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Retinitis pigmentosa

Disease Term Disease ID Gene Symbol References

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

 

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