MTOR SIGNALING PATHWAY (PW:0000180)
Description
The mTOR signaling pathway responds to and integrates a range of environmental cues and is known for its role in the control of protein translation and ribosome biogenesis, autophagy, cytoskeleton, and metabolism. The highly conserved Ser/Thr mTOR kinase is found in two distinct complexes: the rapamycin-sensitive mTORC1 and the largely rapamycin-insensitive mTORC2. Rapamycin (sirolimus) - a macrolide produced by Streptomyces hygroscopicus , in complex with Fkbp1a (the 12-kDa FK506-binding protein) binds to and inhibits mTOR when the kinase is part of the mTORC1 complex. Sensitivity to rapamycin rendered mTORC1 an easier target to study and today, this is the best-characterized system. In addition to mTOR, the two complexes share several other components: Mlst8 (known as GbetaL) and the Tti1/Tel2 complex, both playing a role in complex assembly and stability, and the inhibitory Deptor protein. Raptor and Rictor are the mTOR-specific scaffold proteins of mTORC1 and mTORC2, respectively. mTORC1 also contains the inhibitory Akt1s1, (known as PRAS40). Mapkap1 (known as mSin1) and Prr5 and Prr5l (known as Protor1 and 2) are part of the mTORC2 complex. The upstream regulation, responses and outcomes mediated by the two complexes are described in more detail.
mTORC1 complex, hormones and growth factors responses
The mTORC1 system responds to and integrates many cues that include energy status, oxygen, stress, growth factors and amino acids. mTORC1 signaling positively controls ribosome biogenesis and protein translation, and negatively, autophagy. The activity of mTORC1 is promoted by the GTP-bound small G protein Rheb. Under unstimulated conditions Rheb is inhibited by the TSC complex which has inhibitory GAP activity towards it; the function is dependent on the Tsc2 component. While usually depicted as a trimer composed of Tsc1, Tsc2 (both shown separately) and Tbc1d7, evidence indicates that this complex is present as a large oligomeric structure with multiple copies of each subunit. Insulin and growth factors activate PI3K-Akt and the Raf/Mek/Erk intracellular signaling pathways, resulting in inhibition of Tsc2 and activation of mTorc1. Akt can also activate mTOR downstream of Tsc2 by relieving the inhibition by Akt1s1 (known as Pras40). Interestingly, Akt is among the substrates of mTORC2. Eif4bp1 and Rps6k1, targets and effectors of mTORC1, lead to activation of translation initiation and ribosome biogenesis. mTORC1 signaling can negatively impact on insulin signaling and its downstream-activated events; a regulatory feedback loop is provided by the Rps6k1 effector which phosphorylates insulin receptor substrate 1. Phosphorylation of Ulk1 by mTORC1 leads to inhibition of autophagy. mTORC1 can stimulate the activity of Nfe2l2 (known as Nrf2) transcription factor by phosphorylating Sqstm1. When modified, Sqstm1 becomes a potent inhibitor of Keap1 protein, a redox sensor that under basal conditions targets Nfe2l2 for ubiquitination and proteasomal degradation. Nfe2l2 signaling is one of the most important regulators of antioxidant and electrophilic stress responses. mTORC1 is negatively regulated by a low energy status of the cell and positively regulated by amino acid availability, consistent with its role in protein biosynthesis and metabolism. The energy 'sensor' Amp-activated protein kinase (AMPK) of the Lkb1-AMPK axis inhibits energy-consuming pathways while promoting ATP-generating ones. AMPK phosphorylates and activates Tsc2; downstream of Tsc2 it can inhibit mTORC1 by phosphorylating Raptor.
mTORC1 complex, amino acid responses
Amino acid availability stimulates mTORC1 and is dependent on the Rrag (known as Rag) proteins: RragA, B, C and D. The Rag proteins constitute a family of related small GTPases that function as obligate heterodimers. GTP-bound RragA or B complexed with GDP-bound RragC or D, are the heterodimers that stimulate mTORC1 activity. As such, they bind the Raptor component of mTORC1, prompting the translocation of the complex to lysosomal surfaces. There, Rags dock onto a multisubunit complex known as the 'Ragulator', essential for the activation of mTORC1 by amino acids. The lysosome is the final destination of many catabolic events and a major recycling center. The lysosomal localization allows mTORC1 to respond to amino acid availability; several amino acid lysosomal protein transporters may act as 'sensors' (not shown). The 'Ragulator' is composed of five Lamtor protein subunits of which Lamtor1 acts as a scaffold for two heterodimers of Lamtor2/3 and Lamtor4/5. The complex can act as a guanine exchange factor (GEF) for RragA and B. Inhibitory GAP activity for RragA and B is provided by the Gator1 complex while regulatory GAP activity towards RragC and D is provided by folliculin (Flcn) in complex with its Fnip partners. Gator1 inhibition is relieved by the Gator2 complex. How Gator2 functions remains to be elucidated; however, it is known that the function is modulated by amino acid availability. In the absence of amino acids, Gator2 is inhibited by Gatsl3/2 (Castor1/2) and by sestrin2 proteins. The interaction of these proteins with Gator2 is inhibited when leucine binds sestrin2 or arginine binds Castor1. Castor1 functions as a homodimer or a heterodimer with Castor2, which by itself does not bind arginine. On the lysosomal surface, mTORC1 is activated by a GTP-loaded Rheb. Insulin, and likely growth factors, prompt the departure of inhibitory TSC from the lysosome, where it can be found in their absence.
mTORC2 complex
Growth factors activate mTorc2 by mechanisms that are incompletely understood. mTORC2 promotes PI3k-Akt signaling via Akt phosphorylation. Full activity of Akt members requires two phosphorylation events; the second phosphorylation is provided by mTORC2. mTORC2 regulates several members of the protein kinase C family and recently it has been shown that it negatively regulates a component of the Hippo signaling pathway (not shown). The mTORC2 arm of the pathway plays a role in cytoskeletal rearrangements and like mTORC1, can modulate cell growth.
The detailed picture of mTOR signaling is still incomplete but research increasingly points to its central role in the modulation of cell growth and metabolism. mTOR can be deregulated at many levels and its alteration, including deregulation of its cross talk with the PI3K-Akt system, has been implicated in numerous conditions. To see the ontology report for annotations, GViewer and download, click here. ...(less)
Pathway Diagram:
Genes in Pathway:
G
Akt1
AKT serine/threonine kinase 1
ISO IEA
PID KEGG
PID:200096 rno:04150
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
G
Akt1s1
AKT1 substrate 1
ISO
PID RGD
PMID:19339977 PMID:22500797
PID:200096, RGD:2308795 , RGD:11535033
NCBI chr 1:95,333,186...95,339,678
Ensembl chr 1:95,332,898...95,339,677
G
Akt2
AKT serine/threonine kinase 2
IEA
KEGG
rno:04150
NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
G
Akt3
AKT serine/threonine kinase 3
IEA
KEGG
rno:04150
NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
G
Atg13
autophagy related 13
ISO
PID
PID:200096
NCBI chr 3:77,647,069...77,681,028
Ensembl chr 3:77,645,790...77,681,043
G
Bnip3
BCL2 interacting protein 3
ISO
PID
PID:200096
NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
G
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO IEA
PID KEGG
PID:200096 rno:04150
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
G
Cab39
calcium binding protein 39
IEA
KEGG
rno:04150
NCBI chr 9:86,463,095...86,524,545
Ensembl chr 9:86,463,095...86,524,544
G
Cab39l
calcium binding protein 39-like
IEA
KEGG
rno:04150
NCBI chr15:33,606,588...33,710,518
Ensembl chr15:33,606,694...33,743,545
G
Castor1
cytosolic arginine sensor for mTORC1 subunit 1
ISO
RGD
PMID:27015302
RGD:11535047
NCBI chr14:79,086,136...79,090,549
Ensembl chr14:79,086,136...79,090,548
G
Castor2
cytosolic arginine sensor for mTORC1 subunit 2
ISO
RGD
PMID:27015302
RGD:11535047
NCBI chr12:22,577,504...22,620,182
Ensembl chr12:22,577,512...22,620,182
G
Ccne1
cyclin E1
ISO
PID
PID:200096
NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101
G
Cdk2
cyclin dependent kinase 2
ISO
PID
PID:200096
NCBI chr 7:1,129,878...1,137,431
Ensembl chr 7:1,129,811...1,137,403
G
Clip1
CAP-GLY domain containing linker protein 1
ISO
PID
PID:200096
NCBI chr12:32,910,932...33,017,891
Ensembl chr12:32,910,977...33,017,884
G
Cycs
cytochrome c, somatic
ISO
PID
PID:200096
NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054 Ensembl chr18:79,651,378...79,654,054
G
Ddit4
DNA-damage-inducible transcript 4
ISO IEA
PID KEGG
PID:200096 rno:04150
NCBI chr20:27,891,989...27,894,088
Ensembl chr20:27,891,998...27,894,105
G
Depdc5
DEP domain containing 5, GATOR1 subcomplex subunit
ISO
RGD
PMID:24698685
RGD:11535043
NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794
G
Deptor
DEP domain containing MTOR-interacting protein
ISO
PID RGD
PMID:22500797
PID:200096, RGD:11535033
NCBI chr 7:86,514,859...86,668,817
Ensembl chr 7:86,514,988...86,667,773
G
Eef2
eukaryotic translation elongation factor 2
ISO
PID
PID:200096
NCBI chr 7:8,533,248...8,538,518
Ensembl chr 7:8,533,116...8,559,183
G
Eef2k
eukaryotic elongation factor-2 kinase
ISO
PID
PID:200096
NCBI chr 1:175,393,119...175,456,756
Ensembl chr 1:175,393,154...175,455,164
G
Eif4a1
eukaryotic translation initiation factor 4A1
ISO
PID
PID:200096
NCBI chr10:54,384,345...54,389,855
Ensembl chr10:54,384,347...54,389,858
G
Eif4b
eukaryotic translation initiation factor 4B
ISO IEA
PID KEGG
PID:200096 rno:04150
NCBI chr 7:133,206,637...133,228,436
G
Eif4e
eukaryotic translation initiation factor 4E
ISO IEA
PID KEGG
PID:200096 rno:04150
NCBI chr 2:227,066,519...227,099,261
Ensembl chr 2:227,066,673...227,098,683
G
Eif4e2
eukaryotic translation initiation factor 4E family member 2
IEA
KEGG
rno:04150
NCBI chr 9:87,886,126...87,914,470
Ensembl chr 9:87,878,085...87,914,482
G
Eif4ebp1
eukaryotic translation initiation factor 4E binding protein 1
ISO IEA
PID KEGG RGD
PMID:16885148 PMID:19339977
PID:200096 rno:04150, RGD:1625616 , RGD:2308795
NCBI chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984
G
Fbxw11
F-box and WD repeat domain containing 11
ISO
PID
PID:200096
NCBI chr10:17,232,735...17,330,574
Ensembl chr10:17,227,181...17,330,571
G
Fkbp1a
FKBP prolyl isomerase 1A
ISO
RGD
PMID:22500797
RGD:11535033
NCBI chr 3:140,040,359...140,060,107
Ensembl chr 3:140,040,278...140,060,743
G
Flcn
folliculin
ISO
RGD
PMID:27076075
RGD:11535042
NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769
G
Fnip1
folliculin interacting protein 1
ISO
RGD
PMID:27076075
RGD:11535042
NCBI chr10:38,567,728...38,650,824
Ensembl chr10:38,567,729...38,650,824
G
Fnip2
folliculin interacting protein 2
ISO
RGD
PMID:27076075
RGD:11535042
NCBI chr 2:164,596,557...164,708,147
Ensembl chr 2:164,598,906...164,707,901
G
Hif1a
hypoxia inducible factor 1 subunit alpha
IEA
KEGG
rno:04150
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
G
Hras
HRas proto-oncogene, GTPase
ISO
PID
PID:200096
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
G
Igf1
insulin-like growth factor 1
IEA
KEGG
rno:04150
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
G
Ikbkb
inhibitor of nuclear factor kappa B kinase subunit beta
ISO
PID
PID:200096
NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
G
Ins1
insulin 1
IEA
KEGG
rno:04150
NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
G
Ins2
insulin 2
IEA
KEGG
rno:04150
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
G
Irs1
insulin receptor substrate 1
ISO
PID
PID:200096
NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
G
Lamtor1
late endosomal/lysosomal adaptor, MAPK and MTOR activator 1
ISO
RGD
PMID:24698685
RGD:11535043
NCBI chr 1:156,272,116...156,277,687
Ensembl chr 1:156,272,064...156,291,179
G
Lamtor2
late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
ISO
RGD
PMID:24698685
RGD:11535043
NCBI chr 2:174,008,556...174,011,950
Ensembl chr 2:174,008,548...174,013,013
G
Lamtor3
late endosomal/lysosomal adaptor, MAPK and MTOR activator 3
ISO
RGD
PMID:24698685
RGD:11535043
NCBI chr 2:226,411,389...226,423,612
Ensembl chr 2:226,411,400...226,423,607
G
Lamtor4
late endosomal/lysosomal adaptor, MAPK and MTOR activator 4
ISO
RGD
PMID:24698685
RGD:11535043
NCBI chr12:17,258,656...17,262,478
Ensembl chr12:17,258,623...17,262,480
G
Lamtor5
late endosomal/lysosomal adaptor, MAPK and MTOR activator 5
ISO
RGD
PMID:24698685
RGD:11535043
NCBI chr 2:194,900,038...194,905,394
Ensembl chr 2:194,900,038...194,905,395
G
Lpin1
lipin 1
IMP
RGD
PMID:11792863
RGD:1641823
NCBI chr 6:39,309,198...39,417,034
Ensembl chr 6:39,312,748...39,417,097
G
Map2k1
mitogen activated protein kinase kinase 1
ISO
PID
PID:200096
NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
G
Map2k2
mitogen activated protein kinase kinase 2
ISO
PID
PID:200096
NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
G
Mapk1
mitogen activated protein kinase 1
ISO IEA
PID KEGG
PID:200096 rno:04150
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
G
Mapk3
mitogen activated protein kinase 3
ISO IEA
PID KEGG
PID:200096 rno:04150
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
G
Mapkap1
MAPK associated protein 1
ISO
PID RGD
PMID:19339977 PMID:22500797
PID:200096, RGD:2308795 , RGD:11535033
NCBI chr 3:17,715,813...17,918,387
Ensembl chr 3:17,715,834...17,918,384
G
Mios
meiosis regulator for oocyte development
ISO
RGD
PMID:24698685
RGD:11535043
NCBI chr 4:36,263,419...36,289,546
Ensembl chr 4:36,263,968...36,289,544
G
Mlst8
MTOR associated protein, LST8 homolog
ISO IEA
PID KEGG RGD
PMID:12718876 PMID:19339977 PMID:22500797
PID:200096 rno:04150, RGD:1626104 , RGD:2308795 , RGD:11535033
NCBI chr10:13,498,377...13,504,128
Ensembl chr10:13,498,388...13,504,128
G
Mtor
mechanistic target of rapamycin kinase
IDA IMP ISO IEA
PID KEGG RGD
PMID:17142137 PMID:17142137 PMID:16885148 PMID:17110594 PMID:19339977 PMID:22500797 More...
PID:200096 rno:04150, RGD:1625611 , RGD:1625611 , RGD:1625616 , RGD:2307383 , RGD:2308795 , RGD:11535033
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
G
Nprl2
NPR2-like, GATOR1 complex subunit
ISO
RGD
PMID:24698685
RGD:11535043
NCBI chr 8:108,215,823...108,218,996
Ensembl chr 8:108,215,814...108,218,996
G
Nprl3
NPR3-like, GATOR1 complex subunit
ISO
RGD
PMID:24698685
RGD:11535043
NCBI chr10:15,355,361...15,395,812
Ensembl chr10:15,355,355...15,395,810
G
Nras
NRAS proto-oncogene, GTPase
ISO
PID
PID:200096
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
G
Pdcd4
programmed cell death 4
ISO
PID
PID:200096
NCBI chr 1:252,921,342...252,944,278
Ensembl chr 1:252,921,392...252,944,275
G
Pdpk1
3-phosphoinositide dependent protein kinase-1
ISO IEA
PID KEGG
PID:200096 rno:04150
NCBI chr10:13,105,435...13,182,664
Ensembl chr10:13,105,498...13,174,623
G
Pgf
placental growth factor
IEA
KEGG
rno:04150
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
G
Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
IEA
KEGG
rno:04150
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
G
Pik3cb
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
IEA
KEGG
rno:04150
NCBI chr 8:99,594,600...99,699,772
Ensembl chr 8:99,594,644...99,699,663
G
Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
IEA
KEGG
rno:04150
NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
G
Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
IEA
KEGG
rno:04150
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
G
Pik3r2
phosphoinositide-3-kinase regulatory subunit 2
IEA
KEGG
rno:04150
NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065
G
Pik3r3
phosphoinositide-3-kinase regulatory subunit 3
IEA
KEGG
rno:04150
NCBI chr 5:129,700,925...129,772,591
Ensembl chr 5:129,701,229...129,772,583
G
Pik3r5
phosphoinositide-3-kinase, regulatory subunit 5
IEA
KEGG
rno:04150
NCBI chr10:53,132,585...53,200,663
Ensembl chr10:53,132,603...53,199,374
G
Pld1
phospholipase D1
ISO
PID
PID:200096
NCBI chr 2:110,849,205...111,047,304
Ensembl chr 2:110,893,608...111,047,692
G
Pld2
phospholipase D2
ISO
PID
PID:200096
NCBI chr10:55,256,326...55,274,192
Ensembl chr10:55,256,359...55,272,808
G
Pml
PML nuclear body scaffold
ISO
PID
PID:200096
NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971
G
Poldip3
DNA polymerase delta interacting protein 3
ISO
PID
PID:200096
NCBI chr 7:114,274,845...114,303,278
Ensembl chr 7:114,275,085...114,303,271
G
Ppargc1a
PPARG coactivator 1 alpha
ISO
PID
PID:200096
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
G
Prkaa1
protein kinase AMP-activated catalytic subunit alpha 1
IEA
KEGG
rno:04150
NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978
G
Prkaa2
protein kinase AMP-activated catalytic subunit alpha 2
IEA
KEGG
rno:04150
NCBI chr 5:119,807,992...119,879,987
Ensembl chr 5:119,813,226...119,879,543
G
Prkca
protein kinase C, alpha
ISO
PID
PID:200096
NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
G
Prr5
proline rich 5
ISO
PID RGD
PMID:22500797
PID:200096, RGD:11535033
NCBI chr 7:115,795,351...115,837,880
Ensembl chr 7:115,813,954...115,834,834
G
Prr5l
proline rich 5 like
ISO
RGD
PMID:22500797
RGD:11535033
NCBI chr 3:88,001,951...88,173,532
Ensembl chr 3:88,003,617...88,082,763
G
Pxn
paxillin
ISO
PID
PID:200096
NCBI chr12:41,060,791...41,107,952
Ensembl chr12:41,060,791...41,107,931
G
Rac1
Rac family small GTPase 1
ISO
PID
PID:200096
NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251
G
Raf1
Raf-1 proto-oncogene, serine/threonine kinase
ISO
PID
PID:200096
NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317
G
Rb1cc1
RB1-inducible coiled-coil 1
ISO
PID
PID:200096
NCBI chr 5:13,161,648...13,225,560
Ensembl chr 5:13,161,648...13,225,560
G
Rheb
Ras homolog, mTORC1 binding
IDA ISO IEA
PID KEGG RGD
PMID:16354680 PMID:16885148 PMID:19339977 PMID:26159692
PID:200096 rno:04150, RGD:1625606 , RGD:1625616 , RGD:2308795 , RGD:11535034
NCBI chr 4:10,278,970...10,320,160
Ensembl chr 4:10,279,370...10,320,160
G
Rhoa
ras homolog family member A
ISO
PID
PID:200096
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
G
Rictor
RPTOR independent companion of MTOR, complex 2
ISO IMP IEA
PID KEGG RGD
PMID:16885148 PMID:17110594 PMID:19339977 PMID:22500797
PID:200096 rno:04150, RGD:1625616 , RGD:2307383 , RGD:2308795 , RGD:11535033
NCBI chr 2:55,811,877...55,903,893
Ensembl chr 2:55,811,322...55,901,426
G
Rps6
ribosomal protein S6
IEA
KEGG
rno:04150
NCBI chr 5:101,371,716...101,374,576
Ensembl chr 5:101,371,136...101,374,602 Ensembl chr 5:101,371,136...101,374,602
G
Rps6ka1
ribosomal protein S6 kinase A1
ISO IEA
PID KEGG
PID:200096 rno:04150
NCBI chr 5:146,079,018...146,118,272
Ensembl chr 5:146,079,021...146,118,272
G
Rps6ka2
ribosomal protein S6 kinase A2
IEA
KEGG
rno:04150
NCBI chr 1:52,631,582...52,906,739
Ensembl chr 1:52,631,736...52,906,739
G
Rps6ka3
ribosomal protein S6 kinase A3
IEA
KEGG
rno:04150
NCBI chr X:35,517,306...35,623,296
Ensembl chr X:35,517,306...35,623,207
G
Rps6ka6
ribosomal protein S6 kinase A6
IEA
KEGG
rno:04150
NCBI chr X:76,353,316...76,454,502
Ensembl chr X:76,353,760...76,454,484
G
Rps6kb1
ribosomal protein S6 kinase B1
ISO IMP IEA
PID KEGG RGD
PMID:16885148 PMID:11574531 PMID:19339977
PID:200096 rno:04150, RGD:1625616 , RGD:1626103 , RGD:2308795
NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
G
Rps6kb2
ribosomal protein S6 kinase B2
ISO IMP IEA
KEGG RGD
PMID:16885148 PMID:11574531 PMID:19339977
rno:04150, RGD:1625616 , RGD:1626103 , RGD:2308795
NCBI chr 1:201,451,265...201,458,096
Ensembl chr 1:201,451,265...201,458,078
G
Rptor
regulatory associated protein of MTOR, complex 1
ISO IMP IEA
PID KEGG RGD
PMID:16885148 PMID:17110594 PMID:19339977 PMID:22500797
PID:200096 rno:04150, RGD:1625616 , RGD:2307383 , RGD:2308795 , RGD:11535033
NCBI chr10:104,878,487...105,176,986
Ensembl chr10:104,878,487...105,176,983
G
Rraga
Ras-related GTP binding A
ISO
PID RGD
PMID:19339977 PMID:24698685
PID:200096, RGD:2308795 , RGD:11535043
NCBI chr 5:101,113,341...101,114,936
Ensembl chr 5:101,112,859...101,114,510
G
RragB
Ras-related GTP binding B
ISO
PID RGD
PMID:19339977 PMID:24698685
PID:200096, RGD:2308795 , RGD:11535043
NCBI chr X:18,184,619...18,234,639
Ensembl chr X:18,184,992...18,234,639
G
Rragb_v1
Ras-related GTP binding B, variant 1
ISO
RGD
PMID:19339977
RGD:2308795
G
Rragc
Ras-related GTP binding C
ISO
PID RGD
PMID:19339977 PMID:24698685
PID:200096, RGD:2308795 , RGD:11535043
NCBI chr 5:136,148,239...136,167,773
Ensembl chr 5:136,148,276...136,167,767
G
Rragd
Ras-related GTP binding D
ISO
PID RGD
PMID:19339977 PMID:24698685
PID:200096, RGD:2308795 , RGD:11535043
NCBI chr 5:47,373,902...47,409,369
Ensembl chr 5:47,373,463...47,409,356
G
Rrn3
RRN3 homolog, RNA polymerase I transcription factor
ISO
PID
PID:200096
NCBI chr10:2,129,949...2,165,381
Ensembl chr10:2,129,978...2,165,663
G
Sesn2
sestrin 2
ISO
RGD
PMID:27076075
RGD:11535042
NCBI chr 5:144,702,287...144,721,241
Ensembl chr 5:144,701,530...144,721,260
G
Sfn
stratifin
ISO
PID
PID:200096
NCBI chr 5:145,826,722...145,827,994
Ensembl chr 5:145,826,201...145,831,314
G
Sgk1
serum/glucocorticoid regulated kinase 1
ISO
PID
PID:200096
NCBI chr 1:22,980,257...23,098,122
Ensembl chr 1:22,980,261...23,098,283
G
Slc7a5
solute carrier family 7 member 5
IMP
RGD
PMID:25049270
RGD:151361107
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
G
Srebf1
sterol regulatory element binding transcription factor 1
ISO
PID
PID:200096
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
G
Sspo
SCO-spondin
ISO
PID
PID:200096
NCBI chr 4:77,394,915...77,450,526
Ensembl chr 4:77,397,059...77,450,412
G
Stk11
serine/threonine kinase 11
IEA
KEGG
rno:04150
NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
G
Strada
STE20 related adaptor alpha
IEA
KEGG
rno:04150
NCBI chr10:91,094,849...91,123,890
Ensembl chr10:91,094,687...91,123,830
G
Tbc1d7
TBC1 domain family, member 7
ISO
RGD
PMID:26159692
RGD:11535034
NCBI chr17:21,530,709...21,548,556
Ensembl chr17:21,531,016...21,548,553
G
Telo2
telomere maintenance 2
ISO
RGD
PMID:22500797
RGD:11535033
NCBI chr10:14,120,491...14,135,729
Ensembl chr10:14,120,818...14,135,698
G
Tsc1
TSC complex subunit 1
ISO IEA
PID KEGG RGD
PMID:16885148 PMID:19339977 PMID:26159692
PID:200096 rno:04150, RGD:1625616 , RGD:2308795 , RGD:11535034
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
G
Tsc2
TSC complex subunit 2
IDA ISO IEA
PID KEGG RGD
PMID:12869586 PMID:16885148 PMID:19339977 PMID:26159692
PID:200096 rno:04150, RGD:1580520 , RGD:1625616 , RGD:2308795 , RGD:11535034
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
G
Tsc2_v1
TSC complex subunit 2, variant 1
ISO
RGD
PMID:16885148
RGD:1625616
G
Tsc2_v2
TSC complex subunit 2, variant 2
ISO
RGD
PMID:16885148
RGD:1625616
G
Tti1
TELO2 interacting protein 1
ISO
RGD
PMID:22500797
RGD:11535033
NCBI chr 3:146,639,048...146,682,945
Ensembl chr 3:146,639,054...146,682,847
G
Ulk1
unc-51 like autophagy activating kinase 1
ISO IEA
PID KEGG
PID:200096 rno:04150
NCBI chr12:45,851,710...45,877,966
Ensembl chr12:45,851,710...45,877,966
G
Ulk2
unc-51 like autophagy activating kinase 2
ISO IEA
PID KEGG
PID:200096 rno:04150
NCBI chr10:46,451,578...46,530,462
Ensembl chr10:46,454,030...46,530,407
G
Ulk3
unc-51 like kinase 3
IEA
KEGG
rno:04150
NCBI chr 8:57,992,396...58,000,220
Ensembl chr 8:57,992,723...57,999,467
G
Vegfa
vascular endothelial growth factor A
IEA
KEGG
rno:04150
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Vegfb
vascular endothelial growth factor B
IEA
KEGG
rno:04150
NCBI chr 1:204,172,297...204,178,046
Ensembl chr 1:204,172,225...204,177,944
G
Vegfc
vascular endothelial growth factor C
IEA
KEGG
rno:04150
NCBI chr16:37,712,251...37,827,845
Ensembl chr16:37,712,262...37,827,848
G
Vegfd
vascular endothelial growth factor D
IEA
KEGG
rno:04150
NCBI chr X:30,073,122...30,108,413
Ensembl chr X:30,074,163...30,108,295
G
Wdr24
WD repeat domain 24
ISO
RGD
PMID:24698685
RGD:11535043
NCBI chr10:14,844,089...14,848,871
Ensembl chr10:14,843,728...14,848,864
G
Wdr59
WD repeat domain 59
ISO
RGD
PMID:24698685
RGD:11535043
NCBI chr19:39,416,432...39,483,773
Ensembl chr19:39,416,429...39,483,698
G
Ywhab
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta
ISO
PID
PID:200096
NCBI chr 3:152,659,663...152,682,105
Ensembl chr 3:152,659,651...152,682,105
G
Ywhae
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ISO
PID
PID:200096
NCBI chr10:60,584,665...60,622,352
Ensembl chr10:60,584,652...60,671,589
G
Ywhag
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma
ISO
PID
PID:200096
NCBI chr12:20,744,500...20,772,828
Ensembl chr12:20,744,535...20,772,827
G
Ywhah
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta
ISO
PID
PID:200096
NCBI chr14:77,696,332...77,705,715
Ensembl chr14:77,696,333...77,705,741
G
Ywhaq
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta
ISO
PID
PID:200096
NCBI chr 6:40,935,714...40,966,240
Ensembl chr 6:40,935,949...40,966,273
G
Ywhaz
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta
ISO
PID
PID:200096
NCBI chr 7:67,941,353...67,963,651
Ensembl chr 7:67,940,017...67,963,668
G
Yy1
YY1 transcription factor
ISO
PID
PID:200096
NCBI chr 6:127,706,739...127,736,499
Ensembl chr 6:127,707,596...127,732,747
Pathway Gene Annotations
Disease Annotations Associated with Genes in the mTOR signaling pathway
Akt1 Acute Lung Injury , acute promyelocytic leukemia , adenocarcinoma , alcoholic hepatitis , Alcoholic Liver Diseases , Alzheimer's disease , amphetamine abuse , amyotrophic lateral sclerosis , Animal Disease Models , atherosclerosis , autosomal recessive polycystic kidney disease , bipolar disorder , bone osteosarcoma , Brain Injuries , brain ischemia , breast adenocarcinoma , breast cancer , Breast Cancer, Familial , Breast Neoplasms , Calcification of Aortic Valve , cannabis abuse , Carcinogenesis , cardiac arrest , Cardiomegaly , cardiomyopathy , Charcot-Marie-Tooth disease axonal type 2O , chronic myeloid leukemia , colon cancer , colon carcinoma , colorectal cancer , Colorectal Neoplasms , coronary artery disease , Cowden syndrome 6 , Diabetic Cardiomyopathies , diabetic retinopathy , Endometrioid Carcinomas , Endotoxemia , epilepsy , esophageal cancer , esophageal carcinoma , esophagus squamous cell carcinoma , Experimental Arthritis , Experimental Colitis , Experimental Diabetes Mellitus , Experimental Liver Cirrhosis , Experimental Mammary Neoplasms , familial adenomatous polyposis , Fibrosis , focal segmental glomerulosclerosis 5 , gastric adenocarcinoma , genetic disease , glioblastoma , head and neck squamous cell carcinoma , hepatocellular carcinoma , Hepatomegaly , Hereditary Neoplastic Syndromes , heroin dependence , Herpes Simplex Encephalitis 3 , Hyperplasia , hypertension , Hypertriglyceridemia , idiopathic pulmonary fibrosis , impotence , in situ carcinoma , Inflammation , intermediate coronary syndrome , Intervertebral Disc Displacement , invasive ductal carcinoma , Kidney Neoplasms , lung adenocarcinoma , Lung Neoplasms , lung non-small cell carcinoma , lung oat cell carcinoma , lung small cell carcinoma , lung squamous cell carcinoma , Macrocephaly Mesodermal Hamartoma Spectrum , malignant astrocytoma , melanoma , Memory Disorders , Meningeal Neoplasms , meningioma , metabolic dysfunction and alcohol associated liver disease , metabolic dysfunction-associated steatohepatitis , metabolic dysfunction-associated steatotic liver disease , muscular atrophy , myocardial infarction , Myocardial Reperfusion Injury , Neointima , obesity , opiate dependence , osteosarcoma , ovarian cancer , Ovarian Neoplasms , Pain , pancreatic cancer , pancreatic intraductal papillary-mucinous neoplasm , paraplegia , Parkinson's disease , pre-malignant neoplasm , prostate adenocarcinoma , prostate cancer , Prostatic Neoplasms , Proteus syndrome , pulmonary tuberculosis , renal cell carcinoma , Reperfusion Injury , Right Ventricular Hypertrophy , schizophrenia , skin melanoma , Skin Neoplasms , Spinal Cord Injuries , squamous cell carcinoma , Staphylococcal Pneumonia , steatotic liver disease , Stroke , substance-induced psychosis , T-cell non-Hodgkin lymphoma , Thyroid Neoplasms , transitional cell carcinoma , type 2 diabetes mellitus , ureteral obstruction , urinary bladder cancer , Uterine Cervical Neoplasms , Ventilator-Induced Lung Injury , Ventricular Remodeling , vulva cancer Akt1s1 developmental and epileptic encephalopathy 12 , Reperfusion Injury , Spinal Cord Injuries Akt2 adenocarcinoma , Breast Neoplasms , Carpenter Syndrome 2 , colorectal cancer , Colorectal Neoplasms , congenital hypoplastic anemia , craniosynostosis , Diamond-Blackfan anemia , endometrial cancer , Experimental Mammary Neoplasms , familial partial lipodystrophy , genetic disease , hepatocellular carcinoma , high grade glioma , hypertension , hypoglycemia , hypoinsulinemic hypoglycemia with hemihypertrophy , Insulin Resistance , ischemia , lung non-small cell carcinoma , malignant astrocytoma , maple syrup urine disease , maturity-onset diabetes of the young type 1 , Myocardial Reperfusion Injury , Neonatal Hypoglycemia, Simulating Foetopathia Diabetica , Neoplasm Metastasis , obesity , ovarian carcinoma , Ovarian Neoplasms , pancreatic cancer , polycystic ovary syndrome , prostate adenocarcinoma , prostate cancer , prostate carcinoma , Prostatic Neoplasms , Thyroid Neoplasms , type 2 diabetes mellitus Akt3 Bardet-Biedl syndrome , Bardet-Biedl syndrome 16 , capillary hemangioma , colon cancer , complex cortical dysplasia with other brain malformations , COVID-19 , developmental and epileptic encephalopathy 54 , Developmental Disabilities , gastrointestinal stromal tumor , genetic disease , glioblastoma , lung non-small cell carcinoma , Macrocephaly , malignant astrocytoma , megacolon , Megalencephaly - Cutis Marmorata Telangiectatica Congenita , Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome , Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 , Neurodevelopmental Disorders , pancreatic adenocarcinoma , parathyroid carcinoma , polymicrogyria , prostate adenocarcinoma , prostate cancer , renal cell carcinoma , Senior-Loken syndrome , Senior-Loken Syndrome 7 Atg13 congenital disorder of glycosylation type IIc , intellectual disability , Liver Reperfusion Injury , prostate cancer Bnip3 Chronic Intermittent Hypoxia , chronic obstructive pulmonary disease , congestive heart failure , distal 10q deletion syndrome , ductal carcinoma in situ , end stage renal disease , Hemorrhage , Hyperoxia , Kidney Reperfusion Injury , Manganese Poisoning , middle cerebral artery infarction , multiple myeloma , myocardial infarction , Myocardial Reperfusion Injury , obesity , perinatal necrotizing enterocolitis , Prostatic Neoplasms , retinal detachment , Spinal Cord Injuries , Stomach Neoplasms , Subarachnoid Hemorrhage , transient cerebral ischemia Braf adrenocortical carcinoma , ameloblastoma , Aortic Aneurysm, Giant Congenital , arteriovenous malformations of the brain , ataxia telangiectasia , B-Cell Chronic Lymphocytic Leukemia , bile duct adenoma , Brain Neoplasms , Breast Neoplasms , cancer , Carcinogenesis , cardiofaciocutaneous syndrome , cardiofaciocutaneous syndrome 1 , cardiomyopathy , cholangiocarcinoma , chronic lymphocytic leukemia , chronic myelogenous leukemia, BCR-ABL1 positive , chronic myeloid leukemia , colon carcinoma , Colonic Neoplasms , colorectal adenocarcinoma , colorectal cancer , Colorectal Neoplasms , Costello syndrome , craniopharyngioma , Dandy-Walker syndrome , Developmental Disabilities , diffuse large B-cell lymphoma , dilated cardiomyopathy , disease of cellular proliferation , dysembryoplastic neuroepithelial tumor , dysplastic nevus syndrome , endometrial carcinoma , Experimental Melanoma , Experimental Neoplasms , familial melanoma , Follicular Thyroid Cancer , gallbladder cancer , ganglioglioma , gastric adenocarcinoma , gastrointestinal stromal tumor , genetic disease , germinoma , glioblastoma , head and neck squamous cell carcinoma , hepatocellular carcinoma , high grade glioma , hypertrophic cardiomyopathy , hypertrophic cardiomyopathy 4 , intellectual disability , intrahepatic cholangiocarcinoma , Kidney Neoplasms , Langerhans-cell histiocytosis , Liver Metastasis , Liver Neoplasms , lung adenocarcinoma , lung cancer , lung carcinoma , Lung Neoplasms , lung non-small cell carcinoma , lung squamous cell carcinoma , lymphangioma , Lymphatic Metastasis , malignant astrocytoma , Mandibular Neoplasms , melanoma , Microsatellite Instability , multiple myeloma , myoepithelioma , Neoplasm Metastasis , nephroblastoma , neuroendocrine tumor , Nevus , newborn respiratory distress syndrome , non-Hodgkin lymphoma , Nonseminomatous Germ Cell Tumor , Noonan syndrome , Noonan syndrome 1 , Noonan syndrome 7 , Noonan syndrome with multiple lentigines , Noonan syndrome with multiple lentigines 3 , Ovarian Neoplasms , ovarian serous cystadenocarcinoma , pancreatic acinar cell adenocarcinoma , pancreatic cancer , papillary renal cell carcinoma , papillary thyroid carcinoma , Paraproteinemias , PHACE Association , plasma cell neoplasm , pleomorphic xanthoastrocytoma , Premature Birth , primary cutaneous T-cell non-Hodgkin lymphoma , prostate adenocarcinoma , Prostate Cancer, Hereditary, 1 , Prostatic Neoplasms , pulmonary valve stenosis , RASopathy , Sengers syndrome , Sezary's disease , skin melanoma , Sporadic Papillary Renal Cell Carcinoma , tethered spinal cord syndrome , Thyroid Neoplasms , transitional cell carcinoma , type 2 diabetes mellitus , uterine cancer , Vascular Malformations , ventricular septal defect Cab39 hepatocellular carcinoma , hyperthyroidism , Joubert syndrome 22 , Lymphatic Metastasis , Neoplasm Metastasis , pancreatic cancer , Perlman syndrome , transient cerebral ischemia Cab39l chromosome 13q14 deletion syndrome , intellectual disability Castor2 pleomorphic xanthoastrocytoma Ccne1 Bowen's Disease , breast adenocarcinoma , breast cancer , Breast Neoplasms , cervix uteri carcinoma in situ , Colonic Neoplasms , Diabetic Nephropathies , Disease Progression , Endometrioid Carcinomas , Experimental Mammary Neoplasms , Germ Cell and Embryonal Neoplasms , head and neck squamous cell carcinoma , hepatitis , hepatocellular carcinoma , hypertension , liver cancer , lung non-small cell carcinoma , Lymphatic Metastasis , medulloblastoma , Neoplasm Metastasis , ovarian carcinoma , Ovarian Neoplasms , prostate carcinoma in situ , Prostatic Neoplasms , Recurrence , renal cell carcinoma , Reperfusion Injury , Spinal Cord Injuries , urinary bladder cancer , Uterine Cervical Neoplasms Cdk2 breast cancer , Embryo Loss , Endometrial Neoplasms , Endometrioid Carcinomas , Experimental Liver Cirrhosis , Experimental Mammary Neoplasms , Habitual Abortions , head and neck squamous cell carcinoma , interstitial cystitis , Intimal Hyperplasia , melanoma , membranoproliferative glomerulonephritis , Optic Nerve Injuries , Ovarian Neoplasms , prostate cancer , renal cell carcinoma , Triple Negative Breast Neoplasms , Uterine Cervical Neoplasms Clip1 Developmental Disabilities , Dwarfism , intellectual disability , short chain acyl-CoA dehydrogenase deficiency Cycs brain ischemia , Chloracne , cholangiocarcinoma , hemorrhagic disease , Huntington's disease , ischemia , lung non-small cell carcinoma , lung squamous cell carcinoma , Lymphatic Metastasis , methylmalonic acidemia , Neoplasm Micrometastasis , obesity , pancreatic cancer , pleomorphic xanthoastrocytoma , steatotic liver disease , thrombocytopenia , Thrombocytopenia 4 , transient cerebral ischemia Ddit4 COVID-19 , leukemia , mouth disease , Nerve Degeneration , Parkinson's disease , rheumatoid arthritis Depdc5 autosomal dominant nocturnal frontal lobe epilepsy , benign epilepsy with centrotemporal spikes , benign familial infantile seizures 6 , Developmental and Epileptic Encephalopathy 111 , developmental and epileptic encephalopathy 83 , Developmental Disabilities , Developmental Disease , epilepsy , familial focal epilepsy with variable foci , familial focal epilepsy with variable foci 1 , genetic disease , hepatocellular carcinoma , high grade glioma , intellectual disability , muscular dystrophy-dystroglycanopathy type B6 , NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES , sudden infant death syndrome , visual epilepsy Deptor hereditary multiple exostoses , trichorhinophalangeal syndrome type I Eef2 adenocarcinoma , Alzheimer's disease , amenorrhea , brain glioblastoma multiforme , Breast Neoplasms , colon adenocarcinoma , colorectal cancer , COVID-19 , Experimental Diabetes Mellitus , glaucoma , hepatocellular carcinoma , lung adenocarcinoma , Lung Neoplasms , lung non-small cell carcinoma , lung small cell carcinoma , lung squamous cell carcinoma , Neoplasm Invasiveness , Neoplasm Metastasis , osteoarthritis , prostate cancer , RASopathy , rectum adenocarcinoma , Recurrence , renal cell carcinoma , Reperfusion Injury , Sleep Deprivation , spinocerebellar ataxia type 19/22 , spinocerebellar ataxia type 26 , stomach cancer Eef2k Alzheimer's disease , autistic disorder , chromosome 16p12.1 deletion syndrome , lung adenocarcinoma , schizophrenia Eif4a1 autism spectrum disorder , common variable immunodeficiency , congenital myasthenic syndrome 2A , dyskeratosis congenita , human immunodeficiency virus infectious disease , Li-Fraumeni syndrome , very long chain acyl-CoA dehydrogenase deficiency Eif4b autism spectrum disorder , major depressive disorder Eif4e autism spectrum disorder , autistic disorder , mantle cell lymphoma , Myocardial Ischemia , Neoplasm Invasiveness , Sepsis , vascular dementia Eif4e2 Joubert syndrome 22 , Perlman syndrome Eif4ebp1 acute myeloid leukemia , hereditary spastic paraplegia 54 , human immunodeficiency virus infectious disease , hypogonadotropic hypogonadism 2 with or without anosmia , Inflammation , Kidney Neoplasms , lung non-small cell carcinoma , mantle cell lymphoma , Myocardial Ischemia , paraplegia , pre-malignant neoplasm , tuberous sclerosis Fbxw11 NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME Fkbp1a Barth syndrome , congenital heart disease , esophagus squamous cell carcinoma , Experimental Liver Cirrhosis , Parkinsonism Flcn autistic disorder , Birt-Hogg-Dube syndrome , bladder exstrophy-epispadias-cloacal exstrophy complex , colon carcinoma , colorectal cancer , Colorectal Neoplasms , common variable immunodeficiency 2 , Cysts , Hamartoma , hepatoblastoma , hereditary breast ovarian cancer syndrome , Hereditary Neoplastic Syndromes , Joubert syndrome 1 , Liver Neoplasms , nonpapillary renal cell carcinoma , ovarian cancer , pilocytic astrocytoma , pneumothorax , Potocki-Lupski syndrome , primary spontaneous pneumothorax , renal cell carcinoma , renal oncocytoma Fnip1 familial adenomatous polyposis 1 , genetic disease , Hereditary Neoplastic Syndromes , Immunodeficiency 93 , Neurodevelopmental Disorders , schizophrenia , systemic primary carnitine deficiency disease , Wolff-Parkinson-White syndrome Fnip2 Leukoencephalopathies Hif1a acute kidney failure , Acute-Phase Reaction , Alcoholic Liver Diseases , Alzheimer's disease , Anaplasia , Arterial Thrombosis , Asphyxia , asthma , atrial fibrillation , bladder neck obstruction , Brain Hypoxia-Ischemia , brain infarction , brain ischemia , Breast Neoplasms , bronchopulmonary dysplasia , Burns , carcinoma , Cardiomegaly , cerebral infarction , cholangiocarcinoma , cholesteatoma of middle ear , Choroidal Neovascularization , Chronic Cerebral Hypoperfusion , Chronic Intermittent Hypoxia , chronic obstructive pulmonary disease , Colonic Neoplasms , colorectal cancer , congenital heart disease , congestive heart failure , decubitus ulcer , Diabetes Complications , Diabetic Foot , Diabetic Nephropathies , diabetic retinopathy , Disease Progression , Ductal Carcinoma , ductal carcinoma in situ , esophagus squamous cell carcinoma , Experimental Arthritis , Experimental Autoimmune Neuritis , Experimental Diabetes Mellitus , Experimental Mammary Neoplasms , Experimental Neoplasms , Experimental Radiation Injuries , Femur Head Necrosis , glioblastoma , glycogen storage disease V , glycogen storage disease VII , Hearing Loss, Noise-Induced , hemangioblastoma , hepatic encephalopathy , hepatocellular carcinoma , Hot Flashes , Hyperalgesia , Hyperplasia , hypertension , idiopathic pulmonary fibrosis , Infarction , interstitial cystitis , Intervertebral Disc Disease , Intervertebral Disc Displacement , invasive ductal carcinoma , kidney failure , Kidney Reperfusion Injury , limb ischemia , liver cirrhosis , lung disease , lung non-small cell carcinoma , macular retinal edema , Maffucci syndrome , malignant astrocytoma , Memory Disorders , Micronuclei, Chromosome-Defective , middle cerebral artery infarction , morbid obesity , mycosis fungoides , myocardial infarction , Myocardial Ischemia , Myocardial Reperfusion Injury , Neoplasm Invasiveness , Neoplastic Cell Transformation , nephroblastoma , obesity , olfactory neuroblastoma , Ollier disease , osteoarthritis , ovarian cancer , Oxygen-Induced Retinopathy , pancreatic cancer , Phyllodes Tumor , polycystic kidney disease , Postmenopausal Osteoporosis , pre-eclampsia , primary biliary cholangitis , prostate cancer , Prostatic Neoplasms , proteinuria , psoriasis , pulmonary hypertension , Radiation Injuries , renal cell carcinoma , Reperfusion Injury , retinal ischemia , Retinal Neovascularization , rheumatoid arthritis , sclerosing cholangitis , skin melanoma , Skin Neoplasms , Spinal Cord Injuries , Subarachnoid Hemorrhage , Temporomandibular Joint Disorders , Testis Reperfusion Injury , Thyroid Neoplasms , transient cerebral ischemia , type 2 diabetes mellitus , Ulcer , urinary bladder cancer , Urologic Neoplasms , varicocele , Venous Thrombosis , Ventricular Remodeling , Werner syndrome Hras acute myeloid leukemia , adenoid cystic carcinoma , Alzheimer's disease , angiosarcoma , Animal Mammary Neoplasms , autistic disorder , autoimmune hepatitis , B-Cell Chronic Lymphocytic Leukemia , Beckwith-Wiedemann syndrome , bladder carcinoma , Brain Neoplasms , Breast Neoplasms , carcinoma , cardiofaciocutaneous syndrome , Chanarin-Dorfman syndrome , chronic lymphocytic leukemia , Colorectal Neoplasms , complex cortical dysplasia with other brain malformations , congenital fibrosis of the extraocular muscles , Congenital Myopathy with Excess of Muscle Spindles , Costello syndrome , delta beta-thalassemia , developmental and epileptic encephalopathy , diabetic retinopathy , disease of cellular proliferation , Disease Progression , early infantile epileptic encephalopathy , endometrial carcinoma , epidermal nevus , esophageal carcinoma , Experimental Diabetes Mellitus , Experimental Liver Neoplasms , Experimental Mammary Neoplasms , Experimental Neoplasms , Follicular Thyroid Cancer , gastric adenocarcinoma , genetic disease , glioblastoma , head and neck squamous cell carcinoma , hepatocellular adenoma , hepatocellular carcinoma , Hereditary Neoplastic Syndromes , high grade glioma , Hydrops Fetalis , Hypophosphatemic Rickets , immunodeficiency 39 , intellectual disability , large congenital melanocytic nevus , Leber congenital amaurosis , linear nevus sebaceous syndrome , liver cancer , liver carcinoma , liver cirrhosis , Liver Neoplasms , lung adenocarcinoma , Lung Neoplasms , lung non-small cell carcinoma , lung squamous cell carcinoma , malignant astrocytoma , melanoma , Mouth Neoplasms , multiple myeloma , myelodysplastic syndrome , Nasopharyngeal Neoplasms , Neoplasm Invasiveness , Neoplastic Cell Transformation , Neoplastic Processes , neuroblastoma , neuronal ceroid lipofuscinosis , Noonan syndrome , Noonan syndrome 1 , Noonan syndrome 3 , obsessive-compulsive disorder , ovarian cancer , Ovarian Neoplasms , ovarian serous cystadenocarcinoma , pancreatic adenocarcinoma , papillary renal cell carcinoma , papilloma , Paraproteinemias , parathyroid adenoma , Penile Neoplasms , phobic disorder , Pigmented Nevus , plasma cell neoplasm , pre-malignant neoplasm , prostate adenocarcinoma , Prostate Cancer, Hereditary, 1 , Prostatic Neoplasms , pulmonary valve stenosis , RASopathy , Recurrence , rhabdomyosarcoma , Salivary Gland Neoplasms , Sebaceous Nevus Syndrome and Hemimegalencephaly , seminoma , skin benign neoplasm , skin melanoma , Skin Neoplasms , spermatocytoma , Splenic Neoplasms , Sporadic Papillary Renal Cell Carcinoma , squamous cell carcinoma , Stomach Neoplasms , T-cell non-Hodgkin lymphoma , thymoma , Thyroid Neoplasms , Tongue Neoplasms , transitional cell carcinoma , Trichilemmoma , urinary bladder cancer , Urinary Bladder Neoplasm , uterine cancer , uterine carcinosarcoma , Uterine Cervical Neoplasms , Vascular Malformations Igf1 acne , acoustic neuroma , acromegaly , acute kidney failure , adenoma , Albuminuria , alcoholic neuropathy , alopecia , Alzheimer's disease , arteriosclerosis , autistic disorder , autosomal recessive nonsyndromic deafness 111 , borna disease , Brain Hypoxia-Ischemia , Brain Injuries , brain ischemia , breast cancer , Breast Neoplasms , Burns , Cachexia , Cardiomegaly , carotid artery disease , Carotid Artery Injuries , Chemical and Drug Induced Liver Injury , cholestasis , Closed Head Injuries , Cockayne syndrome , colitis , congenital diaphragmatic hernia , congenital disorder of glycosylation Ia , congenital hypothyroidism , congestive heart failure , corneal disease , Coronary Disease , coronary stenosis , Crohn's disease , cystic fibrosis , Deafness , demyelinating disease , depressive disorder , diabetes mellitus , Diabetic Cardiomyopathies , Diabetic Foot , Diabetic Nephropathies , diabetic neuropathy , diabetic retinopathy , Diaphragmatic Hernia , dilated cardiomyopathy , Drug-Related Side Effects and Adverse Reactions , Dwarfism , end stage renal disease , endometriosis , Endotoxemia , Experimental Arthritis , Experimental Autoimmune Encephalomyelitis , Experimental Diabetes Mellitus , Experimental Liver Cirrhosis , Experimental Mammary Neoplasms , familial Mediterranean fever , Female Urogenital Diseases , fetal alcohol spectrum disorder , Fetal Growth Retardation , Fetal Macrosomia , folic acid deficiency anemia , genetic disease , glycogen storage disease III , granulomatosis with polyangiitis , Graves ophthalmopathy , Graves' disease , Growth Disorders , head and neck squamous cell carcinoma , Hearing Loss, Noise-Induced , Henoch-Schoenlein purpura , hepatocellular carcinoma , high grade glioma , Huntington's disease , Hyperalgesia , Hyperoxia , Hyperphagia , hypertension , hypertrophic cardiomyopathy , hypothyroidism , Insulin-Like Growth Factor I Deficiency , intellectual disability , Intervertebral Disc Displacement , kidney disease , Knee Osteoarthritis , Kuhnt-Junius degeneration , Laron syndrome , learning disability , lung disease , Malocclusion , Memory Disorders , Metabolic Bone Diseases , metabolic dysfunction-associated steatotic liver disease , microcephaly , middle cerebral artery infarction , movement disease , muscular atrophy , myocardial infarction , Myocardial Ischemia , myopia , Nasal Polyps , Neointima , Neoplasm Invasiveness , Neoplasm Metastasis , Nerve Degeneration , Neurodevelopmental Disorders , Noonan syndrome , osteoarthritis , Osteophytes , osteoporosis , Osteoporotic Fractures , Oxygen-Induced Retinopathy , pancreatic cancer , pancreatic ductal carcinoma , PEHO syndrome , peripheral nervous system disease , Pituitary Neoplasms , Plaque, Atherosclerotic , polycystic ovary syndrome , Postmenopausal Osteoporosis , Precocious Puberty , progeria , prostate carcinoma in situ , Prostatic Neoplasms , psoriasis , pulmonary fibrosis , pycnodysostosis , Reperfusion Injury , retinopathy of prematurity , rheumatic heart disease , Rhinosinusitis , Right Ventricular Hypertrophy , Sarcopenia , severe acute respiratory syndrome , Skin Neoplasms , Skull Fractures , Spontaneous Abortions , Stroke , Sudden Hearing Loss , Thinness , Tongue Neoplasms , transient cerebral ischemia , Turner syndrome , type 1 diabetes mellitus , type 2 diabetes mellitus , urinary bladder cancer , uveal melanoma , vascular dementia , Wounds and Injuries , Zinc Deficiency Ikbkb Alzheimer's disease , breast cancer , Choroidal Neovascularization , colitis , colon cancer , dermatitis , Experimental Arthritis , Experimental Diabetes Mellitus , Experimental Melanoma , genetic disease , glucose intolerance , Hirschsprung's disease , Hyperplasia , hypertension , IMMUNODEFICIENCY 15 , immunodeficiency 15A , immunodeficiency 15B , Inflammation , inflammatory bowel disease , Insulin Resistance , Kidney Reperfusion Injury , liver cancer , middle cerebral artery infarction , muscular atrophy , Neonatal Hyperbilirubinemia , obesity , pancreatic ductal adenocarcinoma , Pancreatic Intraepithelial Neoplasia , pancreatitis , pneumonia , prostate adenocarcinoma , prostate cancer , psoriasis , severe combined immunodeficiency , torsion dystonia 6 , transient cerebral ischemia , Transplant Rejection , type 2 diabetes mellitus , vascular disease Ins1 Abnormal Reflexes , Acute Liver Failure , Alzheimer's disease , Animal Mammary Neoplasms , Beckwith-Wiedemann syndrome , Bradycardia , colorectal cancer , delta beta-thalassemia , depressive disorder , developmental and epileptic encephalopathy , diabetes mellitus , Diabetic Cardiomyopathies , early infantile epileptic encephalopathy , Experimental Diabetes Mellitus , genetic disease , hepatocellular carcinoma , hyperglycemia , Hyperproinsulinemia , hypoglycemia , Hypoinsulinemia , immunodeficiency 39 , Insulin Resistance , Ketosis , maturity-onset diabetes of the young , maturity-onset diabetes of the young type 1 , maturity-onset diabetes of the young type 10 , Necrosis , neonatal diabetes , neuronal ceroid lipofuscinosis , permanent neonatal diabetes mellitus , Permanent Neonatal Diabetes Mellitus 4 , Segawa Syndrome, Autosomal Recessive , Silver-Russell Syndrome 1 , Silver-Russell Syndrome 3 , transient neonatal diabetes mellitus , type 1 diabetes mellitus , type 1 diabetes mellitus 2 , type 2 diabetes mellitus , Type 2 Diabetes Mellitus 1 , Ventricular Dysfunction, Left , Weight Loss Ins2 acute kidney failure , Acute Liver Failure , adenoma , Albuminuria , Alzheimer's disease , Beckwith-Wiedemann syndrome , bipolar disorder , bladder disease , cardiac arrest , cholangiocarcinoma , cognitive disorder , congestive heart failure , cystic kidney disease , delta beta-thalassemia , developmental and epileptic encephalopathy , diabetes mellitus , Diabetic Cardiomyopathies , diabetic ketoacidosis , Diabetic Nephropathies , diabetic retinopathy , disease of metabolism , early infantile epileptic encephalopathy , Edema , Experimental Liver Cirrhosis , generalized dystonia , genetic disease , gestational diabetes , glucose intolerance , hepatitis , hepatocellular carcinoma , hyperglycemia , hyperinsulinism , Hyperkalemia , Hyperproinsulinemia , hypertension , Hypertriglyceridemia , hypertrophic cardiomyopathy , hyperuricemia , hypoglycemia , Hypoinsulinemia , hypokalemia , Hypotension , immunodeficiency 39 , Insulin Resistance , insulinoma , kidney disease , kidney failure , Lewy body dementia , liver disease , maturity-onset diabetes of the young , maturity-onset diabetes of the young type 1 , maturity-onset diabetes of the young type 10 , Memory Disorders , metabolic dysfunction-associated steatotic liver disease , Metabolic Syndrome , Micronuclei, Chromosome-Defective , MPTP Poisoning , muscular disease , neonatal diabetes , Neoplasm Invasiveness , neural tube defect , neuronal ceroid lipofuscinosis , obesity , osteoarthritis , pancreatic cancer , pancreatic ductal carcinoma , pancreatitis , panic disorder , Paralysis , Paresthesia , Parkinson's disease , permanent neonatal diabetes mellitus , Permanent Neonatal Diabetes Mellitus 4 , Phelan-McDermid syndrome , polycystic ovary syndrome , prostate cancer , Prostatic Neoplasms , Rhabdomyolysis , Segawa Syndrome, Autosomal Recessive , steatotic liver disease , Tachycardia , transient neonatal diabetes mellitus , type 1 diabetes mellitus , type 1 diabetes mellitus 2 , type 2 diabetes mellitus , Type 2 Diabetes Mellitus 1 , Ventricular Dysfunction, Left , Ventricular Fibrillation , Ventricular Outflow Obstruction , Weight Loss Irs1 AIDS Dementia Complex , Alzheimer's disease , coronary artery disease , Coronary Disease , diabetes mellitus , end stage renal disease , Endotoxemia , Experimental Diabetes Mellitus , familial hyperlipidemia , Fetal Growth Retardation , head and neck squamous cell carcinoma , hepatocellular carcinoma , hyperinsulinism , Insulin Resistance , maturity-onset diabetes of the young type 1 , metabolic dysfunction-associated steatotic liver disease , Metabolic Syndrome , Neoplastic Cell Transformation , obesity , osteoporosis , pre-malignant neoplasm , Prostatic Neoplasms , Sepsis , type 2 diabetes mellitus , uterine fibroid Lamtor1 3-methylglutaconic aciduria type 7b , cerebral folate receptor alpha deficiency , intellectual disability Lamtor2 Charcot-Marie-Tooth disease type 2 , gastrointestinal stromal tumor , immunodeficiency 42 , Immunodeficiency due to Defect in MAPBP-Interacting Protein , MHC class II deficiency , Noonan syndrome 8 , parathyroid carcinoma , severe congenital neutropenia 3 , severe congenital neutropenia 5 Lamtor4 pleomorphic xanthoastrocytoma Lamtor5 autistic disorder , Breast Neoplasms , developmental and epileptic encephalopathy 32 , glucose intolerance , hereditary spastic paraplegia 63 Lpin1 Acute Recurrent Myoglobinuria, Autosomal Recessive , Cachexia , end stage renal disease , Experimental Diabetes Mellitus , genetic disease , Insulin Resistance , lipodystrophy , morbid obesity , schizophrenia Map2k1 autism spectrum disorder , Bloom syndrome , brain ischemia , breast cancer , cardiofaciocutaneous syndrome , cardiofaciocutaneous syndrome 3 , Cardiovascular Abnormalities , cataract , colorectal cancer , Colorectal Neoplasms , congestive heart failure , Costello syndrome , disease of cellular proliferation , Experimental Liver Neoplasms , Familial Prostate Cancer , gastric adenocarcinoma , genetic disease , hairy cell leukemia , head and neck squamous cell carcinoma , high grade glioma , lung adenocarcinoma , lung non-small cell carcinoma , lung squamous cell carcinoma , melanoma , melorheostosis , neuronal ceroid lipofuscinosis , non-Hodgkin lymphoma , Noonan syndrome , Noonan syndrome 1 , ovarian carcinoma , Ovarian Neoplasms , pancreatic adenocarcinoma , pancreatitis , prostate adenocarcinoma , Prostatic Neoplasms , RASopathy , renal cell carcinoma , skin melanoma , small intestine adenocarcinoma , spermatogenic failure 57 , Sturge-Weber syndrome , transitional cell carcinoma , uterine cancer , Vascular Malformations Map2k2 adenoid cystic carcinoma , amenorrhea , breast cancer , cardiofaciocutaneous syndrome , cardiofaciocutaneous syndrome 1 , cardiofaciocutaneous syndrome 4 , colorectal cancer , Costello syndrome , Dwarfism , gastric adenocarcinoma , glioblastoma , head and neck squamous cell carcinoma , hepatocellular carcinoma , hypertrophic cardiomyopathy , Hypotension , lung non-small cell carcinoma , melanoma , Metabolic Syndrome , migraine , mitral valve prolapse , multicentric Castleman disease , neurofibromatosis-Noonan syndrome , Noonan syndrome , Noonan syndrome 1 , Noonan syndrome with multiple lentigines , Ovarian Neoplasms , Pain , pancreatic adenocarcinoma , Prostatic Neoplasms , RASopathy , skin melanoma , small intestine adenocarcinoma , Smith-Magenis syndrome Mapk1 Aberrant Crypt Foci , alcohol dependence , alcohol use disorder , Alzheimer's disease , Animal Disease Models , autism spectrum disorder , brain ischemia , breast cancer , Cardiomegaly , cardiomyopathy , childhood pilocytic astrocytoma , chromosome 22q11.2 deletion syndrome, distal , cocaine abuse , cocaine dependence , Cocaine-Related Disorders , colon adenocarcinoma , colon cancer , colorectal adenocarcinoma , Colorectal Neoplasms , congenital heart disease , coronary restenosis , Coronavirus infectious disease , demyelinating disease , depressive disorder , Diabetic Cardiomyopathies , Diabetic Nephropathies , DiGeorge syndrome , Dwarfism , endometrial adenocarcinoma , endometrial carcinoma , Endometrioid Carcinomas , Experimental Colitis , Experimental Diabetes Mellitus , Experimental Liver Cirrhosis , Experimental Liver Neoplasms , Experimental Mammary Neoplasms , Experimental Radiation Injuries , extrahepatic cholestasis , Female Infertility , gastric ulcer , genetic disease , Gliosis , glomerulonephritis , Head and Neck Neoplasms , head and neck squamous cell carcinoma , Hemorrhagic Shock , hepatocellular carcinoma , Hodgkin's lymphoma , Hyperalgesia , Hypertrophy , intellectual disability , Intimal Hyperplasia , juvenile rheumatoid arthritis , kidney disease , Kidney Neoplasms , Left Ventricular Hypertrophy , Lung Neoplasms , melanoma , Memory Disorders , middle cerebral artery infarction , morphine dependence , Multiple Organ Failure , myocardial infarction , Myocardial Reperfusion Injury , Neoplasm Invasiveness , Neoplasm Metastasis , Nerve Degeneration , neuronal ceroid lipofuscinosis 6A , Noonan syndrome 13 , obesity , Ovarian Neoplasms , pancreatic adenocarcinoma , Parkinson's disease , Pneumococcal Pneumonia , portal hypertension , Postoperative Cognitive Dysfunction , prostate adenocarcinoma , pulmonary hypertension , renal cell carcinoma , renal fibrosis , Sepsis , severe acute respiratory syndrome , Sezary's disease , Shock , squamous cell carcinoma , Stomach Neoplasms , Testis Reperfusion Injury , thyroid cancer , Thyroid Neoplasms , transitional cell carcinoma , trigeminal neuralgia , type 2 diabetes mellitus , ureteral obstruction , urethral obstruction , Urinary Incontinence , Uterine Cervical Neoplasms , vascular dementia , velocardiofacial syndrome , Weissenbacher-Zweymuller syndrome , withdrawal disorder Mapk3 Aberrant Crypt Foci , alcohol dependence , alcohol use disorder , Alzheimer's disease , Animal Disease Models , Atrophy , autism spectrum disorder , autistic disorder , brain ischemia , cardiomyopathy , chromosome 16p11.2 deletion syndrome, 593-kb , chromosome 16p11.2 duplication syndrome , cocaine abuse , cocaine dependence , Cocaine-Related Disorders , colon adenocarcinoma , colorectal adenocarcinoma , Colorectal Neoplasms , Coronavirus infectious disease , coronin-1A deficiency , Developmental Disabilities , Diabetic Cardiomyopathies , dilated cardiomyopathy , endometrial adenocarcinoma , endometrial carcinoma , Endometrial Neoplasms , Endometrioid Carcinomas , Episodic Kinesigenic Dyskinesia , episodic kinesigenic dyskinesia 1 , Experimental Colitis , Experimental Diabetes Mellitus , Experimental Liver Cirrhosis , Experimental Liver Neoplasms , Experimental Mammary Neoplasms , Experimental Radiation Injuries , extrahepatic cholestasis , Female Infertility , gastric ulcer , Gliosis , Glycogen Storage Disease XII , Head and Neck Neoplasms , high grade glioma , Hyperalgesia , Hypertrophy , Insulin Resistance , Kidney Neoplasms , Lung Neoplasms , Memory Disorders , middle cerebral artery infarction , morphine dependence , Myocardial Reperfusion Injury , Neoplasm Invasiveness , Neoplasm Metastasis , Nerve Degeneration , Neurodevelopmental Disorders , neuronal ceroid lipofuscinosis 6A , obesity , Osteoarthritis, Experimental , Ovarian Neoplasms , pancreatic ductal carcinoma , Parkinson's disease , Pneumococcal Pneumonia , Postoperative Cognitive Dysfunction , Prostatic Neoplasms , pulmonary hypertension , schizophrenia , Sepsis , severe acute respiratory syndrome , Shock , spondylocostal dysostosis 5 , squamous cell carcinoma , Stomach Neoplasms , Testis Reperfusion Injury , trigeminal neuralgia , type 2 diabetes mellitus , ureteral obstruction , withdrawal disorder Mlst8 autosomal dominant polycystic kidney disease , developmental and epileptic encephalopathy 1 , endometrial carcinoma , epilepsy , idiopathic generalized epilepsy , short-rib thoracic dysplasia 9 with or without polydactyly , tuberous sclerosis 2 Mtor acute kidney failure , adenocarcinoma , AIDS-Associated Nephropathy , alcoholic hepatitis , Alcoholic Liver Diseases , atherosclerosis , autism spectrum disorder , autosomal dominant nocturnal frontal lobe epilepsy , autosomal dominant polycystic kidney disease , autosomal recessive polycystic kidney disease , Breast Neoplasms , Burns , Cardiomegaly , CEBALID Syndrome , Cerebral Hemorrhage , Charcot-Marie-Tooth disease type 2 , chondrosarcoma , chromosome 1p36 deletion syndrome , Chronic Allograft Dysfunction , colon cancer , Colonic Neoplasms , Colorectal Neoplasms , complex cortical dysplasia with other brain malformations , congestive heart failure , crescentic glomerulonephritis , Diabetes Mellitus, New-Onset after Transplantation , Diabetic Cardiomyopathies , Diabetic Nephropathies , Drug-Induced Dyskinesia , end stage renal disease , endocrine system disease , epilepsy , exocrine pancreatic insufficiency , Experimental Arthritis , Experimental Diabetes Mellitus , Experimental Liver Cirrhosis , Experimental Mammary Neoplasms , Familial Atrial Fibrillation 6 , Focal Cortical Dysplasia of Taylor , gastric adenocarcinoma , genetic disease , glioblastoma , Hemimegalencephaly , Hemorrhagic Shock , hepatocellular carcinoma , Hepatomegaly , high grade glioma , Hyperalgesia , hypertension , Hypertriglyceridemia , idiopathic interstitial pneumonia , immunodeficiency 14 , Inflammation , intellectual disability , interstitial cystitis , kidney angiomyolipoma , Left Ventricular Hypertrophy , Lung Injury , Lung Neoplasms , lung non-small cell carcinoma , lung small cell carcinoma , lupus nephritis , Lymphatic Metastasis , Macrocephaly , mantle cell lymphoma , melanoma , Mesothelioma , middle cerebral artery infarction , muscular atrophy , Muscular Dystrophy, Animal , myocardial infarction , Neoplasm Metastasis , nephritis , Neurodevelopmental Disorders , obesity , osteoarthritis , Ovarian Neoplasms , pancreatic cancer , pancreatic carcinoma , papillary renal cell carcinoma , Parkinsonism , polycystic kidney disease , portal hypertension , prostate cancer , Prostatic Neoplasms , pulmonary fibrosis , pulmonary hypertension , renal carcinoma , renal cell carcinoma , Renal Cell Carcinoma 1 , Retinal Neovascularization , Right Ventricular Hypertrophy , schizophrenia , sciatic neuropathy , Sepsis , skin melanoma , small cell carcinoma , Smith-Kingsmore Syndrome , Spinal Cord Injuries , Sporadic Papillary Renal Cell Carcinoma , status epilepticus , T-cell acute lymphoblastic leukemia , temporal lobe epilepsy , Temporomandibular Joint Disorders , toxic encephalopathy , transient cerebral ischemia , transitional cell carcinoma , type 2 diabetes mellitus , ureteral obstruction , urinary bladder cancer , uterine cancer , Uterine Cervical Neoplasms , vascular dementia Nprl2 developmental and epileptic encephalopathy , early infantile epileptic encephalopathy , epilepsy , familial focal epilepsy with variable foci , familial focal epilepsy with variable foci 1 , familial focal epilepsy with variable foci 2 , genetic disease , newborn respiratory distress syndrome , primary ciliary dyskinesia , schizophrenia Nprl3 epilepsy , familial focal epilepsy with variable foci 1 , familial focal epilepsy with variable foci 3 , focal epilepsy , genetic disease , intellectual disability Nras acute lymphoblastic leukemia , acute myeloid leukemia , acute promyelocytic leukemia , adrenocortical carcinoma , adult T-cell leukemia/lymphoma , anemia , autoimmune lymphoproliferative syndrome , autoimmune lymphoproliferative syndrome type 4 , B-Cell Chronic Lymphocytic Leukemia , B-cell lymphoma , Brain Neoplasms , cervical cancer , cholangitis , chronic lymphocytic leukemia , chronic myelogenous leukemia, BCR-ABL1 positive , chronic myeloid leukemia , chronic myelomonocytic leukemia , colon carcinoma , colorectal cancer , Colorectal Neoplasms , coronin-1A deficiency , disease of cellular proliferation , epidermal nevus , Experimental Arthritis , Experimental Leukemia , Experimental Liver Neoplasms , Experimental Neoplasms , Experimental Sarcoma , focal epilepsy , Follicular Thyroid Cancer , gastric adenocarcinoma , glioblastoma , hepatocellular carcinoma , hereditary spastic paraplegia 47 , juvenile myelomonocytic leukemia , large congenital melanocytic nevus , leukemia , Leukocytosis , linear nevus sebaceous syndrome , liver carcinoma , Liver Metastasis , lung adenocarcinoma , lung non-small cell carcinoma , lymphoma , medulloblastoma , melanoma , Mouth Neoplasms , multiple myeloma , myelodysplastic syndrome , myeloid leukemia associated with Down Syndrome , myeloid neoplasm , Nasopharyngeal Neoplasms , neuroblastoma , Neurocutaneous Melanosis , Neurodevelopmental Disorders , neurofibrosarcoma , non-Hodgkin lymphoma , Noonan syndrome , Noonan syndrome 1 , Noonan syndrome 6 , ovarian serous cystadenocarcinoma , Paraproteinemias , Pigmented Nevus , plasma cell neoplasm , prostate cancer , Prostate Cancer, Hereditary, 1 , Pyogenic Granuloma , RASopathy , rectal benign neoplasm , renal cell carcinoma , Renal Cell Carcinoma 1 , Sebaceous Nevus Syndrome and Hemimegalencephaly , skin melanoma , Splenomegaly , Stomach Neoplasms , Thyroid Neoplasms , transitional cell carcinoma , uterine cancer Pdcd4 Arterial Injury , Cornelia de Lange syndrome 3 , dilated cardiomyopathy 1DD , Lung Neoplasms , Neoplasm Invasiveness , Neoplastic Cell Transformation , Pulmonary Arterial Hypertension , RASopathy , skin melanoma Pdpk1 Breast Neoplasms , congestive heart failure , developmental and epileptic encephalopathy 1 , diffuse large B-cell lymphoma , epilepsy , idiopathic generalized epilepsy , lung non-small cell carcinoma , Lymphatic Metastasis , prostate adenocarcinoma , prostate cancer , short-rib thoracic dysplasia 9 with or without polydactyly Pgf amyotrophic lateral sclerosis , ankylosing spondylitis , asthma , atherosclerosis , bacterial pneumonia , brain ischemia , breast cancer , carotid artery disease , colitis , congestive heart failure , Crohn's disease , Diabetic Nephropathies , diabetic neuropathy , diabetic retinopathy , dilated cardiomyopathy , end stage renal disease , Endotoxemia , epilepsy , Experimental Arthritis , Experimental Diabetes Mellitus , Experimental Liver Cirrhosis , glioblastoma , hypertension , Hypoxia , Inflammation , intellectual disability , limited scleroderma , liver cirrhosis , lymphedema , myocardial infarction , Myocardial Ischemia , obesity , pancreatic ductal adenocarcinoma , pancreatic endocrine carcinoma , Penetrating Wounds , pre-eclampsia , Premature Birth , pulmonary emphysema , pulmonary hypertension , pyelonephritis , renal cell carcinoma , rheumatoid arthritis , Sepsis , sickle cell anemia , Spontaneous Abortions , status epilepticus , Stroke , systemic lupus erythematosus , temporal lobe epilepsy , Tibial Fractures , Wallerian Degeneration Pik3ca adenocarcinoma , adenoid cystic carcinoma , adrenocortical carcinoma , Agenesis of Corpus Callosum , arteriovenous malformation , autosomal recessive polycystic kidney disease , Bannayan-Riley-Ruvalcaba syndrome , basal cell carcinoma , Brain Neoplasms , breast adenocarcinoma , breast angiosarcoma , breast cancer , Breast Cancer, Familial , breast carcinoma , Breast Neoplasms , Capillary Malformation-Arteriovenous Malformation 1 , Cardiovascular Abnormalities , Cerebral Cavernous Malformation 4 , CLAPO Syndrome , CLOVES syndrome , colon adenocarcinoma , colon carcinoma , colorectal cancer , colorectal carcinoma , Colorectal Neoplasms , complex cortical dysplasia with other brain malformations , Cowden syndrome , Cowden syndrome 5 , Currarino syndrome , cutaneous Paget's disease , Developmental Disabilities , Diabetic Cardiomyopathies , diaphragmatic eventration , diffuse large B-cell lymphoma , disease of cellular proliferation , Disease Progression , Down syndrome , endometrial carcinoma , Endometrial Neoplasms , epidermal nevus , esophageal cancer , esophageal carcinoma , esophagus adenocarcinoma , estrogen-receptor positive breast cancer , Facial Asymmetry , familial multiple nevi flammei , gallbladder cancer , gallbladder carcinoma , gastric adenocarcinoma , Gastrointestinal Neoplasms , genetic disease , glioblastoma , glycogen storage disease II , Growth Disorders , head and neck cancer , Head and Neck Neoplasms , head and neck squamous cell carcinoma , Hemifacial Myohyperplasia , Hemimegalencephaly , hepatocellular carcinoma , Hereditary Neoplastic Syndromes , high grade glioma , Hyperplasia , Hypertelorism , keratoacanthoma , Klippel-Trenaunay syndrome , liver cancer , lung adenocarcinoma , lung cancer , lung carcinoma , Lung Neoplasms , lung non-small cell carcinoma , lung oat cell carcinoma , lung small cell carcinoma , lung squamous cell carcinoma , lymphangioma , Lymphatic Metastasis , Macrocephaly , medulloblastoma , Megalencephaly - Cutis Marmorata Telangiectatica Congenita , Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome , Megalodactyly , melanoma , Mouth Neoplasms , multiple myeloma , Nasopharyngeal Neoplasms , Neoplasm Metastasis , neuroblastoma , NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES , non-Hodgkin lymphoma , Noonan syndrome 8 , ovarian cancer , Ovarian Neoplasms , ovarian serous cystadenocarcinoma , pancreatic adenocarcinoma , papillary renal cell carcinoma , Paraproteinemias , Penile Neoplasms , plasma cell neoplasm , polycystic kidney disease , prostate adenocarcinoma , prostate cancer , Prostatic Neoplasms , PTEN hamartoma tumor syndrome , rectal benign neoplasm , renal cell carcinoma , Renal Cell Carcinoma 1 , rosette-forming glioneuronal tumor , sarcoma , seborrheic keratosis , skin melanoma , Sporadic Papillary Renal Cell Carcinoma , squamous cell carcinoma , stomach cancer , Stomach Neoplasms , Stroke , Thyroid Neoplasms , transitional cell carcinoma , urinary bladder cancer , uterine cancer , uterine carcinosarcoma , Uterine Cervical Neoplasms , Vascular Malformations , Ventricular Dysfunction, Left , Weight Gain Pik3cb colorectal cancer , diffuse large B-cell lymphoma , endometrial cancer , Endometrial Neoplasms , glioblastoma , hepatocellular carcinoma , Lymphatic Metastasis , NATURAL KILLER CELL ENTEROPATHY , prostate adenocarcinoma , prostate cancer , Prostatic Neoplasms , rectal benign neoplasm , schizophrenia , Subarachnoid Hemorrhage , thrombosis , type 2 diabetes mellitus Pik3cd Charcot-Marie-Tooth disease type 2 , Chlamydia pneumonia , chromosome 1p36 deletion syndrome , colorectal cancer , cutaneous leishmaniasis , diffuse large B-cell lymphoma , endometrial cancer , Experimental Arthritis , genetic disease , glioblastoma , immunodeficiency 14 , listeriosis , mantle cell lymphoma , Neurodevelopmental Disorders , primary immunodeficiency disease , Prostatic Neoplasms , Roifman-Chitayat Syndrome , schizophrenia , Streptococcus pneumonia , toxic shock syndrome , visceral leishmaniasis Pik3r1 agammaglobulinemia 7 , Alzheimer's disease , Animal Mammary Neoplasms , astroblastoma , Brain Neoplasms , Breast Neoplasms , Burkitt lymphoma , carcinoma , CLOVES syndrome , Colonic Neoplasms , colorectal cancer , Colorectal Neoplasms , disease of cellular proliferation , endometrial adenocarcinoma , endometrial cancer , endometrial carcinoma , Experimental Diabetes Mellitus , Experimental Mammary Neoplasms , genetic disease , glioblastoma , glucose intolerance , hepatocellular carcinoma , hypertension , hypoglycemia , immunodeficiency 36 , Insulin Resistance , lung adenocarcinoma , lung small cell carcinoma , Megalencephaly - Cutis Marmorata Telangiectatica Congenita , melanoma , Nematode Infections , Neurodevelopmental Disorders , obesity , osteoarthritis , Ovarian Neoplasms , portal hypertension , primary immunodeficiency disease , prostate cancer , Prostatic Neoplasms , renal cell carcinoma , Reperfusion Injury , rheumatoid arthritis , Septic Peritonitis , SHORT syndrome , skin melanoma , Smith-Kingsmore Syndrome , type 2 diabetes mellitus , uterine cancer , uterine carcinosarcoma , Vascular Malformations , vitiligo , X-linked agammaglobulinemia Pik3r2 colon cancer , Colonic Neoplasms , Developmental Disabilities , Endometrioid Carcinomas , epilepsy , genetic disease , hepatocellular carcinoma , intellectual disability , Megalencephaly - Cutis Marmorata Telangiectatica Congenita , Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome , Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 , multiple myeloma , pancreatic ductal adenocarcinoma , prostate cancer , Prostatic Neoplasms , Smith-Kingsmore Syndrome Pik3r3 Breast Cancer, Familial , Charcot-Marie-Tooth disease dominant intermediate C , colon adenocarcinoma , Colorectal Neoplasms , developmental and epileptic encephalopathy , early infantile epileptic encephalopathy , hepatocellular carcinoma , high grade glioma , Neoplasm Metastasis Pik3r5 ataxia with oculomotor apraxia type 3 , colon cancer , spastic ataxia Pld1 Cardiomegaly , developmental cardiac valvular defect , Fanconi-Bickel syndrome , genetic disease , middle cerebral artery infarction , pancreatic ductal adenocarcinoma , visual epilepsy Pld2 Cardiomegaly , congestive heart failure , Myocardial Reperfusion Injury , Orthomyxoviridae Infections , renal cell carcinoma , Reperfusion Injury , visual epilepsy Pml acute promyelocytic leukemia , Bardet-Biedl syndrome , Bloom syndrome , breast ductal carcinoma , Brugada syndrome 8 , clear cell renal cell carcinoma , colorectal cancer , Dyslipidemias , Experimental Liver Neoplasms , glioblastoma , hepatocellular carcinoma , invasive ductal carcinoma , lung cancer , multiple myeloma , Neoplasm Metastasis , Neoplasms, Second Primary , Paget's disease of bone , PAPA syndrome , pre-eclampsia , Prostatic Neoplasms , Rotavirus Infections , schizophrenia , skin cancer , Stevens-Johnson syndrome Poldip3 common variable immunodeficiency 4 , Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities , intellectual disability Ppargc1a abdominal obesity-metabolic syndrome , acute kidney failure , age related macular degeneration , Albuminuria , Alzheimer's disease , amblyopia , amnestic disorder , amyotrophic lateral sclerosis , Bowen's Disease , Brain Injuries , Cardiomegaly , cardiomyopathy , cardiovascular system disease , Carotid Artery Injuries , chronic kidney disease , chronic obstructive pulmonary disease , colitis , congenital hypothyroidism , congestive heart failure , Diabetic Nephropathies , diabetic retinopathy , dilated cardiomyopathy , Diseases of the Aged , Experimental Diabetes Mellitus , Fetal Growth Retardation , glucose intolerance , heart disease , Huntington's disease , hyperglycemia , hyperthyroidism , Hypertriglyceridemia , Hypoxia , Insulin Resistance , Kearns-Sayre syndrome , kidney cancer , kidney failure , Kidney Reperfusion Injury , Left Ventricular Hypertrophy , Lewy body dementia , macular degeneration , malignant fibrous histiocytoma , melanoma , metabolic dysfunction-associated steatotic liver disease , Metabolic Syndrome , Muscular Dystrophy, Animal , myocardial infarction , Myocardial Reperfusion Injury , nephrotic syndrome , neuronal ceroid lipofuscinosis 1 , obesity , Parkinson's disease , Parkinsonism , placental insufficiency , Plaque, Atherosclerotic , prediabetes syndrome , primary biliary cholangitis , pulmonary emphysema , renal fibrosis , Right Ventricular Hypertrophy , Sarcopenia , schizophrenia , sciatic neuropathy , Sepsis , Sleep Initiation and Maintenance Disorders , Spinal Cord Injuries , steatotic liver disease , Takotsubo Cardiomyopathy , type 1 diabetes mellitus , type 2 diabetes mellitus , Ventricular Dysfunction, Right Prkaa1 Acute Lung Injury , amenorrhea , breast cancer , Chemical and Drug Induced Liver Injury , cholestasis , colon cancer , Diabetes Complications , Endotoxemia , Experimental Autoimmune Encephalomyelitis , glucose intolerance , Helicobacter Infections , Huntington's disease , Insulin Resistance , lung non-small cell carcinoma , Neurodevelopmental Disorders , pre-malignant neoplasm , steatotic liver disease , Stomach Neoplasms , type 2 diabetes mellitus Prkaa2 Cardiac Fibrosis , Cardiomegaly , cardiomyopathy , Cardiotoxicity , cerebral malaria , Experimental Diabetes Mellitus , glucose intolerance , High Myopia , Insulin Resistance , Metabolic Syndrome , Myocardial Reperfusion Injury , septic myocarditis , Stroke , type 2 diabetes mellitus , Ventricular Dysfunction, Left Prkca brain ischemia , Breast Neoplasms , Cardiomegaly , chordoid glioma , congestive heart failure , dilated cardiomyopathy , ductal carcinoma in situ , endometrial carcinoma , Experimental Diabetes Mellitus , high grade glioma , hypertension , Intestinal Neoplasms , ischemia , large cell carcinoma , Left Ventricular Hypertrophy , metabolic dysfunction-associated steatotic liver disease , nephrogenic diabetes insipidus , occupational asthma , ovarian cancer , ovarian carcinoma , Pituitary Neoplasms , Polyuria , prostate carcinoma , Reperfusion Injury , Right Ventricular Hypertrophy , urinary bladder cancer Prr5 intellectual disability , Phelan-McDermid syndrome Prr5l intellectual disability Pxn Experimental Melanoma , lung non-small cell carcinoma , Neoplasm Metastasis , Neoplastic Cell Transformation , short chain acyl-CoA dehydrogenase deficiency Rac1 autosomal dominant intellectual developmental disorder 48 , breast cancer , Cardiomegaly , Cardiotoxicity , colon adenocarcinoma , colon adenoma , colorectal adenocarcinoma , colorectal cancer , colorectal carcinoma , congestive heart failure , Developmental Disabilities , Developmental Disease , diabetes mellitus , dilated cardiomyopathy , extrahepatic bile duct adenocarcinoma , gallbladder carcinoma , gastric adenocarcinoma , genetic disease , head and neck squamous cell carcinoma , hepatocellular carcinoma , Left Ventricular Hypertrophy , liver disease , lung adenocarcinoma , lung cancer , melanoma , nasopharynx carcinoma , Neoplasm Metastasis , Neoplastic Cell Transformation , neurodevelopmental disorder with dysmorphic facies and distal limb anomalies , pancreatic adenocarcinoma , pancreatic ductal adenocarcinoma , Sepsis , skin melanoma , stomach cancer , uterine cancer , Ventricular Dysfunction, Left Raf1 Breast Neoplasms , Cardiomegaly , colorectal adenocarcinoma , colorectal adenoma , Colorectal Neoplasms , dilated cardiomyopathy , dilated cardiomyopathy 1B , dilated cardiomyopathy 1NN , Dilated Cardiomyopathy with Left Ventricular Noncompaction , familial hypertrophic cardiomyopathy , gastric adenocarcinoma , genetic disease , hereditary breast ovarian cancer syndrome , high grade glioma , Hyperalgesia , hypertrophic cardiomyopathy , hypertrophic cardiomyopathy 1 , ischemia , Kidney Neoplasms , Liver Neoplasms , lung adenocarcinoma , Lung Neoplasms , lung non-small cell carcinoma , Lymphangiectasis , malignant mesothelioma , melanoma , Noonan syndrome , Noonan syndrome 1 , Noonan syndrome 3 , Noonan syndrome 5 , Noonan syndrome with multiple lentigines , Noonan syndrome with multiple lentigines 2 , ovarian carcinoma , pancreatic adenocarcinoma , pancreatic carcinoma , Pituitary Stalk Interruption Syndrome , prostate adenocarcinoma , prostate cancer , Prostatic Neoplasms , RASopathy , skin melanoma , Ventricular Tachycardia Rb1cc1 autistic disorder , breast adenocarcinoma , breast cancer , Breast Cancer, Familial , Breast Neoplasms , schizophrenia Rheb epilepsy , Hemimegalencephaly , lethal congenital glycogen storage disease of heart , long QT syndrome , lung non-small cell carcinoma , papillary renal cell carcinoma , renal cell carcinoma , Renal Cell Carcinoma 1 , Sporadic Papillary Renal Cell Carcinoma , transitional cell carcinoma , uterine cancer Rhoa Abnormalities, Drug-Induced , acute myocardial infarction , Aicardi-Goutieres Syndrome 1 , alopecia , Animal Disease Models , asthma , autosomal recessive limb-girdle muscular dystrophy type 2P , Brain Injuries , breast cancer , breast carcinoma , Breast Neoplasms , carcinoma , Cardiomegaly , carnitine-acylcarnitine translocase deficiency , Cocaine-Related Disorders , colorectal cancer , Colorectal Neoplasms , congenital diaphragmatic hernia , Craniofacial Abnormalities , Diabetic Nephropathies , ectodermal dysplasia , ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES , esophageal carcinoma , Experimental Autoimmune Encephalomyelitis , Experimental Autoimmune Neuritis , Experimental Diabetes Mellitus , Experimental Liver Cirrhosis , fetal alcohol syndrome , Fibrosis , gastric adenocarcinoma , genetic disease , Germ Cell and Embryonal Neoplasms , glycine encephalopathy , head and neck squamous cell carcinoma , hypertension , Hypopigmentation , Immunoblastic Lymphadenopathy , Left Ventricular Hypertrophy , Leukoencephalopathies , lung adenocarcinoma , Lymphatic Metastasis , membranous glomerulonephritis , multiple sclerosis , Myocardial Reperfusion Injury , Neoplasm Invasiveness , Neoplasm Metastasis , Neurocutaneous Syndromes , non-Hodgkin lymphoma , obesity , Optic Nerve Injuries , ovarian carcinoma , peripheral T-cell lymphoma , Pierson syndrome , primary cutaneous T-cell non-Hodgkin lymphoma , proteinuria , pulmonary hypertension , Spinal Cord Injuries , Stomach Neoplasms , T-cell non-Hodgkin lymphoma , tooth disease , urinary bladder cancer , Urologic Neoplasms , withdrawal disorder Rictor breast ductal carcinoma , colon cancer , colorectal adenocarcinoma , colorectal cancer , esophagus squamous cell carcinoma , Experimental Neoplasms , gallbladder cancer , genetic disease , hepatocellular carcinoma , Liver Metastasis , lung cancer , lung metastasis , lung small cell carcinoma , lymphangioleiomyomatosis , Lymphatic Metastasis , Neurodevelopmental Disorders , primary ovarian insufficiency , stomach cancer , tongue cancer Rps6 Breast Neoplasms , Disease Progression , Experimental Autoimmune Myocarditis , Hemimegalencephaly , hepatocellular carcinoma , Liver Failure , Stomach Neoplasms , Temporomandibular Joint Osteoarthritis , transient cerebral ischemia , vascular dementia Rps6ka1 fetal alcohol spectrum disorder , retinitis pigmentosa 59 , Sezary's disease Rps6ka2 autism spectrum disorder , bipolar disorder Rps6ka3 autistic disorder , bone development disease , Coffin-Lowry syndrome , developmental and epileptic encephalopathy 2 , Developmental Disabilities , genetic disease , glycogen storage disease IXA , hepatocellular carcinoma , Hirsutism , Hypertelorism , intellectual disability , Nance-Horan syndrome , Neoplasm Invasiveness , Neoplasm Metastasis , Neurodevelopmental Disorders , non-syndromic X-linked intellectual disability 19 , Psychomotor Disorders , Pyruvate Dehydrogenase E1 Alpha Deficiency , syndromic X-linked intellectual disability Lubs type Rps6ka6 autistic disorder , syndromic X-linked intellectual disability Lubs type Rps6kb1 Atrophy , autosomal dominant polycystic kidney disease , Burns , Cardiomegaly , colon cancer , diffuse large B-cell lymphoma , dilated cardiomyopathy , hyperinsulinism , hypertension , Hypoproteinemia , Joubert syndrome 1 , Left Ventricular Hypertrophy , muscular atrophy , myocardial infarction , neuronal ceroid lipofuscinosis 1 , obesity , primary biliary cholangitis Rps6kb2 Aicardi-Goutieres Syndrome 3 , Breast Neoplasms , intellectual disability , Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations Rptor developmental coordination disorder , lung metastasis , nicotine dependence , Tobacco Use Disorder RragB autistic disorder , syndromic X-linked intellectual disability Lubs type Rragc Charcot-Marie-Tooth disease dominant intermediate C , follicular lymphoma , genetic disease , LONG-OLSEN-DISTELMAIER SYNDROME Rragd genetic disease , renal hypomagnesemia 7, with or without dilated cardiomyopathy Rrn3 autistic disorder , epilepsy , Parkinson's disease , schizophrenia Sesn2 Chemical and Drug Induced Liver Injury , Colorectal Neoplasms , Hepatomegaly Sfn endometrial carcinoma , Esophageal Neoplasms , esophagus squamous cell carcinoma , hepatocellular carcinoma , in situ carcinoma , Keloid , lung adenocarcinoma , Lymphatic Metastasis , Mouth Neoplasms , ovarian cancer , retinitis pigmentosa 59 , squamous cell carcinoma , transitional cell carcinoma , urinary bladder cancer , vulva squamous cell carcinoma Sgk1 acute myeloid leukemia , Animal Mammary Neoplasms , carcinoma , COVID-19 , diabetic neuropathy , Experimental Mammary Neoplasms , granulosa cell tumor , hypertension , mucinous cystadenocarcinoma , multiple myeloma , serous cystadenocarcinoma , transient cerebral ischemia , uremia Slc7a5 16Q24.3 Microdeletion Syndrome , adenoid cystic carcinoma , allergic contact dermatitis , autism spectrum disorder , autosomal recessive chronic granulomatous disease 4 , bile duct adenocarcinoma , bile duct carcinoma , CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO , Chemical and Drug Induced Liver Injury , cholangiocarcinoma , colon cancer , colorectal adenocarcinoma , colorectal cancer , Disease Progression , Endotoxemia , esophageal carcinoma , esophagitis , esophagus squamous cell carcinoma , Experimental Liver Neoplasms , extrahepatic bile duct adenocarcinoma , Fanconi anemia , gastric adenocarcinoma , glioblastoma , hepatocellular carcinoma , high grade glioma , KBG syndrome , large cell neuroendocrine carcinoma , Liver Metastasis , lung adenocarcinoma , Lung Neoplasms , lung non-small cell carcinoma , lung pleomorphic carcinoma , lung squamous cell carcinoma , Lymphatic Metastasis , malignant astrocytoma , malignant pleural mesothelioma , Neoplasm Metastasis , oral squamous cell carcinoma , primary ciliary dyskinesia 33 , rectum adenocarcinoma , Right Ventricular Hypertrophy , Spinal Cord Injuries , stomach cancer , tongue squamous cell carcinoma , transitional cell carcinoma Srebf1 alcoholic hepatitis , atherosclerosis , autistic disorder , Birt-Hogg-Dube syndrome , common variable immunodeficiency 2 , coronary artery disease , Diabetic Nephropathies , diabetic neuropathy , disease of metabolism , end stage renal disease , Experimental Diabetes Mellitus , Experimental Liver Cirrhosis , familial hyperlipidemia , Fetal Growth Retardation , genetic disease , hepatocellular carcinoma , Hypercholesterolemia , Hypertriglyceridemia , Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 , ichthyosis follicularis-alopecia-photophobia syndrome 1 , Insulin Resistance , Joubert syndrome 1 , kidney disease , lipid storage disease , metabolic dysfunction-associated steatohepatitis , metabolic dysfunction-associated steatotic liver disease , Metabolic Syndrome , obesity , Potocki-Lupski syndrome , Smith-Magenis syndrome , steatotic liver disease , type 2 diabetes mellitus , Urban Schosser Spohn Syndrome , Viral Myocarditis Stk11 adenocarcinoma , B-lymphoblastic leukemia/lymphoma , bile duct cancer , brain cancer , Brain Neoplasms , breast cancer , breast carcinoma , Cardiomegaly , cerebral creatine deficiency syndrome , cervical mucinous adenocarcinoma , colon carcinoma , Cronkhite-Canada syndrome , cyclic hematopoiesis , disease of cellular proliferation , Distal Arthrogryposis, with Impaired Proprioception and Touch , dysplastic nevus syndrome , embryonal rhabdomyosarcoma , endometrial cancer , endometrial carcinoma , familial adenomatous polyposis , familial adenomatous polyposis 1 , familial adenomatous polyposis 2 , familial melanoma , head and neck squamous cell carcinoma , hepatoblastoma , hereditary breast ovarian cancer syndrome , Hereditary Neoplastic Syndromes , hypertension , hyperthyroidism , Insulin Resistance , juvenile polyposis syndrome , Left Ventricular Hypertrophy , lung adenocarcinoma , Lung Neoplasms , lung non-small cell carcinoma , lung squamous cell carcinoma , Lymphatic Metastasis , Marfanoid Mental Retardation Syndrome, Autosomal , melanoma , multiple endocrine neoplasia type 1 , obesity , ovarian cancer , ovarian carcinoma , pancreatic cancer , pancreatic carcinoma , pancreatic ductal carcinoma , Pancreatic Neoplasms , Peutz-Jeghers syndrome , prostate carcinoma in situ , skin melanoma , squamous cell carcinoma , stomach cancer , testicular cancer , testicular germ cell cancer , Testicular Germ Cell Tumor Strada benign epilepsy with centrotemporal spikes , epilepsy , genetic disease , medulloblastoma , polyhydramnios, megalencephaly, and symptomatic epilepsy Tbc1d7 developmental and epileptic encephalopathy 70 , Macrocephaly , Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive Telo2 epilepsy , genetic disease , idiopathic generalized epilepsy , microcephaly , short-rib thoracic dysplasia 9 with or without polydactyly , tuberous sclerosis 2 , YOU-HOOVER-FONG SYNDROME Tsc1 acute myeloid leukemia , anterior segment dysgenesis , autism spectrum disorder , autistic disorder , autosomal dominant nocturnal frontal lobe epilepsy , autosomal recessive polycystic kidney disease , brain disease , breast cancer , cognitive disorder , complex cortical dysplasia with other brain malformations , craniopharyngioma , developmental and epileptic encephalopathy , developmental and epileptic encephalopathy 14 , early infantile epileptic encephalopathy , Ehlers-Danlos syndrome classic type 1 , epilepsy , Focal Cortical Dysplasia of Taylor , Focal Cortical Dysplasia of Taylor, Type IIB , hepatocellular carcinoma , Hereditary Neoplastic Syndromes , high grade glioma , Insulin Resistance , intellectual disability , keratoconus , kidney failure , Kidney Neoplasms , Leigh disease , Lung Neoplasms , lymphangioleiomyomatosis , Mouth Neoplasms , neuroblastoma , obesity , ovarian cancer , pancreatic carcinoma , pleomorphic xanthoastrocytoma , primary coenzyme Q10 deficiency 7 , Primitive Neuroectodermal Tumors , progressive myoclonus epilepsy , Rafiq syndrome , renal cell carcinoma , spinal disease , squamous cell carcinoma , tuberous sclerosis , tuberous sclerosis 1 , urinary bladder cancer , Urinary Bladder Neoplasm , West syndrome Tsc2 Acute Hepatitis , acute myeloid leukemia , Alzheimer's disease , angiomyolipoma , Arthralgia , astroblastoma, MN1-altered , autism spectrum disorder , autistic disorder , bone osteosarcoma , brain disease , Brain Neoplasms , breast cancer , Cafe-au-Lait Spots , developmental and epileptic encephalopathy 1 , endometrial carcinoma , epilepsy , Experimental Diabetes Mellitus , familial adenomatous polyposis 3 , Female Infertility , Fever , Focal Cortical Dysplasia of Taylor , genetic disease , Hamartoma , hemangioma , hepatic angiomyolipoma , hepatocellular carcinoma , Hereditary Neoplastic Syndromes , Hirschsprung Disease 1 , Hirschsprung's disease , idiopathic generalized epilepsy , Inflammation , intellectual disability , Joint Instability , Kidney Neoplasms , leiomyoma , Lung Neoplasms , lymphangioleiomyomatosis , Lymphatic Metastasis , medulloblastoma , Mouth Neoplasms , Nerve Degeneration , Nervous System Malformations , neuroblastoma , Neurodevelopmental Disorders , ovarian cancer , pancreatic cancer , pancreatic ductal carcinoma , polycystic kidney disease , pre-malignant neoplasm , primary coenzyme Q10 deficiency 7 , renal cell carcinoma , short-rib thoracic dysplasia 9 with or without polydactyly , squamous cell carcinoma , tuberous sclerosis , tuberous sclerosis 1 , tuberous sclerosis 2 , uterine fibroid , vascular dementia , West syndrome Tti1 focal epilepsy , genetic disease , intellectual disability , NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES Ulk1 metabolic dysfunction-associated steatohepatitis , mucositis , Osteoarthritis, Experimental , Spinal Cord Injuries Ulk2 autistic disorder , malignant mesothelioma , Meckel Syndrome 9 , Potocki-Lupski syndrome , prostate cancer Ulk3 Bardet-Biedl syndrome , Bloom syndrome , Brugada syndrome 8 , colorectal cancer , PAPA syndrome , schizophrenia Vegfa acoustic neuroma , acute chest syndrome , acute kidney failure , Acute Lung Injury , acute myeloid leukemia , adenocarcinoma , adhesions of uterus , adult-onset Still's disease , Alcoholic Liver Diseases , allergic contact dermatitis , Alzheimer's disease , amyotrophic lateral sclerosis , amyotrophic lateral sclerosis type 1 , angiosarcoma , Arteriovenous Fistula , arteriovenous malformations of the brain , asthma , atherosclerosis , atrial fibrillation , attention deficit hyperactivity disorder , autoimmune hepatitis , Behcet's disease , blindness , brain edema , brain glioma , Brain Hypoxia-Ischemia , Brain Injuries , Brain Neoplasms , Breast Neoplasms , bullous pemphigoid , Cardiomegaly , cardiomyopathy , Cerebral Hemorrhage , cervix uteri carcinoma in situ , Chemical and Drug Induced Liver Injury , cholangiocarcinoma , cholesteatoma , cholesteatoma of middle ear , Choroidal Neovascularization , Chronic Bronchitis , chronic fatigue syndrome , Chronic Intermittent Hypoxia , chronic myeloid leukemia , chronic obstructive pulmonary disease , clear cell renal cell carcinoma , colon cancer , colon carcinoma , Colonic Neoplasms , colorectal cancer , congenital diaphragmatic hernia , congenital heart disease , congestive heart failure , contact dermatitis , corneal neovascularization , coronary artery disease , Coronary Disease , COVID-19 , Crohn's disease , decubitus ulcer , dermatitis herpetiformis , Diabetes Complications , diabetic angiopathy , Diabetic Nephropathies , diabetic neuropathy , diabetic retinopathy , DiGeorge syndrome , disease of cellular proliferation , Drug-Related Side Effects and Adverse Reactions , ductal carcinoma in situ , duodenal ulcer , Endometrial Neoplasms , endometriosis , erythema multiforme , Experimental Arthritis , Experimental Autoimmune Encephalomyelitis , Experimental Colitis , Experimental Diabetes Mellitus , Experimental Liver Cirrhosis , Experimental Mammary Neoplasms , Experimental Neoplasms , extrinsic allergic alveolitis , gastric ulcer , gingivitis , glaucoma , glioblastoma , gliosarcoma , glomerulonephritis , Glomus Tympanicum Tumor , graft-versus-host disease , granulosa cell tumor , Graves' disease , Head and Neck Neoplasms , heart disease , Hemorrhage , hepatocellular carcinoma , hepatopulmonary syndrome , Hypercholesterolemia , Hyperplasia , hypertension , impotence , Infantile Capillary Hemangioma , infantile Refsum disease , Inflammation , inflammatory bowel disease , interstitial cystitis , intracranial aneurysm , Invasive Pulmonary Aspergillosis , inverted papilloma , ischemic colitis , Kawasaki disease , Kuhnt-Junius degeneration , larynx cancer , learning disability , limb ischemia , liver cirrhosis , Liver Failure , Liver Metastasis , Liver Reperfusion Injury , lung disease , lung non-small cell carcinoma , Lymphatic Metastasis , macular degeneration , macular retinal edema , melanoma , Memory Disorders , Metabolic Syndrome , middle cerebral artery infarction , multiple myeloma , myeloid leukemia , myocardial infarction , Myocardial Ischemia , Myocardial Reperfusion Injury , Nasal Polyps , nasopharynx carcinoma , Neoplasm Metastasis , Neoplasm Recurrence, Local , Neoplastic Cell Transformation , neovascular glaucoma , Neovascularization, Pathologic , Nerve Degeneration , neurofibromatosis 1 , neurofibrosarcoma , newborn respiratory distress syndrome , opiate dependence , oral squamous cell carcinoma , osteochondrodysplasia , osteosarcoma , otitis media , Otitis Media with Effusion , ovarian hyperstimulation syndrome , Ovarian Neoplasms , Oxygen-Induced Retinopathy , pancreatic ductal carcinoma , Periodontal Atrophy , polyarteritis nodosa , polycystic ovary syndrome , Polypoidal Choroidal Vasculopathy , portal hypertension , pre-eclampsia , pre-malignant neoplasm , Pregnancy in Diabetics , primary biliary cholangitis , primary sclerosing cholangitis , proliferative diabetic retinopathy , prostate cancer , Prostatic Neoplasms , proteinuria , pseudoxanthoma elasticum , psoriasis , pterygium , pulmonary edema , pulmonary hypertension , renal cell carcinoma , renal Wilms' tumor , respiratory allergy , Retina Reperfusion Injury , retinal disease , retinal ischemia , Retinal Neovascularization , retinal telangiectasia , retinal vein occlusion , retinitis pigmentosa , retinopathy of prematurity , rhabdomyosarcoma , rheumatoid arthritis , rhinitis , Right Ventricular Hypertrophy , Seasonal Allergic Rhinitis , seminoma , Skin Neoplasms , Small-For-Size Syndrome , Spinal Cord Injuries , squamous cell carcinoma , status epilepticus , Stroke , sudden infant death syndrome , systemic scleroderma , temporal lobe epilepsy , Thrombotic Microangiopathies , Tongue Neoplasms , Tympanic Membrane Perforation , type 2 diabetes mellitus , ulcerative colitis , urinary bladder cancer , Urologic Neoplasms , Uterine Cervical Neoplasms , uveal melanoma , Ventricular Remodeling , vestibular schwannomatosis , Wounds and Injuries , Zellweger syndrome Vegfb Brain Injuries , Breast Neoplasms , Choroidal Neovascularization , Disease Progression , Experimental Diabetes Mellitus , high grade glioma , intellectual disability , leukocyte adhesion deficiency 3 , multiple endocrine neoplasia type 1 , myocardial infarction , pancreatic cancer , pulmonary hypertension , Retinal Neovascularization , retinal vein occlusion Vegfc angiosarcoma , atherosclerosis , breast carcinoma , Breast Neoplasms , colon adenocarcinoma , genetic disease , hepatocellular carcinoma , hereditary lymphedema , hereditary lymphedema ID , invasive ductal carcinoma , liver cirrhosis , Lymphatic Metastasis , melanoma , nephroblastoma , Neurodevelopmental Disorders , ovarian cancer , pancreatic adenocarcinoma , papillary carcinoma , pterygium , Recurrence , renal cell carcinoma , Reperfusion Injury , Tongue Neoplasms , urinary bladder cancer Vegfd autistic disorder , Fanconi anemia , lymphangioleiomyomatosis , Lymphatic Metastasis , multiple congenital anomalies-hypotonia-seizures syndrome 2 , Neurodevelopmental Disorders , ovarian carcinoma , pancreatic ductal adenocarcinoma , pancreatic intraductal papillary-mucinous neoplasm , Reperfusion Injury , syndromic X-linked intellectual disability Lubs type , urinary bladder cancer Wdr24 autosomal recessive spinocerebellar ataxia 16 , cerebellar ataxia type 48 , epilepsy , idiopathic generalized epilepsy , short-rib thoracic dysplasia 9 with or without polydactyly , tuberous sclerosis 2 Wdr59 macular corneal dystrophy , Neurodevelopmental Disorders , paraplegia Ywhab adenosine deaminase deficiency , brain ischemia , focal epilepsy , systemic lupus erythematosus , T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations , visual epilepsy Ywhae chromosome 17p13.3 duplication syndrome , Hirschsprung's disease , left ventricular noncompaction , Miller-Dieker lissencephaly syndrome , Neoplasm Metastasis Ywhag Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB , Constipation , COVID-19 , Creutzfeldt-Jakob disease , developmental and epileptic encephalopathy 56 , epilepsy , Experimental Liver Cirrhosis , Failure to Thrive , genetic disease , intellectual disability , learning disability , microcephaly , Muscle Hypotonia , Muscle Spasticity , pleomorphic xanthoastrocytoma , Sporadic Creutzfeldt-Jakob Disease Ywhah cardiomyopathy , Experimental Diabetes Mellitus , muscular dystrophy-dystroglycanopathy type B6 , schizophrenia Ywhaq NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES , osteoarthritis Ywhaz Animal Mammary Neoplasms , carcinoma , childhood absence epilepsy , Cohen syndrome , Dehydration , Experimental Liver Cirrhosis , Experimental Mammary Neoplasms , hepatocellular carcinoma , hypertension , Neoplasm Recurrence, Local , Neurodevelopmental Disorders , Noonan Like Syndrome , schizophrenia , visual epilepsy Yy1 Cardiomegaly , congestive heart failure , Diabetic Nephropathies , disease of cellular proliferation , Disease Progression , GABRIELE-DE VRIES SYNDROME , genetic disease , human immunodeficiency virus infectious disease , hypertrophic cardiomyopathy , intellectual disability , multiple myeloma , Neointima , Neurodevelopmental Disorders , pleuropulmonary blastoma , type 1 diabetes mellitus , Uterine Cervical Neoplasms
16Q24.3 Microdeletion Syndrome Slc7a5 3-methylglutaconic aciduria type 7b Lamtor1 abdominal obesity-metabolic syndrome Ppargc1a Aberrant Crypt Foci Mapk1 , Mapk3 Abnormal Reflexes Ins1 Abnormalities, Drug-Induced Rhoa acne Igf1 acoustic neuroma Igf1 , Vegfa acromegaly Igf1 acute chest syndrome Vegfa Acute Hepatitis Tsc2 acute kidney failure Hif1a , Igf1 , Ins2 , Mtor , Ppargc1a , Vegfa Acute Liver Failure Ins1 , Ins2 Acute Lung Injury Akt1 , Prkaa1 , Vegfa acute lymphoblastic leukemia Nras acute myeloid leukemia Eif4ebp1 , Hras , Nras , Sgk1 , Tsc1 , Tsc2 , Vegfa acute myocardial infarction Rhoa acute promyelocytic leukemia Akt1 , Nras , Pml Acute Recurrent Myoglobinuria, Autosomal Recessive Lpin1 Acute-Phase Reaction Hif1a adenocarcinoma Akt1 , Akt2 , Eef2 , Mtor , Pik3ca , Stk11 , Vegfa adenoid cystic carcinoma Hras , Map2k2 , Pik3ca , Slc7a5 adenoma Igf1 , Ins2 adenosine deaminase deficiency Ywhab adhesions of uterus Vegfa adrenocortical carcinoma Braf , Nras , Pik3ca adult T-cell leukemia/lymphoma Nras adult-onset Still's disease Vegfa agammaglobulinemia 7 Pik3r1 age related macular degeneration Ppargc1a Agenesis of Corpus Callosum Pik3ca Aicardi-Goutieres Syndrome 1 Rhoa Aicardi-Goutieres Syndrome 3 Rps6kb2 AIDS Dementia Complex Irs1 AIDS-Associated Nephropathy Mtor Albuminuria Igf1 , Ins2 , Ppargc1a alcohol dependence Mapk1 , Mapk3 alcohol use disorder Mapk1 , Mapk3 alcoholic hepatitis Akt1 , Mtor , Srebf1 Alcoholic Liver Diseases Akt1 , Hif1a , Mtor , Vegfa alcoholic neuropathy Igf1 allergic contact dermatitis Slc7a5 , Vegfa alopecia Igf1 , Rhoa Alzheimer's disease Akt1 , Eef2 , Eef2k , Hif1a , Hras , Igf1 , Ikbkb , Ins1 , Ins2 , Irs1 , Mapk1 , Mapk3 , Pik3r1 , Ppargc1a , Tsc2 , Vegfa amblyopia Ppargc1a ameloblastoma Braf amenorrhea Eef2 , Map2k2 , Prkaa1 amnestic disorder Ppargc1a amphetamine abuse Akt1 amyotrophic lateral sclerosis Akt1 , Pgf , Ppargc1a , Vegfa amyotrophic lateral sclerosis type 1 Vegfa Anaplasia Hif1a anemia Nras angiomyolipoma Tsc2 angiosarcoma Hras , Vegfa , Vegfc Animal Disease Models Akt1 , Mapk1 , Mapk3 , Rhoa Animal Mammary Neoplasms Hras , Ins1 , Pik3r1 , Sgk1 , Ywhaz ankylosing spondylitis Pgf anterior segment dysgenesis Tsc1 Aortic Aneurysm, Giant Congenital Braf Arterial Injury Pdcd4 Arterial Thrombosis Hif1a arteriosclerosis Igf1 Arteriovenous Fistula Vegfa arteriovenous malformation Pik3ca arteriovenous malformations of the brain Braf , Vegfa Arthralgia Tsc2 Asphyxia Hif1a asthma Hif1a , Pgf , Rhoa , Vegfa astroblastoma Pik3r1 astroblastoma, MN1-altered Tsc2 ataxia telangiectasia Braf ataxia with oculomotor apraxia type 3 Pik3r5 atherosclerosis Akt1 , Mtor , Pgf , Srebf1 , Vegfa , Vegfc atrial fibrillation Hif1a , Vegfa Atrophy Mapk3 , Rps6kb1 attention deficit hyperactivity disorder Vegfa autism spectrum disorder Eif4a1 , Eif4b , Eif4e , Map2k1 , Mapk1 , Mapk3 , Mtor , Rps6ka2 , Slc7a5 , Tsc1 , Tsc2 autistic disorder Eef2k , Eif4e , Flcn , Hras , Igf1 , Lamtor5 , Mapk3 , Rb1cc1 , Rps6ka3 , Rps6ka6 , RragB , Rrn3 , Srebf1 , Tsc1 , Tsc2 , Ulk2 , Vegfd autoimmune hepatitis Hras , Vegfa autoimmune lymphoproliferative syndrome Nras autoimmune lymphoproliferative syndrome type 4 Nras autosomal dominant intellectual developmental disorder 48 Rac1 autosomal dominant nocturnal frontal lobe epilepsy Depdc5 , Mtor , Tsc1 autosomal dominant polycystic kidney disease Mlst8 , Mtor , Rps6kb1 autosomal recessive chronic granulomatous disease 4 Slc7a5 autosomal recessive limb-girdle muscular dystrophy type 2P Rhoa autosomal recessive nonsyndromic deafness 111 Igf1 autosomal recessive polycystic kidney disease Akt1 , Mtor , Pik3ca , Tsc1 autosomal recessive spinocerebellar ataxia 16 Wdr24 B-Cell Chronic Lymphocytic Leukemia Braf , Hras , Nras B-cell lymphoma Nras B-lymphoblastic leukemia/lymphoma Stk11 bacterial pneumonia Pgf Bannayan-Riley-Ruvalcaba syndrome Pik3ca Bardet-Biedl syndrome Akt3 , Pml , Ulk3 Bardet-Biedl syndrome 16 Akt3 Barth syndrome Fkbp1a basal cell carcinoma Pik3ca Beckwith-Wiedemann syndrome Hras , Ins1 , Ins2 Behcet's disease Vegfa benign epilepsy with centrotemporal spikes Depdc5 , Strada benign familial infantile seizures 6 Depdc5 bile duct adenocarcinoma Slc7a5 bile duct adenoma Braf bile duct cancer Stk11 bile duct carcinoma Slc7a5 bipolar disorder Akt1 , Ins2 , Rps6ka2 Birt-Hogg-Dube syndrome Flcn , Srebf1 bladder carcinoma Hras bladder disease Ins2 bladder exstrophy-epispadias-cloacal exstrophy complex Flcn bladder neck obstruction Hif1a blindness Vegfa Bloom syndrome Map2k1 , Pml , Ulk3 bone development disease Rps6ka3 bone osteosarcoma Akt1 , Tsc2 borna disease Igf1 Bowen's Disease Ccne1 , Ppargc1a Bradycardia Ins1 brain cancer Stk11 brain disease Tsc1 , Tsc2 brain edema Vegfa brain glioblastoma multiforme Eef2 brain glioma Vegfa Brain Hypoxia-Ischemia Hif1a , Igf1 , Vegfa brain infarction Hif1a Brain Injuries Akt1 , Igf1 , Ppargc1a , Rhoa , Vegfa , Vegfb brain ischemia Akt1 , Cycs , Hif1a , Igf1 , Map2k1 , Mapk1 , Mapk3 , Pgf , Prkca , Ywhab Brain Neoplasms Braf , Hras , Nras , Pik3ca , Pik3r1 , Stk11 , Tsc2 , Vegfa breast adenocarcinoma Akt1 , Ccne1 , Pik3ca , Rb1cc1 breast angiosarcoma Pik3ca breast cancer Akt1 , Ccne1 , Cdk2 , Igf1 , Ikbkb , Map2k1 , Map2k2 , Mapk1 , Pgf , Pik3ca , Prkaa1 , Rac1 , Rb1cc1 , Rhoa , Stk11 , Tsc1 , Tsc2 Breast Cancer, Familial Akt1 , Pik3ca , Pik3r3 , Rb1cc1 breast carcinoma Pik3ca , Rhoa , Stk11 , Vegfc breast ductal carcinoma Pml , Rictor Breast Neoplasms Akt1 , Akt2 , Braf , Ccne1 , Eef2 , Hif1a , Hras , Igf1 , Lamtor5 , Mtor , Pdpk1 , Pik3ca , Pik3r1 , Prkca , Raf1 , Rb1cc1 , Rhoa , Rps6 , Rps6kb2 , Vegfa , Vegfb , Vegfc bronchopulmonary dysplasia Hif1a Brugada syndrome 8 Pml , Ulk3 bullous pemphigoid Vegfa Burkitt lymphoma Pik3r1 Burns Hif1a , Igf1 , Mtor , Rps6kb1 Cachexia Igf1 , Lpin1 Cafe-au-Lait Spots Tsc2 Calcification of Aortic Valve Akt1 cancer Braf cannabis abuse Akt1 capillary hemangioma Akt3 Capillary Malformation-Arteriovenous Malformation 1 Pik3ca CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO Slc7a5 Carcinogenesis Akt1 , Braf carcinoma Hif1a , Hras , Pik3r1 , Rhoa , Sgk1 , Ywhaz cardiac arrest Akt1 , Ins2 Cardiac Fibrosis Prkaa2 cardiofaciocutaneous syndrome Braf , Hras , Map2k1 , Map2k2 cardiofaciocutaneous syndrome 1 Braf , Map2k2 cardiofaciocutaneous syndrome 3 Map2k1 cardiofaciocutaneous syndrome 4 Map2k2 Cardiomegaly Akt1 , Hif1a , Igf1 , Mapk1 , Mtor , Pld1 , Pld2 , Ppargc1a , Prkaa2 , Prkca , Rac1 , Raf1 , Rhoa , Rps6kb1 , Stk11 , Vegfa , Yy1 cardiomyopathy Akt1 , Braf , Mapk1 , Mapk3 , Ppargc1a , Prkaa2 , Vegfa , Ywhah Cardiotoxicity Prkaa2 , Rac1 Cardiovascular Abnormalities Map2k1 , Pik3ca cardiovascular system disease Ppargc1a carnitine-acylcarnitine translocase deficiency Rhoa carotid artery disease Igf1 , Pgf Carotid Artery Injuries Igf1 , Ppargc1a Carpenter Syndrome 2 Akt2 cataract Map2k1 CEBALID Syndrome Mtor cerebellar ataxia type 48 Wdr24 Cerebral Cavernous Malformation 4 Pik3ca cerebral creatine deficiency syndrome Stk11 cerebral folate receptor alpha deficiency Lamtor1 Cerebral Hemorrhage Mtor , Vegfa cerebral infarction Hif1a cerebral malaria Prkaa2 cervical cancer Nras cervical mucinous adenocarcinoma Stk11 cervix uteri carcinoma in situ Ccne1 , Vegfa Chanarin-Dorfman syndrome Hras Charcot-Marie-Tooth disease axonal type 2O Akt1 Charcot-Marie-Tooth disease dominant intermediate C Pik3r3 , Rragc Charcot-Marie-Tooth disease type 2 Lamtor2 , Mtor , Pik3cd Chemical and Drug Induced Liver Injury Igf1 , Prkaa1 , Sesn2 , Slc7a5 , Vegfa childhood absence epilepsy Ywhaz childhood pilocytic astrocytoma Mapk1 Chlamydia pneumonia Pik3cd Chloracne Cycs cholangiocarcinoma Braf , Cycs , Hif1a , Ins2 , Slc7a5 , Vegfa cholangitis Nras cholestasis Igf1 , Prkaa1 cholesteatoma Vegfa cholesteatoma of middle ear Hif1a , Vegfa chondrosarcoma Mtor chordoid glioma Prkca Choroidal Neovascularization Hif1a , Ikbkb , Vegfa , Vegfb chromosome 13q14 deletion syndrome Cab39l chromosome 16p11.2 deletion syndrome, 593-kb Mapk3 chromosome 16p11.2 duplication syndrome Mapk3 chromosome 16p12.1 deletion syndrome Eef2k chromosome 17p13.3 duplication syndrome Ywhae chromosome 1p36 deletion syndrome Mtor , Pik3cd chromosome 22q11.2 deletion syndrome, distal Mapk1 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB Ywhag Chronic Allograft Dysfunction Mtor Chronic Bronchitis Vegfa Chronic Cerebral Hypoperfusion Hif1a chronic fatigue syndrome Vegfa Chronic Intermittent Hypoxia Bnip3 , Hif1a , Vegfa chronic kidney disease Ppargc1a chronic lymphocytic leukemia Braf , Hras , Nras chronic myelogenous leukemia, BCR-ABL1 positive Braf , Nras chronic myeloid leukemia Akt1 , Braf , Nras , Vegfa chronic myelomonocytic leukemia Nras chronic obstructive pulmonary disease Bnip3 , Hif1a , Ppargc1a , Vegfa CLAPO Syndrome Pik3ca clear cell renal cell carcinoma Pml , Vegfa Closed Head Injuries Igf1 CLOVES syndrome Pik3ca , Pik3r1 cocaine abuse Mapk1 , Mapk3 cocaine dependence Mapk1 , Mapk3 Cocaine-Related Disorders Mapk1 , Mapk3 , Rhoa Cockayne syndrome Igf1 Coffin-Lowry syndrome Rps6ka3 cognitive disorder Ins2 , Tsc1 Cohen syndrome Ywhaz colitis Igf1 , Ikbkb , Pgf , Ppargc1a colon adenocarcinoma Eef2 , Mapk1 , Mapk3 , Pik3ca , Pik3r3 , Rac1 , Vegfc colon adenoma Rac1 colon cancer Akt1 , Akt3 , Ikbkb , Mapk1 , Mtor , Pik3r2 , Pik3r5 , Prkaa1 , Rictor , Rps6kb1 , Slc7a5 , Vegfa colon carcinoma Akt1 , Braf , Flcn , Nras , Pik3ca , Stk11 , Vegfa Colonic Neoplasms Braf , Ccne1 , Hif1a , Mtor , Pik3r1 , Pik3r2 , Vegfa colorectal adenocarcinoma Braf , Mapk1 , Mapk3 , Rac1 , Raf1 , Rictor , Slc7a5 colorectal adenoma Raf1 colorectal cancer Akt1 , Akt2 , Braf , Eef2 , Flcn , Hif1a , Ins1 , Map2k1 , Map2k2 , Nras , Pik3ca , Pik3cb , Pik3cd , Pik3r1 , Pml , Rac1 , Rhoa , Rictor , Slc7a5 , Ulk3 , Vegfa colorectal carcinoma Pik3ca , Rac1 Colorectal Neoplasms Akt1 , Akt2 , Braf , Flcn , Hras , Map2k1 , Mapk1 , Mapk3 , Mtor , Nras , Pik3ca , Pik3r1 , Pik3r3 , Raf1 , Rhoa , Sesn2 common variable immunodeficiency Eif4a1 common variable immunodeficiency 2 Flcn , Srebf1 common variable immunodeficiency 4 Poldip3 complex cortical dysplasia with other brain malformations Akt3 , Hras , Mtor , Pik3ca , Tsc1 congenital diaphragmatic hernia Igf1 , Rhoa , Vegfa congenital disorder of glycosylation Ia Igf1 congenital disorder of glycosylation type IIc Atg13 congenital fibrosis of the extraocular muscles Hras congenital heart disease Fkbp1a , Hif1a , Mapk1 , Vegfa congenital hypoplastic anemia Akt2 congenital hypothyroidism Igf1 , Ppargc1a congenital myasthenic syndrome 2A Eif4a1 Congenital Myopathy with Excess of Muscle Spindles Hras congestive heart failure Bnip3 , Hif1a , Igf1 , Ins2 , Map2k1 , Mtor , Pdpk1 , Pgf , Pld2 , Ppargc1a , Prkca , Rac1 , Vegfa , Yy1 Constipation Ywhag contact dermatitis Vegfa corneal disease Igf1 corneal neovascularization Vegfa Cornelia de Lange syndrome 3 Pdcd4 coronary artery disease Akt1 , Irs1 , Srebf1 , Vegfa Coronary Disease Igf1 , Irs1 , Vegfa coronary restenosis Mapk1 coronary stenosis Igf1 Coronavirus infectious disease Mapk1 , Mapk3 coronin-1A deficiency Mapk3 , Nras Costello syndrome Braf , Hras , Map2k1 , Map2k2 COVID-19 Akt3 , Ddit4 , Eef2 , Sgk1 , Vegfa , Ywhag Cowden syndrome Pik3ca Cowden syndrome 5 Pik3ca Cowden syndrome 6 Akt1 Craniofacial Abnormalities Rhoa craniopharyngioma Braf , Tsc1 craniosynostosis Akt2 crescentic glomerulonephritis Mtor Creutzfeldt-Jakob disease Ywhag Crohn's disease Igf1 , Pgf , Vegfa Cronkhite-Canada syndrome Stk11 Currarino syndrome Pik3ca cutaneous leishmaniasis Pik3cd cutaneous Paget's disease Pik3ca cyclic hematopoiesis Stk11 cystic fibrosis Igf1 cystic kidney disease Ins2 Cysts Flcn Dandy-Walker syndrome Braf Deafness Igf1 decubitus ulcer Hif1a , Vegfa Dehydration Ywhaz delta beta-thalassemia Hras , Ins1 , Ins2 demyelinating disease Igf1 , Mapk1 depressive disorder Igf1 , Ins1 , Mapk1 dermatitis Ikbkb dermatitis herpetiformis Vegfa developmental and epileptic encephalopathy Hras , Ins1 , Ins2 , Nprl2 , Pik3r3 , Tsc1 developmental and epileptic encephalopathy 1 Mlst8 , Pdpk1 , Tsc2 Developmental and Epileptic Encephalopathy 111 Depdc5 developmental and epileptic encephalopathy 12 Akt1s1 developmental and epileptic encephalopathy 14 Tsc1 developmental and epileptic encephalopathy 2 Rps6ka3 developmental and epileptic encephalopathy 32 Lamtor5 developmental and epileptic encephalopathy 54 Akt3 developmental and epileptic encephalopathy 56 Ywhag developmental and epileptic encephalopathy 70 Tbc1d7 developmental and epileptic encephalopathy 83 Depdc5 developmental cardiac valvular defect Pld1 developmental coordination disorder Rptor Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities Poldip3 Developmental Disabilities Akt3 , Braf , Clip1 , Depdc5 , Mapk3 , Pik3ca , Pik3r2 , Rac1 , Rps6ka3 Developmental Disease Depdc5 , Rac1 Diabetes Complications Hif1a , Prkaa1 , Vegfa diabetes mellitus Igf1 , Ins1 , Ins2 , Irs1 , Rac1 Diabetes Mellitus, New-Onset after Transplantation Mtor diabetic angiopathy Vegfa Diabetic Cardiomyopathies Akt1 , Igf1 , Ins1 , Ins2 , Mapk1 , Mapk3 , Mtor , Pik3ca Diabetic Foot Hif1a , Igf1 diabetic ketoacidosis Ins2 Diabetic Nephropathies Ccne1 , Hif1a , Igf1 , Ins2 , Mapk1 , Mtor , Pgf , Ppargc1a , Rhoa , Srebf1 , Vegfa , Yy1 diabetic neuropathy Igf1 , Pgf , Sgk1 , Srebf1 , Vegfa diabetic retinopathy Akt1 , Hif1a , Hras , Igf1 , Ins2 , Pgf , Ppargc1a , Vegfa Diamond-Blackfan anemia Akt2 diaphragmatic eventration Pik3ca Diaphragmatic Hernia Igf1 diffuse large B-cell lymphoma Braf , Pdpk1 , Pik3ca , Pik3cb , Pik3cd , Rps6kb1 DiGeorge syndrome Mapk1 , Vegfa dilated cardiomyopathy Braf , Igf1 , Mapk3 , Pgf , Ppargc1a , Prkca , Rac1 , Raf1 , Rps6kb1 dilated cardiomyopathy 1B Raf1 dilated cardiomyopathy 1DD Pdcd4 dilated cardiomyopathy 1NN Raf1 Dilated Cardiomyopathy with Left Ventricular Noncompaction Raf1 disease of cellular proliferation Braf , Hras , Map2k1 , Nras , Pik3ca , Pik3r1 , Stk11 , Vegfa , Yy1 disease of metabolism Ins2 , Srebf1 Disease Progression Ccne1 , Hif1a , Hras , Pik3ca , Rps6 , Slc7a5 , Vegfb , Yy1 Diseases of the Aged Ppargc1a distal 10q deletion syndrome Bnip3 Distal Arthrogryposis, with Impaired Proprioception and Touch Stk11 Down syndrome Pik3ca Drug-Induced Dyskinesia Mtor Drug-Related Side Effects and Adverse Reactions Igf1 , Vegfa Ductal Carcinoma Hif1a ductal carcinoma in situ Bnip3 , Hif1a , Prkca , Vegfa duodenal ulcer Vegfa Dwarfism Clip1 , Igf1 , Map2k2 , Mapk1 dysembryoplastic neuroepithelial tumor Braf dyskeratosis congenita Eif4a1 Dyslipidemias Pml dysplastic nevus syndrome Braf , Stk11 early infantile epileptic encephalopathy Hras , Ins1 , Ins2 , Nprl2 , Pik3r3 , Tsc1 ectodermal dysplasia Rhoa ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES Rhoa Edema Ins2 Ehlers-Danlos syndrome classic type 1 Tsc1 Embryo Loss Cdk2 embryonal rhabdomyosarcoma Stk11 end stage renal disease Bnip3 , Igf1 , Irs1 , Lpin1 , Mtor , Pgf , Srebf1 endocrine system disease Mtor endometrial adenocarcinoma Mapk1 , Mapk3 , Pik3r1 endometrial cancer Akt2 , Pik3cb , Pik3cd , Pik3r1 , Stk11 endometrial carcinoma Braf , Hras , Mapk1 , Mapk3 , Mlst8 , Pik3ca , Pik3r1 , Prkca , Sfn , Stk11 , Tsc2 Endometrial Neoplasms Cdk2 , Mapk3 , Pik3ca , Pik3cb , Vegfa Endometrioid Carcinomas Akt1 , Ccne1 , Cdk2 , Mapk1 , Mapk3 , Pik3r2 endometriosis Igf1 , Vegfa Endotoxemia Akt1 , Igf1 , Irs1 , Pgf , Prkaa1 , Slc7a5 epidermal nevus Hras , Nras , Pik3ca epilepsy Akt1 , Depdc5 , Mlst8 , Mtor , Nprl2 , Nprl3 , Pdpk1 , Pgf , Pik3r2 , Rheb , Rrn3 , Strada , Telo2 , Tsc1 , Tsc2 , Wdr24 , Ywhag Episodic Kinesigenic Dyskinesia Mapk3 episodic kinesigenic dyskinesia 1 Mapk3 erythema multiforme Vegfa esophageal cancer Akt1 , Pik3ca esophageal carcinoma Akt1 , Hras , Pik3ca , Rhoa , Slc7a5 Esophageal Neoplasms Sfn esophagitis Slc7a5 esophagus adenocarcinoma Pik3ca esophagus squamous cell carcinoma Akt1 , Fkbp1a , Hif1a , Rictor , Sfn , Slc7a5 estrogen-receptor positive breast cancer Pik3ca exocrine pancreatic insufficiency Mtor Experimental Arthritis Akt1 , Hif1a , Igf1 , Ikbkb , Mtor , Nras , Pgf , Pik3cd , Vegfa Experimental Autoimmune Encephalomyelitis Igf1 , Prkaa1 , Rhoa , Vegfa Experimental Autoimmune Myocarditis Rps6 Experimental Autoimmune Neuritis Hif1a , Rhoa Experimental Colitis Akt1 , Mapk1 , Mapk3 , Vegfa Experimental Diabetes Mellitus Akt1 , Eef2 , Hif1a , Hras , Igf1 , Ikbkb , Ins1 , Irs1 , Lpin1 , Mapk1 , Mapk3 , Mtor , Pgf , Pik3r1 , Ppargc1a , Prkaa2 , Prkca , Rhoa , Srebf1 , Tsc2 , Vegfa , Vegfb , Ywhah Experimental Leukemia Nras Experimental Liver Cirrhosis Akt1 , Cdk2 , Fkbp1a , Igf1 , Ins2 , Mapk1 , Mapk3 , Mtor , Pgf , Rhoa , Srebf1 , Vegfa , Ywhag , Ywhaz Experimental Liver Neoplasms Hras , Map2k1 , Mapk1 , Mapk3 , Nras , Pml , Slc7a5 Experimental Mammary Neoplasms Akt1 , Akt2 , Ccne1 , Cdk2 , Hif1a , Hras , Igf1 , Mapk1 , Mapk3 , Mtor , Pik3r1 , Sgk1 , Vegfa , Ywhaz Experimental Melanoma Braf , Ikbkb , Pxn Experimental Neoplasms Braf , Hif1a , Hras , Nras , Rictor , Vegfa Experimental Radiation Injuries Hif1a , Mapk1 , Mapk3 Experimental Sarcoma Nras extrahepatic bile duct adenocarcinoma Rac1 , Slc7a5 extrahepatic cholestasis Mapk1 , Mapk3 extrinsic allergic alveolitis Vegfa Facial Asymmetry Pik3ca Failure to Thrive Ywhag familial adenomatous polyposis Akt1 , Stk11 familial adenomatous polyposis 1 Fnip1 , Stk11 familial adenomatous polyposis 2 Stk11 familial adenomatous polyposis 3 Tsc2 Familial Atrial Fibrillation 6 Mtor familial focal epilepsy with variable foci Depdc5 , Nprl2 familial focal epilepsy with variable foci 1 Depdc5 , Nprl2 , Nprl3 familial focal epilepsy with variable foci 2 Nprl2 familial focal epilepsy with variable foci 3 Nprl3 familial hyperlipidemia Irs1 , Srebf1 familial hypertrophic cardiomyopathy Raf1 familial Mediterranean fever Igf1 familial melanoma Braf , Stk11 familial multiple nevi flammei Pik3ca familial partial lipodystrophy Akt2 Familial Prostate Cancer Map2k1 Fanconi anemia Slc7a5 , Vegfd Fanconi-Bickel syndrome Pld1 Female Infertility Mapk1 , Mapk3 , Tsc2 Female Urogenital Diseases Igf1 Femur Head Necrosis Hif1a fetal alcohol spectrum disorder Igf1 , Rps6ka1 fetal alcohol syndrome Rhoa Fetal Growth Retardation Igf1 , Irs1 , Ppargc1a , Srebf1 Fetal Macrosomia Igf1 Fever Tsc2 Fibrosis Akt1 , Rhoa Focal Cortical Dysplasia of Taylor Mtor , Tsc1 , Tsc2 Focal Cortical Dysplasia of Taylor, Type IIB Tsc1 focal epilepsy Nprl3 , Nras , Tti1 , Ywhab focal segmental glomerulosclerosis 5 Akt1 folic acid deficiency anemia Igf1 follicular lymphoma Rragc Follicular Thyroid Cancer Braf , Hras , Nras GABRIELE-DE VRIES SYNDROME Yy1 gallbladder cancer Braf , Pik3ca , Rictor gallbladder carcinoma Pik3ca , Rac1 ganglioglioma Braf gastric adenocarcinoma Akt1 , Braf , Hras , Map2k1 , Map2k2 , Mtor , Nras , Pik3ca , Rac1 , Raf1 , Rhoa , Slc7a5 gastric ulcer Mapk1 , Mapk3 , Vegfa Gastrointestinal Neoplasms Pik3ca gastrointestinal stromal tumor Akt3 , Braf , Lamtor2 generalized dystonia Ins2 genetic disease Akt1 , Akt2 , Akt3 , Braf , Depdc5 , Fnip1 , Hras , Igf1 , Ikbkb , Ins1 , Ins2 , Lpin1 , Map2k1 , Mapk1 , Mtor , Nprl2 , Nprl3 , Pik3ca , Pik3cd , Pik3r1 , Pik3r2 , Pld1 , Rac1 , Raf1 , Rhoa , Rictor , Rps6ka3 , Rragc , Rragd , Srebf1 , Strada , Telo2 , Tsc2 , Tti1 , Vegfc , Ywhag , Yy1 Germ Cell and Embryonal Neoplasms Ccne1 , Rhoa germinoma Braf gestational diabetes Ins2 gingivitis Vegfa glaucoma Eef2 , Vegfa glioblastoma Akt1 , Akt3 , Braf , Hif1a , Hras , Map2k2 , Mtor , Nras , Pgf , Pik3ca , Pik3cb , Pik3cd , Pik3r1 , Pml , Slc7a5 , Vegfa gliosarcoma Vegfa Gliosis Mapk1 , Mapk3 glomerulonephritis Mapk1 , Vegfa Glomus Tympanicum Tumor Vegfa glucose intolerance Ikbkb , Ins2 , Lamtor5 , Pik3r1 , Ppargc1a , Prkaa1 , Prkaa2 glycine encephalopathy Rhoa glycogen storage disease II Pik3ca glycogen storage disease III Igf1 glycogen storage disease IXA Rps6ka3 glycogen storage disease V Hif1a glycogen storage disease VII Hif1a Glycogen Storage Disease XII Mapk3 graft-versus-host disease Vegfa granulomatosis with polyangiitis Igf1 granulosa cell tumor Sgk1 , Vegfa Graves ophthalmopathy Igf1 Graves' disease Igf1 , Vegfa Growth Disorders Igf1 , Pik3ca Habitual Abortions Cdk2 hairy cell leukemia Map2k1 Hamartoma Flcn , Tsc2 head and neck cancer Pik3ca Head and Neck Neoplasms Mapk1 , Mapk3 , Pik3ca , Vegfa head and neck squamous cell carcinoma Akt1 , Braf , Ccne1 , Cdk2 , Hras , Igf1 , Irs1 , Map2k1 , Map2k2 , Mapk1 , Pik3ca , Rac1 , Rhoa , Stk11 Hearing Loss, Noise-Induced Hif1a , Igf1 heart disease Ppargc1a , Vegfa Helicobacter Infections Prkaa1 hemangioblastoma Hif1a hemangioma Tsc2 Hemifacial Myohyperplasia Pik3ca Hemimegalencephaly Mtor , Pik3ca , Rheb , Rps6 Hemorrhage Bnip3 , Vegfa hemorrhagic disease Cycs Hemorrhagic Shock Mapk1 , Mtor Henoch-Schoenlein purpura Igf1 hepatic angiomyolipoma Tsc2 hepatic encephalopathy Hif1a hepatitis Ccne1 , Ins2 hepatoblastoma Flcn , Stk11 hepatocellular adenoma Hras hepatocellular carcinoma Akt1 , Akt2 , Braf , Cab39 , Ccne1 , Depdc5 , Eef2 , Hif1a , Hras , Igf1 , Ins1 , Ins2 , Irs1 , Map2k2 , Mapk1 , Mtor , Nras , Pik3ca , Pik3cb , Pik3r1 , Pik3r2 , Pik3r3 , Pml , Rac1 , Rictor , Rps6 , Rps6ka3 , Sfn , Slc7a5 , Srebf1 , Tsc1 , Tsc2 , Vegfa , Vegfc , Ywhaz Hepatomegaly Akt1 , Mtor , Sesn2 hepatopulmonary syndrome Vegfa hereditary breast ovarian cancer syndrome Flcn , Raf1 , Stk11 hereditary lymphedema Vegfc hereditary lymphedema ID Vegfc hereditary multiple exostoses Deptor Hereditary Neoplastic Syndromes Akt1 , Flcn , Fnip1 , Hras , Pik3ca , Stk11 , Tsc1 , Tsc2 hereditary spastic paraplegia 47 Nras hereditary spastic paraplegia 54 Eif4ebp1 hereditary spastic paraplegia 63 Lamtor5 heroin dependence Akt1 Herpes Simplex Encephalitis 3 Akt1 high grade glioma Akt2 , Braf , Depdc5 , Hras , Igf1 , Map2k1 , Mapk3 , Mtor , Pik3ca , Pik3r3 , Prkca , Raf1 , Slc7a5 , Tsc1 , Vegfb High Myopia Prkaa2 Hirschsprung Disease 1 Tsc2 Hirschsprung's disease Ikbkb , Tsc2 , Ywhae Hirsutism Rps6ka3 Hodgkin's lymphoma Mapk1 Hot Flashes Hif1a human immunodeficiency virus infectious disease Eif4a1 , Eif4ebp1 , Yy1 Huntington's disease Cycs , Igf1 , Ppargc1a , Prkaa1 Hydrops Fetalis Hras Hyperalgesia Hif1a , Igf1 , Mapk1 , Mapk3 , Mtor , Raf1 Hypercholesterolemia Srebf1 , Vegfa hyperglycemia Ins1 , Ins2 , Ppargc1a hyperinsulinism Ins2 , Irs1 , Rps6kb1 Hyperkalemia Ins2 Hyperoxia Bnip3 , Igf1 Hyperphagia Igf1 Hyperplasia Akt1 , Hif1a , Ikbkb , Pik3ca , Vegfa Hyperproinsulinemia Ins1 , Ins2 Hypertelorism Pik3ca , Rps6ka3 hypertension Akt1 , Akt2 , Ccne1 , Hif1a , Igf1 , Ikbkb , Ins2 , Mtor , Pgf , Pik3r1 , Prkca , Rhoa , Rps6kb1 , Sgk1 , Stk11 , Vegfa , Ywhaz hyperthyroidism Cab39 , Ppargc1a , Stk11 Hypertriglyceridemia Akt1 , Ins2 , Mtor , Ppargc1a , Srebf1 hypertrophic cardiomyopathy Braf , Igf1 , Ins2 , Map2k2 , Raf1 , Yy1 hypertrophic cardiomyopathy 1 Raf1 hypertrophic cardiomyopathy 4 Braf Hypertrophy Mapk1 , Mapk3 hyperuricemia Ins2 hypoglycemia Akt2 , Ins1 , Ins2 , Pik3r1 hypogonadotropic hypogonadism 2 with or without anosmia Eif4ebp1 Hypoinsulinemia Ins1 , Ins2 hypoinsulinemic hypoglycemia with hemihypertrophy Akt2 hypokalemia Ins2 Hypophosphatemic Rickets Hras Hypopigmentation Rhoa Hypoproteinemia Rps6kb1 Hypotension Ins2 , Map2k2 hypothyroidism Igf1 Hypoxia Pgf , Ppargc1a Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 Srebf1 ichthyosis follicularis-alopecia-photophobia syndrome 1 Srebf1 idiopathic generalized epilepsy Mlst8 , Pdpk1 , Telo2 , Tsc2 , Wdr24 idiopathic interstitial pneumonia Mtor idiopathic pulmonary fibrosis Akt1 , Hif1a Immunoblastic Lymphadenopathy Rhoa immunodeficiency 14 Mtor , Pik3cd IMMUNODEFICIENCY 15 Ikbkb immunodeficiency 15A Ikbkb immunodeficiency 15B Ikbkb immunodeficiency 36 Pik3r1 immunodeficiency 39 Hras , Ins1 , Ins2 immunodeficiency 42 Lamtor2 Immunodeficiency 93 Fnip1 Immunodeficiency due to Defect in MAPBP-Interacting Protein Lamtor2 impotence Akt1 , Vegfa in situ carcinoma Akt1 , Sfn Infantile Capillary Hemangioma Vegfa infantile Refsum disease Vegfa Infarction Hif1a Inflammation Akt1 , Eif4ebp1 , Ikbkb , Mtor , Pgf , Tsc2 , Vegfa inflammatory bowel disease Ikbkb , Vegfa Insulin Resistance Akt2 , Ikbkb , Ins1 , Ins2 , Irs1 , Lpin1 , Mapk3 , Pik3r1 , Ppargc1a , Prkaa1 , Prkaa2 , Srebf1 , Stk11 , Tsc1 Insulin-Like Growth Factor I Deficiency Igf1 insulinoma Ins2 intellectual disability Atg13 , Braf , Cab39l , Clip1 , Depdc5 , Hras , Igf1 , Lamtor1 , Mapk1 , Mtor , Nprl3 , Pgf , Pik3r2 , Poldip3 , Prr5 , Prr5l , Rps6ka3 , Rps6kb2 , Tsc1 , Tsc2 , Tti1 , Vegfb , Ywhag , Yy1 intermediate coronary syndrome Akt1 interstitial cystitis Cdk2 , Hif1a , Mtor , Vegfa Intervertebral Disc Disease Hif1a Intervertebral Disc Displacement Akt1 , Hif1a , Igf1 Intestinal Neoplasms Prkca Intimal Hyperplasia Cdk2 , Mapk1 intracranial aneurysm Vegfa intrahepatic cholangiocarcinoma Braf invasive ductal carcinoma Akt1 , Hif1a , Pml , Vegfc Invasive Pulmonary Aspergillosis Vegfa inverted papilloma Vegfa ischemia Akt2 , Cycs , Prkca , Raf1 ischemic colitis Vegfa Joint Instability Tsc2 Joubert syndrome 1 Flcn , Rps6kb1 , Srebf1 Joubert syndrome 22 Cab39 , Eif4e2 juvenile myelomonocytic leukemia Nras juvenile polyposis syndrome Stk11 juvenile rheumatoid arthritis Mapk1 Kawasaki disease Vegfa KBG syndrome Slc7a5 Kearns-Sayre syndrome Ppargc1a Keloid Sfn keratoacanthoma Pik3ca keratoconus Tsc1 Ketosis Ins1 kidney angiomyolipoma Mtor kidney cancer Ppargc1a kidney disease Igf1 , Ins2 , Mapk1 , Srebf1 kidney failure Hif1a , Ins2 , Ppargc1a , Tsc1 Kidney Neoplasms Akt1 , Braf , Eif4ebp1 , Mapk1 , Mapk3 , Raf1 , Tsc1 , Tsc2 Kidney Reperfusion Injury Bnip3 , Hif1a , Ikbkb , Ppargc1a Klippel-Trenaunay syndrome Pik3ca Knee Osteoarthritis Igf1 Kuhnt-Junius degeneration Igf1 , Vegfa Langerhans-cell histiocytosis Braf large cell carcinoma Prkca large cell neuroendocrine carcinoma Slc7a5 large congenital melanocytic nevus Hras , Nras Laron syndrome Igf1 larynx cancer Vegfa learning disability Igf1 , Vegfa , Ywhag Leber congenital amaurosis Hras Left Ventricular Hypertrophy Mapk1 , Mtor , Ppargc1a , Prkca , Rac1 , Rhoa , Rps6kb1 , Stk11 left ventricular noncompaction Ywhae Leigh disease Tsc1 leiomyoma Tsc2 lethal congenital glycogen storage disease of heart Rheb leukemia Ddit4 , Nras leukocyte adhesion deficiency 3 Vegfb Leukocytosis Nras Leukoencephalopathies Fnip2 , Rhoa Lewy body dementia Ins2 , Ppargc1a Li-Fraumeni syndrome Eif4a1 limb ischemia Hif1a , Vegfa limited scleroderma Pgf linear nevus sebaceous syndrome Hras , Nras lipid storage disease Srebf1 lipodystrophy Lpin1 listeriosis Pik3cd liver cancer Ccne1 , Hras , Ikbkb , Pik3ca liver carcinoma Hras , Nras liver cirrhosis Hif1a , Hras , Pgf , Vegfa , Vegfc liver disease Ins2 , Rac1 Liver Failure Rps6 , Vegfa Liver Metastasis Braf , Nras , Rictor , Slc7a5 , Vegfa Liver Neoplasms Braf , Flcn , Hras , Raf1 Liver Reperfusion Injury Atg13 , Vegfa long QT syndrome Rheb LONG-OLSEN-DISTELMAIER SYNDROME Rragc lung adenocarcinoma Akt1 , Braf , Eef2 , Eef2k , Hras , Map2k1 , Nras , Pik3ca , Pik3r1 , Rac1 , Raf1 , Rhoa , Sfn , Slc7a5 , Stk11 lung cancer Braf , Pik3ca , Pml , Rac1 , Rictor lung carcinoma Braf , Pik3ca lung disease Hif1a , Igf1 , Vegfa Lung Injury Mtor lung metastasis Rictor , Rptor Lung Neoplasms Akt1 , Braf , Eef2 , Hras , Mapk1 , Mapk3 , Mtor , Pdcd4 , Pik3ca , Raf1 , Slc7a5 , Stk11 , Tsc1 , Tsc2 lung non-small cell carcinoma Akt1 , Akt2 , Akt3 , Braf , Ccne1 , Cycs , Eef2 , Eif4ebp1 , Hif1a , Hras , Map2k1 , Map2k2 , Mtor , Nras , Pdpk1 , Pik3ca , Prkaa1 , Pxn , Raf1 , Rheb , Slc7a5 , Stk11 , Vegfa lung oat cell carcinoma Akt1 , Pik3ca lung pleomorphic carcinoma Slc7a5 lung small cell carcinoma Akt1 , Eef2 , Mtor , Pik3ca , Pik3r1 , Rictor lung squamous cell carcinoma Akt1 , Braf , Cycs , Eef2 , Hras , Map2k1 , Pik3ca , Slc7a5 , Stk11 lupus nephritis Mtor Lymphangiectasis Raf1 lymphangioleiomyomatosis Rictor , Tsc1 , Tsc2 , Vegfd lymphangioma Braf , Pik3ca Lymphatic Metastasis Braf , Cab39 , Ccne1 , Cycs , Mtor , Pdpk1 , Pik3ca , Pik3cb , Rhoa , Rictor , Sfn , Slc7a5 , Stk11 , Tsc2 , Vegfa , Vegfc , Vegfd lymphedema Pgf lymphoma Nras Macrocephaly Akt3 , Mtor , Pik3ca , Tbc1d7 Macrocephaly Mesodermal Hamartoma Spectrum Akt1 Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive Tbc1d7 macular corneal dystrophy Wdr59 macular degeneration Ppargc1a , Vegfa macular retinal edema Hif1a , Vegfa Maffucci syndrome Hif1a major depressive disorder Eif4b malignant astrocytoma Akt1 , Akt2 , Akt3 , Braf , Hif1a , Hras , Slc7a5 malignant fibrous histiocytoma Ppargc1a malignant mesothelioma Raf1 , Ulk2 malignant pleural mesothelioma Slc7a5 Malocclusion Igf1 Mandibular Neoplasms Braf Manganese Poisoning Bnip3 mantle cell lymphoma Eif4e , Eif4ebp1 , Mtor , Pik3cd maple syrup urine disease Akt2 Marfanoid Mental Retardation Syndrome, Autosomal Stk11 maturity-onset diabetes of the young Ins1 , Ins2 maturity-onset diabetes of the young type 1 Akt2 , Ins1 , Ins2 , Irs1 maturity-onset diabetes of the young type 10 Ins1 , Ins2 Meckel Syndrome 9 Ulk2 medulloblastoma Ccne1 , Nras , Pik3ca , Strada , Tsc2 megacolon Akt3 Megalencephaly - Cutis Marmorata Telangiectatica Congenita Akt3 , Pik3ca , Pik3r1 , Pik3r2 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome Akt3 , Pik3ca , Pik3r2 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 Pik3r2 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 Akt3 Megalodactyly Pik3ca melanoma Akt1 , Braf , Cdk2 , Hras , Map2k1 , Map2k2 , Mapk1 , Mtor , Nras , Pik3ca , Pik3r1 , Ppargc1a , Rac1 , Raf1 , Stk11 , Vegfa , Vegfc melorheostosis Map2k1 membranoproliferative glomerulonephritis Cdk2 membranous glomerulonephritis Rhoa Memory Disorders Akt1 , Hif1a , Igf1 , Ins2 , Mapk1 , Mapk3 , Vegfa Meningeal Neoplasms Akt1 meningioma Akt1 Mesothelioma Mtor Metabolic Bone Diseases Igf1 metabolic dysfunction and alcohol associated liver disease Akt1 metabolic dysfunction-associated steatohepatitis Akt1 , Srebf1 , Ulk1 metabolic dysfunction-associated steatotic liver disease Akt1 , Igf1 , Ins2 , Irs1 , Ppargc1a , Prkca , Srebf1 Metabolic Syndrome Ins2 , Irs1 , Map2k2 , Ppargc1a , Prkaa2 , Srebf1 , Vegfa methylmalonic acidemia Cycs MHC class II deficiency Lamtor2 microcephaly Igf1 , Telo2 , Ywhag Micronuclei, Chromosome-Defective Hif1a , Ins2 Microsatellite Instability Braf middle cerebral artery infarction Bnip3 , Hif1a , Igf1 , Ikbkb , Mapk1 , Mapk3 , Mtor , Pld1 , Vegfa migraine Map2k2 Miller-Dieker lissencephaly syndrome Ywhae mitral valve prolapse Map2k2 morbid obesity Hif1a , Lpin1 morphine dependence Mapk1 , Mapk3 mouth disease Ddit4 Mouth Neoplasms Hras , Nras , Pik3ca , Sfn , Tsc1 , Tsc2 movement disease Igf1 MPTP Poisoning Ins2 mucinous cystadenocarcinoma Sgk1 mucositis Ulk1 multicentric Castleman disease Map2k2 multiple congenital anomalies-hypotonia-seizures syndrome 2 Vegfd multiple endocrine neoplasia type 1 Stk11 , Vegfb multiple myeloma Bnip3 , Braf , Hras , Nras , Pik3ca , Pik3r2 , Pml , Sgk1 , Vegfa , Yy1 Multiple Organ Failure Mapk1 multiple sclerosis Rhoa Muscle Hypotonia Ywhag Muscle Spasticity Ywhag muscular atrophy Akt1 , Igf1 , Ikbkb , Mtor , Rps6kb1 muscular disease Ins2 Muscular Dystrophy, Animal Mtor , Ppargc1a muscular dystrophy-dystroglycanopathy type B6 Depdc5 , Ywhah mycosis fungoides Hif1a myelodysplastic syndrome Hras , Nras myeloid leukemia Vegfa myeloid leukemia associated with Down Syndrome Nras myeloid neoplasm Nras myocardial infarction Akt1 , Bnip3 , Hif1a , Igf1 , Mapk1 , Mtor , Pgf , Ppargc1a , Rps6kb1 , Vegfa , Vegfb Myocardial Ischemia Eif4e , Eif4ebp1 , Hif1a , Igf1 , Pgf , Vegfa Myocardial Reperfusion Injury Akt1 , Akt2 , Bnip3 , Hif1a , Mapk1 , Mapk3 , Pld2 , Ppargc1a , Prkaa2 , Rhoa , Vegfa myoepithelioma Braf myopia Igf1 Nance-Horan syndrome Rps6ka3 Nasal Polyps Igf1 , Vegfa Nasopharyngeal Neoplasms Hras , Nras , Pik3ca nasopharynx carcinoma Rac1 , Vegfa NATURAL KILLER CELL ENTEROPATHY Pik3cb Necrosis Ins1 Nematode Infections Pik3r1 Neointima Akt1 , Igf1 , Yy1 neonatal diabetes Ins1 , Ins2 Neonatal Hyperbilirubinemia Ikbkb Neonatal Hypoglycemia, Simulating Foetopathia Diabetica Akt2 Neoplasm Invasiveness Eef2 , Eif4e , Hif1a , Hras , Igf1 , Ins2 , Mapk1 , Mapk3 , Pdcd4 , Rhoa , Rps6ka3 Neoplasm Metastasis Akt2 , Braf , Cab39 , Ccne1 , Eef2 , Igf1 , Mapk1 , Mapk3 , Mtor , Pik3ca , Pik3r3 , Pml , Pxn , Rac1 , Rhoa , Rps6ka3 , Slc7a5 , Vegfa , Ywhae Neoplasm Micrometastasis Cycs Neoplasm Recurrence, Local Vegfa , Ywhaz Neoplasms, Second Primary Pml Neoplastic Cell Transformation Hif1a , Hras , Irs1 , Pdcd4 , Pxn , Rac1 , Vegfa Neoplastic Processes Hras neovascular glaucoma Vegfa Neovascularization, Pathologic Vegfa nephritis Mtor nephroblastoma Braf , Hif1a , Vegfc nephrogenic diabetes insipidus Prkca nephrotic syndrome Ppargc1a Nerve Degeneration Ddit4 , Igf1 , Mapk1 , Mapk3 , Tsc2 , Vegfa Nervous System Malformations Tsc2 neural tube defect Ins2 neuroblastoma Hras , Nras , Pik3ca , Tsc1 , Tsc2 Neurocutaneous Melanosis Nras Neurocutaneous Syndromes Rhoa neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Rac1 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES Tti1 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES Depdc5 , Pik3ca NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES Ywhaq Neurodevelopmental Disorders Akt3 , Fnip1 , Igf1 , Mapk3 , Mtor , Nras , Pik3cd , Pik3r1 , Prkaa1 , Rictor , Rps6ka3 , Tsc2 , Vegfc , Vegfd , Wdr59 , Ywhaz , Yy1 NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME Fbxw11 neuroendocrine tumor Braf neurofibromatosis 1 Vegfa neurofibromatosis-Noonan syndrome Map2k2 neurofibrosarcoma Nras , Vegfa neuronal ceroid lipofuscinosis Hras , Ins1 , Ins2 , Map2k1 neuronal ceroid lipofuscinosis 1 Ppargc1a , Rps6kb1 neuronal ceroid lipofuscinosis 6A Mapk1 , Mapk3 Nevus Braf newborn respiratory distress syndrome Braf , Nprl2 , Vegfa nicotine dependence Rptor non-Hodgkin lymphoma Braf , Map2k1 , Nras , Pik3ca , Rhoa non-syndromic X-linked intellectual disability 19 Rps6ka3 nonpapillary renal cell carcinoma Flcn Nonseminomatous Germ Cell Tumor Braf Noonan Like Syndrome Ywhaz Noonan syndrome Braf , Hras , Igf1 , Map2k1 , Map2k2 , Nras , Raf1 Noonan syndrome 1 Braf , Hras , Map2k1 , Map2k2 , Nras , Raf1 Noonan syndrome 13 Mapk1 Noonan syndrome 3 Hras , Raf1 Noonan syndrome 5 Raf1 Noonan syndrome 6 Nras Noonan syndrome 7 Braf Noonan syndrome 8 Lamtor2 , Pik3ca Noonan syndrome with multiple lentigines Braf , Map2k2 , Raf1 Noonan syndrome with multiple lentigines 2 Raf1 Noonan syndrome with multiple lentigines 3 Braf obesity Akt1 , Akt2 , Bnip3 , Cycs , Hif1a , Ikbkb , Ins2 , Irs1 , Mapk1 , Mapk3 , Mtor , Pgf , Pik3r1 , Ppargc1a , Rhoa , Rps6kb1 , Srebf1 , Stk11 , Tsc1 obsessive-compulsive disorder Hras occupational asthma Prkca olfactory neuroblastoma Hif1a Ollier disease Hif1a opiate dependence Akt1 , Vegfa Optic Nerve Injuries Cdk2 , Rhoa oral squamous cell carcinoma Slc7a5 , Vegfa Orthomyxoviridae Infections Pld2 osteoarthritis Eef2 , Hif1a , Igf1 , Ins2 , Mtor , Pik3r1 , Ywhaq Osteoarthritis, Experimental Mapk3 , Ulk1 osteochondrodysplasia Vegfa Osteophytes Igf1 osteoporosis Igf1 , Irs1 Osteoporotic Fractures Igf1 osteosarcoma Akt1 , Vegfa otitis media Vegfa Otitis Media with Effusion Vegfa ovarian cancer Akt1 , Flcn , Hif1a , Hras , Pik3ca , Prkca , Sfn , Stk11 , Tsc1 , Tsc2 , Vegfc ovarian carcinoma Akt2 , Ccne1 , Map2k1 , Prkca , Raf1 , Rhoa , Stk11 , Vegfd ovarian hyperstimulation syndrome Vegfa Ovarian Neoplasms Akt1 , Akt2 , Braf , Ccne1 , Cdk2 , Hras , Map2k1 , Map2k2 , Mapk1 , Mapk3 , Mtor , Pik3ca , Pik3r1 , Vegfa ovarian serous cystadenocarcinoma Braf , Hras , Nras , Pik3ca Oxygen-Induced Retinopathy Hif1a , Igf1 , Vegfa Paget's disease of bone Pml Pain Akt1 , Map2k2 pancreatic acinar cell adenocarcinoma Braf pancreatic adenocarcinoma Akt3 , Hras , Map2k1 , Map2k2 , Mapk1 , Pik3ca , Rac1 , Raf1 , Vegfc pancreatic cancer Akt1 , Akt2 , Braf , Cab39 , Cycs , Hif1a , Igf1 , Ins2 , Mtor , Stk11 , Tsc2 , Vegfb pancreatic carcinoma Mtor , Raf1 , Stk11 , Tsc1 pancreatic ductal adenocarcinoma Ikbkb , Pgf , Pik3r2 , Pld1 , Rac1 , Vegfd pancreatic ductal carcinoma Igf1 , Ins2 , Mapk3 , Stk11 , Tsc2 , Vegfa pancreatic endocrine carcinoma Pgf pancreatic intraductal papillary-mucinous neoplasm Akt1 , Vegfd Pancreatic Intraepithelial Neoplasia Ikbkb Pancreatic Neoplasms Stk11 pancreatitis Ikbkb , Ins2 , Map2k1 panic disorder Ins2 PAPA syndrome Pml , Ulk3 papillary carcinoma Vegfc papillary renal cell carcinoma Braf , Hras , Mtor , Pik3ca , Rheb papillary thyroid carcinoma Braf papilloma Hras Paralysis Ins2 paraplegia Akt1 , Eif4ebp1 , Wdr59 Paraproteinemias Braf , Hras , Nras , Pik3ca parathyroid adenoma Hras parathyroid carcinoma Akt3 , Lamtor2 Paresthesia Ins2 Parkinson's disease Akt1 , Ddit4 , Ins2 , Mapk1 , Mapk3 , Ppargc1a , Rrn3 Parkinsonism Fkbp1a , Mtor , Ppargc1a PEHO syndrome Igf1 Penetrating Wounds Pgf Penile Neoplasms Hras , Pik3ca perinatal necrotizing enterocolitis Bnip3 Periodontal Atrophy Vegfa peripheral nervous system disease Igf1 peripheral T-cell lymphoma Rhoa Perlman syndrome Cab39 , Eif4e2 permanent neonatal diabetes mellitus Ins1 , Ins2 Permanent Neonatal Diabetes Mellitus 4 Ins1 , Ins2 Peutz-Jeghers syndrome Stk11 PHACE Association Braf Phelan-McDermid syndrome Ins2 , Prr5 phobic disorder Hras Phyllodes Tumor Hif1a Pierson syndrome Rhoa Pigmented Nevus Hras , Nras pilocytic astrocytoma Flcn Pituitary Neoplasms Igf1 , Prkca Pituitary Stalk Interruption Syndrome Raf1 placental insufficiency Ppargc1a Plaque, Atherosclerotic Igf1 , Ppargc1a plasma cell neoplasm Braf , Hras , Nras , Pik3ca pleomorphic xanthoastrocytoma Braf , Castor2 , Cycs , Lamtor4 , Tsc1 , Ywhag pleuropulmonary blastoma Yy1 Pneumococcal Pneumonia Mapk1 , Mapk3 pneumonia Ikbkb pneumothorax Flcn polyarteritis nodosa Vegfa polycystic kidney disease Hif1a , Mtor , Pik3ca , Tsc2 polycystic ovary syndrome Akt2 , Igf1 , Ins2 , Vegfa polyhydramnios, megalencephaly, and symptomatic epilepsy Strada polymicrogyria Akt3 Polypoidal Choroidal Vasculopathy Vegfa Polyuria Prkca portal hypertension Mapk1 , Mtor , Pik3r1 , Vegfa Postmenopausal Osteoporosis Hif1a , Igf1 Postoperative Cognitive Dysfunction Mapk1 , Mapk3 Potocki-Lupski syndrome Flcn , Srebf1 , Ulk2 pre-eclampsia Hif1a , Pgf , Pml , Vegfa pre-malignant neoplasm Akt1 , Eif4ebp1 , Hras , Irs1 , Prkaa1 , Tsc2 , Vegfa Precocious Puberty Igf1 prediabetes syndrome Ppargc1a Pregnancy in Diabetics Vegfa Premature Birth Braf , Pgf primary biliary cholangitis Hif1a , Ppargc1a , Rps6kb1 , Vegfa primary ciliary dyskinesia Nprl2 primary ciliary dyskinesia 33 Slc7a5 primary coenzyme Q10 deficiency 7 Tsc1 , Tsc2 primary cutaneous T-cell non-Hodgkin lymphoma Braf , Rhoa primary immunodeficiency disease Pik3cd , Pik3r1 primary ovarian insufficiency Rictor primary sclerosing cholangitis Vegfa primary spontaneous pneumothorax Flcn Primitive Neuroectodermal Tumors Tsc1 progeria Igf1 progressive myoclonus epilepsy Tsc1 proliferative diabetic retinopathy Vegfa prostate adenocarcinoma Akt1 , Akt2 , Akt3 , Braf , Hras , Ikbkb , Map2k1 , Mapk1 , Pdpk1 , Pik3ca , Pik3cb , Raf1 prostate cancer Akt1 , Akt2 , Akt3 , Atg13 , Cdk2 , Eef2 , Hif1a , Ikbkb , Ins2 , Mtor , Nras , Pdpk1 , Pik3ca , Pik3cb , Pik3r1 , Pik3r2 , Raf1 , Ulk2 , Vegfa Prostate Cancer, Hereditary, 1 Braf , Hras , Nras prostate carcinoma Akt2 , Prkca prostate carcinoma in situ Ccne1 , Igf1 , Stk11 Prostatic Neoplasms Akt1 , Akt2 , Bnip3 , Braf , Ccne1 , Hif1a , Hras , Igf1 , Ins2 , Irs1 , Map2k1 , Map2k2 , Mapk3 , Mtor , Pik3ca , Pik3cb , Pik3cd , Pik3r1 , Pik3r2 , Pml , Raf1 , Vegfa proteinuria Hif1a , Rhoa , Vegfa Proteus syndrome Akt1 pseudoxanthoma elasticum Vegfa psoriasis Hif1a , Igf1 , Ikbkb , Vegfa Psychomotor Disorders Rps6ka3 PTEN hamartoma tumor syndrome Pik3ca pterygium Vegfa , Vegfc Pulmonary Arterial Hypertension Pdcd4 pulmonary edema Vegfa pulmonary emphysema Pgf , Ppargc1a pulmonary fibrosis Igf1 , Mtor pulmonary hypertension Hif1a , Mapk1 , Mapk3 , Mtor , Pgf , Rhoa , Vegfa , Vegfb pulmonary tuberculosis Akt1 pulmonary valve stenosis Braf , Hras pycnodysostosis Igf1 pyelonephritis Pgf Pyogenic Granuloma Nras Pyruvate Dehydrogenase E1 Alpha Deficiency Rps6ka3 Radiation Injuries Hif1a Rafiq syndrome Tsc1 RASopathy Braf , Eef2 , Hras , Map2k1 , Map2k2 , Nras , Pdcd4 , Raf1 rectal benign neoplasm Nras , Pik3ca , Pik3cb rectum adenocarcinoma Eef2 , Slc7a5 Recurrence Ccne1 , Eef2 , Hras , Vegfc Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations Rps6kb2 renal carcinoma Mtor renal cell carcinoma Akt1 , Akt3 , Ccne1 , Cdk2 , Eef2 , Flcn , Hif1a , Map2k1 , Mapk1 , Mtor , Nras , Pgf , Pik3ca , Pik3r1 , Pld2 , Rheb , Tsc1 , Tsc2 , Vegfa , Vegfc Renal Cell Carcinoma 1 Mtor , Nras , Pik3ca , Rheb renal fibrosis Mapk1 , Ppargc1a renal hypomagnesemia 7, with or without dilated cardiomyopathy Rragd renal oncocytoma Flcn renal Wilms' tumor Vegfa Reperfusion Injury Akt1 , Akt1s1 , Ccne1 , Eef2 , Hif1a , Igf1 , Pik3r1 , Pld2 , Prkca , Vegfc , Vegfd respiratory allergy Vegfa Retina Reperfusion Injury Vegfa retinal detachment Bnip3 retinal disease Vegfa retinal ischemia Hif1a , Vegfa Retinal Neovascularization Hif1a , Mtor , Vegfa , Vegfb retinal telangiectasia Vegfa retinal vein occlusion Vegfa , Vegfb retinitis pigmentosa Vegfa retinitis pigmentosa 59 Rps6ka1 , Sfn retinopathy of prematurity Igf1 , Vegfa Rhabdomyolysis Ins2 rhabdomyosarcoma Hras , Vegfa rheumatic heart disease Igf1 rheumatoid arthritis Ddit4 , Hif1a , Pgf , Pik3r1 , Vegfa rhinitis Vegfa Rhinosinusitis Igf1 Right Ventricular Hypertrophy Akt1 , Igf1 , Mtor , Ppargc1a , Prkca , Slc7a5 , Vegfa Roifman-Chitayat Syndrome Pik3cd rosette-forming glioneuronal tumor Pik3ca Rotavirus Infections Pml Salivary Gland Neoplasms Hras sarcoma Pik3ca Sarcopenia Igf1 , Ppargc1a schizophrenia Akt1 , Eef2k , Fnip1 , Lpin1 , Mapk3 , Mtor , Nprl2 , Pik3cb , Pik3cd , Pml , Ppargc1a , Rb1cc1 , Rrn3 , Ulk3 , Ywhah , Ywhaz sciatic neuropathy Mtor , Ppargc1a sclerosing cholangitis Hif1a Seasonal Allergic Rhinitis Vegfa Sebaceous Nevus Syndrome and Hemimegalencephaly Hras , Nras seborrheic keratosis Pik3ca Segawa Syndrome, Autosomal Recessive Ins1 , Ins2 seminoma Hras , Vegfa Sengers syndrome Braf Senior-Loken syndrome Akt3 Senior-Loken Syndrome 7 Akt3 Sepsis Eif4e , Irs1 , Mapk1 , Mapk3 , Mtor , Pgf , Ppargc1a , Rac1 septic myocarditis Prkaa2 Septic Peritonitis Pik3r1 serous cystadenocarcinoma Sgk1 severe acute respiratory syndrome Igf1 , Mapk1 , Mapk3 severe combined immunodeficiency Ikbkb severe congenital neutropenia 3 Lamtor2 severe congenital neutropenia 5 Lamtor2 Sezary's disease Braf , Mapk1 , Rps6ka1 Shock Mapk1 , Mapk3 short chain acyl-CoA dehydrogenase deficiency Clip1 , Pxn SHORT syndrome Pik3r1 short-rib thoracic dysplasia 9 with or without polydactyly Mlst8 , Pdpk1 , Telo2 , Tsc2 , Wdr24 sickle cell anemia Pgf Silver-Russell Syndrome 1 Ins1 Silver-Russell Syndrome 3 Ins1 skin benign neoplasm Hras skin cancer Pml skin melanoma Akt1 , Braf , Hif1a , Hras , Map2k1 , Map2k2 , Mtor , Nras , Pdcd4 , Pik3ca , Pik3r1 , Rac1 , Raf1 , Stk11 Skin Neoplasms Akt1 , Hif1a , Hras , Igf1 , Vegfa Skull Fractures Igf1 Sleep Deprivation Eef2 Sleep Initiation and Maintenance Disorders Ppargc1a small cell carcinoma Mtor small intestine adenocarcinoma Map2k1 , Map2k2 Small-For-Size Syndrome Vegfa Smith-Kingsmore Syndrome Mtor , Pik3r1 , Pik3r2 Smith-Magenis syndrome Map2k2 , Srebf1 spastic ataxia Pik3r5 spermatocytoma Hras spermatogenic failure 57 Map2k1 Spinal Cord Injuries Akt1 , Akt1s1 , Bnip3 , Ccne1 , Hif1a , Mtor , Ppargc1a , Rhoa , Slc7a5 , Ulk1 , Vegfa spinal disease Tsc1 spinocerebellar ataxia type 19/22 Eef2 spinocerebellar ataxia type 26 Eef2 Splenic Neoplasms Hras Splenomegaly Nras spondylocostal dysostosis 5 Mapk3 Spontaneous Abortions Igf1 , Pgf Sporadic Creutzfeldt-Jakob Disease Ywhag Sporadic Papillary Renal Cell Carcinoma Braf , Hras , Mtor , Pik3ca , Rheb squamous cell carcinoma Akt1 , Hras , Mapk1 , Mapk3 , Pik3ca , Sfn , Stk11 , Tsc1 , Tsc2 , Vegfa Staphylococcal Pneumonia Akt1 status epilepticus Mtor , Pgf , Vegfa steatotic liver disease Akt1 , Cycs , Ins2 , Ppargc1a , Prkaa1 , Srebf1 Stevens-Johnson syndrome Pml stomach cancer Eef2 , Pik3ca , Rac1 , Rictor , Slc7a5 , Stk11 Stomach Neoplasms Bnip3 , Hras , Mapk1 , Mapk3 , Nras , Pik3ca , Prkaa1 , Rhoa , Rps6 Streptococcus pneumonia Pik3cd Stroke Akt1 , Igf1 , Pgf , Pik3ca , Prkaa2 , Vegfa Sturge-Weber syndrome Map2k1 Subarachnoid Hemorrhage Bnip3 , Hif1a , Pik3cb substance-induced psychosis Akt1 Sudden Hearing Loss Igf1 sudden infant death syndrome Depdc5 , Vegfa syndromic X-linked intellectual disability Lubs type Rps6ka3 , Rps6ka6 , RragB , Vegfd systemic lupus erythematosus Pgf , Ywhab systemic primary carnitine deficiency disease Fnip1 systemic scleroderma Vegfa T-cell acute lymphoblastic leukemia Mtor T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations Ywhab T-cell non-Hodgkin lymphoma Akt1 , Hras , Rhoa Tachycardia Ins2 Takotsubo Cardiomyopathy Ppargc1a temporal lobe epilepsy Mtor , Pgf , Vegfa Temporomandibular Joint Disorders Hif1a , Mtor Temporomandibular Joint Osteoarthritis Rps6 testicular cancer Stk11 testicular germ cell cancer Stk11 Testicular Germ Cell Tumor Stk11 Testis Reperfusion Injury Hif1a , Mapk1 , Mapk3 tethered spinal cord syndrome Braf Thinness Igf1 thrombocytopenia Cycs Thrombocytopenia 4 Cycs thrombosis Pik3cb Thrombotic Microangiopathies Vegfa thymoma Hras thyroid cancer Mapk1 Thyroid Neoplasms Akt1 , Akt2 , Braf , Hif1a , Hras , Mapk1 , Nras , Pik3ca Tibial Fractures Pgf Tobacco Use Disorder Rptor tongue cancer Rictor Tongue Neoplasms Hras , Igf1 , Vegfa , Vegfc tongue squamous cell carcinoma Slc7a5 tooth disease Rhoa torsion dystonia 6 Ikbkb toxic encephalopathy Mtor toxic shock syndrome Pik3cd transient cerebral ischemia Bnip3 , Cab39 , Cycs , Hif1a , Igf1 , Ikbkb , Mtor , Rps6 , Sgk1 transient neonatal diabetes mellitus Ins1 , Ins2 transitional cell carcinoma Akt1 , Braf , Hras , Map2k1 , Mapk1 , Mtor , Nras , Pik3ca , Rheb , Sfn , Slc7a5 Transplant Rejection Ikbkb Trichilemmoma Hras trichorhinophalangeal syndrome type I Deptor trigeminal neuralgia Mapk1 , Mapk3 Triple Negative Breast Neoplasms Cdk2 tuberous sclerosis Eif4ebp1 , Tsc1 , Tsc2 tuberous sclerosis 1 Tsc1 , Tsc2 tuberous sclerosis 2 Mlst8 , Telo2 , Tsc2 , Wdr24 Turner syndrome Igf1 Tympanic Membrane Perforation Vegfa type 1 diabetes mellitus Igf1 , Ins1 , Ins2 , Ppargc1a , Yy1 type 1 diabetes mellitus 2 Ins1 , Ins2 type 2 diabetes mellitus Akt1 , Akt2 , Braf , Hif1a , Igf1 , Ikbkb , Ins1 , Ins2 , Irs1 , Mapk1 , Mapk3 , Mtor , Pik3cb , Pik3r1 , Ppargc1a , Prkaa1 , Prkaa2 , Srebf1 , Vegfa Type 2 Diabetes Mellitus 1 Ins1 , Ins2 Ulcer Hif1a ulcerative colitis Vegfa Urban Schosser Spohn Syndrome Srebf1 uremia Sgk1 ureteral obstruction Akt1 , Mapk1 , Mapk3 , Mtor urethral obstruction Mapk1 urinary bladder cancer Akt1 , Ccne1 , Hif1a , Hras , Igf1 , Mtor , Pik3ca , Prkca , Rhoa , Sfn , Tsc1 , Vegfa , Vegfc , Vegfd Urinary Bladder Neoplasm Hras , Tsc1 Urinary Incontinence Mapk1 Urologic Neoplasms Hif1a , Rhoa , Vegfa uterine cancer Braf , Hras , Map2k1 , Mtor , Nras , Pik3ca , Pik3r1 , Rac1 , Rheb uterine carcinosarcoma Hras , Pik3ca , Pik3r1 Uterine Cervical Neoplasms Akt1 , Ccne1 , Cdk2 , Hras , Mapk1 , Mtor , Pik3ca , Vegfa , Yy1 uterine fibroid Irs1 , Tsc2 uveal melanoma Igf1 , Vegfa varicocele Hif1a vascular dementia Eif4e , Igf1 , Mapk1 , Mtor , Rps6 , Tsc2 vascular disease Ikbkb Vascular Malformations Braf , Hras , Map2k1 , Pik3ca , Pik3r1 velocardiofacial syndrome Mapk1 Venous Thrombosis Hif1a Ventilator-Induced Lung Injury Akt1 Ventricular Dysfunction, Left Ins1 , Ins2 , Pik3ca , Prkaa2 , Rac1 Ventricular Dysfunction, Right Ppargc1a Ventricular Fibrillation Ins2 Ventricular Outflow Obstruction Ins2 Ventricular Remodeling Akt1 , Hif1a , Vegfa ventricular septal defect Braf Ventricular Tachycardia Raf1 very long chain acyl-CoA dehydrogenase deficiency Eif4a1 vestibular schwannomatosis Vegfa Viral Myocarditis Srebf1 visceral leishmaniasis Pik3cd visual epilepsy Depdc5 , Pld1 , Pld2 , Ywhab , Ywhaz vitiligo Pik3r1 vulva cancer Akt1 vulva squamous cell carcinoma Sfn Wallerian Degeneration Pgf Weight Gain Pik3ca Weight Loss Ins1 , Ins2 Weissenbacher-Zweymuller syndrome Mapk1 Werner syndrome Hif1a West syndrome Tsc1 , Tsc2 withdrawal disorder Mapk1 , Mapk3 , Rhoa Wolff-Parkinson-White syndrome Fnip1 Wounds and Injuries Igf1 , Vegfa X-linked agammaglobulinemia Pik3r1 YOU-HOOVER-FONG SYNDROME Telo2 Zellweger syndrome Vegfa Zinc Deficiency Igf1