|
8,760
|
| 91383 |
MYO7A
|
|
affects_activity of
|
Retinitis pigmentosa
|
|
| 91385 |
CDH23
|
|
affects_activity of
|
Retinitis pigmentosa
|
|
| 91387 |
PCDH15
|
|
affects_activity of
|
Retinitis pigmentosa
|
|
| 91389 |
USH1C
|
|
affects_activity of
|
Retinitis pigmentosa
|
|
| 91391 |
USH1G
|
|
affects_activity of
|
Retinitis pigmentosa
|
|
| 91393 |
CIB2
|
|
affects_activity of
|
Retinitis pigmentosa
|
|
| 91395 |
CLRN1
|
|
affects_activity of
|
Retinitis pigmentosa
|
|
| 91399 |
USH2A
|
|
affects_activity of
|
Usher syndrome, type IIA
|
|
| 91400 |
ADGRV1
|
|
affects_activity of
|
Retinitis pigmentosa
|
|
| 91402 |
WHRN
|
|
affects_activity of
|
Retinitis pigmentosa
|
|
| 91404 |
HARS1
|
|
affects_activity of
|
Retinitis pigmentosa
|
|
| 91408 |
MYO7A
|
|
increases_activity of
|
photoreceptor
|
|
| 91409 |
MYO7A
|
|
increases_activity of
|
cochlear hair cell
|
|
| 91410 |
CDH23
|
|
increases_activity of
|
cochlear hair cell
|
|
| 91413 |
USH1C
|
|
increases_activity of
|
cochlear hair cell
|
|
| 91414 |
USH1G
|
|
increases_activity of
|
cochlear hair cell
|
|
| 91415 |
CIB2
|
|
increases_activity of
|
photoreceptor
|
|
| 91416 |
WHRN
|
|
increases_activity of
|
cochlear hair cell
|
|
|
28721681
|
Retinitis pigmentosa
Ciliopathy
|
|
13,400
|
| 126520 |
USH2A
|
|
affects_activity of
|
Usher syndrome, type IIA
|
|
| 126528 |
ADGRV1
|
|
affects_activity of
|
Usher syndrome, type IIC
|
|
| 126529 |
ARSG
|
|
affects_activity of
|
Usher syndrome, type IV
|
|
| 126530 |
CDH23
|
|
affects_activity of
|
Usher syndrome, type ID
|
|
| 126532 |
CIB2
|
|
affects_activity of
|
Usher syndrome, type IJ
|
|
| 126533 |
HARS1
|
|
affects_activity of
|
Usher syndrome type IIIB
|
|
| 126534 |
MYO7A
|
|
affects_activity of
|
Usher syndrome, type IB
|
|
| 126535 |
PCDH15
|
|
affects_activity of
|
Usher syndrome, type IF
|
|
| 126536 |
PDZD7
|
|
affects_activity of
|
Usher syndrome, type IIC, GPR98/PDZD7 digenic
|
|
| 126537 |
USH1G
|
|
affects_activity of
|
Usher syndrome, type IG
|
|
| 126539 |
USH1C
|
|
affects_activity of
|
Usher syndrome, type IC
|
|
| 126543 |
WHRN
|
|
affects_activity of
|
Usher syndrome, type IID
|
|
|
30915099
|
Ophtalmological
Ciliopathy
|
|
14,655
|
| 137999 |
MYO7A
|
|
affects_activity of
|
impaired hearing
|
|
|
32937936
|
Hearing loss
|
|
14,741
|
| 138699 |
MYO7A
|
|
affects_activity of
|
Usher syndrome, type IB
|
|
| 138700 |
USH1C
|
|
affects_activity of
|
Usher syndrome, type IC
|
|
| 138701 |
CDH23
|
|
affects_activity of
|
Usher syndrome, type ID
|
|
| 138702 |
PCDH15
|
|
affects_activity of
|
Usher syndrome, type IF
|
|
| 138703 |
USH1G
|
|
affects_activity of
|
Usher syndrome, type IG
|
|
| 138704 |
CIB2
|
|
affects_activity of
|
Usher syndrome, type IJ
|
|
| 138705 |
USH2A
|
|
affects_activity of
|
Usher syndrome, type IIA
|
|
| 138706 |
ADGRV1
|
|
affects_activity of
|
Usher syndrome, type IIC
|
|
| 138707 |
WHRN
|
|
affects_activity of
|
Usher syndrome, type IID
|
|
| 138708 |
CLRN1
|
|
affects_activity of
|
Usher syndrome, type IIIA
|
|
| 138709 |
HARS1
|
|
affects_activity of
|
Usher syndrome type IIIB
|
|
| 138715 |
USH1G
|
|
interacts (colocalizes) with
|
USH1C
|
|
| 138718 |
WHRN
|
|
interacts (colocalizes) with
|
ADGRV1
|
|
| 138719 |
WHRN
|
|
interacts (colocalizes) with
|
USH2A
|
|
|
33920085
|
Ciliopathy
Usher syndrome
|
|
14,742
|
| 138723 |
MYO7A
|
|
affects_activity of
|
Usher syndrome, type IB
|
|
| 138724 |
MYO7A
|
|
affects_activity of
|
deafness
|
|
|
9171832
|
Ciliopathy
Usher syndrome
|
|
14,745
|
| 138733 |
MYO7A
|
|
is localized in
|
cilium
|
in cochlear hair cells, in olfactory neurons, in kidney distal tubules, in lung bronchi
|
|
9678669
|
Ciliopathy
Usher syndrome
|
|
14,746
|
| 138736 |
MYO7A
|
|
affects_activity of
|
photoreceptor connecting cilium
|
|
|
10414956
|
Ciliopathy
Usher syndrome
|
|
14,753
|
| 138758 |
MYO7A
|
|
is_part_of
|
MYO7A-USH1C-USH1G complex
|
|
| 138759 |
USH1G
|
|
is_part_of
|
MYO7A-USH1C-USH1G complex
|
|
| 138760 |
USH1C
|
|
is_part_of
|
MYO7A-USH1C-USH1G complex
|
|
|
21709241
|
Ciliopathy
Usher syndrome
|
|
14,754
|
| 138762 |
CDH23
|
|
is_part_of
|
Stereocilium tip link complex
|
|
| 138764 |
PCDH15
|
|
is_part_of
|
Stereocilium tip link complex
|
|
|
17805295
|
Ciliopathy
Usher syndrome
|
|
14,757
|
| 138787 |
MYO7A
|
|
interacts (colocalizes) with
|
WHRN
|
|
| 138788 |
MYO7A
|
|
interacts (colocalizes) with
|
USH1C
|
|
| 138789 |
USH1G
|
|
interacts (colocalizes) with
|
WHRN
|
|
| 138790 |
USH1G
|
|
interacts (colocalizes) with
|
USH1C
|
|
| 138791 |
PCDH15
|
|
interacts (colocalizes) with
|
WHRN
|
|
| 138792 |
PCDH15
|
|
interacts (colocalizes) with
|
USH1C
|
|
| 138793 |
USH2A
|
|
interacts (colocalizes) with
|
WHRN
|
|
| 138794 |
USH2A
|
|
interacts (colocalizes) with
|
USH1C
|
|
| 138795 |
ADGRV1
|
|
interacts (colocalizes) with
|
WHRN
|
|
| 138796 |
ADGRV1
|
|
interacts (colocalizes) with
|
USH1C
|
|
| 138797 |
CDH23
|
|
interacts (colocalizes) with
|
WHRN
|
|
| 138798 |
CDH23
|
|
interacts (colocalizes) with
|
USH1C
|
|
|
16987892
|
Ciliopathy
Usher syndrome
|
|
14,758
|
| 138799 |
USH1C
|
|
interacts (colocalizes) with
|
PCDH15
|
|
| 138800 |
USH1C
|
|
interacts (colocalizes) with
|
USH1G
|
|
| 138801 |
USH1G
|
|
interacts (colocalizes) with
|
MYO7A
|
|
|
15590703
|
Ciliopathy
Usher syndrome
|
|
14,759
|
| 138803 |
USH1C
|
|
interacts (colocalizes) with
|
USH2A
|
|
| 138804 |
USH1C
|
|
interacts (colocalizes) with
|
ADGRV1
|
|
|
16301216
|
Ciliopathy
Usher syndrome
|
|
14,760
|
| 138815 |
WHRN
|
|
interacts (colocalizes) with
|
USH2A
|
in synaptic region of photoreceptor cells, in synaptic region of cochlea outer hair cells
|
| 138816 |
WHRN
|
|
interacts (colocalizes) with
|
ADGRV1
|
in synaptic region of photoreceptor cells, in synaptic region of cochlea outer hair cells
|
| 138817 |
WHRN
|
|
is localized in
|
photoreceptor connecting cilium
|
|
| 138818 |
USH2A
|
|
is localized in
|
photoreceptor connecting cilium
|
|
| 138819 |
ADGRV1
|
|
is localized in
|
photoreceptor connecting cilium
|
|
|
16434480
|
Ciliopathy
Usher syndrome
|
|
14,761
|
| 138828 |
USH2A
|
|
interacts (colocalizes) with
|
WHRN
|
|
| 138829 |
USH2A
|
|
interacts (colocalizes) with
|
USH1C
|
|
|
16301217
|
Ciliopathy
Usher syndrome
|
|
14,762
|
| 138830 |
PCDH15
|
|
interacts (colocalizes) with
|
USH1C
|
|
|
15928608
|
Ciliopathy
Usher syndrome
|
|
14,763
|
| 138832 |
CDH23
|
|
is_part_of
|
CDH23-USH1C complex
|
|
| 138838 |
USH1C
|
|
is_part_of
|
CDH23-USH1C complex
|
|
|
12407180
|
Ciliopathy
Usher syndrome
|
|
14,765
|
| 138834 |
USH1C
|
|
interacts (colocalizes) with
|
CDH23
|
in growing cochlear hair cell stereocilia
|
| 138842 |
USH1C
|
|
interacts (colocalizes) with
|
MYO7A
|
|
|
12485990
|
Ciliopathy
Usher syndrome
|
|
14,767
|
| 138836 |
PCDH15
|
|
interacts (colocalizes) with
|
MYO7A
|
|
|
16481439
|
Ciliopathy
Usher syndrome
|
|
14,768
|
| 138865 |
USH1C
|
|
affects_activity of
|
Usher syndrome, type IC
|
|
|
10973247
|
Ciliopathy
Usher syndrome
|
|
14,770
|
| 138869 |
USH1C
|
|
affects_activity of
|
Retinitis pigmentosa
|
|
| 138870 |
USH1C
|
|
affects_activity of
|
impaired hearing
|
|
|
21487335
|
Ciliopathy
Usher syndrome
|
|
14,771
|
| 138873 |
MYO7A
|
|
interacts (colocalizes) with
|
PDZD7
|
|
| 138874 |
MYO7A
|
|
affects_activity of
|
USH2A
|
at the ankle link, in cochlear hair cells
|
| 138875 |
MYO7A
|
|
affects_activity of
|
ADGRV1
|
at the ankle link, in cochlear hair cells
|
| 138876 |
MYO7A
|
|
affects_activity of
|
WHRN
|
at the ankle link, in cochlear hair cells
|
| 138877 |
MYO7A
|
|
affects_activity of
|
PDZD7
|
at the ankle link, in cochlear hair cells
|
| 138878 |
USH1G
|
|
interacts (colocalizes) with
|
ADGRV1
|
|
| 138879 |
MYO7A
|
|
increases_quantity of
|
USH2 complex
|
at the ankle link, in cochlear hair cells
|
|
28031293
|
Ciliopathy
Usher syndrome
|
|
14,772
|
| 138880 |
USH2A
|
|
is_part_of
|
USH2 complex
|
|
| 138881 |
WHRN
|
|
is_part_of
|
USH2 complex
|
|
| 138882 |
ADGRV1
|
|
is_part_of
|
USH2 complex
|
|
| 138883 |
PDZD7
|
|
is_part_of
|
USH2 complex
|
|
|
25406310
|
Ciliopathy
Usher syndrome
|
|
14,773
|
| 138884 |
USH1G
|
|
is_part_of
|
USH1G-USH2A-WHRN complex
|
in photoreceptor cells
|
| 138885 |
USH2A
|
|
is_part_of
|
USH1G-USH2A-WHRN complex
|
in photoreceptor cells
|
| 138886 |
WHRN
|
|
is_part_of
|
USH1G-USH2A-WHRN complex
|
in photoreceptor cells
|
| 138887 |
USH1G-USH2A-WHRN complex
|
|
interacts (colocalizes) with
|
ciliary base
|
in photoreceptor cells
|
|
|
Ciliopathy
Usher syndrome
|
|
14,774
|
| 138904 |
HARS1
|
|
affects_activity of
|
blindness
|
|
| 138905 |
HARS1
|
|
affects_activity of
|
Retinitis pigmentosa
|
|
| 138906 |
HARS1
|
|
affects_activity of
|
Usher syndrome type IIIB
|
in Amish patients
|
| 138909 |
HARS1
|
|
affects_activity of
|
impaired hearing
|
|
|
22279524
|
Ciliopathy
Usher syndrome
|
|
14,776
|
| 138914 |
USH2A
|
|
affects_activity of
|
Usher syndrome, type IIA
|
|
|
19881469
|
Ciliopathy
Usher syndrome
|
|
14,778
|
| 138926 |
ARSG
|
|
affects_activity of
|
Usher syndrome, type IV
|
|
| 138928 |
ARSG
|
|
affects_activity of
|
impaired hearing
|
|
| 138930 |
ARSG
|
|
affects_activity of
|
blindness
|
|
|
29300381
|
Ciliopathy
Usher syndrome
|
|
14,779
|
| 138893 |
ARSG
|
|
affects_activity of
|
Usher syndrome, type IV
|
|
| 138932 |
ARSG
|
|
affects_activity of
|
Retinitis pigmentosa
|
|
|
33300174
|
Ciliopathy
Usher syndrome
|
|
14,780
|
| 138936 |
ARSG
|
|
affects_activity of
|
Usher syndrome, type IV
|
|
|
32455177
|
Ciliopathy
Usher syndrome
|
|
14,781
|
| 138895 |
CLRN1
|
|
affects_activity of
|
Usher syndrome, type IIIA
|
|
| 138941 |
CLRN1
|
|
affects_activity of
|
impaired hearing
|
|
| 138942 |
CLRN1
|
|
affects_activity of
|
Retinitis pigmentosa
|
|
|
12145752
|
Ciliopathy
Usher syndrome
|
|
14,787
|
| 138961 |
USH2A
|
|
affects_activity of
|
Retinitis pigmentosa
|
|
| 138962 |
USH2A
|
|
affects_activity of
|
impaired hearing
|
|
|
10729113
|
Ciliopathy
Usher syndrome
|
CIDeRplus