Search Result |
Top |
Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00454 | Oral-facial-digital syndrome | ... of the face, oral cavity and digits. OFD type I is a male lethal disorder and due to mutations in the OFD1 gene on the X chromosome. OFD type IV is due to mutations in the TCTN3 gene and patients have tibial ... | Congenital malformation |
(OFD1) OFD1 [HSA:8481] [KO:K16480] (OFD4) TCTN3 [HSA:26123] [KO:K19382] (OFD5) DDX59 [HSA:83479] [KO:K19466] (OFD6) CPLANE1 [HSA:65250] [KO:K22859] (OFD14) C2CD3 [HSA:26005] [KO:K16751] (OFD15) JBTS38 [HSA:9851] [KO:K21765] (OFD16) TMEM107 [HSA:84314] [KO:K22764] (OFD17) INTU [HSA:27152] [KO:K22862] (OFD18) IFT57 [HSA:55081] [KO:K04638] (OFD19) SCNM1 [HSA:79005] [KO:K24827] (OFD20) RAB34 [HSA:83871] [KO:K07921] |
|
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] |
|
H00530 | Joubert syndrome and related disorders | Joubert syndrome (JBTS) and related disorders are a group of multiple congenital anomaly syndromes characterized by 'molar tooth sign', a specific midbrain-hindbrain malformation seen in brain images. ... | Congenital malformation |
(JBTS1) INPP5E [HSA:56623] [KO:K20278] (JBTS2) TMEM216 [HSA:51259] [KO:K19385] (JBTS3) AHI1 [HSA:54806] [KO:K16740] (JBTS4) NPHP1 [HSA:4867] [KO:K19657] (JBTS5) CEP290 [HSA:80184] [KO:K16533] (JBTS6) TMEM67 [HSA:91147] [KO:K19348] (JBTS7) RPGRIP1L [HSA:23322] [KO:K16550] (JBTS8) ARL13B [HSA:200894] [KO:K07962] (JBTS9) CC2D2A [HSA:57545] [KO:K19352] (JBTS10) OFD1 [HSA:8481] [KO:K16480] (JBTS11) TTC21B [HSA:79809] [KO:K19673] (JBTS12) KIF7 [HSA:374654] [KO:K18806] (JBTS13) TCTN1 [HSA:79600] [KO:K19382] (JBTS14) TMEM237 [HSA:65062] [KO:K22765] (JBTS15) CEP41 [HSA:95681] [KO:K16455] (JBTS16) TMEM138 [HSA:51524] [KO:K22867] (JBTS17) CPLANE1 [HSA:65250] [KO:K22859] (JBTS18) TCTN3 [HSA:26123] [KO:K19382] (JBTS19) ZNF423 [HSA:23090] [KO:K22870] (JBTS20) TMEM231 [HSA:79583] [KO:K19362] (JBTS21) CSPP1 [HSA:79848] [KO:K16771] (JBTS22) PDE6D [HSA:5147] [KO:K13758] (JBTS23) JBTS23 [HSA:9786] [KO:K22865] (JBTS24) TCTN2 [HSA:79867] [KO:K19361] (JBTS25) CEP104 [HSA:9731] [KO:K16458] (JBTS26) KATNIP [HSA:23247] [KO:K22858] (JBTS27) B9D1 [HSA:27077] [KO:K16744] (JBTS28) MKS1 [HSA:54903] [KO:K19332] (JBTS29) TMEM107 [HSA:84314] [KO:K22764] (JBTS30) ARMC9 [HSA:80210] [KO:K22864] (JBTS31) CEP120 [HSA:153241] [KO:K16459] (JBTS32) SUFU [HSA:51684] [KO:K06229] (JBTS33) PIBF1 [HSA:10464] [KO:K16538] (JBTS34) B9D2 [HSA:80776] [KO:K16745] (JBTS35) ARL3 [HSA:403] [KO:K07944] (JBTS36) FAM149B1 [HSA:317662] [KO:K24653] (JBTS37) TOGARAM1 [HSA:23116] [KO:K24886] (JBTS38) JBTS38 [HSA:9851] [KO:K21765] (JBTS39) TMEM218 [HSA:219854] [KO:K26674] (JBTS40) IFT74 [HSA:80173] [KO:K19679] |
|
H01215 | Simpson-Golabi-Behmel syndrome | ... of SGBS are type 1, that appear to arise as a result of either deletions or point mutations within the glypican-3 (GPC3) gene. SGBS type 2 is a severe variant, that is associated with defects in OFD1. | Congenital malformation |
(SGBS1) GPC3 [HSA:2719] [KO:K08109] (SGBS2) OFD1 [HSA:8481] [KO:K16480] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |