5,898
|
55706 |
RPGRIP1
|
|
is localized in
|
photoreceptor connecting cilium
|
|
|
22825473
|
Bardet-Biedl syndrome 16
Ciliopathy
|
7,012
|
70831 |
CEP290
|
|
is localized in
|
ciliary basal body
|
|
|
27385962
|
Diabetes mellitus, type II
Insulin resistance
Bardet-Biedl syndrome
Ciliopathy
|
7,032
|
68944 |
CEP290
|
|
affects_activity of
|
Leber congenital amaurosis 10
|
|
|
|
Senior-Loken syndrome
Ciliopathy
|
7,065
|
69483 |
CEP290
|
|
is_part_of
|
CEP290-IQCB1 complex
|
|
69497 |
CEP290
|
|
increases_activity of
|
cilium assembly
|
|
|
|
Nephronophthisis
Senior-Loken syndrome 3
Ciliopathy
|
7,070
|
69566 |
CEP290
|
|
is_part_of
|
Tectonic ciliopathy complex
|
|
|
|
Joubert syndrome
Meckel syndrome
Ciliopathy
|
8,734
|
142712 |
IMPDH1
|
|
affects_activity of
|
Leber congenital amaurosis 11
|
|
|
16384941
|
Leber congenital amaurosis 11
Ciliopathy
Retinitis pigmentosa 10
|
8,741
|
142713 |
IMPDH1
|
|
is localized in
|
photoreceptor inner segment
|
|
|
16936083
|
Leber congenital amaurosis 11
Ciliopathy
Retinitis pigmentosa 10
|
12,546
|
122010 |
KCNJ13
|
|
affects_activity of
|
Leber congenital amaurosis 16
|
|
|
21763485
|
Developmental
Ophtalmological
Leber congenital amaurosis 16
Ciliopathy
|
13,400
|
126511 |
RPGRIP1
|
|
affects_activity of
|
Leber congenital amaurosis 6
|
|
126515 |
SPATA7
|
|
affects_activity of
|
Leber congenital amaurosis 3
|
|
126518 |
TULP1
|
|
affects_activity of
|
Leber congenital amaurosis 15
|
|
126538 |
TUBB4B
|
|
affects_activity of
|
Leber congenital amaurosis with early-onset deafness
|
|
|
30915099
|
Ophtalmological
Ciliopathy
|
15,174
|
142406 |
CEP290
|
|
is localized in
|
ciliary transition zone
|
|
142409 |
LCA5
|
|
is localized in
|
ciliary transition zone
|
|
142415 |
RPGRIP1
|
|
is localized in
|
ciliary transition zone
|
|
142431 |
CEP290
|
|
is localized in
|
centriolar satellite
|
|
|
|
Ciliopathy
|
15,203
|
142623 |
Leber congenital amaurosis
|
|
increases_activity of
|
blindness
|
in childhood
|
142626 |
SPATA7
|
|
affects_activity of
|
Leber congenital amaurosis 3
|
|
142627 |
AIPL1
|
|
affects_activity of
|
Leber congenital amaurosis 4
|
|
142629 |
RPGRIP1
|
|
affects_activity of
|
Leber congenital amaurosis 6
|
|
142630 |
CRX
|
|
affects_activity of
|
Leber congenital amaurosis 7
|
|
142631 |
CRB1
|
|
affects_activity of
|
Leber congenital amaurosis 8
|
|
142632 |
NMNAT1
|
|
affects_activity of
|
Leber congenital amaurosis 9
|
|
142633 |
CEP290
|
|
affects_activity of
|
Leber congenital amaurosis 10
|
|
142634 |
IMPDH1
|
|
affects_activity of
|
Leber congenital amaurosis 11
|
|
142635 |
RD3
|
|
affects_activity of
|
Leber congenital amaurosis 12
|
|
142636 |
RDH12
|
|
affects_activity of
|
Leber congenital amaurosis 13
|
|
142637 |
LRAT
|
|
affects_activity of
|
Leber congenital amaurosis 14
|
|
142638 |
TULP1
|
|
affects_activity of
|
Leber congenital amaurosis 15
|
|
142639 |
KCNJ13
|
|
affects_activity of
|
Leber congenital amaurosis 16
|
|
142640 |
PRPH2
|
|
affects_activity of
|
Leber congenital amaurosis 18
|
|
142641 |
IQCB1
|
|
affects_activity of
|
Leber congenital amaurosis
|
|
142648 |
GDF6
|
|
affects_activity of
|
Leber congenital amaurosis 17
|
|
142657 |
TUBB4B
|
|
affects_activity of
|
Leber congenital amaurosis with early-onset deafness
|
|
142658 |
USP45
|
|
affects_activity of
|
Leber congenital amaurosis 19
|
|
142660 |
GUCY2D
|
|
affects_activity of
|
phototransduction
|
|
142661 |
AIPL1
|
|
affects_activity of
|
phototransduction
|
|
142662 |
RD3
|
|
affects_activity of
|
phototransduction
|
|
142663 |
KCNJ13
|
|
affects_activity of
|
phototransduction
|
|
142664 |
RPE65
|
|
affects_activity of
|
retinoid metabolic process
|
|
142665 |
LRAT
|
|
affects_activity of
|
retinoid metabolic process
|
|
142666 |
RDH12
|
|
affects_activity of
|
retinoid metabolic process
|
|
142668 |
CEP290
|
|
affects_activity of
|
intraciliary transport
|
|
142669 |
RPGRIP1
|
|
affects_activity of
|
intraciliary transport
|
|
142670 |
SPATA7
|
|
affects_activity of
|
intraciliary transport
|
|
142671 |
TULP1
|
|
affects_activity of
|
intraciliary transport
|
|
142672 |
IQCB1
|
|
affects_activity of
|
intraciliary transport
|
|
142673 |
CRX
|
|
affects_activity of
|
photoreceptor cell morphogenesis
|
|
142674 |
CRB1
|
|
affects_activity of
|
photoreceptor cell morphogenesis
|
|
142675 |
GDF6
|
|
affects_activity of
|
photoreceptor cell morphogenesis
|
|
142676 |
PRPH2
|
|
affects_activity of
|
photoreceptor cell morphogenesis
|
|
142677 |
IMPDH1
|
|
affects_activity of
|
guanine biosynthetic process
|
|
|
|
Leber congenital amaurosis
Ciliopathy
|
15,204
|
142679 |
GUCY2D
|
|
is localized in
|
photoreceptor outer segment
|
|
142682 |
CRB1
|
|
is localized in
|
photoreceptor inner segment
|
|
142683 |
CEP290
|
|
is localized in
|
ciliary basal body
|
in photoreceptor connecting cilium
|
142684 |
RDH12
|
|
is localized in
|
photoreceptor inner segment
|
|
142687 |
SPATA7
|
|
is localized in
|
photoreceptor inner segment
|
|
142695 |
TULP1
|
|
is localized in
|
photoreceptor inner segment
|
|
142696 |
PRPH2
|
|
is localized in
|
photoreceptor outer segment
|
|
142697 |
IQCB1
|
|
is localized in
|
cilium
|
|
142698 |
IQCB1
|
|
interacts (colocalizes) with
|
CEP290
|
|
|
|
Leber congenital amaurosis
Ciliopathy
|
15,205
|
142699 |
USP45
|
|
affects_activity of
|
Leber congenital amaurosis 19
|
|
142702 |
USP45
|
|
is localized in
|
photoreceptor inner segment
|
|
|
|
Leber congenital amaurosis
Ciliopathy
|
15,207
|
142707 |
USP45
|
|
is_part_of
|
SPDL1-USP45 complex
|
|
142709 |
SPDL1-USP45 complex
|
|
increases_activity of
|
protein deubiquitination
|
|
|
|
Cancer
|
15,208
|
142714 |
NMNAT1
|
|
affects_activity of
|
Leber congenital amaurosis 9
|
|
|
|
Leber congenital amaurosis
Ciliopathy
|
15,210
|
142724 |
NMNAT1
|
|
is localized in
|
photoreceptor outer segment
|
data from high-throughput experiment
|
|
|
Leber congenital amaurosis
Ciliopathy
|
15,239
|
143515 |
GUCY2D
|
|
affects_activity of
|
Leber congenital amaurosis 1
|
|
|
|
Leber congenital amaurosis
Ciliopathy
|
15,247
|
143692 |
CEP290
|
|
is localized in
|
photoreceptor connecting cilium
|
in photoreceptor cells
|
143731 |
SPATA7
|
|
is localized in
|
photoreceptor connecting cilium
|
in photoreceptor cells
|
143741 |
TULP1
|
|
is localized in
|
photoreceptor connecting cilium
|
in photoreceptor cells
|
143780 |
PRPH2
|
|
affects_activity of
|
photoreceptor cell outer segment organization
|
|
|
|
Ciliopathy
|
15,249
|
143853 |
GUCY2D
|
|
is_part_of
|
DNAJB6-GUCY2D-HSPA8-RHO complex
|
|
|
|
Ciliopathy
|
15,261
|
144235 |
RD3
|
|
is localized in
|
photoreceptor outer segment
|
|
144242 |
RD3
|
|
interacts (colocalizes) with
|
GUCY2D
|
in retina
|
144244 |
GUCY2D
|
|
is localized in
|
photoreceptor outer segment
|
in retinal cone cells, in retinal rod cells
|
|
|
Leber congenital amaurosis
Ciliopathy
|
15,265
|
144289 |
RPE65
|
|
affects_activity of
|
Leber congenital amaurosis 2
|
|
|
|
Leber congenital amaurosis
Ciliopathy
|
15,268
|
144321 |
RPE65
|
|
affects_activity of
|
retinoid visual cycle
|
|
|
|
Leber congenital amaurosis
Ciliopathy
|
15,269
|
144322 |
RPE65
|
|
increases_activity of
|
carotenoid metabolic process
|
in HEK293T cells
|
|
|
Leber congenital amaurosis
Ciliopathy
|
15,276
|
144394 |
SPATA7
|
|
is localized in
|
photoreceptor connecting cilium
|
|
144459 |
SPATA7
|
|
interacts (colocalizes) with
|
RPGRIP1
|
|
|
|
Leber congenital amaurosis
Ciliopathy
|
15,278
|
144469 |
SPATA7
|
|
affects_activity of
|
Leber congenital amaurosis 3
|
|
|
|
Leber congenital amaurosis
Ciliopathy
|
15,282
|
144524 |
AIPL1
|
|
affects_activity of
|
Leber congenital amaurosis 4
|
|
|
|
Leber congenital amaurosis
Ciliopathy
|
15,293
|
144614 |
AIPL1
|
|
affects_activity of
|
retinal photoreceptor degeneration
|
|
144619 |
AIPL1
|
|
affects_activity of
|
photoreceptor outer segment
|
|
|
|
Leber congenital amaurosis
Ciliopathy
|
15,297
|
144663 |
AIPL1
|
|
increases_activity of
|
GUCY2D
|
in retinal cones
|
|
|
Leber congenital amaurosis
Ciliopathy
|
15,300
|
144671 |
LCA5
|
|
affects_activity of
|
Leber congenital amaurosis 5
|
|
|
|
Leber congenital amaurosis
Ciliopathy
|
15,305
|
144695 |
LCA5
|
|
is localized in
|
photoreceptor connecting cilium
|
in retinal photoreceptor cells
|
144697 |
LCA5
|
|
affects_activity of
|
photoreceptor cell outer segment organization
|
|
144703 |
LCA5
|
|
affects_activity of
|
intraciliary transport
|
in photoreceptor cell cilium
|
|
|
Leber congenital amaurosis
Ciliopathy
|