KEGG MEDICUS 疾患情報

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3025 件中 511 〜 540 を表示 前へ 1 ... 13 14 15 16 17 18 19 20 21 22 23 ... 101 次へ
エントリ 名称 概要 カテゴリ パスウェイ 病因遺伝子
H00513 新生児一過性糖尿病 Neonatal diabetes mellitus (NDM), which is a monogenic form of diabetes, is a heterogeneous group of disorders characterized by hyperglycemia in the first 6 months of life. NDM is categorized into transient ... 内分泌代謝疾患 (TNDM1) ZFP57 [HSA:346171] [KO:K09228]
(TNDM1) PLAGL1 [HSA:5325] [KO:K19485]
(TNDM2) ABCC8 [HSA:6833] [KO:K05032]
(TNDM3) KCNJ11 [HSA:3767] [KO:K05004]
H00514 ブルック症候群 Bruck syndrome is a recessively-inherited form of osteogenesis imperfecta in combination with pterygium formation across large joints. In Bruck syndrome, joint mobility is significantly reduced, showing ... 先天奇形 (BRKS1) FKBP10 [HSA:60681] [KO:K09575]
(BRKS2) PLOD2 [HSA:5352] [KO:K13645]
H00515 骨発生不全症 II 型 Atelosteogenesis type II (AO2) is a neonatally lethal chondrodysplasia, characterized by severely shortened limbs, small chest, scoliosis, clubfoot, abducted thumbs and great toes, and cleft palate. AO2 ... 先天奇形 DTDST [HSA:1836] [KO:K14701]
H00516 口唇口蓋裂 Cleft lip and/or cleft palate (orofacial cleft, OFC) represents a spectrum of craniofacial anomalies. These clefts are one of the most common congenital malformations that can arise as part of a syndrome ... 先天奇形 (OFC5) MSX1 [HSA:4487] [KO:K09341]
(OFC6) IRF6 [HSA:3664] [KO:K10154]
(OFC7) NECTIN1 [HSA:5818] [KO:K06081]
(OFC8/RHS) TP63 [HSA:8626] [KO:K10149]
(OFC10) SUMO1 [HSA:7341] [KO:K12160]
(OFC11) BMP4 [HSA:652] [KO:K04662]
(OFC15) DLX4 [HSA:1748] [KO:K09314]
H00517 脊椎肋骨異骨症 Spondylocostal dysostosis (SCDO) is a group of disorders characterized by vertebral defects along the entire spinal column with rib fusions and deletions. SCD arises from disturbed somite segmentation ... 先天奇形 (SCDO1) DLL3 [HSA:10683] [KO:K06051]
(SCDO2) MESP2 [HSA:145873] [KO:K09076]
(SCDO3) LNFG [HSA:3955] [KO:K05948]
(SCDO4) HES7 [HSA:84667] [KO:K09087]
(SCDO5) TBX6 [HSA:6911] [KO:K10180]
(SCDO6) RIPPLY2 [HSA:134701] [KO:K28315]
H00518 貧毛を伴わない骨幹端形成異常 Metaphyseal dysplasia without hypotrichosis (MDWH) is a skeletal dysplasia, caused by mutations in the RMRP gene. RMRP codes for an RNA subunit of the MRP RNAse complex. Patients have short stature and ... リボソーム病 RMRP [HSA:6023] [KO:K14576]
H00519 先天性脊椎骨端異形成 Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies ... 先天奇形 COL2A1 [HSA:1280] [KO:K19719]
H00520 II 型コラーゲン異常症 Type II collagenopathies are a spectrum of phenotypes which affect the skeletal and visual systems. The severity ranges from perinatal lethality (achondrogenesis II) to the milder conditions caused by ... 先天奇形 COL2A1 [HSA:1280] [KO:K19719]
H00521 鎖骨頭蓋異形成症 Cleidocranial dysplasia is an autosomal dominant skeletal dysplasia characterized by hypoplastic clavicles, delayed closure of the cranial sutures, and dental abnormalities resulted from defective intramembranous ... 先天奇形 (CLCD1) RUNX2 [HSA:860] [KO:K09278]
(CLCD2) CBFB [HSA:865] [KO:K25826]
H00522 短体幹症 Brachyolmia (BCYM) is a heterogeneous group of skeletal dysplasias that primarily affects the spine. To date, four types of brachyolmia are known. Mutations in the TRPV4, a calcium-permeable nonselective ... 先天奇形 (BCYM3) TRPV4 [HSA:59341] [KO:K04973]
(BCYM4) PAPSS2 [HSA:9060] [KO:K13811]
H00523 ヌーナン症候群類縁疾患 Noonan syndrome comprises genetically heterogeneous disorders that usually include postnatally reduced growth, distinctive facial dysmorphic features, and congenital heart defects and related disorders ... 先天奇形 (NS1/LPRD1) PTPN11 [HSA:5781] [KO:K07293]
(NS3/CFC2) KRAS [HSA:3845] [KO:K07827]
(NS4) SOS1 [HSA:6654] [KO:K03099]
(NS5/LPRD2) RAF1 [HSA:5894] [KO:K04366]
(NS6) NRAS [HSA:4893] [KO:K07828]
(NS7/LPRD3/CFC1) BRAF [HSA:673] [KO:K04365]
(NS8) RIT1 [HSA:6016] [KO:K07832]
(NS9) SOS2 [HSA:6655] [KO:K03099]
(NS10) LZTR1 [HSA:8216] [KO:K23330]
(CFC3) MAP2K1 [HSA:5604] [KO:K04368]
(CFC4) MAP2K2 [HSA:5605] [KO:K04369]
(CS) HRAS [HSA:3265] [KO:K02833]
(NFNS) NF1 [HSA:4763] [KO:K08052]
(NSLH1) SHOC2 [HSA:8036] [KO:K19613]
(NSLH2) PPP1CB [HSA:5500] [KO:K06269]
(CBL) CBL [HSA:867] [KO:K04707]
H00524 肩甲腓骨脊髄筋萎縮症 Scapuloperoneal spinal muscular atrophy (SPSMA) is one of the TRPV4-related diseases. They are a heterogeneous group of dominantly inherited disorders with muscle weakness. Mutations in TRPV4 have been ... 神経系疾患 TRPV4 [HSA:59341] [KO:K04973]
H00525 ミトコンドリアの脂肪酸酸化異常症 Disorders of mitochondrial fatty-acid oxidation are a group of rare inherited conditions that lead to accumulation of fatty acids and decreases in cell energy metabolism due to enzyme or transporter defects ... 先天性代謝異常症 (MCAD) ACADM [HSA:34] [KO:K00249]
(SCAD) ACADS [HSA:35] [KO:K00248]
(SBCAD) ACADSB [HSA:36] [KO:K09478]
(VLCAD) ACADVL [HSA:37] [KO:K09479]
(MTP) HADHA [HSA:3030] [KO:K07515]
(MTP) HADHB [HSA:3032] [KO:K07509]
(CPT I) CPT1A [HSA:1374] [KO:K08765]
(CPT II) CPT2 [HSA:1376] [KO:K08766]
(CACT) SLC25A20 [HSA:788] [KO:K15109]
(CDSP) SLC22A5 [HSA:6584] [KO:K08202]
(HAD) HADH [HSA:3033] [KO:K00022]
(DECR) NADK2 [HSA:133686] [KO:K00858]
(ACAD9) ACAD9 [HSA:28976] [KO:K15980]
(ECHS1) ECHS1 [HSA:1892] [KO:K07511]
H00526 屈指-関節症-内反股-心外膜炎症候群 (CACP)
Jacobs 症候群 		The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an autosomal recessive disorder caused by mutations in the Proteoglycan 4 (PRG4), a chondroitin sulfate proteoglycan that acts as ... 先天奇形 PRG4 [HSA:10216] [KO:K24286]
H00527 網膜色素変性 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 %) ... 神経系疾患 (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]
(RP51) TTC8 [HSA:123016] [KO:K16781]
(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] [KO:K28284]
(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]
(RP98) TMEM216 [HSA:51259] [KO:K19385]
(RP99) IDH3G [HSA:3421] [KO:K00030]
(RP100) TBC1D32 [HSA:221322] [KO:K28444]
(Bothnia retinal dystrophy) RLBP1 [HSA:6017] [KO:K19625]
H00528 前頭鼻異形成 Frontonasal dysplasia is a rare developmental field defect with separation or clefting of the central portion of the face. Its basic characteristics include hypertelorism, a broad nose, or complete midline ... 先天奇形 (FND1) ALX3 [HSA:257] [KO:K09323]
(FND2) ALX4 [HSA:60529] [KO:K09451]
(FND3) ALX1 [HSA:8092] [KO:K09334]
H00529 頭蓋外胚葉性異形成症 Cranioectodermal dysplasia (CED) is a rare disorder characterized by defects of ectoderm-derived structures with typical craniofacial appearances, skeletal deformities and tubulointerstitial nephritis ... 先天奇形 (CED1) IFT122 [HSA:55764] [KO:K19656]
(CED2) WDR35 [HSA:57539] [KO:K19674]
(CED3) IFT43 [HSA:112752] [KO:K19675]
(CED4) WDR19 [HSA:57728] [KO:K19671]
(CED5) IFT140 [HSA:9742] [KO:K19672]
(CED6) CILK1 [HSA:22858] [KO:K08828]
H00530 ジュベール症候群関連疾患 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. ... 先天奇形 (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]
H00531 静脈奇形 Venous malformations are vascular anomalies that present with congenital blue-colored birthmarks resulted from dilated veins. Venous malformations are low-flow vascular malformations. Majority of them ... 先天奇形 (sporadic, cutaneomucosal) TIE2 [HSA:7010] [KO:K05121]
(glomuvenous) GLMN [HSA:11146] [KO:K23345]
H00532 パークスウェーバー症候群 Parkes Weber syndrome (PWS) is characterized by a large cutaneous vascular stain with multiple underlying subcutaneous and intramuscular arteriovenous fistulas (AVF), and overgrowth of the affected extremity ... 先天奇形 RASA1 [HSA:5921] [KO:K04352]
H00533 遺伝性出血性毛細血管拡張症 Hereditary hemorrhagic telangiectasia (HHT), also known as Osler disease, is an autosomal dominant vascular dysplasia characterized by severe recurrent nasal and gastrointestinal bleeding and cutaneomucosal ... 先天奇形 (HHT1) ENG [HSA:2022] [KO:K06526]
(HHT2) ACVRL1 [HSA:94] [KO:K13594]
(HHT5) GDF2 [HSA:2658] [KO:K05503]
(JPHT) SMAD4 [HSA:4089] [KO:K04501]
H00534 脳海綿状血管腫 Cerebral cavernous malformations (CCM) are vascular malformations of the central nervous system comprising enlarged caverns with a single layer of endothelium, which easily lead to cerebral hemorrhages ... 先天奇形 (CCM1) KRIT1 [HSA:889] [KO:K17705]
(CCM2) MGC4607 [HSA:83605] [KO:K26416]
(CCM3) PDCD10 [HSA:11235] [KO:K18269]
(CCM4) PIK3CA [HSA:5290] [KO:K00922]
(CCM5) MAP3K3 [HSA:4215] [KO:K04421]
H00535 リンパ管奇形 Lymphatic malformation (LMPHM), formerly known as hereditary lymphedema (LMPH), is a form of generalized lymphatic dysplasia characterized by chronic lesions of the extremities due to insufficient lymphatic ... 先天奇形 (LMPHM1/LMPH1A) FLT4 [HSA:2324] [KO:K05097]
(LMPHM3/LMPH1C) GJC2 [HSA:57165] [KO:K07619]
(LMPHM4/LMPH1D) VEGFC [HSA:7424] [KO:K05449]
(LMPHM6/LMPH3) PIEZO1 [HSA:9780] [KO:K22128]
(LMPHM7) EPHB4 [HSA:2050] [KO:K05113]
(LMPHM8) CALCRL [HSA:10203] [KO:K04577]
(LMPHM9) CELSR1 [HSA:9620] [KO:K04600]
(LMPHM10) ANGPT2 [HSA:285] [KO:K05466]
(LMPHM11) TIE1 [HSA:7075] [KO:K05120]
(LMPHM12) MDFIC [HSA:29969] [KO:K27688]
(LMPHM13) THSD1 [HSA:55901] [KO:K24433]
(LMPHM14) ERG [HSA:2078] [KO:K09435]
H00536 皮質下梗塞と白質脳症を伴う常染色体優性遺伝性脳動脈症 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a chronic cerebrovascular disorder characterized by recurrent ischemic attacks and frequent migraines ... 先天奇形 (CADASIL1) NOTCH3 [HSA:4854] [KO:K20995]
(CADASIL2) HTRA1 [HSA:5654] [KO:K08784]
H00537 ネフロン癆 Nephronophthisis (NPH) is an inherited disorder characterized by many features including irregular tubular basement membrane, tubular cyst formation, and interstitial cell infiltration with fibrosis. The ... 先天奇形 (NPHP1) NPHP1 [HSA:4867] [KO:K19657]
(NPHP2) INVS [HSA:27130] [KO:K19626]
(NPHP3) NPHP3 [HSA:27031] [KO:K19360]
(NPHP4) NPHP4 [HSA:261734] [KO:K16478]
(NPHP5/SLSN5) IQCB1 [HSA:9657] [KO:K16774]
(NPHP6/SLSN6) CEP290 [HSA:80184] [KO:K16533]
(NPHP7) GLIS2 [HSA:84662] [KO:K09233]
(NPHP9) NEK8 [HSA:284086] [KO:K20877]
(NPHP10/SLSN7) SDCCAG8 [HSA:10806] [KO:K16488]
(NPHP11) TMEM67 [HSA:91147] [KO:K19348]
(NPHP12) TTC21B [HSA:79809] [KO:K19673]
(NPHP13) WDR19 [HSA:57728] [KO:K19671]
(NPHP14) ZNF423 [HSA:23090] [KO:K22870]
(NPHP15) CEP164 [HSA:22897] [KO:K16462]
(NPHP16) ANKS6 [HSA:203286] [KO:K21415]
(NPHP18) CEP83 [HSA:51134] [KO:K16754]
(NPHP19) DCDC2 [HSA:51473] [KO:K23405]
(NPHP20) MAPKBP1 [HSA:23005] [KO:K21763]
(NPHPL1) XPNPEP3 [HSA:63929] [KO:K01262]
(NPHPL2) SLC41A1 [HSA:254428] [KO:K15122]
H00538 Senior-Loken 症候群 Senior-Loken syndrome is a rare disorder that combines nephronophthisis and retinitis pigmentosa. 先天奇形 (SLSN1) NPHP1 [HSA:4867] [KO:K19657]
(SLSN4) NPHP4 [HSA:261734] [KO:K16478]
(SLSN5) IQCB1 [HSA:9657] [KO:K16774]
(SLSN6) CEP290 [HSA:80184] [KO:K16533]
(SLSN7) SDCCAG8 [HSA:10806] [KO:K16488]
(SLSN8) WDR19 [HSA:57728] [KO:K19671]
(SLSN9) TRAF3IP1 [HSA:26146] [KO:K19680]
H00539 PTEN過誤腫症候群 PTEN hamartoma tumor syndrome (PHTS) is a spectrum of disorders associated with the formation of hamartomas caused by mutations of the tumor suppressor PTEN. The hamartomas tend to be both benign and malignant ... 新生物 PTEN [HSA:5728] [KO:K01110]
H00540 OLEDAID
外胚葉異形成症に伴う免疫不全症1 		A rare X-linked recessive syndrome 'Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency', abbreviated as OLEDAID, is caused by termination codon mutations in the NEMO gene which ... 先天奇形 IKBKG [HSA:8517] [KO:K07210]
H00541 常染色体優性遺伝性尿細管間質性腎疾患 Autosomal-dominant tubulointerstitial kidney disease (ADTKD) is a broad term that encompasses a group of largely monosystemic disorders characterized by renal tubular and interstitial abnormalities, leading ... 泌尿器系疾患 (ADTKD1) UMOD [HSA:7369] [KO:K18274]
(ADTKD2) MUC1 [HSA:4582] [KO:K06568]
(ADTKD3) HNF1B [HSA:6928] [KO:K08034]
(ADTKD4) REN [HSA:5972] [KO:K01380]
(ADTKD5) SEC61A1 [HSA:29927] [KO:K10956]
(ADTKD6) APOA4 [HSA:337] [KO:K08760]
H00542 多発性嚢胞腎 Polycystic kidney disease (PKD) is the most common life-threatening genetic disease characterized by bilateral cyst formation on the kidneys. It is often associated with liver cysts. 先天奇形 (PKD1) PKD1 [HSA:5310] [KO:K04985]
(PKD2) PKD2 [HSA:5311] [KO:K04986]
(PKD3) GANAB [HSA:23193] [KO:K05546]
(PKD4) PKHD1 [HSA:5314] [KO:K19865]
(PKD5) DZIP1L [HSA:199221] [KO:K16470]
(PKD6) DNAJB11 [HSA:51726] [KO:K09517]
(PKD7) ALG5 [HSA:29880] [KO:K00729]
(PKD8) NEK8 [HSA:284086] [KO:K20877]
(PKD9) IFT140 [HSA:9742] [KO:K19672]
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