MCID: USH020
MIFTS: 40

Usher Syndrome, Type Iic

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

Aliases & Classifications for Usher Syndrome, Type Iic

MalaCards integrated aliases for Usher Syndrome, Type Iic:

Name: Usher Syndrome, Type Iic 57 40
Usher Syndrome, Type 2c 57 76 53 29 13 6 73
Ush2c 57 12 53 75
Usher Syndrome Type Iic 12 75
Usher Syndrome Type 2c 12 15
Usher Syndrome, Type Iic, Gpr98/pdzd7 Digenic 57
Usher Syndrome, Type 2c, Gpr98/pdzd7 Digenic 57
Usher Syndrome Type Iic Gpr98/pdzd7 Digenic 75
Usher's Syndrome Type 2c 75
Usher Syndrome 2c 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
digenic (see miscellaneous)

Miscellaneous:
digenic form caused by heterozygous mutations in the gpr98 and pdzd7 genes


HPO:

32
usher syndrome, type iic:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 605472
Disease Ontology 12 DOID:0110839
ICD10 33 H35.5
MeSH 44 D052245
SNOMED-CT via HPO 69 258211005 28835009 700453005
UMLS 73 C2931213

Summaries for Usher Syndrome, Type Iic

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). (605472)

MalaCards based summary : Usher Syndrome, Type Iic, also known as usher syndrome, type 2c, is related to retinitis pigmentosa-deafness syndrome and usher syndrome. An important gene associated with Usher Syndrome, Type Iic is ADGRV1 (Adhesion G Protein-Coupled Receptor V1). Affiliated tissues include retina, and related phenotypes are rod-cone dystrophy and congenital sensorineural hearing impairment

Disease Ontology : 12 An Usher syndrome type 2 that has material basis in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14.

UniProtKB/Swiss-Prot : 75 Usher syndrome 2C: 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). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.

Wikipedia : 76 Usher syndrome, also known as Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis... more...

Related Diseases for Usher Syndrome, Type Iic

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 2
Usher Syndrome, Type 2b

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa-deafness syndrome 30.5 ADGRV1 CDH23 MYO7A PCDH15
2 usher syndrome 27.4 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 PDZD7
3 auditory neuropathy spectrum disorder 10.6 MYO7A OPA1
4 dfnb1 10.5 MYO7A PCDH15
5 nonsyndromic retinitis pigmentosa 10.5 CLRN1 USH2A
6 deafness, autosomal recessive 6 10.5 ADGRV1 MYO7A USH2A
7 usher syndrome, type ic 10.4 CDH23 MYO7A USH1C
8 deafness, autosomal recessive 85 10.4 CDH23 MYO7A
9 deafness, autosomal recessive 12 10.3 CDH23 MYO7A PCDH15
10 usher syndrome, type iia 10.3 PDZD7 USH1C USH2A WHRN
11 deafness, autosomal recessive 83 10.3 CDH23 MYO7A
12 yemenite deaf-blind hypopigmentation syndrome 10.3 MYO7A USH2A
13 auditory system disease 10.3 CDH23 MYO7A PCDH15
14 macular dystrophy, dominant cystoid 10.3 CRB1 PDE6A
15 retinitis pigmentosa 43 10.2 PDE6A PDE6B
16 usher syndrome, type ig 10.1 CDH23 MYO7A PCDH15 USH1G
17 bardet-biedl syndrome 9.9 CDH23 MYO7A PCDH15 USH1C
18 macular retinal edema 9.9 CRB1 PDE6A
19 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.8 CDH23 MYO7A PCDH15 USH1C WHRN
20 sensorineural hearing loss 9.8 CDH23 MYO7A PCDH15 USH2A WHRN
21 usher syndrome, type if 9.8 CDH23 MYO7A PCDH15 USH1C USH1G
22 deafness, autosomal recessive 9.8 PCDH15 USH1C WHRN
23 deafness, autosomal recessive 23 9.8 CDH17 CDH23 MYO7A PCDH15
24 retinal degeneration 9.6 CRB1 MYO7A PDE6B USH1C
25 fundus dystrophy 9.6 CRB1 MYO7A PDE6B USH2A
26 usher syndrome, type id 9.3 ADGRV1 CDH23 MYO7A PCDH15 USH1C USH1G
27 leber congenital amaurosis 9.2 CRB1 MYO7A PDE6A PDE6B USH2A
28 retinal disease 9.2 CRB1 MYO7A PCDH15 PDE6B USH1C USH2A
29 trehalase deficiency 9.2 CDH23 CRB1 MYO7A OPA1 PDE6A USH2A
30 nonsyndromic deafness 8.8 ADGRV1 CDH23 MYO7A PCDH15 PDZD7 USH1C
31 usher syndrome, type i 8.6 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
32 usher syndrome, type iiia 8.5 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 SLC4A7
33 usher syndrome, type iid 8.5 ADGRV1 CDH23 MYO7A OPA1 PCDH15 PDZD7
34 usher syndrome type 2 7.7 ADGRV1 CDH23 CLRN1 MYO7A OPA1 PCDH15
35 retinitis pigmentosa 6.9 ADGRV1 CDH23 CLRN1 CRB1 MYO7A PCDH15

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



Diseases related to Usher Syndrome, Type Iic

Symptoms & Phenotypes for Usher Syndrome, Type Iic

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, congenital sensorineural, moderate-severe

Head And Neck Eyes:
retinitis pigmentosa, progressive


Clinical features from OMIM:

605472

Human phenotypes related to Usher Syndrome, Type Iic:

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 congenital sensorineural hearing impairment 32 HP:0008527

MGI Mouse Phenotypes related to Usher Syndrome, Type Iic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 ADGRV1 CDH23 CLRN1 MYO7A OPA1 PCDH15
2 hearing/vestibular/ear MP:0005377 10.07 ADGRV1 CDH23 CLRN1 MYO7A OPA1 PCDH15
3 cellular MP:0005384 10.02 CDH23 CRB1 PDE6B PDZD7 SLC4A7 USH1G
4 homeostasis/metabolism MP:0005376 9.9 CDH23 CRB1 ERN1 MYO7A OPA1 PDE6B
5 nervous system MP:0003631 9.86 ADGRV1 CDH23 CLRN1 CRB1 MYO7A OPA1
6 vision/eye MP:0005391 9.5 WHRN ADGRV1 CDH23 CLRN1 CRB1 MYO7A

Drugs & Therapeutics for Usher Syndrome, Type Iic

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

Genetic Tests for Usher Syndrome, Type Iic

Genetic tests related to Usher Syndrome, Type Iic:

# Genetic test Affiliating Genes
1 Usher Syndrome, Type 2c 29 ADGRV1 PDZD7

Anatomical Context for Usher Syndrome, Type Iic

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

41
Retina

Publications for Usher Syndrome, Type Iic

Articles related to Usher Syndrome, Type Iic:

# Title Authors Year
1
A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing. ( 29890953 )
2018
2
Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC. ( 29883260 )
2018

Variations for Usher Syndrome, Type Iic

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

75
# Symbol AA change Variation ID SNP ID
1 ADGRV1 p.Arg4789Trp VAR_068032
2 ADGRV1 p.His5978Arg VAR_068033 rs756460900

ClinVar genetic disease variations for Usher Syndrome, Type Iic:

6
(show top 50) (show all 96)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADGRV1 NM_032119.3(ADGRV1): c.6901C> T (p.Gln2301Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909762 GRCh37 Chromosome 5, 89986808: 89986808
2 ADGRV1 NM_032119.3(ADGRV1): c.6901C> T (p.Gln2301Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909762 GRCh38 Chromosome 5, 90690991: 90690991
3 ADGRV1 NM_032119.3(ADGRV1): c.8713_8716dupAACA (p.Ile2906Lysfs) duplication Pathogenic rs796051863 GRCh38 Chromosome 5, 90706377: 90706380
4 ADGRV1 NM_032119.3(ADGRV1): c.8713_8716dupAACA (p.Ile2906Lysfs) duplication Pathogenic rs796051863 GRCh37 Chromosome 5, 90002194: 90002197
5 ADGRV1 NM_032119.3(ADGRV1): c.8790delC (p.Met2931Trpfs) deletion Pathogenic rs796051864 GRCh38 Chromosome 5, 90708875: 90708875
6 ADGRV1 NM_032119.3(ADGRV1): c.8790delC (p.Met2931Trpfs) deletion Pathogenic rs796051864 GRCh37 Chromosome 5, 90004692: 90004692
7 ADGRV1 NM_032119.3(ADGRV1): c.18732_18750del19 (p.Tyr6244Terfs) deletion Pathogenic rs796051865 GRCh38 Chromosome 5, 91153328: 91153346
8 ADGRV1 NM_032119.3(ADGRV1): c.18732_18750del19 (p.Tyr6244Terfs) deletion Pathogenic rs796051865 GRCh37 Chromosome 5, 90449145: 90449163
9 ADGRV1 NM_032119.3(ADGRV1): c.18131A> G (p.Tyr6044Cys) single nucleotide variant Pathogenic rs121909763 GRCh37 Chromosome 5, 90281318: 90281318
10 ADGRV1 NM_032119.3(ADGRV1): c.18131A> G (p.Tyr6044Cys) single nucleotide variant Pathogenic rs121909763 GRCh38 Chromosome 5, 90985501: 90985501
11 ADGRV1 NG_007083.1: g.371658_507674del deletion Pathogenic GRCh38 Chromosome 5, 90925457: 91061473
12 ADGRV1 NM_032119.3(ADGRV1): c.2258_2270delAAGTGCTGAAATC (p.Gln753Leufs) deletion Pathogenic rs796051866 GRCh38 Chromosome 5, 90642653: 90642665
13 ADGRV1 NM_032119.3(ADGRV1): c.2258_2270delAAGTGCTGAAATC (p.Gln753Leufs) deletion Pathogenic rs796051866 GRCh37 Chromosome 5, 89938470: 89938482
14 ADGRV1 NM_032119.3(ADGRV1): c.5357_5358delAA (p.Lys1786Ilefs) deletion Pathogenic rs796051867 GRCh38 Chromosome 5, 90676123: 90676124
15 ADGRV1 NM_032119.3(ADGRV1): c.5357_5358delAA (p.Lys1786Ilefs) deletion Pathogenic rs796051867 GRCh37 Chromosome 5, 89971940: 89971941
16 ADGRV1 NM_032119.3(ADGRV1): c.10229_10231dupTGG (p.Val3410_Ala3411insVal) duplication Likely pathogenic rs397517418 GRCh37 Chromosome 5, 90024553: 90024555
17 ADGRV1 NM_032119.3(ADGRV1): c.10229_10231dupTGG (p.Val3410_Ala3411insVal) duplication Likely pathogenic rs397517418 GRCh38 Chromosome 5, 90728736: 90728738
18 ADGRV1 NM_032119.3(ADGRV1): c.11253C> G (p.Tyr3751Ter) single nucleotide variant Pathogenic rs376689763 GRCh37 Chromosome 5, 90049522: 90049522
19 ADGRV1 NM_032119.3(ADGRV1): c.11253C> G (p.Tyr3751Ter) single nucleotide variant Pathogenic rs376689763 GRCh38 Chromosome 5, 90753705: 90753705
20 ADGRV1 NM_032119.3(ADGRV1): c.14973-2A> G single nucleotide variant Pathogenic rs371981035 GRCh37 Chromosome 5, 90106048: 90106048
21 ADGRV1 NM_032119.3(ADGRV1): c.14973-2A> G single nucleotide variant Pathogenic rs371981035 GRCh38 Chromosome 5, 90810231: 90810231
22 ADGRV1 NM_032119.3(ADGRV1): c.17662delT (p.Ser5888Hisfs) deletion Pathogenic rs397517426 GRCh37 Chromosome 5, 90151625: 90151625
23 ADGRV1 NM_032119.3(ADGRV1): c.17662delT (p.Ser5888Hisfs) deletion Pathogenic rs397517426 GRCh38 Chromosome 5, 90855808: 90855808
24 ADGRV1 NM_032119.3(ADGRV1): c.2398C> T (p.Arg800Ter) single nucleotide variant Pathogenic rs373780305 GRCh37 Chromosome 5, 89938703: 89938703
25 ADGRV1 NM_032119.3(ADGRV1): c.2398C> T (p.Arg800Ter) single nucleotide variant Pathogenic rs373780305 GRCh38 Chromosome 5, 90642886: 90642886
26 ADGRV1 NM_032119.3(ADGRV1): c.2870dupA (p.Asn957Lysfs) duplication Pathogenic rs397517429 GRCh37 Chromosome 5, 89940658: 89940658
27 ADGRV1 NM_032119.3(ADGRV1): c.2870dupA (p.Asn957Lysfs) duplication Pathogenic rs397517429 GRCh38 Chromosome 5, 90644841: 90644841
28 ADGRV1 NM_032119.3(ADGRV1): c.7374_7375delTG (p.Glu2459Glyfs) deletion Pathogenic rs397517435 GRCh37 Chromosome 5, 89989947: 89989948
29 ADGRV1 NM_032119.3(ADGRV1): c.7374_7375delTG (p.Glu2459Glyfs) deletion Pathogenic rs397517435 GRCh38 Chromosome 5, 90694130: 90694131
30 ADGRV1 NM_032119.3(ADGRV1): c.7406G> A (p.Trp2469Ter) single nucleotide variant Pathogenic rs397517436 GRCh37 Chromosome 5, 89989979: 89989979
31 ADGRV1 NM_032119.3(ADGRV1): c.7406G> A (p.Trp2469Ter) single nucleotide variant Pathogenic rs397517436 GRCh38 Chromosome 5, 90694162: 90694162
32 ADGRV1 NM_032119.3(ADGRV1): c.8737delG (p.Val2913Tyrfs) deletion Pathogenic rs397517441 GRCh37 Chromosome 5, 90004639: 90004639
33 ADGRV1 NM_032119.3(ADGRV1): c.8737delG (p.Val2913Tyrfs) deletion Pathogenic rs397517441 GRCh38 Chromosome 5, 90708822: 90708822
34 ADGRV1 NM_032119.3(ADGRV1): c.12403+1G> T single nucleotide variant Likely pathogenic rs527236132 GRCh38 Chromosome 5, 90774304: 90774304
35 ADGRV1 NM_032119.3(ADGRV1): c.12403+1G> T single nucleotide variant Likely pathogenic rs527236132 GRCh37 Chromosome 5, 90070121: 90070121
36 ADGRV1 NM_032119.3(ADGRV1): c.15736C> T (p.Arg5246Ter) single nucleotide variant Likely pathogenic rs527236131 GRCh38 Chromosome 5, 90810996: 90810996
37 ADGRV1 NM_032119.3(ADGRV1): c.15736C> T (p.Arg5246Ter) single nucleotide variant Likely pathogenic rs527236131 GRCh37 Chromosome 5, 90106813: 90106813
38 ADGRV1 NM_032119.3(ADGRV1): c.7006C> T (p.Arg2336Ter) single nucleotide variant Pathogenic rs527236133 GRCh38 Chromosome 5, 90692659: 90692659
39 ADGRV1 NM_032119.3(ADGRV1): c.7006C> T (p.Arg2336Ter) single nucleotide variant Pathogenic rs527236133 GRCh37 Chromosome 5, 89988476: 89988476
40 ADGRV1 NM_032119.3(ADGRV1): c.(?_4379)_(4752_?)del (p.(?)) deletion Pathogenic GRCh37 Chromosome 5, 89953722: 89954095
41 ADGRV1 NM_032119.3(ADGRV1): c.(?_4379)_(4752_?)del (p.(?)) deletion Pathogenic GRCh38 Chromosome 5, 90657905: 90658278
42 ADGRV1 NM_032119.3(ADGRV1): c.(?_18153)-15_*(15_?)del deletion Pathogenic GRCh37 Chromosome 5, 90368249: 90459732
43 ADGRV1 NM_032119.3(ADGRV1): c.(?_18153)-15_*(15_?)del deletion Pathogenic GRCh38 Chromosome 5, 91072432: 91163915
44 ADGRV1 NM_032119.3(ADGRV1): c.5643delG (p.Tyr1882Ilefs) deletion Pathogenic rs727503076 GRCh37 Chromosome 5, 89977250: 89977250
45 ADGRV1 NM_032119.3(ADGRV1): c.5643delG (p.Tyr1882Ilefs) deletion Pathogenic rs727503076 GRCh38 Chromosome 5, 90681433: 90681433
46 ADGRV1 NM_032119.3(ADGRV1): c.6559A> G (p.Ile2187Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200512504 GRCh37 Chromosome 5, 89985746: 89985746
47 ADGRV1 NM_032119.3(ADGRV1): c.6559A> G (p.Ile2187Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200512504 GRCh38 Chromosome 5, 90689929: 90689929
48 ADGRV1 NM_032119.3(ADGRV1): c.10060_10063delACAA (p.Thr3354Serfs) deletion Pathogenic rs727504978 GRCh37 Chromosome 5, 90021372: 90021375
49 ADGRV1 NM_032119.3(ADGRV1): c.10060_10063delACAA (p.Thr3354Serfs) deletion Pathogenic rs727504978 GRCh38 Chromosome 5, 90725555: 90725558
50 ADGRV1 NM_032119.3(ADGRV1): c.12631C> T (p.Arg4211Ter) single nucleotide variant Pathogenic rs727504777 GRCh37 Chromosome 5, 90073825: 90073825

Expression for Usher Syndrome, Type Iic

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

Pathways for Usher Syndrome, Type Iic

GO Terms for Usher Syndrome, Type Iic

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.91 ADGRV1 MYO7A PCDH15 SLC4A7 USH1C
2 apical plasma membrane GO:0016324 9.84 CRB1 MYO7A SLC4A7 USH2A
3 microvillus GO:0005902 9.71 CLRN1 CRB1 MYO7A USH1C
4 photoreceptor outer segment GO:0001750 9.65 MYO7A PCDH15 USH1C
5 photoreceptor connecting cilium GO:0032391 9.63 MYO7A PDZD7 USH1C USH1G USH2A WHRN
6 stereocilia ankle link GO:0002141 9.62 PDZD7 USH1C USH2A WHRN
7 stereocilium tip GO:0032426 9.61 PDZD7 USH1C WHRN
8 stereocilia ankle link complex GO:0002142 9.56 PDZD7 USH1C USH2A WHRN
9 photoreceptor disc membrane GO:0097381 9.55 PDE6A PDE6B
10 stereocilium bundle GO:0032421 9.52 PCDH15 USH2A
11 photoreceptor inner segment GO:0001917 9.5 CRB1 MYO7A PDZD7 USH1C USH1G USH2A
12 USH2 complex GO:1990696 9.46 PDZD7 USH2A
13 stereocilium GO:0032420 9.23 ADGRV1 CDH23 MYO7A PCDH15 PDZD7 SLC4A7
14 membrane GO:0016020 10.37 ADGRV1 CDH17 CDH23 CLRN1 CRB1 ERN1
15 integral component of membrane GO:0016021 10.34 ADGRV1 CDH17 CDH23 CLRN1 CRB1 ERN1
16 plasma membrane GO:0005886 10.24 ADGRV1 CDH17 CDH23 CLRN1 CRB1 PCDH15

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 9.85 MYO7A PDZD7 USH1C USH1G WHRN
2 sensory perception of sound GO:0007605 9.85 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 PDZD7
3 inner ear auditory receptor cell differentiation GO:0042491 9.8 MYO7A PCDH15 PDZD7 USH1C WHRN
4 inner ear receptor cell stereocilium organization GO:0060122 9.8 CDH23 MYO7A PCDH15 USH1C USH1G WHRN
5 photoreceptor cell maintenance GO:0045494 9.8 ADGRV1 CDH23 CLRN1 PCDH15 USH1C USH1G
6 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.77 CDH17 CDH23 PCDH15
7 auditory receptor cell stereocilium organization GO:0060088 9.73 MYO7A PCDH15 PDZD7 WHRN
8 regulation of cytosolic calcium ion concentration GO:0051480 9.7 CDH23 PDE6A PDE6B
9 inner ear receptor cell development GO:0060119 9.67 PDZD7 USH1C WHRN
10 inner ear receptor cell differentiation GO:0060113 9.65 MYO7A USH1G USH2A
11 anion transport GO:0006820 9.61 SLC4A7 SLC4A8
12 sensory perception of light stimulus GO:0050953 9.61 ADGRV1 CDH23 CLRN1 MYO7A PCDH15 USH1C
13 regulation of rhodopsin mediated signaling pathway GO:0022400 9.59 PDE6A PDE6B
14 eye photoreceptor cell development GO:0042462 9.58 CRB1 MYO7A
15 GMP metabolic process GO:0046037 9.58 PDE6A PDE6B
16 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.57 PCDH15 PDZD7
17 rhodopsin mediated signaling pathway GO:0016056 9.56 PDE6A PDE6B
18 auditory receptor cell development GO:0060117 9.55 PDZD7 SLC4A7
19 maintenance of animal organ identity GO:0048496 9.54 ADGRV1 USH2A
20 equilibrioception GO:0050957 9.1 CDH23 CLRN1 MYO7A PCDH15 USH1C USH1G
21 response to stimulus GO:0050896 10.05 ADGRV1 CDH23 CLRN1 OPA1 PDE6A PDE6B
22 visual perception GO:0007601 10.02 ADGRV1 CDH23 CLRN1 MYO7A OPA1 PCDH15

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.43 ADGRV1 CDH17 CDH23 CRB1 PCDH15 VCAN
2 anion transmembrane transporter activity GO:0008509 9.32 SLC4A7 SLC4A8
3 3,5-cyclic-GMP phosphodiesterase activity GO:0047555 9.26 PDE6A PDE6B
4 sodium:bicarbonate symporter activity GO:0008510 9.16 SLC4A7 SLC4A8
5 spectrin binding GO:0030507 8.8 MYO7A USH1C USH1G

Sources for Usher Syndrome, Type Iic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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