Search Result

 Top
1 to 35 of 35
Entry Name Description Category Pathway Gene
H00019 Pancreatic cancer ... early, inactivation of the p16 gene at an intermediate stage, and the inactivation of p53, SMAD4, and BRCA2 occur relatively late. Activated K-ras engages multiple effector pathways. Although EGF receptors ... Cancer hsa05212 Pancreatic cancer KRAS [HSA:3845] [KO:K07827]
TP53 [HSA:7157] [KO:K04451]
SMAD4 [HSA:4089] [KO:K04501]
STK11 [HSA:6794] [KO:K07298]
ACVR1B [HSA:91] [KO:K13567]
ERBB2 (overexpression) [HSA:2064] [KO:K05083]
CDKN2A (mutation, deletion, promoter methylation) [HSA:1029] [KO:K06621]
NRG1 (fusion) [HSA:3084] [KO:K05455]
(PNCA1) PALLD [HSA:23022] [KO:K22029]
(PNCA2) BRCA2 [HSA:675] [KO:K08775]
(PNCA3) PALB2 [HSA:79728] [KO:K10897]
(PNCA4) BRCA1 [HSA:672] [KO:K10605]
(PNCA5) RABL3 [HSA:285282] [KO:K07933]
H00027 Ovarian cancer ... ovarian cancers arise in women who have inherited mutations in cancer susceptibility genes (BRCA1 or BRCA2). The vast majority of ovarian cancers are sporadic, resulting from the accumulation of genetic damage ... Cancer BRCA1 (germline mutation / deletion) [HSA:672] [KO:K10605]
BRCA2 (germline mutation / deletion) [HSA:675] [KO:K08775]
MSH2 (germline mutation) [HSA:4436] [KO:K08735]
MLH1 (germline mutation) [HSA:4292] [KO:K08734]
ERBB2 (amplification / overexpression) [HSA:2064] [KO:K05083]
K-ras (mutation) [HSA:3845] [KO:K07827]
AKT2 (amplification) [HSA:208] [KO:K04456]
PIK3CA (amplification) [HSA:5290] [KO:K00922]
c-MYC (overexpression) [HSA:4609] [KO:K04377]
p53 (mutation / deletion, overexpression) [HSA:7157] [KO:K04451]
CTNNB1 [HSA:1499] [KO:K02105]
PRKN [HSA:5071] [KO:K04556]
OPCML [HSA:4978] [KO:K06773]
AKT1 [HSA:207] [KO:K04456]
CDH1 [HSA:999] [KO:K05689]
H00031 Breast cancer Breast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gland ... Cancer hsa05224 Breast cancer BRCA1 (germline mutation, hypermethylation) [HSA:672] [KO:K10605]
BRCA2 [HSA:675] [KO:K08775]
BARD1 [HSA:580] [KO:K10683]
BRIP1 [HSA:83990] [KO:K15362]
PALB2 [HSA:79728] [KO:K10897]
RAD51 [HSA:5888] [KO:K04482]
RAD54L [HSA:8438] [KO:K10875]
XRCC3 [HSA:7517] [KO:K10880]
ERBB2/HER2 (overexpression) [HSA:2064] [KO:K05083]
ESR1/ER1 [HSA:2099] [KO:K08550]
PGR [HSA:5241] [KO:K08556]
GATA3 [HSA:2625] [KO:K17895]
PIK3CA [HSA:5290] [KO:K00922]
TP53 [HSA:7157] [KO:K04451]
PPM1D [HSA:8493] [KO:K10147]
RB1CC1 [HSA:9821] [KO:K17589]
HMMR [HSA:3161] [KO:K06267]
NQO2 [HSA:4835] [KO:K08071]
SLC22A18 [HSA:5002] [KO:K08214]
PTEN [HSA:5728] [KO:K01110]
EGFR (overexpression) [HSA:1956] [KO:K04361]
KIT (overexpression) [HSA:3815] [KO:K05091]
NOTCH1 (overexpression) [HSA:4851] [KO:K02599]
NOTCH4 (overexpression) [HSA:4855] [KO:K20996]
FZD7 (overexpression) [HSA:8324] [KO:K02432]
LRP6 (overexpression) [HSA:4040] [KO:K03068]
FGFR1 (amplification) [HSA:2260] [KO:K04362]
CCND1 (amplification) [HSA:595] [KO:K04503]
H00042 Glioma Gliomas are the most common of the primary brain tumors and account for more than 40% of all central nervous system neoplasms. Gliomas include tumours that are composed predominantly of astrocytes (astrocytomas) ... Cancer hsa05214 Glioma (GLM1) IDH1 [HSA:3417] [KO:K00031]
(GLM1) TP53 [HSA:7157] [KO:K04451]
(GLM1) ERBB2 [HSA:2064] [KO:K05083]
(GLM2) PTEN [HSA:5728] [KO:K01110]
(GLM3) BRCA2 [HSA:675] [KO:K08775]
(GLM9) POT1 [HSA:25913] [KO:K11109]
EGFR (amplification, overexpression) [HSA:1956] [KO:K04361]
MDM2 (amplification, overexpression) [HSA:4193] [KO:K06643]
CDK4 (amplification) [HSA:1019] [KO:K02089]
PDGFA (overexpression) [HSA:5154] [KO:K04359]
PDGFB (overexpression) [HSA:5155] [KO:K17386]
PDGFRA (overexpression, amplification) [HSA:5156] [KO:K04363]
PDGFRB (overexpression, amplification) [HSA:5159] [KO:K05089]
RB1 (loss) [HSA:5925] [KO:K06618]
CDKN2A [HSA:1029] [KO:K06621]
H00056 Alzheimer disease
Dementia due to Alzheimer disease 		... Abeta peptides, specifically the more amyloidogenic form, Abeta42. It was proposed that Abeta forms Ca2+ permeable pores and binds to and modulates multiple synaptic proteins, including NMDAR, mGluR5, ... Neurodegenerative disease hsa05010 Alzheimer disease (AD1) APP [HSA:351] [KO:K04520]
(AD2) APOE [HSA:348] [KO:K04524]
(AD3) PSEN1 [HSA:5663] [KO:K04505]
(AD4) PSEN2 [HSA:5664] [KO:K04522]
(AD9) ABCA7 [HSA:10347] [KO:K05645]
(AD17) TREM2 [HSA:54209] [KO:K14378]
(AD18) ADAM10 [HSA:102] [KO:K06704]
H00057 Parkinson disease ... mutations and environmental factors are known to cause disease due to oxidative stress, intracellular Ca2+ homeostasis impairment, mitochondrial dysfunctions and altered protein handling compromising key ... Neurodegenerative disease hsa05012 Parkinson disease (PARK1/PARK4) SNCA (duplication, triplication) [HSA:6622] [KO:K04528]
(PARK2) PRKN [HSA:5071] [KO:K04556]
(PARK5) UCHL1 [HSA:7345] [KO:K05611]
(PARK6) PINK1 [HSA:65018] [KO:K05688]
(PARK7) PARK7 [HSA:11315] [KO:K05687]
(PARK8) LRRK2 [HSA:120892] [KO:K08844]
(PARK9) ATP13A2 [HSA:23400] [KO:K13526]
(PARK11) GIGYF2 [HSA:26058] [KO:K18730]
(PARK13) HTRA2 [HSA:27429] [KO:K08669]
(PARK14) PLA2G6 [HSA:8398] [KO:K16343]
(PARK15) FBXO7 [HSA:25793] [KO:K10293]
(PARK17) VPS35 [HSA:55737] [KO:K18468]
(PARK18) EIF4G1 [HSA:1981] [KO:K03260]
(PARK19A/19B) DNAJC6 [HSA:9829] [KO:K09526]
(PARK20) SYNJ1 [HSA:8867] [KO:K20279]
(PARK22) CHCHD2 [HSA:51142] [KO:K22758]
(PARK23) VPS13C [HSA:54832] [KO:K19525]
(PARK24) PSAP [HSA:5660] [KO:K12382]
(PARK25) PTPA [HSA:5524] [KO:K17605]
(PARK26) RAB32 [HSA:10981] [KO:K07918]
MAPT [HSA:4137] [KO:K04380]
H00059 Huntington disease ... neuritic aggregates. mHtt also alters vesicular transport and recycling, causes cytosolic and mitochondrial Ca2+ overload, triggers endoplasmic reticulum stress through proteasomal dysfunction, and impairs autophagy ... Neurodegenerative disease hsa05016 Huntington disease (HD) HTT (CAG repeat expansion) [HSA:3064] [KO:K04533]
H00063 Spinocerebellar ataxia (SCA) The autosomal dominant spinocerebellar ataxias (SCAs) are a group of progressive neurodegenerative diseases characterised by loss of balance and motor coordination due to the primary dysfunction of the ... Neurodegenerative disease hsa05017 Spinocerebellar ataxia (SCA1) ATXN1 [HSA:6310] [KO:K23616]
(SCA2) ATXN2 [HSA:6311] [KO:K23625]
(SCA3) ATXN3 [HSA:4287] [KO:K11863]
(SCA4) ZFHX3 [HSA:463] [KO:K09378]
(SCA5) SPTBN2 [HSA:6712] [KO:K23932]
(SCA6) CACNA1A [HSA:773] [KO:K04344]
(SCA7) ATXN7 [HSA:6314] [KO:K11318]
(SCA8) ATXN8OS [HSA:6315] [KO:K23933]
(SCA10) ATXN10 [HSA:25814] [KO:K19323]
(SCA11) TTBK2 [HSA:146057] [KO:K08815]
(SCA12) PPP2R2B [HSA:5521] [KO:K04354]
(SCA13) KCNC3 [HSA:3748] [KO:K04889]
(SCA14) PRKCG [HSA:5582] [KO:K19663]
(SCA15/29) ITPR1 [HSA:3708] [KO:K04958]
(SCA17) TBP [HSA:6908] [KO:K03120]
(SCA19/22) KCND3 [HSA:3752] [KO:K04893]
(SCA21) TMEM240 [HSA:339453] [KO:K24870]
(SCA23) PDYN [HSA:5173] [KO:K15840]
(SCA25) PNPT1 [HSA:87178] [KO:K00962]
(SCA26) EEF2 [HSA:1938] [KO:K03234]
(SCA27A/27B) FGF14 [HSA:2259] [KO:K23920]
(SCA28) AFG3L2 [HSA:10939] [KO:K08956]
(SCA31) BEAN1 [HSA:146227] [KO:K19324]
(SCA34) ELOVL4 [HSA:6785] [KO:K10249]
(SCA35) TGM6 [HSA:343641] [KO:K05624]
(SCA36) NOP56 [HSA:10528] [KO:K14564]
(SCA37) DAB1 [HSA:1600] [KO:K20054]
(SCA38) ELOVL5 [HSA:60481] [KO:K10244]
(SCA40) CCDC88C [HSA:440193] [KO:K25811]
(SCA41) TRPC3 [HSA:7222] [KO:K04966]
(SCA42/42ND) CACNA1G [HSA:8913] [KO:K04854]
(SCA43) MME [HSA:4311] [KO:K01389]
(SCA44) GRM1 [HSA:2911] [KO:K04603]
(SCA45) FAT2 [HSA:2196] [KO:K16506]
(SCA46) PLD3 [HSA:23646] [KO:K16860]
(SCA47) PUM1 [HSA:9698] [KO:K17943]
(SCA48) STUB1 [HSA:10273] [KO:K09561]
(SCA49) SAMD9L [HSA:219285] [KO:K23949]
(SCA50) NPTX1 [HSA:4884] [KO:K25709]
(SCA51) THAP11 [HSA:57215] [KO:K23211]
H00093 Combined immunodeficiency ... recessive manner. Recurrent and opportunistic infections occur within the first year of life. The mutations in genes responsible for CRAC channel function, ORAI1 and STIM1, cause the defect in Ca2+ influx. Primary immunodeficiency (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]
(IMD132) ITPR3 [HSA:3710] [KO:K04960]
(CCHDG) RAG1 [HSA:5896] [KO:K10628]
(CCHDG) RAG2 [HSA:5897] [KO:K10988]
H00168 Oculocutaneous albinism Oculocutaneous albinism (OCA) is a genetically heterogeneous congenital disorder of melanin biosynthesis characterized by decreased or absent pigmentation in the hair, skin, and eyes. Inherited metabolic disorder (OCA1) TYR [HSA:7299] [KO:K00505]
(OCA2) OCA2 [HSA:4948] [KO:K24200]
(OCA2) MC1R [HSA:4157] [KO:K04199]
(OCA3) TYRP1 [HSA:7306] [KO:K00506]
(OCA4) SLC45A2 [HSA:51151] [KO:K15378]
(OCA6) SLC24A5 [HSA:283652] [KO:K13753]
(OCA7) LRMDA [HSA:83938] [KO:K24399]
(OCA8) DCT [HSA:1638] [KO:K01827]
H00238 Fanconi anemia Fanconi anemia (FA), a recessive syndrome with both autosomal and X-linked inheritance, features diverse clinical symptoms, such as progressive bone marrow failures, chromosomal instability and susceptibility ... Hematologic disease (FANCA) FANCA [HSA:2175] [KO:K10888]
(FANCB) FANCB [HSA:2187] [KO:K10889]
(FANCC) FANCC [HSA:2176] [KO:K10890]
(FANCD1) BRCA2 [HSA:675] [KO:K08775]
(FANCD2) FANCD2 [HSA:2177] [KO:K10891]
(FANCE) FANCE [HSA:2178] [KO:K10892]
(FANCF) FANCF [HSA:2188] [KO:K10893]
(FANCG) FANCG [HSA:2189] [KO:K10894]
(FANCI) FANCI [HSA:55215] [KO:K10895]
(FANCJ) BRIP1 [HSA:83990] [KO:K15362]
(FANCL) FANCL [HSA:55120] [KO:K10606]
(FANCM) FANCM [HSA:57697] [KO:K10896]
(FANCN) PALB2 [HSA:79728] [KO:K10897]
(FANCO) RAD51C [HSA:5889] [KO:K10870]
(FANCP) SLX4 [HSA:84464] [KO:K10484]
(FANCQ) ERCC4 [HSA:2072] [KO:K10848]
(FANCR) RAD51 [HSA:5888] [KO:K04482]
(FANCS) BRCA1 [HSA:672] [KO:K10605]
(FANCT) UBE2T [HSA:29089] [KO:K13960]
(FANCU) XRCC2 [HSA:7516] [KO:K10879]
(FANCV) MAD2L2 [HSA:10459] [KO:K13728]
(FANCW) RFWD3 [HSA:55159] [KO:K15691]
(FANCX) FAAP100 [HSA:80233] [KO:K10993]
H00241 Osteopetrosis with renal tubular acidosis
Renal tubular acidosis type 3 		... maximally despite severe degrees of systemic acidemia. The condition is due to an inherited deficiency of carbonic anhydrase II (CAII) caused by a recessive mutation in the CA2 gene on chromosome 8q22. Urinary system disease CA2 [HSA:760] [KO:K18245]
H00292 Hypertrophic cardiomyopathy ... encode protein constituents of the sarcomere have been identified in HCM. These mutations increase the Ca2+ sensitivity of cardiac myofilaments. Increased myofilament Ca2+ sensitivity is expected to increase ... Cardiovascular disease hsa05410 Hypertrophic cardiomyopathy (CMH1) MYH7 [HSA:4625] [KO:K17751]
(CMH1) MYLK2 [HSA:85366] [KO:K00907]
(CMH1) CAV3 [HSA:859] [KO:K12959]
(CMH2) TNNT2 [HSA:7139] [KO:K12045]
(CMH3) TPM1 [HSA:7168] [KO:K10373]
(CMH4) MYBPC3 [HSA:4607] [KO:K12568]
(CMH6) PRKAG2 [HSA:51422] [KO:K07200]
(CMH7) TNNI3 [HSA:7137] [KO:K12044]
(CMH8) MYL3 [HSA:4634] [KO:K12749]
(CMH9) TTN [HSA:7273] [KO:K12567]
(CMH10) MYL2 [HSA:4633] [KO:K10351]
(CMH11) ACTC1 [HSA:70] [KO:K12314]
(CMH12) CSRP3 [HSA:8048] [KO:K09377]
(CMH13) TNNC1 [HSA:7134] [KO:K05865]
(CMH14) MYH6 [HSA:4624] [KO:K17751]
(CMH15) VCL [HSA:7414] [KO:K05700]
(CMH16) MYOZ2 [HSA:51778] [KO:K26050]
(CMH17) JPH2 [HSA:57158] [KO:K19530]
(CMH18) PLN [HSA:5350] [KO:K05852]
(CMH20) NEXN [HSA:91624] [KO:K23918]
(CMD1KK/CMH22) MYPN [HSA:84665] [KO:K22028]
(CMD1AA/CMH23) ACTN2 [HSA:88] [KO:K21073]
(CMD1C/CMH24) LDB3 [HSA:11155] [KO:K19867]
(CMH25) TCAP [HSA:8557] [KO:K19879]
(CMH26) FLNC [HSA:2318] [KO:K27393]
(CMH27) ALPK3 [HSA:57538] [KO:K08868]
(CMH28) FHOD3 [HSA:80206] [KO:K23939]
(CMH29) KLHL24 [HSA:54800] [KO:K10461]
(CMH30) CORIN [HSA:10699] [KO:K09614]
(CMH31) TRIM63 [HSA:84676] [KO:K10655]
H00294 Dilated cardiomyopathy ... patients with "idiopathic" DCM, may increase the concentration of intracellular cAMP and intracellular Ca2+, a condition often leading to a transient hyper-performance of the heart followed by depressed heart ... Cardiovascular disease hsa05414 Dilated cardiomyopathy (CMD1A/DCM-HH) LMNA [HSA:4000] [KO:K12641]
(CMD1C/CMD2L) LDB3 [HSA:11155] [KO:K19867]
(CMD1D) TNNT2 [HSA:7139] [KO:K12045]
(CMD1E) SCN5A [HSA:6331] [KO:K04838]
(CMD1G) TTN [HSA:7273] [KO:K12567]
(CMD1I) DES [HSA:1674] [KO:K07610]
(CMD1J) EYA4 [HSA:2070] [KO:K17622]
(CMD1L) SGCD [HSA:6444] [KO:K12563]
(CMD1M) CSRP3 [HSA:8048] [KO:K09377]
(CMD1N) TCAP [HSA:8557] [KO:K19879]
(CMD1O) ABCC9 [HSA:10060] [KO:K05033]
(CMD1P) PLN [HSA:5350] [KO:K05852]
(CMD1R) ACTC1 [HSA:70] [KO:K12314]
(CMD1S) MYH7 [HSA:4625] [KO:K17751]
(CMD1U) PSEN1 [HSA:5663] [KO:K04505]
(CMD1V) PSEN2 [HSA:5664] [KO:K04522]
(CMD1W) VCL [HSA:7414] [KO:K05700]
(CMD1X) FKTN [HSA:2218] [KO:K19872]
(CMD1Y) TPM1 [HSA:7168] [KO:K10373]
(CMD1Z) TNNC1 [HSA:7134] [KO:K05865]
(CMD1AA) ACTN2 [HSA:88] [KO:K21073]
(CMD1BB) DSG2 [HSA:1829] [KO:K07597]
(CMD1CC/CMD2M) NEXN [HSA:91624] [KO:K23918]
(CMD1DD) RBM20 [HSA:282996] [KO:K24052]
(CMD1EE) MYH6 [HSA:4624] [KO:K17751]
(CMD1FF/CMD2A) TNNI3 [HSA:7137] [KO:K12044]
(CMD1GG) SDHA [HSA:6389] [KO:K00234]
(CMD1HH) BAG3 [HSA:9531] [KO:K09557]
(CMD1II) CRYAB [HSA:1410] [KO:K09542]
(CMD1JJ) LAMA4 [HSA:3910] [KO:K06241]
(CMD1KK) MYPN [HSA:84665] [KO:K22028]
(CMD1LL) PRDM16 [HSA:63976] [KO:K22410]
(CMD1MM) MYBPC3 [HSA:4607] [KO:K12568]
(CMD1NN) RAF1 [HSA:5894] [KO:K04366]
(CMD1OO) VEZF1 [HSA:7716] [KO:K26610]
(CMD1QQ) C10orf71 [HSA:118461] [KO:K28413]
(CMD2B) GATAD1 [HSA:57798] [KO:K23407]
(CMD2C) PPCS [HSA:79717] [KO:K01922]
(CMD2D) RPL3L [HSA:6123] [KO:K02925]
(CMD2E) JPH2 [HSA:57158] [KO:K19530]
(CMD2F) BAG5 [HSA:9529] [KO:K09559]
(CMD2G) LMOD2 [HSA:442721] [KO:K22030]
(CMD2H) GET3 [HSA:439] [KO:K01551]
(CMD2I) CAP2 [HSA:10486] [KO:K17261]
(CMD2J) FLII [HSA:2314] [KO:K27496]
(CMD2K) MYZAP [HSA:100820829] [KO:K22031]
(CMD3B) DMD [HSA:1756] [KO:K10366]
HLA-DRB1 [HSA:3123] [KO:K06752]
HLA-DPA1 [HSA:3113] [KO:K06752]
HLA-DPB1 [HSA:3115] [KO:K06752]
HLA-DQA1 [HSA:3117] [KO:K06752]
HLA-DQB1 [HSA:3119] [KO:K06752]
H00436 Osteopetrosis The osteopetroses are a heterogeneous group of disorders characterized by increased bone density and the replacement of trabecular bone with compact bone due to reduced osteoclastic bone resorption. Some ... Congenital malformation (OPTA1) LRP5 [HSA:4041] [KO:K03068]
(OPTA2/B4) CLCN7 [HSA:1186] [KO:K05016]
(OPTA3/B6) PLEKHM1 [HSA:9842] [KO:K23282]
(OPTB1) TCIRG1 [HSA:10312] [KO:K02154]
(OPTB2) TNFSF11 [HSA:8600] [KO:K05473]
(OPTB3) CA2 [HSA:760] [KO:K18245]
(OPTB5) OSTM1 [HSA:28962] [KO:K23863]
(OPTB7) TNFRSF11A [HSA:8792] [KO:K05147]
(OPTB8) SNX10 [HSA:29887] [KO:K17924]
(OPTB9) SLC4A2 [HSA:6522] [KO:K13855]
H00507 Dyskeratosis congenita Dyskeratosis congenita (DC) is a severe inherited bone marrow failure syndrome with associated cutaneous and noncutaneous abnormalities. In most cases, the inheritance pattern is X-linked recessive, while ... Ribosomopathy (DKCX) DKC1 [HSA:1736] [KO:K11131]
(DKCA1) TERC [HSA:7012] [KO:K22183]
(DKCA2/B4) TERT [HSA:7015] [KO:K11126]
(DKCA3/A5) TINF2 [HSA:26277] [KO:K11112]
(DKCA4/B5) RTEL1 [HSA:51750] [KO:K11136]
(DKCA6/B7) ACD [HSA:65057] [KO:K11114]
(DKCB1) NOP10 [HSA:55505] [KO:K11130]
(DKCB2) NHP2 [HSA:55651] [KO:K11129]
(DKCB3) WRAP53 [HSA:55135] [KO:K23314]
(DKCB6) PARN [HSA:5073] [KO:K01148]
(DKCB8) DCLRE1B [HSA:64858] [KO:K15341]
(DKCD) TYMS [HSA:7298] [KO:K00560]
H00715 Darier disease
Dyskeratosis follicularis 		... keratinization. Darier disease is caused by mutations in ATP2A2, the gene encoding a sarco/endoplasmic reticulum Ca2+-ATPase. Because of some similarities in their etiopathology, Hailey-Hailey disease [DS:H00844] is ... Congenital malformation ATP2A2 [HSA:488] [KO:K05853]
H00754 3-Methylglutaconic aciduria 3-Methylglutaconic aciduria (MGCA) is a group of metabolic disorders characterized by increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid. Nine distinct forms of MGCA have ... Inherited metabolic disorder (MGCA1) AUH [HSA:549] [KO:K05607]
(MGCA2) TAFAZZIN [HSA:6901] [KO:K13511]
(MGCA3) OPA3 [HSA:80207] [KO:K23166]
(MGCA5) DNAJC19 [HSA:131118] [KO:K09539]
(MGCA6) SERAC1 [HSA:84947] [KO:K23504]
(MGCA7A/7B) CLPB [HSA:81570] [KO:K03695]
(MGCA8) HTRA2 [HSA:27429] [KO:K08669]
(MGCA9) TIMM50 [HSA:92609] [KO:K17496]
H00837 Leber congenital amaurosis 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 ... Nervous system disease (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]
H00844 Familial benign chronic pemphigus
Hailey-Hailey disease 		... all cases, positive family history is detected. Mutations in ATP2C1 that encodes a secretory pathway Ca2+/Mn2+-ATPase in the Golgi apparatus impair desmosomal keratinocyte adhesion in Hailey-Hailey disease Congenital malformation ATP2C1 [HSA:27032] [KO:K01537]
H01217 Primary localized cutaneous amyloidosis Primary localized cutaneous amyloidosis (PLCA) is a chronic itchy skin disorder associated with amyloid deposits in the superficial dermis. It is a purely cutaneous disease with no association with systemic ... Skin disease (PLCA1) OSMR [HSA:9180] [KO:K05057]
(PLCA2) IL31RA [HSA:133396] [KO:K22630]
(PLCA3) GPNMB [HSA:10457] [KO:K20732]
H01402 Nicolaides-Baraitser syndrome Nicolaides-Baraitser syndrome (NBS) is characterized by sparse hair, distinctive facial morphology, distal-limb anomalies, and intellectual disability. Heterozygous missense mutations in SMARCA2 cause this disease. Congenital malformation SMARCA2 [HSA:6595] [KO:K11647]
H01554 Fallopian tube cancer Fallopian tube cancer is a rare, aggressive gynecologic malignancy. Recent genetic and immunohistochemical studies strongly suggest that high-grade serous adenocarcinoma (SAC) involving the ovary likely ... Cancer BRCA1 (mutation) [HSA:672] [KO:K10605]
BRCA2 (mutation) [HSA:675] [KO:K08775]
TP53 (overexpression) [HSA:7157] [KO:K04451]
ERBB2 (overexpression) [HSA:2064] [KO:K05083]
c-myc (overexpression) [HSA:4609] [KO:K04377]
H01894 Multiple mitochondrial dysfunctions syndrome Multiple mitochondrial dysfunctions syndrome (MMDS) is a severe autosomal recessive disease with onset in early infancy. Pathogenic variations in genes encoding several components of the Fe-S cluster biogenesis ... Inherited metabolic disorder, Mitochondrial disease (MMDS1) NFU1 [HSA:27247] [KO:K22074]
(MMDS2) BOLA3 [HSA:388962] [KO:K22075]
(MMDS3) IBA57 [HSA:200205] [KO:K22073]
(MMDS4) ISCA2 [HSA:122961] [KO:K22072]
(MMDS5) ISCA1 [HSA:81689] [KO:K22063]
(MMDS6) PMPCB [HSA:9512] [KO:K17732]
(MMDS7) GCSH [HSA:2653] [KO:K02437]
(MMDS9B) FDXR [HSA:2232] [KO:K18914]
(MMDS10) CIAO1 [HSA:9391] [KO:K24730]
H01904 Microphthalmia with linear skin defects syndrome
Linear skin defects with multiple congenital anomalies
MIDAS syndrome 		Microphthalmia with linear skin defects (MLS) syndrome is an X-linked male-lethal disorder, also known as MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), or Linear skin defects with ... Congenital malformation (LSDMCA1) HCCS [HSA:3052] [KO:K01764]
(LSDMCA2) COX7B [HSA:1349] [KO:K02271]
(LSDMCA3) NDUFB11 [HSA:54539] [KO:K11351]
H01935 Familial hypercholanemia Familial hypercholanemia is characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. Mutations in EPHX1, TJP2, and BAAT may disrupt bile acid transport and circulation Inherited metabolic disorder (FHCA1) TJP2 [HSA:9414] [KO:K06098]
(FHCA2) SLC10A1 [HSA:6554] [KO:K14341]
(FHCA3) BAAT [HSA:570] [KO:K00659]
H02215 Childhood absence epilepsy Childhood absence epilepsy (CAE/ECA) is a common idiopathic generalized epilepsy, accounts for 10% to 12% of epilepsy in children under 16 years of age. This condition begins in childhood with absences ... Nervous system disease (ECA2) GABRG2 [HSA:2566] [KO:K05186]
(ECA4) GABRA1 [HSA:2554] [KO:K05175]
(ECA5) GABRB3 [HSA:2562] [KO:K05181]
(ECA6) CACNA1H [HSA:8912] [KO:K04855]
H02258 Tubular aggregate myopathy ... reported that activating mutations in STIM1 and ORAI1 cause TAM. ORAI1 encodes a subunit of calcium release-activated calcium (CRAC) channel, and STIM1 encodes a Ca2+ sensor that controls CRAC channels. Musculoskeletal disease (TAM1) STIM1 [HSA:6786] [KO:K16059]
(TAM2) ORAI1 [HSA:84876] [KO:K16056]
H02281 Isolated anhidrosis with normal sweat glands
Dann-Epstein-Sohar syndrome 		... very rare autosomal recessive anhidrosis. A homozygous missense mutation in ITPR2 has been identified in all affected family members. ITPR2 encodes a Ca2+ release channel in the endoplasmic reticulum. Skin disease ITPR2 [HSA:3709] [KO:K04959]
H02301 Nephroblastoma
Wilms tumor 		Nephroblastoma, also called Wilms tumor (WT), is the most common renal tumor of childhood. It can present as a single nodule, as multifocal unilateral lesions or as bilateral tumours. Typically, nephroblastoma ... Cancer (WT1) WT1 [HSA:7490] [KO:K09234]
(WT5) POU6F2 [HSA:11281] [KO:K09368]
(WT6) REST [HSA:5978] [KO:K09222]
(WT7) TRIM28 [HSA:10155] [KO:K08882]
CTNNB1 [HSA:1499] [KO:K02105]
TP53 [HSA:7157] [KO:K04451]
BRCA2 [HSA:675] [KO:K08775]
GPC3 [HSA:2719] [KO:K08109]
H02310 Renal tubular acidosis Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. RTA can be subcategorized into different ... Urinary system disease (type 1) SLC4A1 [HSA:6521] [KO:K06573]
(type 1) ATP6V1B1 [HSA:525] [KO:K02147]
(type 1) ATP6V0A4 [HSA:50617] [KO:K02154]
(type 2) SLC4A4 [HSA:8671] [KO:K13575]
(type 3) CA2 [HSA:760] [KO:K18245]
(type 4) SCNN1A [HSA:6337] [KO:K04824]
(type 4) SCNN1B [HSA:6338] [KO:K04825]
(type 4) SCNN1G [HSA:6340] [KO:K04827]
(type 4) NR3C2 [HSA:4306] [KO:K08555]
(type 4) WNK1 [HSA:65125] [KO:K08867]
(type 4) WNK4 [HSA:65266] [KO:K08867]
(type 4) KLHL3 [HSA:26249] [KO:K10443]
(type 4) CUL3 [HSA:8452] [KO:K03869]
H02447 Myopathy with extrapyramidal signs ... extrapyramidal movement disorder. Mutations in MICU1 have been reported in patients with this disease. MICU1 encodes a regulatory subunit of the Ca2+ uniporter complex in the inner mitochondrial membrane. Nervous system disease MICU1 [HSA:10367] [KO:K22827]
H02463 Syndromic intellectual developmental disorder Syndromic intellectual developmental disorder (IDD) is a group of disorders characterized by intellectual disability presented together with additional features such as facial dysmorphisms or congenital ... Mental and behavioural disorder (IDDRP) SCAPER [HSA:49855] [KO:K24869]
(IDDCDF) TMEM94 [HSA:9772] [KO:K25291]
(IDDFP) BRPF1 [HSA:7862] [KO:K11348]
(IDDFSDA) OTUD6B [HSA:51633] [KO:K18342]
(IDDGIP) PPM1D [HSA:8493] [KO:K10147]
(DILOS) BCL11A [HSA:53335] [KO:K22045]
(IDDBCS) PHF21A [HSA:51317] [KO:K24651]
(IDDFBA) FBXO11 [HSA:80204] [KO:K10297]
(IDDEBF) ALG14 [HSA:199857] [KO:K07441]
(IDDHDF) CCNK [HSA:8812] [KO:K23326]
(IDDHBA) CDK8 [HSA:1024] [KO:K02208]
(IDDMSSD) PAK1 [HSA:5058] [KO:K04409]
(IDDNPF) SLC45A1 [HSA:50651] [KO:K15378]
(IDDECA) RORA [HSA:6095] [KO:K08532]
(IDDSELD) SETD1B [HSA:23067] [KO:K11422]
(IDDHISD) TNPO2 [HSA:30000] [KO:K18727]
(IDDSSAD) ACTL6B [HSA:51412] [KO:K11652]
(IDDFSTA) BCL11B [HSA:64919] [KO:K22046]
(FHEIG) KCNK4 [HSA:50801] [KO:K04915]
(HIDEA) P4HTM [HSA:54681] [KO:K06711]
(IDPOGSA) ABCA2 [HSA:20] [KO:K05642]
(IDDHISD) TNPO2 [HSA:30000] [KO:K18727]
(IDDPADS) PDE2A [HSA:5138] [KO:K18283]
(IDDSAPN) NEMF [HSA:9147] [KO:K24971]
(CAGS) ANKRD17 [HSA:26057] [KO:K16726]
(MRFACD) MED13L [HSA:23389] [KO:K15164]
(IDDMDS) LGI3 [HSA:203190] [KO:K19999]
(IDDOF) MTSS2 [HSA:92154] [KO:K20128]
(IDDPN) NUDT2 [HSA:318] [KO:K01518]
H02531 Familial breast-ovarian cancer ... is considered to be polygenic. The most important breast cancer susceptibility genes are BRCA1 and BRCA2. Mutations in these genes confer a high risk of early-onset breast cancer and also an increased risk ... Cancer (BROVCA1) BRCA1 [HSA:672] [KO:K10605]
(BROVCA2) BRCA2 [HSA:675] [KO:K08775]
(BROVCA3) RAD51C [HSA:5889] [KO:K10870]
(BROVCA4) RAD51D [HSA:5892] [KO:K10871]
(BROVCA5) PALB2 [HSA:79728] [KO:K10897]
H02974 Blepharophimosis-impaired intellectual development syndrome ... tip along with variable degree of intellectual disability. It has been reported that mutations in SMARCA2 cause BIS. SMARCA2 encodes a catalytic subunit of SWI/SNF chromatin remodeling complex and its mutations ... Congenital malformation SMARCA2 [HSA:6595] [KO:K11647]
1 to 35 of 35
[ KEGG | DISEASE | DRUG | MEDICUS ]