USH2C
MCID: USH020
MIFTS: 43

Usher Syndrome, Type Iic (USH2C)

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

Aliases & Classifications for Usher Syndrome, Type Iic

MalaCards integrated aliases for Usher Syndrome, Type Iic:

Name: Usher Syndrome, Type Iic 56 39
Usher Syndrome, Type 2c 56 74 52 29 13 6 71
Ush2c 56 12 52 73
Usher Syndrome, Type 2c, Gpr98/pdzd7 Digenic 56 29
Usher Syndrome Type Iic 12 73
Usher Syndrome Type 2c 12 15
Usher Syndrome, Type Iic, Gpr98/pdzd7 Digenic 56
Usher Syndrome Type Iic Gpr98/pdzd7 Digenic 73
Usher's Syndrome Type 2c 73
Usher Syndrome 2c 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive
digenic dominant (see miscellaneous)

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


HPO:

31
usher syndrome, type iic:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110839
OMIM 56 605472
OMIM Phenotypic Series 56 PS276900
MeSH 43 D052245
ICD10 32 H35.5
SNOMED-CT via HPO 68 258211005 28835009 700453005
UMLS 71 C2931213

Summaries for Usher Syndrome, Type Iic

OMIM : 56 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, type iia. An important gene associated with Usher Syndrome, Type Iic is ADGRV1 (Adhesion G Protein-Coupled Receptor V1). Affiliated tissues include retina and eye, 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 : 73 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 : 74 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 Iv
Usher Syndrome, Type 1m 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 top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa-deafness syndrome 30.6 WHRN USH2A PCDH15 MYO7A CDH23
2 usher syndrome, type iia 29.8 WHRN USH2A USH1C PDZD7 PCARE CDH23
3 retinal degeneration 29.6 USH2A USH1C PCARE MYO7A CDH23 ABHD12
4 retinal disease 29.5 USH2A USH1G USH1C PDZD7 PCDH15 MYO7A
5 retinitis pigmentosa 27.6 WHRN USH2A USH1G USH1C PDZD7 PCDH15
6 usher syndrome 27.4 WHRN USH2A USH1G USH1C STRC SLC4A7
7 usher syndrome type 2 25.6 WHRN VEZT USH2A USH1G USH1C STRC
8 nonsyndromic retinitis pigmentosa 10.5 USH2A CLRN1
9 dfnb1 10.4 PCDH15 MYO7A
10 acute hemorrhagic leukoencephalitis 10.4 USH1G CDH23
11 deafness, autosomal dominant 56 10.4 WHRN USH2A
12 drug-induced hearing loss 10.4 MYO7A CDH23
13 deafness, autosomal dominant 48 10.4 MYO7A CIB2
14 deafness, autosomal recessive 83 10.4 MYO7A CDH23
15 auditory neuropathy spectrum disorder 10.4 OPA1 MYO7A
16 autosomal recessive nonsyndromic deafness 36 10.4 WHRN USH1C PCDH15
17 deafness, autosomal dominant 17 10.3 PCDH15 MYO7A
18 deafness, autosomal dominant 36 10.3 PCDH15 CDH23
19 deafness, autosomal dominant 20 10.3 USH1G CDH23
20 deafness, autosomal recessive 5 10.3 USH1C STRC
21 deafness, autosomal recessive 30 10.3 WHRN PCDH15 MYO7A
22 autosomal recessive nonsyndromic deafness 3 10.3 WHRN MYO7A CDH23
23 deafness, autosomal dominant 27 10.3 STRC CDH23
24 deafness, autosomal recessive 48 10.3 WHRN MYO7A CIB2
25 baraitser-winter syndrome 10.3 WHRN CIB2 CDH23
26 deafness, autosomal dominant 59 10.3 USH1C STRC
27 deafness, autosomal dominant 9 10.3 PCDH15 MYO7A
28 perrault syndrome 10.3 PCDH15 CLRN1 CDH23
29 deafness, autosomal dominant 25 10.2 USH1C MYO7A
30 usher syndrome, type iiib 10.2 WHRN USH1G MYO7A CLRN1
31 deafness, autosomal dominant 40 10.2 PCDH15 CDH23
32 usher syndrome, type ig 10.2 USH1G USH1C PCDH15 CDH23
33 deafness, autosomal recessive 22 10.2 STRC CDH23
34 neuroretinitis 10.2
35 retinitis 10.2
36 usher syndrome, type ik 10.2 PCDH15 CLRN1 CIB2 CDH23
37 hodgkin's lymphoma, nodular sclerosis 10.2 STRC MYO7A CDH23
38 yemenite deaf-blind hypopigmentation syndrome 10.2 USH2A MYO7A
39 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
40 stargardt disease 10.1 USH2A PCARE MYO7A
41 deafness, autosomal recessive 10.1 WHRN USH1C PDZD7 PCDH15 CIB2
42 deafness, autosomal recessive 16 10.1 USH1C STRC PCDH15 CDH23
43 branchiootic syndrome 1 10.1 WHRN USH2A USH1G MYO7A CDH23
44 vestibular disease 10.1 STRC PCDH15 MYO7A CDH23
45 choroid disease 9.9 USH2A MYO7A
46 autosomal recessive nonsyndromic deafness 9.9 WHRN STRC PCDH15 MYO7A CDH23
47 autosomal genetic disease 9.9 USH2A MYO7A CDH23
48 deafness, autosomal recessive 23 9.9 WHRN USH1G USH1C PCDH15 MYO7A CDH23
49 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.9 USH1C STRC PCDH15 MYO7A CDH23
50 deafness, autosomal recessive 31 9.9 WHRN USH1G PDZD7 PCARE CLRN1 CIB2

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

Human phenotypes related to Usher Syndrome, Type Iic:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510
2 congenital sensorineural hearing impairment 31 HP:0008527

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
retinitis pigmentosa, progressive

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

Clinical features from OMIM:

605472

MGI Mouse Phenotypes related to Usher Syndrome, Type Iic:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 ABHD12 ADGRV1 CDH23 CEP250 CIB2 CLRN1
2 hearing/vestibular/ear MP:0005377 10.06 ABHD12 ADGRV1 CDH23 CEP250 CIB2 CLRN1
3 nervous system MP:0003631 9.91 ABHD12 ADGRV1 CDH23 CEP250 CIB2 CLRN1
4 vision/eye MP:0005391 9.55 ABHD12 ADGRV1 CDH23 CEP250 CIB2 CLRN1

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
2 Usher Syndrome, Type 2c, Gpr98/pdzd7 Digenic 29

Anatomical Context for Usher Syndrome, Type Iic

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

40
Retina, Eye

Publications for Usher Syndrome, Type Iic

Articles related to Usher Syndrome, Type Iic:

(show all 18)
# Title Authors PMID Year
1
GPR98 mutations cause Usher syndrome type 2 in males. 61 56 6
19357117 2009
2
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. 56 6
20440071 2010
3
Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family. 56 6
18854872 2009
4
A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family. 56 6
19357116 2009
5
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. 56 6
14740321 2004
6
A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2. 56 6
10234513 1999
7
Audiological findings in 100 USH2 patients. 56
21895633 2012
8
Non-USH2A mutations in USH2 patients. 56
22147658 2012
9
Clinical utility gene card for: Usher syndrome. 6
21697857 2011
10
Phenotypes in defined genotypes including siblings with Usher syndrome. 56
21174530 2011
11
Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. 56
15671307 2005
12
Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q. 56
10745043 2000
13
Usher Syndrome Type II 6
20301515 1999
14
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. 56
9624053 1998
15
Genetic heterogeneity of Usher syndrome type II. 56
7901420 1993
16
Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC. 61
29883260 2018
17
A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing. 61
29890953 2018
18
The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC. 61
15820310 2005

Variations for Usher Syndrome, Type Iic

ClinVar genetic disease variations for Usher Syndrome, Type Iic:

6 (show top 50) (show all 75) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADGRV1 NM_032119.4(ADGRV1):c.8713_8716dup (p.Ile2906fs)duplication Pathogenic 6799 rs796051863 5:90002193-90002194 5:90706376-90706377
2 ADGRV1 NM_032119.4(ADGRV1):c.8790del (p.Met2931fs)deletion Pathogenic 6800 rs796051864 5:90004691-90004691 5:90708874-90708874
3 ADGRV1 NM_032119.4(ADGRV1):c.18732_18750del (p.Gly6243_Tyr6244insTer)deletion Pathogenic 6801 rs796051865 5:90449141-90449159 5:91153324-91153342
4 ADGRV1 NM_032119.4(ADGRV1):c.18131A>G (p.Tyr6044Cys)SNV Pathogenic 6802 rs121909763 5:90281318-90281318 5:90985501-90985501
5 ADGRV1 NG_007083.1:g.371658_507674deldeletion Pathogenic 6803 5:90221274-90357290 5:90925457-91061473
6 ADGRV1 NM_032119.4(ADGRV1):c.2258_2270del (p.Gln753fs)deletion Pathogenic 6804 rs796051866 5:89938469-89938481 5:90642652-90642664
7 ADGRV1 NM_032119.4(ADGRV1):c.5357_5358del (p.Lys1786fs)deletion Pathogenic 6805 rs796051867 5:89971939-89971940 5:90676122-90676123
8 ADGRV1 NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter)SNV Pathogenic 46306 rs373780305 5:89938703-89938703 5:90642886-90642886
9 ADGRV1 NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter)SNV Pathogenic 143160 rs527236133 5:89988476-89988476 5:90692659-90692659
10 ADGRV1 NM_032119.4(ADGRV1):c.7606G>T (p.Glu2536Ter)SNV Pathogenic 266014 rs886039893 5:89990179-89990179 5:90694362-90694362
11 ADGRV1 NM_032119.4(ADGRV1):c.2898G>A (p.Glu966=)SNV Pathogenic 402257 rs1060499796 5:89940686-89940686 5:90644869-90644869
12 ADGRV1 NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg)SNV Pathogenic 402256 rs1060499795 5:90024750-90024750 5:90728933-90728933
13 ADGRV1 NM_032119.4(ADGRV1):c.17062C>T (p.Arg5688Ter)SNV Pathogenic 503694 rs747622607 5:90144496-90144496 5:90848679-90848679
14 ADGRV1 NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs)deletion Pathogenic 503620 rs757696771 5:90151631-90151632 5:90855814-90855815
15 ADGRV1 NM_032119.4(ADGRV1):c.1608C>G (p.Tyr536Ter)SNV Pathogenic 545416 rs1561416879 5:89925125-89925125 5:90629308-90629308
16 ADGRV1 NM_032119.4(ADGRV1):c.2320G>T (p.Gly774Ter)SNV Pathogenic 627429 rs1561441451 5:89938532-89938532 5:90642715-90642715
17 ADGRV1 NM_032119.4(ADGRV1):c.7885G>T (p.Gly2629Ter)SNV Pathogenic 627432 rs1561543496 5:89990458-89990458 5:90694641-90694641
18 ADGRV1 NM_032119.4(ADGRV1):c.16114G>T (p.Glu5372Ter)SNV Pathogenic 627430 rs377650415 5:90111471-90111471 5:90815654-90815654
19 ADGRV1 NM_032119.4(ADGRV1):c.17200G>T (p.Glu5734Ter)SNV Pathogenic 627431 rs1561843914 5:90144634-90144634 5:90848817-90848817
20 ADGRV1 NM_032119.4(ADGRV1):c.11122-1G>CSNV Pathogenic 599115 rs1561660434 5:90049390-90049390 5:90753573-90753573
21 ADGRV1 NM_032119.4(ADGRV1):c.3133del (p.Ala1045fs)deletion Pathogenic 802124 5:89943424-89943424 5:90647607-90647607
22 ADGRV1 NM_032119.4(ADGRV1):c.13655dup (p.Asn4553fs)duplication Pathogenic 802126 5:90083888-90083889 5:90788071-90788072
23 ADGRV1 NM_032119.4(ADGRV1):c.14467dup (p.Val4823fs)duplication Pathogenic 802127 5:90087111-90087112 5:90791294-90791295
24 ADGRV1 NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)SNV Pathogenic/Likely pathogenic 6798 rs121909762 5:89986808-89986808 5:90690991-90690991
25 ADGRV1 NM_032119.4(ADGRV1):c.12403+1G>TSNV Likely pathogenic 143158 rs527236132 5:90070121-90070121 5:90774304-90774304
26 ADGRV1 NM_032119.4(ADGRV1):c.15736C>T (p.Arg5246Ter)SNV Likely pathogenic 143159 rs527236131 5:90106813-90106813 5:90810996-90810996
27 ADGRV1 NM_032119.4(ADGRV1):c.1239-8C>GSNV Likely pathogenic 224743 rs869312178 5:89924371-89924371 5:90628554-90628554
28 ADGRV1 NM_032119.3:c.16079-1455_c.16196+155deldeletion Likely pathogenic 224744
29 ADGRV1 NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr)SNV Likely pathogenic 802125 5:90012307-90012307 5:90716490-90716490
30 ADGRV1 NM_032119.4(ADGRV1):c.16197-1G>TSNV Likely pathogenic 627433 rs1561805689 5:90119241-90119241 5:90823424-90823424
31 ADGRV1 NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter)SNV Likely pathogenic 627434 rs1561790371 5:90111486-90111486 5:90815669-90815669
32 ADGRV1 NM_032119.4(ADGRV1):c.12436C>T (p.Arg4146Ter)SNV Likely pathogenic 375405 rs369793306 5:90072302-90072302 5:90776485-90776485
33 ADGRV1 NC_000005.10:g.(90694702_90696936)_(90829187_90840577)deldeletion Likely pathogenic 623121 5:90694702-90840577
34 ADGRV1 NM_032119.4(ADGRV1):c.4487A>G (p.Tyr1496Cys)SNV Conflicting interpretations of pathogenicity 290823 rs376401006 5:89953830-89953830 5:90658013-90658013
35 ADGRV1 NM_032119.4(ADGRV1):c.9635T>C (p.Ile3212Thr)SNV Conflicting interpretations of pathogenicity 290825 rs199833843 5:90016763-90016763 5:90720946-90720946
36 ADGRV1 NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile)SNV Conflicting interpretations of pathogenicity 283512 rs202110635 5:90159576-90159576 5:90863759-90863759
37 ADGRV1 NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr)SNV Conflicting interpretations of pathogenicity 228706 rs375632680 5:90059129-90059129 5:90763312-90763312
38 ADGRV1 NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met)SNV Conflicting interpretations of pathogenicity 137500 rs199988872 5:89930940-89930940 5:90635123-90635123
39 ADGRV1 NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn)SNV Conflicting interpretations of pathogenicity 46342 rs41302834 5:89979568-89979568 5:90683751-90683751
40 ADGRV1 NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg)SNV Conflicting interpretations of pathogenicity 46348 rs41308846 5:89979871-89979871 5:90684054-90684054
41 ADGRV1 NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe)SNV Conflicting interpretations of pathogenicity 46359 rs193030567 5:89988464-89988464 5:90692647-90692647
42 ADGRV1 NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser)SNV Conflicting interpretations of pathogenicity 158647 rs200058876 5:89925314-89925314 5:90629497-90629497
43 ADGRV1 NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val)SNV Conflicting interpretations of pathogenicity 158655 rs114137750 5:90016778-90016778 5:90720961-90720961
44 ADGRV1 NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val)SNV Conflicting interpretations of pathogenicity 179159 rs200512504 5:89985746-89985746 5:90689929-90689929
45 ADGRV1 NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys)SNV Uncertain significance 178958 rs201583659 5:89990446-89990446 5:90694629-90694629
46 ADGRV1 NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe)SNV Uncertain significance 163601 rs200816323 5:90059182-90059182 5:90763365-90763365
47 ADGRV1 NM_032119.4(ADGRV1):c.8369A>G (p.Tyr2790Cys)SNV Uncertain significance 196987 rs751129081 5:90000288-90000288 5:90704471-90704471
48 ADGRV1 NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys)SNV Uncertain significance 198304 rs138908576 5:90070066-90070066 5:90774249-90774249
49 PDZD7 NM_001195263.2(PDZD7):c.878G>A (p.Arg293Gln)SNV Uncertain significance 198461 rs368026275 10:102780425-102780425 10:101020668-101020668
50 ADGRV1 NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys)SNV Uncertain significance 198666 rs370906851 5:90119376-90119376 5:90823559-90823559

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

73
# Symbol AA change Variation ID SNP ID
1 ADGRV1 p.Arg4789Trp VAR_068032 rs113169192
2 ADGRV1 p.His5978Arg VAR_068033 rs756460900

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 17)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.37 WHRN VEZT USH2A USH1G USH1C SLC4A7
2 cell projection GO:0042995 10.17 WHRN VEZT USH2A USH1C STRC SLC4A7
3 synapse GO:0045202 10.05 WHRN USH1C SLC4A7 PCDH15 MYO7A EGFLAM
4 cilium GO:0005929 9.95 WHRN PDZD7 PCARE CIB2 CEP250
5 photoreceptor outer segment GO:0001750 9.88 USH1C PCDH15 PCARE MYO7A CIB2 CEP250
6 ciliary basal body GO:0036064 9.84 WHRN USH2A USH1G CEP250
7 photoreceptor connecting cilium GO:0032391 9.8 WHRN USH2A USH1G USH1C PDZD7 MYO7A
8 stereocilium tip GO:0032426 9.76 WHRN USH1C STRC PDZD7
9 microvillus GO:0005902 9.73 USH1C MYO7A CLRN1
10 periciliary membrane compartment GO:1990075 9.67 WHRN USH2A ADGRV1
11 USH2 complex GO:1990696 9.67 WHRN USH2A PDZD7 ADGRV1
12 stereocilium membrane GO:0060171 9.65 VEZT USH2A ADGRV1
13 stereocilia ankle link GO:0002141 9.65 WHRN USH2A USH1C PDZD7 ADGRV1
14 photoreceptor inner segment GO:0001917 9.65 WHRN USH2A USH1G USH1C PDZD7 PCARE
15 stereocilia ankle link complex GO:0002142 9.63 WHRN VEZT USH2A USH1C PDZD7 ADGRV1
16 stereocilium bundle GO:0032421 9.57 WHRN USH2A
17 stereocilium GO:0032420 9.36 WHRN USH1C STRC SLC4A7 PDZD7 PCDH15

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 10.03 USH2A PCDH15 PCARE OPA1 MYO7A CLRN1
2 response to stimulus GO:0050896 10 USH2A PCARE OPA1 CLRN1 CDH23 ADGRV1
3 auditory receptor cell stereocilium organization GO:0060088 9.85 WHRN STRC PDZD7 PCDH15 MYO7A CLRN1
4 establishment of protein localization GO:0045184 9.81 WHRN USH2A PDZD7 ADGRV1
5 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.8 WHRN STRC PDZD7 PCDH15 ADGRV1
6 equilibrioception GO:0050957 9.8 USH1G USH1C PCDH15 MYO7A CLRN1 CDH23
7 inner ear receptor cell stereocilium organization GO:0060122 9.8 WHRN USH1G USH1C PCDH15 MYO7A CDH23
8 photoreceptor cell maintenance GO:0045494 9.76 USH2A USH1G USH1C PCDH15 CLRN1 CIB2
9 inner ear morphogenesis GO:0042472 9.73 USH1G USH1C MYO7A
10 inner ear development GO:0048839 9.72 PCDH15 MYO7A ADGRV1
11 auditory receptor cell development GO:0060117 9.67 SLC4A7 PDZD7 CLRN1
12 inner ear receptor cell differentiation GO:0060113 9.65 USH2A USH1G MYO7A
13 inner ear auditory receptor cell differentiation GO:0042491 9.63 USH1C PCDH15 MYO7A
14 sensory perception of light stimulus GO:0050953 9.61 WHRN USH2A USH1G USH1C PCDH15 MYO7A
15 maintenance of animal organ identity GO:0048496 9.54 USH2A ADGRV1
16 sensory perception of sound GO:0007605 9.36 WHRN USH2A USH1G USH1C STRC PDZD7

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 9.65 PCDH15 EGFLAM CIB2 CDH23 ADGRV1
2 protein homodimerization activity GO:0042803 9.5 WHRN USH2A USH1G PDZD7 MYO7A CIB2
3 myosin binding GO:0017022 9.16 VEZT USH2A
4 spectrin binding GO:0030507 8.8 USH1G USH1C MYO7A

Sources for Usher Syndrome, Type Iic

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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