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Entry	Name	Description	Category	Pathway	Gene
H00045	Pancreatic neuroendocrine tumor	... Gene), DAXX/ATRX (Death-Domain Associated Protein/Mental Retardation Syndrome X-Linked Genes) and the mTOR pathway (Mammalian Target of Rapamycin). A germline mutation in the MEN1 tumor suppressor gene causes ...	Cancer		MEN1 [HSA:4221] [KO:K14970] DAXX [HSA:1616] [KO:K02308] ATRX [HSA:546] [KO:K10779]
H00048	Hepatocellular carcinoma Liver cancer	... pathway (CTNNB1 and AXIN1), the phosphatidylinositol-3 kinase (PI3K)/AKT/mammalian target of rapamycin (mTOR) pathway. Recent studies using whole-exome sequencing have revealed recurrent mutations in new driver ...	Cancer	hsa05225 Hepatocellular carcinoma	TGFA (overexpression) [HSA:7039] [KO:K08774] IGF2 (overexpression) [HSA:3481] [KO:K13769] IGF1R (overexpression) [HSA:3480] [KO:K05087] TERT (overexpression) [HSA:7015] [KO:K11126] FZD7 (overexpression) [HSA:8324] [KO:K02432] HGF (overexpression) [HSA:3082] [KO:K05460] MET (mutation, overexpression) [HSA:4233] [KO:K05099] MYC (amplification) [HSA:4609] [KO:K04377] RB1 (loss) [HSA:5925] [KO:K06618] CDKN2A (deletion) [HSA:1029] [KO:K06621] TGFBR2 (reduced expression) [HSA:7048] [KO:K04388] TP53 [HSA:7157] [KO:K04451] PTEN [HSA:5728] [KO:K01110] CTNNB1 [HSA:1499] [KO:K02105] AXIN1 [HSA:8312] [KO:K02157] KEAP1 [HSA:9817] [KO:K10456] NFE2L2 [HSA:4780] [KO:K05638] PIK3CA [HSA:5290] [KO:K00922] ARID1A [HSA:8289] [KO:K11653] ARID2 [HSA:196528] [KO:K11765] CASP8 [HSA:841] [KO:K04398] IGF2R [HSA:3482] [KO:K06564]
H00915	Tuberous sclerosis complex Bourneville-Pringle disease	... products form a physical and functional complex to limit activation of the mammalian target rapamycin (mTOR) complex 1. When these genes are deficient, mTOR complex 1 is constitutively up-regulated, leading ...	Congenital malformation		(TSC1) TSC1 [HSA:7248] [KO:K07206] (TSC2) TSC2 [HSA:7249] [KO:K07207]
H01251	Focal cortical dysplasia of Taylor Focal cortical dysplasia type II	Focal cortical dysplasia of Taylor (FCDT) is a subtype of cortical displasias. FCDT is characterized by epilepsy associated malformations that are often composed of balloon cells and dysplastic neurons ...	Congenital malformation		MTOR [HSA:2475] [KO:K07203] TSC1 [HSA:7248] [KO:K07206] TSC2 [HSA:7249] [KO:K07207]
H01510	Malignant paraganglioma Pheochromocytoma	... hypoxic pathway, while the second cluster contains all RET- , NF1-, MAX and TMEM127- mutated tumors and is associated to the activation of MAPK and mTOR (mammalian target of rapamycin) signaling pathways.	Cancer		SDHD [HSA:6392] [KO:K00237] SDHB [HSA:6390] [KO:K00235] SDHC [HSA:6391] [KO:K00236] NF1 [HSA:4763] [KO:K08052] RET [HSA:5979] [KO:K05126] VHL [HSA:7428] [KO:K03871] TMEM127 [HSA:55654] [KO:K25206] MAX [HSA:4149] [KO:K04453] KIF1B [HSA:23095] [KO:K10392] EPAS1 [HSA:2034] [KO:K09095] FH [HSA:2271] [KO:K01679]
H01556	Meningioma	... non-NF2 meningiomas. The recent identification of somatic mutations in components of the SHH-GLI1 and AKT1-MTOR signaling pathways indicates the potential for cross talk of these pathways in the development of ...	Cancer		NF2 [HSA:4771] [KO:K16684] SMARCB1 [HSA:6598] [KO:K11648] SMARCE1 [HSA:6605] [KO:K11651] SUFU [HSA:51684] [KO:K06229] PTEN [HSA:5728] [KO:K01110] CDKN2A [HSA:1029] [KO:K06621] CDKN2B [HSA:1030] [KO:K04685] TRAF7 [HSA:84231] [KO:K10646] AKT1 [HSA:207] [KO:K04456] KLF4 [HSA:9314] [KO:K17846] SMO [HSA:6608] [KO:K06226] MN1 [HSA:4330] [KO:K22543] PDGFB [HSA:5155] [KO:K17386]
H01691	Renal angiomyolipoma	... proteins interact with each other to form heterodimers, whose most important role is inhibition of the mTOR pathway. Loss of inhibition of mTORC1 leads to increased activation of this pathway and the formation ...	Neoplasm		(TSC1) TSC1 [HSA:7248] [KO:K07206] (TSC2) TSC2 [HSA:7249] [KO:K07207]
H01692	Subependymal giant cell astrocytoma	... TSC2 genes. These mutations lead to constitutive upregulation of the mammalian target of rapamycin (mTOR) pathway, which affects many cellular processes involved in tumor growth. Clinical studies have ...	Nervous system disease		(TSC1) TSC1 [HSA:7248] [KO:K07206] (TSC2) TSC2 [HSA:7249] [KO:K07207]
H01885	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome MPPH syndrome	... Polydactyly in MPPH seems to be a variable feature presenting with varied severity in both upper and lower limbs. MCAP and MPPH have been shown to result from gain-of-function mutations in the mTOR-pathway.	Congenital malformation		(MPPH1) PIK3R2 [HSA:5296] [KO:K02649] (MPPH2) AKT3 [HSA:10000] [KO:K04456] (MPPH3) CCND2 [HSA:894] [KO:K10151]
H01928	Smith-Kingsmore syndrome Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	... disorder-small thorax syndrome (MINDS syndrome), is a rare autosomal dominant disorder. Heterozygous mutations in MTOR gene have been shown to underlie SKS. The most consistent findings in SKS are intellectual disability ...	Congenital malformation		MTOR [HSA:2475] [KO:K07203]
H02214	Familial focal epilepsy with variable foci	... cortical regions, including the temporal, frontal, parietal, and occipital lobes. Recently, it has been identified that mutations in the mTOR pathway regulators, DEPDC5, NPRL2 and NPRL3 cause this disease.	Nervous system disease		(FFEVF1) DEPDC5 [HSA:9681] [KO:K20404] (FFEVF2) NPRL2 [HSA:10641] [KO:K20405] (FFEVF3) NPRL3 [HSA:8131] [KO:K20406] (FFEVF4) SCN3A [HSA:6328] [KO:K04836]
H02298	Macrocephaly, dysmorphic facies, and psychomotor retardation	... individuals with MDFPMR have been reported. HERC1 is believed to be involved in intracellular membrane trafficking and ubiquitinization. It is also presumed to play a regulatory role in the mTOR pathway.	Congenital malformation		HERC1 [HSA:8925] [KO:K10594]
H02446	Autosomal recessive macrocephaly/megalencephaly syndrome	... intellectual disability, macro crania, and megalencephaly. Mutations in TBC1D7 were reported in patients. TBC1D7 forms a complex with TSC1 and TSC2 that inhibits mTORC1 signaling and limits cell growth.	Congenital malformation		TBC1D7 [HSA:51256] [KO:K20396]
H02647	Macrodactyly	... consisting of enlargement of all tissues localized to the terminal portions of a limb. Macrodactyly is attributed to a somatic mutation in PIK3CA, a component of the mTOR pathway-related overgrowth disorders.	Congenital malformation		PIK3CA [HSA:5290] [KO:K00922]
H02697	Long-Olsen-Distelmaier syndrome	... abnormalities. It has been reported that gain-of-function mutations in RRAGC cause this disease. RRAGC encodes a Rag protein that is part of a unique family of small GTPases known to regulate mTORC1 signaling.	Congenital malformation		RRAGC [HSA:64121] [KO:K16186]

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