| Retinitis Pigmentosa |
C0035334, 791 |
ABCA4
|
11527935, 16968212, 11594993, 20554613, 9781034, 30718709, 25312043, 26497376, 9973280 |
|
ACOX1
|
|
|
JAG1
|
|
|
AHR
|
29726989 |
|
AIRE
|
|
|
ARL3
|
26964041 |
|
ATP1A2
|
|
|
BBS1
|
12118255, 23143442, 30718709, 15770229 |
|
BBS2
|
25541840, 30718709 |
|
BBS4
|
|
|
BCS1L
|
|
|
CFAP410
|
|
|
CA4
|
15090652, 15563508 |
|
CACNA1A
|
|
|
CAV1
|
|
|
CHM
|
30718709 |
|
ERCC8
|
|
|
CLN3
|
24154662 |
|
CNGB1
|
25999674, 21987686, 21147909, 25943428, 28056120, 30718709, 11379879 |
|
CNGA1
|
7479749, 24265693, 30718709, 28981474, 25611614, 26306921 |
|
COX6B1
|
|
|
COX7B
|
|
|
COX8A
|
|
|
COX10
|
|
|
COX15
|
|
|
CRX
|
9792858, 11139241, 9427255 |
|
CTNS
|
|
|
ECHS1
|
|
|
ERCC3
|
|
|
ERCC6
|
|
|
GSS
|
|
|
GUCA1A
|
9425234 |
|
GUCA1B
|
21405999, 15452722 |
|
GUCY2D
|
16272259 |
|
HADHA
|
|
|
HADHB
|
|
|
HADH
|
|
|
HCCS
|
|
|
IDH3A
|
28412069, 30478029 |
|
IDH3B
|
18806796 |
|
IMPDH1
|
11875050, 16384941 |
|
MAK
|
21148103 |
|
ATP6
|
|
|
ND1
|
|
|
ND2
|
|
|
ND3
|
|
|
ND4
|
|
|
ND5
|
|
|
ND6
|
|
|
TRNK
|
|
|
TRNL1
|
|
|
TRNN
|
|
|
TRNS1
|
|
|
TRNV
|
|
|
TRNW
|
|
|
TRIM37
|
|
|
MYO7A
|
30718709 |
|
NDUFA2
|
|
|
NDUFA4
|
|
|
NDUFA9
|
|
|
NDUFA10
|
|
|
NDUFS1
|
|
|
NDUFS2
|
|
|
NDUFS3
|
|
|
NDUFV1
|
|
|
NDUFS4
|
|
|
NDUFS8
|
|
|
NDUFV2
|
|
|
NEK2
|
24043777 |
|
NPHP1
|
|
|
NRL
|
12796249, 10192380 |
|
PRDX1
|
|
|
PDE6A
|
25775262, 30718709, 10393062, 21151602, 21039428, 23134348, 17110911, 7493036 |
|
PDE6G
|
|
|
PDE6B
|
22334370, 26497376, 30718709, 26667666, 8394174, 25823529, 25097241, 7724547, 20591486 |
|
PDHA1
|
|
|
PEX1
|
|
|
PHYH
|
14974078, 9326939 |
|
PEX2
|
|
|
PEX5
|
|
|
RBP3
|
19074801, 23486466 |
|
RBP4
|
|
|
RDH5
|
|
|
PRPH2
|
30718709, 8449524 |
|
RGR
|
10581022, 16968212 |
|
RHO
|
19206210, 2137202, 8401533, 1833777, 2215617, 16737970, 1301135, 9391065, 18273801, 30718709, 9020854, 28715844, 11139241 |
|
RLBP1
|
10102299 |
|
ROM1
|
|
|
RP9
|
|
|
RP1
|
11095597, 26497376, 24265693, 16597330, 15863674, 10484783, 10391211 |
|
RP2
|
30718709 |
|
RPGR
|
12920075, 11992260, 10094550, 30718709, 10932196, 17480003 |
|
RPE65
|
28041994, 26626312, 30718709, 16205573, 11462243, 16968212, 21654732, 16272259, 9501220 |
|
SAG
|
9565049 |
|
ATXN7
|
|
|
SCN1A
|
|
|
SCO1
|
|
|
SDHA
|
|
|
SDHB
|
|
|
SDHD
|
|
|
SLC19A1
|
|
|
SURF1
|
|
|
TTPA
|
10896705 |
|
TUB
|
24375934 |
|
TULP1
|
|
|
USH2A
|
20507924, 21593743, 9624053, 10909849, 18273898, 30718709, 10775529, 21151602, 25133613, 10729113, 23940504, 15325563, 15025721, 11311042, 15015129, 24265693, 19881469 |
|
CLRN1
|
12080385 |
|
BEST1
|
30718709 |
|
WFS1
|
|
|
ALMS1
|
|
|
IFT88
|
29978320 |
|
MKKS
|
|
|
OFD1
|
22619378 |
|
PROM1
|
17605048 |
|
UNC119
|
11006213 |
|
PRPF4
|
24419317 |
|
PRPF3
|
|
|
SLC24A1
|
|
|
LARGE1
|
|
|
LRAT
|
18055821 |
|
IQCB1
|
30718709 |
|
CROCC
|
28041643 |
|
IFT140
|
26216056, 26497376 |
|
DHX38
|
30208423 |
|
NR2E3
|
30718709 |
|
NAALADL1
|
28041643 |
|
USH1C
|
30718709 |
|
TOPORS
|
17924349, 18509552, 30718709 |
|
IRX5
|
28041643 |
|
MERTK
|
11062461, 15111602, 24625443 |
|
POMT1
|
|
|
PRPF8
|
11468273 |
|
SDCCAG8
|
|
|
PNPLA6
|
|
|
IFT27
|
|
|
POLR3A
|
|
|
PDAP1
|
|
|
FASTKD2
|
|
|
ATF6
|
26029869 |
|
TRIM32
|
|
|
SNRNP200
|
19878916 |
|
TTLL5
|
|
|
ARHGEF18
|
28132693 |
|
CRB1
|
16272259, 10508521, 11389483, 21602930, 30718709, 26497376 |
|
PHF3
|
30718709, 29550188 |
|
ZFYVE26
|
|
|
ARL2BP
|
23849777 |
|
AMACR
|
|
|
AIPL1
|
16272259 |
|
PRPF6
|
|
|
FSCN2
|
|
|
MMACHC
|
|
|
ABHD12
|
24697911 |
|
PRPF31
|
|
|
IFT172
|
25168386 |
|
BBS9
|
|
|
FLVCR1
|
|
|
GMPPB
|
|
|
POMT2
|
|
|
SCAPER
|
28794130 |
|
RRM2B
|
|
|
IMPG2
|
|
|
WDPCP
|
|
|
NDUFA13
|
|
|
TACO1
|
|
|
LIPT1
|
|
|
NDUFB11
|
|
|
LZTFL1
|
|
|
CNGB3
|
30718709 |
|
AHI1
|
|
|
NCAPG2
|
|
|
MKS1
|
|
|
MSTO1
|
|
|
BBS7
|
|
|
RCBTB1
|
27486781 |
|
FOXRED1
|
|
|
POMGNT1
|
26908613 |
|
NGLY1
|
|
|
SPATA7
|
19268277 |
|
KIZ
|
24680887 |
|
NDUFA12
|
|
|
KLHL7
|
|
|
PRTFDC1
|
28041643 |
|
RPGRIP1
|
16272259 |
|
KIAA1549
|
30120214 |
|
SLC7A14
|
24670872 |
|
AGBL5
|
26720455 |
|
CDH23
|
30718709 |
|
SEMA4A
|
16199541 |
|
NDUFAF5
|
|
|
FKRP
|
|
|
BBS10
|
16582908 |
|
ZNF408
|
25882705 |
|
DHDDS
|
24078709, 29276052, 26261414, 21295283, 25255364, 21295282 |
|
PANK2
|
26497376 |
|
CEP290
|
30718709 |
|
SLC19A3
|
|
|
COL18A1
|
|
|
TMEM14B
|
|
|
ARL6
|
23219996, 21282186 |
|
FAM161A
|
26113502, 25097241, 30718709, 25999674, 20705278, 26574802 |
|
SLC37A3
|
28041643 |
|
COA8
|
|
|
COX14
|
|
|
NDUFAF2
|
|
|
CDHR1
|
30718709, 20087419 |
|
BBIP1
|
|
|
REEP6
|
27889058, 24691551 |
|
RP1L1
|
|
|
PRRT2
|
|
|
CYGB
|
|
|
C1QTNF5
|
|
|
COX20
|
|
|
CLRN1-AS1
|
12080385 |
|
TTC8
|
|
|
MTFMT
|
|
|
BBS5
|
|
|
ZNF513
|
|
|
NDUFAF6
|
|
|
HGSNAT
|
25859010 |
|
RDH12
|
31505163, 16968212, 30718709 |
|
FAM71A
|
28041643 |
|
NIPAL1
|
24265693, 7479749, 30718709, 26306921, 25611614, 28981474 |
|
CFAP418
|
22177090 |
|
BBS12
|
30718709 |
|
ARL13B
|
|
|
CCZ1B
|
28041643 |
|
RNASEH1
|
|
|
ZDHHC24
|
30718709, 12118255 |
|
MFSD8
|
|
|
CYP4V2
|
24480711 |
|
VSX2
|
|
|
EYS
|
25268133, 20537394, 22164218, 18836446, 30718709, 22581970, 18976725, 24265693, 26667666, 29550188, 25491159, 21069908 |
|
NDUFS7
|
|
|
CERKL
|
30718709, 25999674, 22164218, 21151602, 24043777, 14681825 |
|
PCARE
|
26497376, 21412943 |
|
UBAP1L
|
28041643 |
|
FOXI2
|
28041643 |
|
SDHAF1
|
|
|
PRCD
|
|
|
PET100
|
|
|
CFAP418-AS1
|
|
|
CDH23-AS1
|
30718709 |
| RETINITIS PIGMENTOSA 19 |
C1866422 |
ABCA4
|
26872967, 16103129, 28181551, 23755871, 9973280, 23695285, 24444108, 11726554 |
| RETINITIS PIGMENTOSA 83 |
C4748536 |
ARL3
|
26964041 |
| RETINITIS PIGMENTOSA 74 |
C4225281 |
BBS2
|
25541840 |
| Retinitis Pigmentosa 17 |
C1833245 |
CA4
|
17652713, 20450258, 15090652, 15563508 |
| RETINITIS PIGMENTOSA 45 |
C3151066 |
CNGB1
|
11379879 |
|
COL11A1
|
8872475 |
| RETINITIS PIGMENTOSA 49 |
C3151059 |
CNGA1
|
23462753, 25268133, 7479749, 15570217 |
|
NIPAL1
|
23462753, 25268133, 7479749 |
| Reflex Epilepsy, Photosensitive |
C0393720 |
CYP27A1
|
2019602 |
| RETINITIS PIGMENTOSA 48 |
C3151190 |
GUCA1B
|
15452722, 21405999 |
| RETINITIS PIGMENTOSA 79 |
C4479526 |
HK1
|
26427411, 25316723, 25190649, 28765615 |
| Retinitis Pigmentosa 46 |
C2675496 |
IDH3B
|
18806796 |
| Retinitis Pigmentosa 10 |
C1867299 |
IMPDH1
|
11875050, 16384941, 11875049 |
| Retinitis Pigmentosa 26 |
C1842127 |
ITGA4
|
|
|
CERKL
|
18978954, 27874104, 14681825, 28041643 |
| RETINITIS PIGMENTOSA 62 |
C3280042 |
MAK
|
21148103, 21825139, 21835304 |
|
TMEM14B
|
|
| RETINITIS PIGMENTOSA 67 |
C3809954 |
NEK2
|
|
| RETINITIS PIGMENTOSA 27 |
C1834329 |
NRL
|
22334370, 21981118, 15591106, 10192380, 11879142, 15994872, 11385710, 17335001 |
| RETINITIS PIGMENTOSA 43 |
C3151139 |
PDE6A
|
10393062, 7493036 |
| RETINITIS PIGMENTOSA 57 |
C3150821 |
PDE6G
|
20655036 |
| RETINITIS PIGMENTOSA 40 (disorder) |
C3151107 |
PDE6B
|
9543643, 8557257, 8595886, 26872967, 8956055, 8698075, 8394174, 22334370 |
| RETINITIS PIGMENTOSA 66 |
C3715216 |
RBP3
|
23486466, 19074801 |
| Retinitis Pigmentosa 7 |
C1842475 |
PRPH2
|
26796962, 8020945, 16799052, 19038374, 1427912, 11485765, 22334370, 7862413, 10627133, 1684223, 1749427 |
|
ROM1
|
|
| RETINITIS PIGMENTOSA 44 |
C3151068 |
RGR
|
10581022 |
| Retinitis Pigmentosa 4 |
C3151001 |
RHO
|
1302614, 2137202, 1985460, 19934218, 7633434, 1897520, 9452035, 8317502, 1862076, 19960070, 8045708, 1840561, 8081400, 1833777, 12566452, 8353500, 2215617, 7981701, 8088850, 2239971, 1391967, 8076945, 8554077, 7987326, 22334370, 7987331 |
| RETINITIS PIGMENTOSA 9 |
C1867300 |
RP9
|
12032732 |
| RETINITIS PIGMENTOSA 1 |
C0220701 |
RP1
|
15863674, 15933747, 19956407, 10484783, 22052604, 11095597, 22334370, 20664799, 10391211 |
| RETINITIS PIGMENTOSA 3 |
C1845667 |
RP2
|
|
|
RPGR
|
24981858, 9399904, 8817343, 9855162, 10737996, 11992260, 10482958, 11754051, 14564670, 12657579, 10970770, 11180598, 11754050, 10932196, 17195164, 10937588, 8673101 |
| RETINITIS PIGMENTOSA 2 (disorder) |
C2681923 |
RP2
|
10520237, 10634633, 22334370, 16472755, 12657579, 10090907, 10937588, 21738648, 10942419, 11992260, 11847227, 11462235, 9697692, 14564670, 15032968 |
| Retinitis Pigmentosa 20 |
C3151086 |
RPE65
|
20683928, 17724218, 26626312, 19431183, 18682808, 25752820, 18539930, 15024725, 26427455, 19117922, 26906952, 26024124, 10766140, 11095629, 16754667, 22334370, 19854499, 21911650, 12960219, 11462243, 20604683, 29681726, 15557452, 16828753, 9501220, 21153841, 21151602, 20079931, 16096063, 16150724, 19959640, 25495949, 28181551, 23878505 |
| RETINITIS PIGMENTOSA 47 |
C3151061 |
SAG
|
|
| RETINITIS PIGMENTOSA 33 (disorder) |
C1835895 |
SOX2
|
|
|
SNRNP200
|
19878916, 16723661, 21618346, 24319334, 19710410, 23029027, 23887765, 23045696 |
| Retinitis Pigmentosa 14 |
C1838603 |
TULP1
|
9462750, 19837063, 15557452, 9660588, 17620573 |
| RETINITIS PIGMENTOSA 39 (disorder) |
C3151138 |
USH2A
|
19737284, 23737954, 18273898, 21151602, 26856745, 15325563, 15015129, 26667666, 17085681, 17296898, 22581970, 25333064, 9624053, 28944237, 25404053, 12427073, 20052763, 18641288, 25324289, 21569298, 10738000, 19881469, 12112664, 25211151, 28512305, 28894305, 15241801, 18665195, 26927203, 16098008, 21738395, 17405132, 26338283, 27208204, 28041643, 25649381, 25425308, 25472526, 26633545, 23940504, 20145675, 10909849, 15671307, 11311042, 28761320, 22135276, 10729113, 24265693, 25991456, 24853665, 20497194, 27957503, 25575603, 20440071, 24516651, 25252889, 21593743, 27032803, 24498627, 26310143, 28005958, 28838317, 27318125, 24607488, 26969326, 19683999, 24901346, 23591405, 25356976, 18665192, 10775529, 25525159, 16963483, 25558175, 25133613, 25910913, 28000701, 27624628, 27353947, 24227914, 22004887, 24938718, 24160897, 24603341, 15025721, 12525556, 25342620, 22563300, 27583663, 23767834, 19788668, 22334370, 20507924, 27596865, 25366773, 28981474, 25412400, 25097241, 22009552, 20596040, 21686329, 24944099, 18452394, 27157150, 27344577, 24625443, 23755871, 27460420, 28157192, 15823922, 26496393 |
| RETINITIS PIGMENTOSA 61 |
C3280041 |
CLRN1
|
9719374, 21310491 |
|
CLRN1-AS1
|
|
| RETINITIS PIGMENTOSA, CONCENTRIC (disorder) |
C2750789 |
BEST1
|
15452077, 19853238 |
| RETINITIS PIGMENTOSA 41 (disorder) |
C2677516 |
PROM1
|
|
| RETINITIS PIGMENTOSA 70 |
C4014681 |
PRPF4
|
24419317, 25383878 |
| Retinitis Pigmentosa 18 |
C1832378 |
PRPF3
|
12714658, 17932117, 11773002 |
| RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED |
C2750065 |
LRAT
|
|
| RETINITIS PIGMENTOSA 80 |
C4540439 |
IFT140
|
26359340, 26968735, 26216056 |
| RETINITIS PIGMENTOSA 84 |
C4748725 |
DHX38
|
30208423, 24737827 |
| RETINITIS PIGMENTOSA 37 (disorder) |
C1970163 |
NR2E3
|
19006237, 10655056, 19273793, 21364904, 11071390, 24069298, 17438525, 23591405, 19898638, 15459973, 15689355, 12963616, 17564971, 27032803, 11773633, 18294254, 25097241 |
| Retinitis Pigmentosa 31 |
C1835923 |
TOPORS
|
|
| RETINITIS PIGMENTOSA 38 (disorder) |
C3151228 |
MERTK
|
11062461 |
| Retinitis Pigmentosa 13 |
C1838702 |
PRPF8
|
17317632, 12714658, 11468273, 11910553, 24938718 |
| RETINITIS PIGMENTOSA 78 |
C4479481 |
ARHGEF18
|
28132693 |
| RETINITIS PIGMENTOSA 12 (disorder) |
C1838647 |
CRB1
|
20079931, 16543197, 21987686, 20591486, 11559858, 22128245, 15459956, 24715753, 10508521, 11389483, 20956273, 19140180, 18055816, 12843338, 22334370, 27113771, 15024725, 26147992, 18682808, 23449718, 23379534, 21484995, 22065545, 28819299, 11231775, 25133751, 24512366, 19956407, 24265693, 23847139, 12573663, 28512305, 23462753, 22863181, 19401883 |
| Retinitis Pigmentosa 25 |
C1864446 |
PHF3
|
20375346, 21069908, 18976725, 20537394, 24474277, 26261414, 26161267 |
|
EYS
|
20333770, 26667666, 20696082, 26787102, 21069908, 26161267, 28704921, 18836446, 25097241, 18976725, 20537394, 24474277, 21217109, 20375346, 27208204, 25412400, 26261414, 25491159 |
| Retinitis Pigmentosa, Juvenile, Aipl1-Related |
C2751763 |
AIPL1
|
|
| RETINITIS PIGMENTOSA 60 |
C3151434 |
PRPF6
|
21549338 |
| RETINITIS PIGMENTOSA 30 |
C1842816 |
FSCN2
|
|
| Retinitis Pigmentosa 11 |
C1838601 |
PRPF31
|
12444105, 8808602, 12923864, 17412961, 11545739 |
| RETINITIS PIGMENTOSA 71 |
C4225342 |
IFT172
|
24140113, 25168386 |
|
KRTCAP3
|
|
| RETINITIS PIGMENTOSA 56 |
C3150819 |
IMPG2
|
|
| RETINITIS PIGMENTOSA 76 |
C4310704 |
POMGNT1
|
22554691, 15466003, 18330676, 22323514, 27604308, 28688748, 17030669, 25390965, 17559086, 19299310, 27391550, 11709191, 27421908, 17906881, 26908613, 15236414, 23326386, 21361872 |
| Retinitis Pigmentosa, Juvenile, SPATA7-Related |
C2751780 |
SPATA7
|
|
| RETINITIS PIGMENTOSA 69 |
C4014312 |
KIZ
|
24680887 |
| RETINITIS PIGMENTOSA 42 |
C2751986 |
KLHL7
|
20547956, 19520207, 22084217, 21828050 |
| RETINITIS PIGMENTOSA 68 |
C3810380 |
SLC7A14
|
24670872 |
|
SLC7A14-AS1
|
|
| RETINITIS PIGMENTOSA 75 |
C4310759 |
AGBL5
|
27842159, 26355662, 26720455, 27764769 |
| RETINITIS PIGMENTOSA 35 |
C1853214 |
SEMA4A
|
16199541, 22956603 |
| RETINITIS PIGMENTOSA 72 |
C4225315 |
ZNF408
|
25882705 |
| RETINITIS PIGMENTOSA 59 |
C3151227 |
DHDDS
|
27343064, 24664694, 21295283, 29100083, 25066056, 22110072, 21295282, 28130426 |
| RETINITIS PIGMENTOSA 55 |
C3150808 |
ARL6
|
19956407, 15258860, 19097054 |
| RETINITIS PIGMENTOSA 28 |
C1419614 |
FAM161A
|
26574802, 20705279, 23591405, 20705278, 25525159, 25097241, 24651477 |
| RETINITIS PIGMENTOSA 65 |
C3552852 |
CDHR1
|
|
| RETINITIS PIGMENTOSA 77 |
C4310626 |
REEP6
|
29120066, 24691551, 27889058, 28369466 |
| RETINITIS PIGMENTOSA 81 |
C4693443 |
IFT43
|
28973684 |
| RETINITIS PIGMENTOSA 36 |
C1864621 |
CYGB
|
|
|
PRCD
|
27613864, 24992209, 16938425 |
| RETINITIS PIGMENTOSA 51 |
C3150715 |
TTC8
|
20451172 |
| RETINITIS PIGMENTOSA 58 |
C3150879 |
ZNF513
|
20797688 |
| RETINITIS PIGMENTOSA 73 |
C4225287 |
HGSNAT
|
20825431, 25859010, 19823584, 17397050, 20583299, 23301227, 18024218, 27604308, 21048366, 19479962, 17033958 |
| RETINITIS PIGMENTOSA 53 |
C3150208 |
RDH12
|
|
| RETINITIS PIGMENTOSA 64 |
C3281046 |
CFAP418
|
|
|
CFAP418-AS1
|
|
| RETINITIS PIGMENTOSA 54 |
C3150691 |
PCARE
|
20398884, 21412943, 20398886 |
