 9:117165189-117165189
GRCh38: 9:114402909-114402909
37 WHRN NM_015404.4(WHRN):c.1075G>A (p.Val359Ile) SNV Uncertain significance 288922 rs147500559 GRCh37: 9:117188582-117188582
GRCh38: 9:114426302-114426302
38 WHRN NM_015404.4(WHRN):c.690C>T (p.Thr230=) SNV Uncertain significance 364697 rs779112096 GRCh37: 9:117240980-117240980
GRCh38: 9:114478700-114478700
39 WHRN NM_015404.4(WHRN):c.2261C>T (p.Ser754Leu) SNV Uncertain significance 364681 rs768714315 GRCh37: 9:117166333-117166333
GRCh38: 9:114404053-114404053
40 WHRN NM_015404.4(WHRN):c.2248C>G (p.Leu750Val) SNV Uncertain significance 364682 rs751455932 GRCh37: 9:117166346-117166346
GRCh38: 9:114404066-114404066
41 WHRN NM_015404.4(WHRN):c.1331A>G (p.Tyr444Cys) SNV Uncertain significance 364690 rs45530335 GRCh37: 9:117186699-117186699
GRCh38: 9:114424419-114424419
42 WHRN NM_015404.4(WHRN):c.-517C>T SNV Uncertain significance 364708 rs886063376 GRCh37: 9:117267598-117267598
GRCh38: 9:114505318-114505318
43 WHRN NM_015404.4(WHRN):c.*583C>T SNV Uncertain significance 912413 GRCh37: 9:117164451-117164451
GRCh38: 9:114402171-114402171
44 WHRN NM_015404.4(WHRN):c.*495T>C SNV Uncertain significance 912414 GRCh37: 9:117164539-117164539
GRCh38: 9:114402259-114402259
45 WHRN NM_015404.4(WHRN):c.2653G>A (p.Ala885Thr) SNV Uncertain significance 912451 GRCh37: 9:117165105-117165105
GRCh38: 9:114402825-114402825
46 WHRN NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) SNV Uncertain significance 194094 rs150586098 GRCh37: 9:117165114-117165114
GRCh38: 9:114402834-114402834
47 WHRN NM_015404.4(WHRN):c.1929G>A (p.Gln643=) SNV Uncertain significance 912538 GRCh37: 9:117168942-117168942
GRCh38: 9:114406662-114406662
48 WHRN NM_015404.4(WHRN):c.1909C>A (p.Pro637Thr) SNV Uncertain significance 912539 GRCh37: 9:117168962-117168962
GRCh38: 9:114406682-114406682
49 WHRN NM_015404.4(WHRN):c.1389G>T (p.Leu463=) SNV Uncertain significance 912586 GRCh37: 9:117186641-117186641
GRCh38: 9:114424361-114424361
50 WHRN NM_015404.4(WHRN):c.1381A>C (p.Met461Leu) SNV Uncertain significance 504565 rs144878400 GRCh37: 9:117186649-117186649
GRCh38: 9:114424369-114424369

Expression for Usher Syndrome, Type Iid

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

Pathways for Usher Syndrome, Type Iid

GO Terms for Usher Syndrome, Type Iid

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.33 WHRN VEZT USH2A USH1G USH1C PDZD7
2 cell projection GO:0042995 10.14 WHRN VEZT USH2A USH1C PDZD7 MYO15A
3 synapse GO:0045202 10.07 WHRN USH1C PCDH15 MYO7A EPS8 EGFLAM
4 cell junction GO:0030054 9.97 WHRN VEZT MYO7A EPS8 EGFLAM
5 photoreceptor outer segment GO:0001750 9.88 USH1C PCDH15 MYO7A CIB2 CEP250
6 cilium GO:0005929 9.87 WHRN PDZD7 CIB2 CEP250
7 ciliary basal body GO:0036064 9.84 WHRN USH2A USH1G CEP250
8 vesicle GO:0031982 9.76 MYO7A MYO15A EPS8
9 stereocilium tip GO:0032426 9.76 WHRN USH1C PDZD7 EPS8
10 microvillus GO:0005902 9.73 USH1C MYO7A CLRN1
11 stereocilium bundle GO:0032421 9.73 WHRN USH2A MYO15A EPS8
12 photoreceptor connecting cilium GO:0032391 9.73 WHRN USH2A USH1G USH1C PDZD7 MYO7A
13 periciliary membrane compartment GO:1990075 9.69 WHRN USH2A ADGRV1
14 stereocilium membrane GO:0060171 9.67 VEZT USH2A ADGRV1
15 USH2 complex GO:1990696 9.67 WHRN USH2A PDZD7 ADGRV1
16 stereocilia ankle link complex GO:0002142 9.63 WHRN VEZT USH2A USH1C PDZD7 ADGRV1
17 stereocilia ankle link GO:0002141 9.62 WHRN USH2A PDZD7 ADGRV1
18 photoreceptor inner segment GO:0001917 9.61 WHRN USH2A USH1G USH1C PDZD7 MYO7A
19 stereocilium GO:0032420 9.36 WHRN USH1C PDZD7 PCDH15 MYO7A MYO15A

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.89 USH2A MYO7A CLRN1 CDH23 ADGRV1
2 inner ear receptor cell stereocilium organization GO:0060122 9.8 WHRN USH1G USH1C MYO7A CDH23 ADGRV1
3 inner ear morphogenesis GO:0042472 9.76 USH1G USH1C MYO7A MYO15A
4 photoreceptor cell maintenance GO:0045494 9.76 USH2A USH1G USH1C PCDH15 CLRN1 CIB2
5 cell-cell adhesion GO:0098609 9.75 VEZT CDH23 ADGRV1
6 actin filament organization GO:0007015 9.74 MYO7A MYO15A CLRN1
7 establishment of protein localization GO:0045184 9.73 WHRN USH2A PDZD7 ADGRV1
8 equilibrioception GO:0050957 9.73 USH1G USH1C PCDH15 MYO7A CLRN1 CDH23
9 inner ear development GO:0048839 9.7 PCDH15 MYO7A ADGRV1
10 auditory receptor cell stereocilium organization GO:0060088 9.67 WHRN PDZD7 MYO7A CLRN1
11 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.65 WHRN PDZD7 ADGRV1
12 sensory perception of light stimulus GO:0050953 9.61 WHRN USH2A USH1G USH1C PCDH15 MYO7A
13 inner ear receptor cell differentiation GO:0060113 9.58 USH2A USH1G MYO7A
14 vesicle transport along actin filament GO:0030050 9.56 MYO7A MYO15A
15 auditory receptor cell development GO:0060117 9.55 PDZD7 CLRN1
16 inner ear auditory receptor cell differentiation GO:0042491 9.54 USH1C MYO7A
17 maintenance of animal organ identity GO:0048496 9.51 USH2A ADGRV1
18 sensory perception of sound GO:0007605 9.36 WHRN USH2A USH1G USH1C PDZD7 PCDH15

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.35 PCDH15 EGFLAM CIB2 CDH23 ADGRV1
2 microfilament motor activity GO:0000146 9.32 MYO7A MYO15A
3 myosin binding GO:0017022 9.26 VEZT USH2A
4 actin-dependent ATPase activity GO:0030898 9.16 MYO7A MYO15A
5 spectrin binding GO:0030507 8.8 USH1G USH1C MYO7A

Sources for Usher Syndrome, Type Iid

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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