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Entry Name Description Category Pathway Gene
H00527 Retinitis pigmentosa Retinitis pigmentosa (RP) is a group of inherited progressive retinal diseases characterized by progressive peripheral vision loss and night vision difficulties. RP can be divided into syndromic (40 %) ... Nervous system disease (RP1) RP1 [HSA:6101] [KO:K19538]
(RP2) RP2 [HSA:6102] [KO:K18272]
(RP3/RP15) RPGR [HSA:6103] [KO:K19607]
(RP4) RHO [HSA:6010] [KO:K04250]
(RP7) PRPH2 [HSA:5961] [KO:K17343]
(RP7) ROM1 [HSA:6094] [KO:K17344]
(RP9) RP9 [HSA:6100] [KO:K19604]
(RP10) IMPDH1 [HSA:3614] [KO:K00088]
(RP11) PRPF31 [HSA:26121] [KO:K12844]
(RP12) CRB1 [HSA:23418] [KO:K16681]
(RP13) PRPF8 [HSA:10594] [KO:K12856]
(RP14) TULP1 [HSA:7287] [KO:K19600]
(RP17) CA4 [HSA:762] [KO:K18246]
(RP18) PRPF3 [HSA:9129] [KO:K12843]
(RP19) ABCA4 [HSA:24] [KO:K05644]
(RP20/87) RPE65 [HSA:6121] [KO:K11158]
(RP23) OFD1 [HSA:8481] [KO:K16480]
(RP25) EYS [HSA:346007] [KO:K19601]
(RP26) CERKL [HSA:375298] [KO:K19602]
(RP27) NRL [HSA:4901] [KO:K09038]
(RP28) FAM161A [HSA:84140] [KO:K16772]
(RP30) FSCN2 [HSA:25794] [KO:K17455]
(RP31) TOPORS [HSA:10210] [KO:K10631]
(RP32) CLCC1 [HSA:23155] [KO:K22188]
(RP33) SNRNP200 [HSA:23020] [KO:K12854]
(RP35) SEMA4A [HSA:64218] [KO:K06521]
(RP36) PRCD [HSA:768206] [KO:K19637]
(RP37) NR2E3 [HSA:10002] [KO:K08546]
(RP38) MERTK [HSA:10461] [KO:K05117]
(RP39) USH2A [HSA:7399] [KO:K19636]
(RP40) PDE6B [HSA:5158] [KO:K13756]
(RP41) PROM1 [HSA:8842] [KO:K06532]
(RP42) KLHL7 [HSA:55975] [KO:K10445]
(RP43) PDE6A [HSA:5145] [KO:K08718]
(RP44) RGR [HSA:5995] [KO:K04254]
(RP45) CNGB1 [HSA:1258] [KO:K04952]
(RP46) IDH3B [HSA:3420] [KO:K00030]
(RP47/RP96) SAG [HSA:6295] [KO:K19627]
(RP48) GUCA1B [HSA:2979] [KO:K08328]
(RP49) CNGA1 [HSA:1259] [KO:K04948]
(RP50) BEST1 [HSA:7439] [KO:K13878]
(RP54) PCARE [HSA:388939] [KO:K24165]
(RP55) ARL6 [HSA:84100] [KO:K07951]
(RP56) IMPG2 [HSA:50939] [KO:K19017]
(RP57) PDE6G [HSA:5148] [KO:K13759]
(RP58) ZNF513 [HSA:130557] [KO:K24373]
(RP59) DHDDS [HSA:79947] [KO:K11778]
(RP60) PRPF6 [HSA:24148] [KO:K12855]
(RP61) CLRN1 [HSA:7401] [KO:K23841]
(RP62) MAK [HSA:4117] [KO:K08829]
(RP64) CFAP418 [HSA:157657] [KO:K25226]
(RP66) RBP3 [HSA:5949] [KO:K23911]
(RP67) NEK2 [HSA:4751] [KO:K20872]
(RP68) SLC7A14 [HSA:57709] [KO:K13871]
(RP69) KIZ [HSA:55857] [KO:K16539]
(RP70) PRPF4 [HSA:9128] [KO:K12662]
(RP71) IFT172 [HSA:26160] [KO:K19676]
(RP72) ZNF408 [HSA:79797] [KO:K24372]
(RP73) HGSNAT [HSA:138050] [KO:K10532]
(RP74) BBS2 [HSA:583] [KO:K16747]
(RP75) AGBL5 [HSA:60509] [KO:K23438]
(RP76) POMGNT1 [HSA:55624] [KO:K09666]
(RP77) REEP6 [HSA:92840] [KO:K17279]
(RP78) ARHGEF18 [HSA:23370] [KO:K21066]
(RP79) HK1 [HSA:3098] [KO:K00844]
(RP80) IFT140 [HSA:9742] [KO:K19672]
(RP81) IFT43 [HSA:112752] [KO:K19675]
(RP82) ARL2BP [HSA:23568] [KO:K16742]
(RP83) ARL3 [HSA:403] [KO:K07944]
(RP84) DHX38 [HSA:9785] [KO:K12815]
(RP85) AHR [HSA:196] [KO:K09093]
(RP86) RP86 [HSA:57670]
(RP88) RP1L1 [HSA:94137] [KO:K19538]
(RP89) KIF3B [HSA:9371] [KO:K20196]
(RP90) IDH3A [HSA:3419] [KO:K00030]
(RP91) IMPG1 [HSA:3617] [KO:K19016]
(RP92) HKDC1 [HSA:80201] [KO:K00844]
(RP93) CC2D2A [HSA:57545] [KO:K19352]
(RP94) SPATA7 [HSA:55812] [KO:K19655]
(RP95) RAX2 [HSA:84839] [KO:K09333]
(RP97) VWA8 [HSA:23078] [KO:K24512]
(Bothnia retinal dystrophy) RLBP1 [HSA:6017] [KO:K19625]
H00814 Vitelliform macular dystrophy Vitelliform macular dystrophy is characterized by autosomal dominant inheritance and autofluorescent deposits within and beneath the retinal pigment epithelium. The onset of Juvenile vitelliform macular ... Nervous system disease (VMD2/ AVMD/ ARB) BEST1 [HSA:7439] [KO:K13878]
(VMD3/ AVMD) PRPH2 [HSA:5961] [KO:K17343]
(VMD4) IMPG1 [HSA:3617] [KO:K19016]
(VMD5) IMPG2 [HSA:50939] [KO:K19017]
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