KEGG MEDICUS 疾患情報

 Top
40 件中 1 〜 30 を表示 1 2 次へ
エントリ 名称 概要 カテゴリ パスウェイ 病因遺伝子
H00058 筋萎縮性側索硬化症 (ALS) Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by a progressive degeneration of motor neurons in the brain and spinal cord. In 90% of patients, ALS is sporadic, with ... 神経変性疾患 hsa05014 Amyotrophic lateral sclerosis (ALS1) SOD1 [HSA:6647] [KO:K04565]
(ALS1) NEFH [HSA:4744] [KO:K04574]
(ALS1) PRPH [HSA:5630] [KO:K07607]
(ALS1) DCTN1 [HSA:1639] [KO:K04648]
(ALS2) ALS2 [HSA:57679] [KO:K04575]
(ALS4) SETX [HSA:23064] [KO:K10706]
(ALS5) SPG11 [HSA:80208] [KO:K19026]
(ALS6) FUS [HSA:2521] [KO:K13098]
(ALS8) VAPB [HSA:9217] [KO:K10707]
(ALS9) ANG [HSA:283] [KO:K16631]
(ALS10) TARDBP [HSA:23435] [KO:K23600]
(ALS11) FIG4 [HSA:9896] [KO:K22913]
(ALS12) OPTN [HSA:10133] [KO:K19946]
(ALS15) UBQLN2 [HSA:29978] [KO:K04523]
(ALS16) SIGMAR1 [HSA:10280] [KO:K20719]
(ALS18) PFN1 [HSA:5216] [KO:K05759]
(ALS19) ERBB4 [HSA:2066] [KO:K05085]
(ALS20) HNRNPA1 [HSA:3178] [KO:K12741]
(ALS21) MATR3 [HSA:9782] [KO:K13213]
(ALS22) TUBA4A [HSA:7277] [KO:K07374]
(ALS23) ANXA11 [HSA:311] [KO:K17095]
(ALS24) NEK1 [HSA:4750] [KO:K08857]
(ALS25) KIF5A [HSA:3798] [KO:K10396]
(ALS26) TIA1 [HSA:7072] [KO:K13201]
(ALS27) SPTLC1 [HSA:10558] [KO:K00654]
(ALS28) LRP12 [HSA:29967] [KO:K20050]
(ALSPDC) TRPM7 [HSA:54822] [KO:K04982]
(ALSPDC) MAPT [HSA:4137] [KO:K04380]
H00085 無ガンマグロブリン血症 There are three major categories of antibody deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency ... 免疫系疾患 (AGMX1) BTK [HSA:695] [KO:K07370]
(AGMX2) SH3KBP1 [HSA:30011] [KO:K12470]
(AGM2) IGLL1 [HSA:3543] [KO:K06554]
(AGM3) CD79A [HSA:973] [KO:K06506]
(AGM4) BLNK [HSA:29760] [KO:K07371]
(AGM5) LRRC8A [HSA:56262] [KO:K22038]
(AGM6) CD79B [HSA:974] [KO:K06507]
(AGM7) PIK3R1 [HSA:5295] [KO:K02649]
(AGM8A/8B) TCF3 [HSA:6929] [KO:K09063]
(AGM9) SLC39A7 [HSA:7922] [KO:K14713]
(AGM10) SPI1 [HSA:6688] [KO:K09438]
H00093 複合免疫不全症 The term combined immunodeficiency (CID) is used to distinguish patients with low, but not absent, T-cell function from those with severe CID (SCID) characterized by profound deficiencies of T- and B-cell ... 原発性免疫不全症 (CIDX/IMD6) IL2RG [HSA:3561] [KO:K05070]
(IMD9) ORAI1 [HSA:84876] [KO:K16056]
(IMD10) STIM1 [HSA:6786] [KO:K16059]
(IMD11) CARD11 [HSA:84433] [KO:K07367]
(IMD12) MALT1 [HSA:10892] [KO:K07369]
(IMD15) IKBKB [HSA:3551] [KO:K07209]
(IMD16) TNFRSF4 [HSA:7293] [KO:K05142]
(IMD17) CD3G [HSA:917] [KO:K06452]
(IMD21) GATA2 [HSA:2624] [KO:K17894]
(IMD22) LCK [HSA:3932] [KO:K05856]
(IMD24) CTPS1 [HSA:1503] [KO:K01937]
(IMD37) BCL10 [HSA:8915] [KO:K07368]
(IMD40) DOCK2 [HSA:1794] [KO:K12367]
(IMD48) ZAP70 [HSA:7535] [KO:K07360]
(IMD50) MSN [HSA:4478] [KO:K05763]
(IMD55) GINS1 [HSA:9837] [KO:K10732]
(IMD59) HYOU1 [HSA:10525] [KO:K09486]
(IMD71) ARPC1B [HSA:10095] [KO:K05757]
(IMD85) TOM1 [HSA:10043] [KO:K26401]
(IMD97) PIK3CG [HSA:5294] [KO:K21289]
(IMD110) STK4 [HSA:6789] [KO:K04411]
(IMD112) MAP3K14 [HSA:9020] [KO:K04466]
(IMD116) CD8A [HSA:925] [KO:K06458]
(IMD119) ICOSLG [HSA:23308] [KO:K06710]
(IMD120) POLD1 [HSA:5424] [KO:K02327]
(IMD128) COPG1 [HSA:22820] [KO:K17267]
(IMD131) IRF4 [HSA:3662] [KO:K09445]
(CCHDG) RAG1 [HSA:5896] [KO:K10628]
(CCHDG) RAG2 [HSA:5897] [KO:K10988]
H00107 他のよく定義された免疫不全症候群 Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disease and characterized by immune dysregulation and microthrombocytopenia. Several nonsense and missense mutations as well as deletions and insertions ... 原発性免疫不全症 WAS [HSA:7454] [KO:K05747]
TBX1 [HSA:6899] [KO:K10175]
STAT3 [HSA:6774] [KO:K04692]
TYK2 [HSA:7297] [KO:K11219]
SH2D1A [HSA:4068] [KO:K07990]
XIAP [HSA:331] [KO:K04725]
ITK [HSA:3702] [KO:K07363]
AIRE [HSA:326] [KO:K10603]
FOXP3 [HSA:50943] [KO:K10163]
RMRP [HSA:6023] [KO:K14576]
H00254 成長ホルモン分泌不全症
下垂体性低身長症 		Growth hormone deficiency, formerly known as Pituitary dwarfism, is a heterogeneous condition characterized by growth retardation with short stature and normal body proportions caused by growth hormone ... 内分泌代謝疾患 (IGHD1A/1B/2) GH1 [HSA:2688] [KO:K05438]
(IGHD3) BTK [HSA:695] [KO:K07370]
(IGHD4) GHRHR [HSA:2692] [KO:K04584]
(CPHD1) POU1F1 [HSA:5449] [KO:K09363]
(CPHD2) PROP1 [HSA:5626] [KO:K09327]
(CPHD3) LHX3 [HSA:8022] [KO:K09374]
(CPHD4) LHX4 [HSA:89884] [KO:K09374]
(CPHD5) HESX1 [HSA:8820] [KO:K09354]
(CPHD6) OTX2 [HSA:5015] [KO:K18490]
(CPHD7/IGHD5) RNPC3 [HSA:55599] [KO:K13157]
(CPHD8) ROBO1 [HSA:6091] [KO:K06753]
(PD2) GHR [HSA:2690] [KO:K05080]
(PHPX) SOX3 [HSA:6658] [KO:K09267]
(GHDP) GHSR [HSA:2693] [KO:K04284]
H00268 滑脳症 Lissencephaly (LIS), literally meaning smooth brain, is a severe neuronal migration disorder that ranges from agyria/pachygyria to subcortical band heterotopia. 先天奇形 (LIS1/MDS) PAFAH1B1 [HSA:5048] [KO:K16794]
(LIS2) RELN [HSA:5649] [KO:K06249]
(LIS3) TUBA1A [HSA:7846] [KO:K07374]
(LIS4) NDE1 [HSA:54820] [KO:K16738]
(LIS5) LAMB1 [HSA:3912] [KO:K05636]
(LIS6) KATNB1 [HSA:10300] [KO:K18643]
(LIS7) CDK5 [HSA:1020] [KO:K02090]
(LIS8) TMTC3 [HSA:160418] [KO:K23424]
(LIS9) MACF1 [HSA:23499] [KO:K19827]
(LIS10) CEP85L [HSA:387119] [KO:K16766]
(LISX1) DCX [HSA:1641] [KO:K16579]
(LISX2) ARX [HSA:170302] [KO:K09452]
H00449 眼歯指異形成症 Oculodentodigital dysplasia (ODDD) is an inherited disorder involving characteristic facial appearance and abnormalities of eyes, teeth, and limbs. The disease is inherited in both an autosomal dominant ... 先天奇形 GJA1 [HSA:2697] [KO:K07372]
H00491 頭蓋骨幹異形成症 Craniometaphyseal dysplasia (CMD) is a rare condition characterized by progressive hyperostosis of cranial bones and malformations of metaphyseal long bones. Familial CMD is sub-classified based on its ... 先天奇形 (CMDD) ANKH [HSA:56172] [KO:K22734]
(CMDR) GJA1 [HSA:2697] [KO:K07372]
H00547 房室中隔欠損
房室管型欠損 		Atrioventricular septal defect, also known as atrioventricular canal defect or endocardial cushion defect, is a congenital heart malformation involving the interatrial septum, interventricular septum, ... 先天奇形 (AVSD2) CRELD1 [HSA:78987] [KO:K24335]
(AVSD3) GJA1 [HSA:2697] [KO:K07372]
(AVSD4) GATA4 [HSA:2626] [KO:K09183]
(AVSD5) GATA6 [HSA:2627] [KO:K17897]
H00605 遺伝性難聴 (常染色体劣性) Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases ... 神経系疾患 (DFNB1A) GJB2 [HSA:2706] [KO:K07621]
(DFNB1A) GJB3 [HSA:2707] [KO:K07622]
(DFNB1B) GJB6 [HSA:10804] [KO:K07625]
(DFNB2) MYO7A [HSA:4647] [KO:K10359]
(DFNB3) MYO15A [HSA:51168] [KO:K10361]
(DFNB4) SLC26A4 [HSA:5172] [KO:K14702]
(DFNB4) FOXI1 [HSA:2299] [KO:K09401]
(DFNB4) KCNJ10 [HSA:3766] [KO:K05003]
(DFNB6) TMIE [HSA:259236] [KO:K23907]
(DFNB7/11) TMC1 [HSA:117531] [KO:K21988]
(DFNB8/10) TMPRSS3 [HSA:64699] [KO:K09634]
(DFNB9) OTOF [HSA:9381] [KO:K19949]
(DFNB12) CDH23 [HSA:64072] [KO:K06813]
(DFNB12) ATP2B2 [HSA:491] [KO:K05850]
(DFNB15) GIPC3 [HSA:126326] [KO:K20056]
(DFNB16) STRC [HSA:161497] [KO:K24636]
(DFNB18A) USH1C [HSA:10083] [KO:K21877]
(DFNB18B) OTOG [HSA:340990] [KO:K25030]
(DFNB21) TECTA [HSA:7007] [KO:K18273]
(DFNB22) OTOA [HSA:146183] [KO:K25029]
(DFNB23) PCDH15 [HSA:65217] [KO:K16500]
(DFNB24) RDX [HSA:5962] [KO:K05762]
(DFNB25) GRXCR1 [HSA:389207] [KO:K17479]
(DFNB26) GAB1 [HSA:2549] [KO:K09593]
(DFNB26) METTL13 [HSA:51603] [KO:K25166]
(DFNB28) TRIOBP [HSA:11078] [KO:K23751]
(DFNB29) CLDN14 [HSA:23562] [KO:K06087]
(DFNB30) MYO3A [HSA:53904] [KO:K08834]
(DFNB31) WHRN [HSA:25861] [KO:K21879]
(DFNB32) CDC14A [HSA:8556] [KO:K06639]
(DFNB35) ESRRB [HSA:2103] [KO:K08553]
(DFNB36) ESPN [HSA:83715] [KO:K24047]
(DFNB37) MYO6 [HSA:4646] [KO:K10358]
(DFNB39) HGF [HSA:3082] [KO:K05460]
(DFNB42) ILDR1 [HSA:286676] [KO:K25781]
(DFNB44) ADCY1 [HSA:107] [KO:K08041]
(DFNB48) CIB2 [HSA:10518] [KO:K23837]
(DFNB49) MARVELD2 [HSA:153562] [KO:K17291]
(DFNB53) COL11A2 [HSA:1302] [KO:K19721]
(DFNB57) PDZD7 [HSA:79955] [KO:K21882]
(DFNB59) PJVK [HSA:494513] [KO:K22147]
(DFNB61) SLC26A5 [HSA:375611] [KO:K14703]
(DFNB63) LRTOMT [HSA:220074] [KO:K00545]
(DFNB66) DCDC2 [HSA:51473] [KO:K23405]
(DFNB67) LHFPL5 [HSA:222662] [KO:K23893]
(DFNB68) S1PR2 [HSA:9294] [KO:K04292]
(DFNB70) PNPT1 [HSA:87178] [KO:K00962]
(DFNB74) MSRB3 [HSA:253827] [KO:K07305]
(DFNB76) SYNE4 [HSA:163183] [KO:K23401]
(DFNB77) LOXHD1 [HSA:125336] [KO:K24822]
(DFNB79) TPRN [HSA:286262] [KO:K24164]
(DFNB82) GPSM2 [HSA:29899] [KO:K15837]
(DFNB84A) PTPRQ [HSA:374462] [KO:K16910]
(DFNB84B) OTOGL [HSA:283310] [KO:K25030]
(DFNB86) TBC1D24 [HSA:57465] [KO:K21841]
(DFNB88) ELMOD3 [HSA:84173] [KO:K23538]
(DFNB89) KARS1 [HSA:3735] [KO:K04567]
(DFNB91) SERPINB6 [HSA:5269] [KO:K13963]
(DFNB93) CABP2 [HSA:51475] [KO:K23531]
(DFNB94) NARS2 [HSA:79731] [KO:K01893]
(DFNB97) MET [HSA:4233] [KO:K05099]
(DFNB98) TSPEAR [HSA:54084] [KO:K24437]
(DFNB99) TMEM132E [HSA:124842] [KO:K17599]
(DFNB100) PPIP5K2 [HSA:23262] [KO:K13024]
(DFNB101) GRXCR2 [HSA:643226] [KO:K24294]
(DFNB102) EPS8 [HSA:2059] [KO:K17277]
(DFNB103) CLIC5 [HSA:53405] [KO:K05025]
(DFNB104) RIPOR2 [HSA:9750] [KO:K24818]
(DFNB106) EPS8L2 [HSA:64787] [KO:K17277]
(DFNB107) WBP2 [HSA:23558] [KO:K22524]
(DFNB108) ROR1 [HSA:4919] [KO:K05122]
(DFNB109) ESRP1 [HSA:54845] [KO:K14947]
(DFNB110) COCH [HSA:1690] [KO:K23574]
(DFNB111) MPZL2 [HSA:10205] [KO:K27316]
(DFNB112) BDP1 [HSA:55814] [KO:K15198]
(DFNB113) CEACAM16 [HSA:388551] [KO:K06499]
(DFNB114) GRAP [HSA:10750] [KO:K23694]
(DFNB115) SPNS2 [HSA:124976] [KO:K23677]
(DFNB116) CLDN9 [HSA:9080] [KO:K06087]
(DFNB117) CLRN2 [HSA:645104] [KO:K23841]
(DFNB119) SPATA5L1 [HSA:79029] [KO:K26051]
(DFNB120) MINAR2 [HSA:100127206] [KO:K24830]
(DFNB121) GPR156 [HSA:165829] [KO:K04617]
(DFNB122) TMTC4 [HSA:84899] [KO:K23424]
(DFNB123) STX4 [HSA:6810] [KO:K13502]
(DFNB124) PKHD1L1 [HSA:93035] [KO:K27624]
(DFNB125) GAS2 [HSA:2620] [KO:K24627]
H00679 先天性大脳白質形成不全症
ペリツェウス・メルツバッヘル病 		Hypomyelinating leukodystrophies (HMLs) are disorders involving aberrant myelin formation in the central nervous system. They are clinically characterized by early onset nystagmus, impaired motor development ... 先天性代謝異常症 (HLD1/PMD) PLP1 [HSA:5354] [KO:K17271]
(HLD2) GJC2 [HSA:57165] [KO:K07619]
(HLD3) AIMP1 [HSA:9255] [KO:K15437]
(HLD4) HSPD1 [HSA:3329] [KO:K04077]
(HLD5) FAM126A [HSA:84668] [KO:K21844]
(HLD6) TUBB4A [HSA:10382] [KO:K07375]
(HLD7) POLR3A [HSA:11128] [KO:K03018]
(HLD8) POLR3B [HSA:55703] [KO:K03021]
(HLD9) RARS1 [HSA:5917] [KO:K01887]
(HLD10) PYCR2 [HSA:29920] [KO:K00286]
(HLD11) POLR1C [HSA:9533] [KO:K03027]
(HLD12) VPS11 [HSA:55823] [KO:K20179]
(HLD13) HIKESHI [HSA:51501] [KO:K23327]
(HLD14) UFM1 [HSA:51569] [KO:K12162]
(HLD15) EPRS1 [HSA:2058] [KO:K14163]
(HLD16) TMEM106B [HSA:54664] [KO:K25048]
(HLD17) AIMP2 [HSA:7965] [KO:K15438]
(HLD18) DEGS1 [HSA:8560] [KO:K04712]
(HLD19) TMEM63A [HSA:9725] [KO:K21989]
(HLD20) CNP [HSA:1267] [KO:K01121]
(HLD21) POLR3K [HSA:51728] [KO:K03019]
(HLD22) CLDN11 [HSA:5010] [KO:K06087]
(HLD23) RNF220 [HSA:55182] [KO:K25174]
(HLD24) ATP11A [HSA:23250] [KO:K26934]
(HLD25) TMEM163 [HSA:81615] [KO:K14694]
(HLD26) SLC35B2 [HSA:347734] [KO:K15276]
(HLD27) POLR1A [HSA:25885] [KO:K02999]
(HLD28) MAL [HSA:4118] [KO:K28033]
H00710 変異性紅斑角皮症 Erythrokeratoderma variabilis is a rare genodermatosis characterized by both transient, demarcated erythema and persistent hyperkeratosis. Lesions usually appear within the first year of life but may arise ... 先天奇形 (EKVP1) GJB3 [HSA:2707] [KO:K07622]
(EKVP2) GJB4 [HSA:127534] [KO:K07623]
(EKVP3) GJA1 [HSA:2697] [KO:K07372]
(EKVP4) KDSR [HSA:2531] [KO:K04708]
(EKVP5) KRT83 [HSA:3889] [KO:K07605]
(EKVP6) TRPM4 [HSA:54795] [KO:K04979]
(EKVP7) PERP [HSA:64065] [KO:K10136]
H00756 Pitt-Hopkins 症候群 Pitt-Hopkins Syndrome (PTHS) is a rare disorder of severe mental retardation. Facial dysmorphism include a beaked nose, flared nostrils, and a wide mouth with a 'cupid's-bow' shaped upper lip. A particular ... 先天奇形 (PTHS) TCF4 [HSA:6925] [KO:K15603]
(PTHSL1) CNTNAP2 [HSA:26047] [KO:K07380]
(PTHSL2) NRXN1 [HSA:9378] [KO:K07377]
H00789 円錐角膜 Keratoconus (KTCN) is a frequent corneal ectasia characterized by localized corneal thinning and protrusion. Its exact cause is still unknown and is probably multifactorial. 神経系疾患 (KTCN1) VSX1 [HSA:30813] [KO:K09335]
(KTCN9) TUBA3D [HSA:113457] [KO:K07374]
H00801 家族性胸部大動脈瘤及び解離 Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) are the major diseases that affect the thoracic aorta. While majority of the cases are sporadic, more than 20% are inherited as a single ... 循環器系疾患 (AAT3) TGFBR2 [HSA:7048] [KO:K04388]
(AAT4) MYH11 [HSA:4629] [KO:K10352]
(AAT5) TGFBR1 [HSA:7046] [KO:K04674]
(AAT6) ACTA2 [HSA:59] [KO:K12313]
(AAT7) MYLK [HSA:4638] [KO:K00907]
(AAT8) PRKG1 [HSA:5592] [KO:K07376]
(AAT9) MFAP5 [HSA:8076] [KO:K25410]
(AAT10) LOX [HSA:4015] [KO:K00277]
(AAT11) FOXE3 [HSA:2301] [KO:K09398]
(AAT12) THSD4 [HSA:79875] [KO:K23377]
H00831 遺伝性ジストニア Dystonias are a heterogeneous group of hyperkinetic movement disorders characterized by involuntary sustained muscle contractions that lead to abnormal postures and repetitive movements. Presently, 30 ... 神経系疾患 (DYT1) TOR1A [HSA:1861] [KO:K22990]
(DYT2) HPCA [HSA:3208] [KO:K23846]
(DYT3) TAF1 [HSA:6872] [KO:K03125]
(DYT4) TUBB4A [HSA:10382] [KO:K07375]
(DYT5) GCH1 [HSA:2643] [KO:K01495]
(DYT6) THAP1 [HSA:55145] [KO:K23203]
(DYT8) PNKD [HSA:25953] [KO:K23864]
(DYT9) SLC2A1 [HSA:6513] [KO:K07299]
(DYT10/EKD1) PRRT2 [HSA:112476] [KO:K23897]
(DYT11) SGCE [HSA:8910] [KO:K27061]
(DYT12) ATP1A3 [HSA:478] [KO:K01539]
(DYT16) PRKRA [HSA:8575] [KO:K24540]
(DYT22JO/AO) TSPOAP1 [HSA:9256] [KO:K19922]
(DYT24) ANO3 [HSA:63982] [KO:K19498]
(DYT25) GNAL [HSA:2774] [KO:K04633]
(DYT26) KCTD17 [HSA:79734] [KO:K21914]
(DYT27) COL6A3 [HSA:1293] [KO:K06238]
(DYT28) KMT2B [HSA:9757] [KO:K14959]
(DYT29/DYTOABG) MECR [HSA:51102] [KO:K07512]
(DYT30) VPS16 [HSA:64601] [KO:K20180]
(DYT31) AOPEP [HSA:84909] [KO:K09606]
(DYT32) VPS11 [HSA:55823] [KO:K20179]
(DYT33) EIF2AK2 [HSA:5610] [KO:K16195]
(DYT34) KCNN2 [HSA:3781] [KO:K04943]
(DYT35) SHQ1 [HSA:55164] [KO:K14764]
(DYT36/EKD3) TMEM151A [HSA:256472]
(DYT37) NUP54 [HSA:53371] [KO:K14308]
H00837 レーバー先天性黒内障 Leber congenital amaurosis (LCA) is a heterogeneous group of severe retinal degenerations, which typically becomes evident in the first year of life. Affected infants have little or no retinal photoreceptor ... 神経系疾患 (LCA1) GUCY2D [HSA:3000] [KO:K12321]
(LCA2) RPE65 [HSA:6121] [KO:K11158]
(LCA3) SPATA7 [HSA:55812] [KO:K19655]
(LCA4) AIPL1 [HSA:23746] [KO:K17767]
(LCA5) LCA5 [HSA:167691] [KO:K24828]
(LCA6) RPGRIP1 [HSA:57096] [KO:K16512]
(LCA7) CRX [HSA:1406] [KO:K09337]
(LCA8) CRB1 [HSA:23418] [KO:K16681]
(LCA9) NMNAT1 [HSA:64802] [KO:K06210]
(LCA10) CEP290 [HSA:80184] [KO:K16533]
(LCA11) IMPDH1 [HSA:3614] [KO:K00088]
(LCA12) RD3 [HSA:343035] [KO:K25404]
(LCA13) RDH12 [HSA:145226] [KO:K11153]
(LCA14) LRAT [HSA:9227] [KO:K00678]
(LCA15) TULP1 [HSA:7287] [KO:K19600]
(LCA16) KCNJ13 [HSA:3769] [KO:K05006]
(LCA17) GDF6 [HSA:392255] [KO:K20012]
(LCA18) PRPH2 [HSA:5961] [KO:K17343]
(LCA19) USP45 [HSA:85015] [KO:K11844]
(LCAEOD) TUBB4B [HSA:10383] [KO:K07375]
H00838 先天性外眼筋線維症 Congenital fibrosis of the extraocular muscles (CFEOM) describes a group of rare congenital eye movement disorders that result from the dysfunction of all or part of the oculomotor (CN 3) and the trochlear ... 神経系疾患 (CFEOM1, CFEOM3B) KIF21A [HSA:55605] [KO:K24185]
(CFEOM2) PHOX2A [HSA:401] [KO:K09330]
(CFEOM3A) TUBB3 [HSA:10381] [KO:K07375]
(CFEOM5) COL25A1 [HSA:84570] [KO:K24356]
H00865 致死性先天性拘縮症候群 Lethal congenital contractural syndrome (LCCS) is a heterogeneous group of disorders characterized by congenital nonprogressive joint contractures with a severe form of arthrogryposis. LCCS is inherited ... 先天奇形 (LCCS1) GLE1 [HSA:2733] [KO:K18723]
(LCCS2) ERBB3 [HSA:2065] [KO:K05084]
(LCCS3) PIP5K1C [HSA:23396] [KO:K00889]
(LCCS4) MYBPC1 [HSA:4604] [KO:K12557]
(LCCS5) DNM2 [HSA:1785] [KO:K23484]
(LCCS6) ZBTB42 [HSA:100128927] [KO:K23196]
(LCCS7) CNTNAP1 [HSA:8506] [KO:K07379]
(LCCS8) ADCY6 [HSA:112] [KO:K08046]
(LCCS9) ADGRG6 [HSA:57211] [KO:K08463]
(LCCS10) NEK9 [HSA:91754] [KO:K20878]
(LCCS11) GLDN [HSA:342035] [KO:K16364]
H00982 遺伝性鉄芽球性貧血 Sideroblastic anemias are a group of disorders characterized by anemia with the emergence of ring sideroblasts in the bone marrow. Inherited sideroblastic anemia is a rare and heterogeneous disease caused ... 血液疾患 (SIDBA1) ALAS2 [HSA:212] [KO:K00643]
(SIDBA2) SLC25A38 [HSA:54977] [KO:K15118]
(SIDBA3) GLRX5 [HSA:51218] [KO:K07390]
(SIDBA4) HSPA9 [HSA:3313] [KO:K04043]
(SIDBA5) HSCB [HSA:150274] [KO:K04082]
(ASAT) ABCB7 [HSA:22] [KO:K05662]
H01095 合指症 Syndactyly (SDTY) is the common hereditary limb malformations depicting the fusion of certain fingers and/or toes. At least nine non-syndromic syndactylies with additional sub-types have been characterized ... 先天奇形 (SDTY2/5) HOXD13 [HSA:3239] [KO:K09298]
(SDTY3) GJA1 [HSA:2697] [KO:K07372]
(SDTY4) ZRS/LMBR1 [HSA:64327] [KO:K25217]
(SDTY9) BHLHA9 [HSA:727857] [KO:K24145]
H01272 左心低形成症候群 Hypoplastic left heart syndrome (HLHS) is a severe, uniformly fatal congenital heart defect typically characterized by hypoplasia of the left ventricular chamber and aorta in association with stenosis ... 先天奇形 GJA1 [HSA:2697] [KO:K07372]
NKX2-5 [HSA:1482] [KO:K09345]
HAND1 [HSA:9421] [KO:K09071]
H01351 家族性痙性失調症 Spastic ataxia (SPAX) is a heterogeneous group of progressive neurodegenerative disorders, characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and ... 神経変性疾患 (SPAX1) VAMP1 [HSA:6843] [KO:K08510]
(SPAX2) KIF1C [HSA:10749] [KO:K10392]
(SPAX3/ARSAL) MARS2 [HSA:92935] [KO:K01874]
(SPAX4) MTPAP [HSA:55149] [KO:K18060]
(SPAX5) AFG3L2 [HSA:10939] [KO:K08956]
(SPAX6/ARSACS) SACS [HSA:26278] [KO:K17592]
(SPAX8) NKX6-2 [HSA:84504] [KO:K09350]
(SPAX9) CHP1 [HSA:11261] [KO:K17610]
(SPAX10) COQ4 [HSA:51117] [KO:K18586]
(SPAX11) TUBA4A [HSA:7277] [KO:K07374]
H01579 Michelin tire baby 症候群 Congenital symmetric circumferential skin creases, also known as Michelin tire baby syndrome, is a rare genetic disorder characterized by generalized folding of excess skin. This feature was first described ... 先天奇形 (CSCSC1) TUBB [HSA:203068] [KO:K07375]
(CSCSC2) MAPRE2 [HSA:10982] [KO:K10436]
H01649 統合失調症 Schizophrenia (SCZD) is a common serious psychotic illness that typically emerges in late adolescence and early adulthood. It is characterized by hallucinations and delusions (commonly known as positive ... 精神及び行動の障害 (SCZD4) PRODH [HSA:5625] [KO:K00318]
(SCZD6) NRG1 [HSA:3084] [KO:K05455]
(SCZD9) DISC1 [HSA:27185] [KO:K16534]
(SCZD15) SHANK3 [HSA:85358] [KO:K15009]
(SZCD17) NRXN1 [HSA:9378] [KO:K07377]
(SCZD18) SLC1A1 [HSA:6505] [KO:K05612]
(SCZD19) RBM12 [HSA:10137] [KO:K24526]
MTHFR [HSA:4524] [KO:K25004]
CHI3L1 [HSA:1116] [KO:K17523]
SYN2 [HSA:6854] [KO:K19941]
DRD3 [HSA:1814] [KO:K04146]
RTN4R [HSA:65078] [KO:K16659]
DAOA [HSA:267012] [KO:K24397]
HTR2A [HSA:3356] [KO:K04157]
AKT1 [HSA:207] [KO:K04456]
C4A [HSA:720] [KO:K03989]
APOL2 [HSA:23780] [KO:K14480]
APOL4 [HSA:80832] [KO:K14480]
COMT [HSA:1312] [KO:K00545]
H01740 巨大血小板性血小板減少症 Macrothrombocytopenia (MTP) is a heterogeneous group of disorders characterized by enlarged and reduced numbers of circulating platelets, sometimes resulting in abnormal bleeding. The clinical presentations ... 血液疾患 (MATINS) MYH9 [HSA:4627] [KO:K10352]
(BSS) GP1BA [HSA:2811] [KO:K06261]
(BSS) GP1BB [HSA:2812] [KO:K06262]
(BSS) GP9 [HSA:2815] [KO:K06263]
(BDPLT15) ACTN1 [HSA:87] [KO:K05699]
(BDPLT16) ITGA2B [HSA:3674] [KO:K06476]
(BDPLT19) PRKACG [HSA:5568] [KO:K04345]
(BDPLT24) ITGB3 [HSA:3690] [KO:K06493]
(STSL1) ABCG8 [HSA:64241] [KO:K05684]
(STSL2) ABCG5 [HSA:64240] [KO:K05683]
(MACTHC1) TUBB1 [HSA:81027] [KO:K07375]
(MACTHC2) TUBA8 [HSA:51807] [KO:K07374]
GATA1 [HSA:2623] [KO:K09182]
VWF [HSA:7450] [KO:K03900]
DIAPH1 [HSA:1729] [KO:K05740]
H01810 先天性ミオパチー The congenital myopathies are a group of genetic muscle disorders characterised clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Congenital ... 神経系疾患; 筋骨格疾患 (CMYO1A/1B) RYR1 [HSA:6261] [KO:K04961]
(CMYO2A/2B/2C) ACTA1 [HSA:58] [KO:K10354]
(CMYO3) SELENON [HSA:57190] [KO:K19874]
(CMYO4) TPM3 [HSA:7170] [KO:K09290]
(CMYO5) TTN [HSA:7273] [KO:K12567]
(CMYO6) MYH2 [HSA:4620] [KO:K24220]
(CMYO7) MYH7 [HSA:4625] [KO:K17751]
(CMYO8) ACTN2 [HSA:88] [KO:K21073]
(CMYO9A/9B) FXR1 [HSA:8087] [KO:K15516]
(CMYO10A/10B) MEGF10 [HSA:84466] [KO:K24068]
(CMYO11) HACD1 [HSA:9200] [KO:K10703]
(CMYO12) CNTN1 [HSA:1272] [KO:K06759]
(CMYO13) STAC3 [HSA:246329] [KO:K23713]
(CMYO14) MYL1 [HSA:4632] [KO:K05738]
(CMYO15) TNNC2 [HSA:7125] [KO:K12042]
(CMYO16) MYBPC1 [HSA:4604] [KO:K12557]
(CMYO17) MYOD1 [HSA:4654] [KO:K09064]
(CMYO18) CACNA1S [HSA:779] [KO:K04857]
(CMYO19) PAX7 [HSA:5081] [KO:K09381]
(CMYO20) RYR3 [HSA:6263] [KO:K04963]
(CMYO21) DNAJB4 [HSA:11080] [KO:K09510]
(CMYO22A/22B) SCN4A [HSA:6329] [KO:K04837]
(CMYO23) TPM2 [HSA:7169] [KO:K10374]
(CMYO24) MYPN [HSA:84665] [KO:K22028]
(CMYO25) JPH1 [HSA:56704] [KO:K19530]
(CMYO26) TUBA4A [HSA:7277] [KO:K07374]
(CMND) SPTBN4 [HSA:57731] [KO:K06115]
H01881 他の脳奇形を伴う複合皮質異形成 Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Patients exhibit mental retardation, strabismus combined with ... 先天奇形 (CDCBM1) TUBB3 [HSA:10381] [KO:K07375]
(CDCBM2) KIF5C [HSA:3800] [KO:K10396]
(CDCBM3) KIF2A [HSA:3796] [KO:K10393]
(CDCBM4) TUBG1 [HSA:7283] [KO:K10389]
(CDCBM5) TUBB2A [HSA:7280] [KO:K07375]
(CDCBM6) TUBB [HSA:203068] [KO:K07375]
(CDCBM7) TUBB2B [HSA:347733] [KO:K07375]
(CDCBM9) CTNNA2 [HSA:1496] [KO:K05691]
(CDCBM10) APC2 [HSA:10297] [KO:K02085]
(CDCBM11) KIF26A [HSA:26153] [KO:K10404]
(CDCBM12) CAMSAP1 [HSA:157922] [KO:K17493]
(CDCBM13) DYNC1H1 [HSA:1778] [KO:K10413]
H01882 アスペルガー症候群 Asperger syndrome (AS), a behavioral disorder that is related to autism, is associated with abnormal social functioning and repetitive behaviors but not with a decrease in intelligence or linguistic functionality ... 精神及び行動の障害 NLGN3 [HSA:54413] [KO:K07378]
NLGN4 [HSA:57502] [KO:K07378]
H01897 卵母細胞/受精卵/胚成熟停止 Human reproduction requires gamete maturation, fertilization, and early embryonic development. Oocyte maturation includes nuclear and cytoplasmic maturation, and abnormalities in the process will lead ... 生殖器系疾患 (OZEMA1) ZP1 [HSA:22917] [KO:K19926]
(OZEMA2) TUBB8 [HSA:347688] [KO:K07375]
(OZEMA3) ZP3 [HSA:7784] [KO:K19928]
(OZEMA4) PATL2 [HSA:197135] [KO:K24823]
(OZEMA5) WEE2 [HSA:494551] [KO:K06632]
(OZEMA6) ZP2 [HSA:7783] [KO:K19927]
(OZEMA7) PANX1 [HSA:24145] [KO:K03443]
(OZEMA8) BTG4 [HSA:54766] [KO:K14443]
(OZEMA9) TRIP13 [HSA:9319] [KO:K22399]
(OZEMA10) REC114 [HSA:283677] [KO:K26084]
(OZEMA11) ASTL [HSA:431705] [KO:K08778]
(OZEMA12) FBXO43 [HSA:286151] [KO:K10318]
(OZEMA13) ZFP36L2 [HSA:678] [KO:K18753]
(OZEMA14) CDC20 [HSA:991] [KO:K03363]
(OZEMA15) TLE6 [HSA:79816] [KO:K04497]
(OZEMA16) PADI6 [HSA:353238] [KO:K01481]
(OZEMA17) KPNA7 [HSA:402569] [KO:K15043]
(OZEMA18) NLRP2 [HSA:55655] [KO:K19409]
(OZEMA19) NLRP5 [HSA:126206] [KO:K22626]
(OZEMA20) MOS [HSA:4342] [KO:K04367]
(OZEMA21) CHEK1 [HSA:1111] [KO:K02216]
(OZEMA22) PABPC1L [HSA:80336] [KO:K13126]
(OZEMA23) TUBA4A [HSA:7277] [KO:K07374]
(OZEMA24) TUBA1C [HSA:84790] [KO:K07374]
40 件中 1 〜 30 を表示 1 2 次へ
[ KEGG | KEGG DISEASE | KEGG MEDICUS ]