p70S6K Signaling

Pathway network for the p70S6K Signaling SuperPath

Sources:

QIAGEN

Pathways in the p70S6K Signaling SuperPath

#	Name	Source	Genes
1	p70S6K Signaling	QIAGEN	AKT1 ANGPTL6 AREG BAD BCAP31 BDNF BMP1 BMP10 BMP2 BMP3 BMP4 BMP5 BMP6 BMP7 BMP8A BTC CCN2 CD19 CLEC11A CLEC14A CREBBP CRIPTO CSF2RB CXCL12 DRC4 EEF2 EEF2K EGF EGFR F2 F2R F2RL1 FGF1 FGF10 FGF11 FGF12 FGF13 FGF14 FGF16 FGF17 FGF18 FGF19 FGF2 FGF20 FGF21 FGF22 FGF23 FGF4 FGF5 FGF6 FGF7 FGF8 FGFR1 FGFR2 FGFR3 FGFR4 FLT1 FLT4 GAB1 GAB2 GAB3 GAS1 GAS2 GAS6 GDF10 GDF15 GDF2 GDF5 GDF6 GDF9 GFER GH1 GH2 GHRH GLG1 GMFG GNA11 GNA12 GNA13 GNA14 GNA15 GNAI1 GNAI2 GNAI3 GNAS GNB1 GNB2 GNB3 GNB4 GNB5 GNG2 GNG3 GNG4 GNRH1 GNRH2 GPC6 GRB2 HBEGF HBG1 HBG2 HDGF HGF HRAS IGF1 IGF1R IGF2 IGF2-AS IGF2R IL2 IL2RA IL3 IL3RA IL4 IL4R IL6 IL9 INS INSR IRS1 JAK1 JAK2 KDR KIT KITLG KLF10 KRAS LEFTY1 LEFTY2 LHB LTBP1 LTBP2 LTBP3 LTBP4 LYN MAP2K1 MAP2K2 MAP2K3 MAP2K4 MAP2K5 MAP2K6 MAPK1 MAPK10 MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 MAPK4 MAPK6 MAPK7 MAPK8 MAPK9 MDK MET MRAS MTOR NGF NGFR NRAS NRG1 NRG2 NRG3 NRP1 NRP2 NTF3 NTF4 NTRK1 NTRK2 NTRK3 NUDT6 OGFR OGN PDGFA PDGFB PDGFC PDGFD PDGFRA PDGFRB PDPK1 PENK PGF PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 PLCG1 PLCG2 PLD1 PLPP3 PPBP PPP2CA PPP2CB PPP2R1A PPP2R1B PPP2R2A PPP2R2B PPP2R2C PPP2R3A PPP2R3B PPP2R5A PPP2R5B PPP2R5C PPP2R5D PPP2R5E PRKCA PRKCB PRKCD PRKCE PRKCG PRKCH PRKCI PRKCQ PRKCZ PRKD1 PRKD3 PROK1 PSIP1 PTN PTPA RAC1 RAC2 RAC3 RAF1 RPS6KB1 RRAS RRAS2 SEMA3A SEMA4B SEMA4G SEMA5A SOS1 SOS2 SPON1 SYK TBRG1 TGFA TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR3 THPO TIMP1 TIMP2 TIMP3 TIMP4 TYMP UTS2 VEGFB VEGFC VEGFD YWHAB YWHAE YWHAG YWHAH YWHAQ YWHAZ (see all 258) (see less)
2	Renin-Angiotensin Pathway	QIAGEN	ACE ADCY1 ADCY2 ADCY3 AGT AGTR1 AGTR2 ANGPTL6 AREG ATF2 BDNF BMP1 BMP10 BMP2 BMP3 BMP4 BMP5 BMP6 BMP7 BMP8A BTC CCL13 CCL2 CCL7 CCL8 CCN2 CHUK CLEC11A CLEC14A CRIPTO CXCL12 DRC4 EGFR ELK1 FGF1 FGF10 FGF11 FGF12 FGF13 FGF14 FGF16 FGF17 FGF18 FGF19 FGF2 FGF20 FGF21 FGF22 FGF23 FGF4 FGF5 FGF6 FGF7 FGF8 FGFR1 FGFR2 FGFR3 FGFR4 FLT1 FLT4 FOS GAS1 GAS2 GAS6 GDF10 GDF15 GDF2 GDF5 GDF6 GDF9 GFER GH1 GH2 GHRH GLG1 GMFG GNA11 GNRH1 GNRH2 GPC6 GRB2 HBEGF HDGF HGF HRAS IGF1 IGF1R IGF2 IGF2-AS IGF2R IKBKB IKBKE IKBKG IL2 IL2RA IL3 IL6 IL9 ITPR1 ITPR2 ITPR3 JAK2 JUN KDR KIT KITLG KLF10 KRAS LEFTY1 LEFTY2 LHB LTBP1 LTBP2 LTBP3 LTBP4 MAP2K4 MAP3K2 MAPK1 MAPK10 MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 MAPK8 MAPK9 MDK MET MRAS NFKB1 NGF NGFR NRAS NRG1 NRG2 NRG3 NRP1 NRP2 NTF3 NTF4 NTRK1 NTRK2 NTRK3 NUDT6 OGFR OGN PAK1 PAK2 PAK3 PAK4 PAK5 PAK6 PDGFA PDGFB PDGFC PDGFD PDGFRA PDGFRB PENK PGF PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 PLCG1 PLCG2 PLPP3 PPBP PPP1R10 PPP1R11 PPP1R12A PPP1R12B PPP1R12C PPP1R13B PPP1R14A PPP1R14B PPP1R15A PPP1R16A PPP1R1A PPP1R1B PPP1R2 PPP1R3A PPP1R3B PPP1R3C PPP1R3D PPP1R3F PPP1R7 PPP1R8 PPP1R9A PPP1R9B PPP2CA PPP2CB PPP2R1A PPP2R1B PPP2R2A PPP2R2B PPP2R2C PPP2R3A PPP2R3B PPP2R5A PPP2R5B PPP2R5C PPP2R5E PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B PRKCA PRKCB PRKCD PRKCE PRKCG PRKCH PRKCI PRKCQ PRKCZ PRKD1 PRKD3 PROK1 PSIP1 PTGIR PTGS2 PTK2 PTK2B PTN PTPA RAC1 RAF1 REN RRAS RRAS2 SEMA3A SEMA4B SEMA4G SEMA5A SOS1 SOS2 SPON1 STAT1 STAT3 TBRG1 TGFA TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR3 THPO TIMP1 TIMP2 TIMP3 TIMP4 TP53BP2 TYK2 TYMP UTS2 VCAM1 VEGFB VEGFC VEGFD (see all 264) (see less)
3	mTOR Pathway	QIAGEN	AKT1 ALK ANGPTL6 AREG AXL BDNF BMP1 BMP10 BMP2 BMP3 BMP4 BMP5 BMP6 BMP7 BMP8A BTC CCN2 CLEC11A CRIPTO CSF1R CXCL12 DDIT4 DDR1 DDR2 DGKZ DIRAS3 DRC4 EGF EIF3A EIF3B EIF3C EIF3D EIF3E EIF3F EIF3G EIF3H EIF3I EIF3J EIF4A1 EIF4A2 EIF4B EIF4E EIF4EBP1 EIF4G1 EIF4G2 EIF4G3 EPHA1 EPHA2 EPHA3 EPHA4 EPHA5 EPHA7 EPHA8 EPHB1 EPHB2 EPHB3 EPHB4 FGF1 FGF10 FGF11 FGF12 FGF13 FGF14 FGF16 FGF17 FGF18 FGF19 FGF2 FGF20 FGF21 FGF22 FGF23 FGF4 FGF5 FGF6 FGF7 FGF8 FKBP1A GAS1 GAS2 GAS6 GDF10 GDF15 GDF2 GDF5 GDF6 GDF9 GFER GH1 GH2 GHRH GMFG GNRH1 GNRH2 GPC6 GPLD1 HDGF HGF HIF1A HRAS IGF1 IGF2 IGF2-AS IL2 IL3 IL6 IL9 INS INSR IRS1 KITLG KLF10 KRAS LEFTY1 LEFTY2 LHB LTBP1 LTBP2 LTBP3 LTBP4 MAPK1 MAPK10 MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 MAPK4 MAPK6 MAPK7 MAPK8 MAPK9 MDK MLST8 MRAS MTOR NGF NRAS NRG1 NRG2 NRG3 NTF3 NTF4 NUDT6 OGN PDGFA PDGFB PDGFC PDGFD PDPK1 PENK PGF PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 PLD1 PLD2 PLD3 PLPP3 PPBP PPP2CA PPP2CB PPP2R1A PPP2R1B PPP2R2A PPP2R2B PPP2R2C PPP2R3A PPP2R3B PPP2R5A PPP2R5B PPP2R5C PPP2R5D PPP2R5E PRKAA2 PRKCA PRKCB PRKCD PRKCE PRKCG PRKCH PRKCI PRKCQ PRKCZ PRKD1 PRKD3 PROK1 PSIP1 PTN PTPA RAC1 RAC2 RAC3 RHEB RHOA RHOB RHOC RHOD RHOG RHOH RICTOR RND2 RND3 RPS6 RPS6KA1 RPS6KA2 RPS6KA3 RPS6KA4 RPS6KA6 RPS6KB1 RPTOR RRAS RRAS2 SEMA3A SEMA4B SEMA4G SEMA5A SPON1 STK11 TBRG1 TGFA TGFB1 TGFB2 TGFB3 THPO TIMP1 TIMP2 TIMP3 TIMP4 TSC1 TSC2 TYMP UTS2 VEGFB VEGFC VEGFD (see all 238) (see less)

Gene overlap in member pathways for p70S6K Signaling SuperPath

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	ANGPTL6	Angiopoietin Like 6	Protein Coding	3
2	AREG	Amphiregulin	Protein Coding	3
3	BDNF	Brain Derived Neurotrophic Factor	Protein Coding	3
4	BMP1	Bone Morphogenetic Protein 1	Protein Coding	3
5	BMP10	Bone Morphogenetic Protein 10	Protein Coding	3
6	BMP2	Bone Morphogenetic Protein 2	Protein Coding	3
7	BMP3	Bone Morphogenetic Protein 3	Protein Coding	3
8	BMP4	Bone Morphogenetic Protein 4	Protein Coding	3
9	BMP5	Bone Morphogenetic Protein 5	Protein Coding	3
10	BMP6	Bone Morphogenetic Protein 6	Protein Coding	3
11	BMP7	Bone Morphogenetic Protein 7	Protein Coding	3
12	BMP8A	Bone Morphogenetic Protein 8a	Protein Coding	3
13	BTC	Betacellulin	Protein Coding	3
14	CCN2	Cellular Communication Network Factor 2	Protein Coding	3
15	CXCL12	C-X-C Motif Chemokine Ligand 12	Protein Coding	3
16	LEFTY2	Left-Right Determination Factor 2	Protein Coding	3
17	TYMP	Thymidine Phosphorylase	Protein Coding	3
18	FGF1	Fibroblast Growth Factor 1	Protein Coding	3
19	FGF10	Fibroblast Growth Factor 10	Protein Coding	3
20	FGF11	Fibroblast Growth Factor 11	Protein Coding	3
21	FGF12	Fibroblast Growth Factor 12	Protein Coding	3
22	FGF13	Fibroblast Growth Factor 13	Protein Coding	3
23	FGF14	Fibroblast Growth Factor 14	Protein Coding	3
24	FGF16	Fibroblast Growth Factor 16	Protein Coding	3
25	FGF17	Fibroblast Growth Factor 17	Protein Coding	3
26	FGF18	Fibroblast Growth Factor 18	Protein Coding	3
27	FGF19	Fibroblast Growth Factor 19	Protein Coding	3
28	FGF2	Fibroblast Growth Factor 2	Protein Coding	3
29	FGF20	Fibroblast Growth Factor 20	Protein Coding	3
30	FGF21	Fibroblast Growth Factor 21	Protein Coding	3
31	FGF22	Fibroblast Growth Factor 22	Protein Coding	3
32	FGF23	Fibroblast Growth Factor 23	Protein Coding	3
33	FGF4	Fibroblast Growth Factor 4	Protein Coding	3
34	FGF5	Fibroblast Growth Factor 5	Protein Coding	3
35	FGF6	Fibroblast Growth Factor 6	Protein Coding	3
36	FGF7	Fibroblast Growth Factor 7	Protein Coding	3
37	FGF8	Fibroblast Growth Factor 8	Protein Coding	3
38	VEGFD	Vascular Endothelial Growth Factor D	Protein Coding	3
39	GAS1	Growth Arrest Specific 1	Protein Coding	3
40	GAS2	Growth Arrest Specific 2	Protein Coding	3
41	GAS6	Growth Arrest Specific 6	Protein Coding	3
42	DRC4	Dynein Regulatory Complex Subunit 4	Protein Coding	3
43	GDF10	Growth Differentiation Factor 10	Protein Coding	3
44	GDF2	Growth Differentiation Factor 2	Protein Coding	3
45	GDF5	Growth Differentiation Factor 5	Protein Coding	3
46	GDF6	Growth Differentiation Factor 6	Protein Coding	3
47	GDF9	Growth Differentiation Factor 9	Protein Coding	3
48	GFER	Growth Factor, Augmenter Of Liver Regeneration	Protein Coding	3
49	GH1	Growth Hormone 1	Protein Coding	3
50	GH2	Growth Hormone 2	Protein Coding	3
51	GHRH	Growth Hormone Releasing Hormone	Protein Coding	3
52	GMFG	Glia Maturation Factor Gamma	Protein Coding	3
53	GNRH1	Gonadotropin Releasing Hormone 1	Protein Coding	3
54	GNRH2	Gonadotropin Releasing Hormone 2	Protein Coding	3
55	GPC6	Glypican 6	Protein Coding	3
56	HDGF	Heparin Binding Growth Factor	Protein Coding	3
57	HGF	Hepatocyte Growth Factor	Protein Coding	3
58	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	3
59	IGF1	Insulin Like Growth Factor 1	Protein Coding	3
60	IGF2	Insulin Like Growth Factor 2	Protein Coding	3
61	IGF2-AS	IGF2 Antisense RNA	RNA Gene	3
62	IL2	Interleukin 2	Protein Coding	3
63	IL3	Interleukin 3	Protein Coding	3
64	IL6	Interleukin 6	Protein Coding	3
65	IL9	Interleukin 9	Protein Coding	3
66	KITLG	KIT Ligand	Protein Coding	3
67	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	3
68	LEFTY1	Left-Right Determination Factor 1	Protein Coding	3
69	LHB	Luteinizing Hormone Subunit Beta	Protein Coding	3
70	LTBP1	Latent Transforming Growth Factor Beta Binding Protein 1	Protein Coding	3
71	LTBP2	Latent Transforming Growth Factor Beta Binding Protein 2	Protein Coding	3
72	LTBP3	Latent Transforming Growth Factor Beta Binding Protein 3	Protein Coding	3
73	LTBP4	Latent Transforming Growth Factor Beta Binding Protein 4	Protein Coding	3
74	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	3
75	MAPK10	Mitogen-Activated Protein Kinase 10	Protein Coding	3
76	MAPK11	Mitogen-Activated Protein Kinase 11	Protein Coding	3
77	MAPK12	Mitogen-Activated Protein Kinase 12	Protein Coding	3
78	MAPK13	Mitogen-Activated Protein Kinase 13	Protein Coding	3
79	MAPK14	Mitogen-Activated Protein Kinase 14	Protein Coding	3
80	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	3
81	MAPK8	Mitogen-Activated Protein Kinase 8	Protein Coding	3
82	MAPK9	Mitogen-Activated Protein Kinase 9	Protein Coding	3
83	MDK	Midkine	Protein Coding	3
84	MRAS	Muscle RAS Oncogene Homolog	Protein Coding	3
85	NGF	Nerve Growth Factor	Protein Coding	3
86	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	3
87	NRG1	Neuregulin 1	Protein Coding	3
88	NRG2	Neuregulin 2	Protein Coding	3
89	NRG3	Neuregulin 3	Protein Coding	3
90	NTF3	Neurotrophin 3	Protein Coding	3
91	NTF4	Neurotrophin 4	Protein Coding	3
92	NUDT6	Nudix Hydrolase 6	Protein Coding	3
93	OGN	Osteoglycin	Protein Coding	3
94	PIK3R5	Phosphoinositide-3-Kinase Regulatory Subunit 5	Protein Coding	3
95	PDGFA	Platelet Derived Growth Factor Subunit A	Protein Coding	3
96	PDGFB	Platelet Derived Growth Factor Subunit B	Protein Coding	3
97	PDGFC	Platelet Derived Growth Factor C	Protein Coding	3
98	PENK	Proenkephalin	Protein Coding	3
99	PGF	Placental Growth Factor	Protein Coding	3
100	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	3
101	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	3
102	PIK3R3	Phosphoinositide-3-Kinase Regulatory Subunit 3	Protein Coding	3
103	PIK3R4	Phosphoinositide-3-Kinase Regulatory Subunit 4	Protein Coding	3
104	GDF15	Growth Differentiation Factor 15	Protein Coding	3
105	PLPP3	Phospholipid Phosphatase 3	Protein Coding	3
106	PPBP	Pro-Platelet Basic Protein	Protein Coding	3
107	PPP2CA	Protein Phosphatase 2 Catalytic Subunit Alpha	Protein Coding	3
108	PPP2CB	Protein Phosphatase 2 Catalytic Subunit Beta	Protein Coding	3
109	PPP2R1A	Protein Phosphatase 2 Scaffold Subunit Aalpha	Protein Coding	3
110	PPP2R1B	Protein Phosphatase 2 Scaffold Subunit Abeta	Protein Coding	3
111	PPP2R2A	Protein Phosphatase 2 Regulatory Subunit Balpha	Protein Coding	3
112	PPP2R2B	Protein Phosphatase 2 Regulatory Subunit Bbeta	Protein Coding	3
113	PPP2R2C	Protein Phosphatase 2 Regulatory Subunit Bgamma	Protein Coding	3
114	PPP2R3A	Protein Phosphatase 2 Regulatory Subunit B''''Alpha	Protein Coding	3
115	PTPA	Protein Phosphatase 2 Phosphatase Activator	Protein Coding	3
116	PPP2R5A	Protein Phosphatase 2 Regulatory Subunit B''Alpha	Protein Coding	3
117	PPP2R5B	Protein Phosphatase 2 Regulatory Subunit B''Beta	Protein Coding	3
118	PPP2R5C	Protein Phosphatase 2 Regulatory Subunit B''Gamma	Protein Coding	3
119	PPP2R5E	Protein Phosphatase 2 Regulatory Subunit B''Epsilon	Protein Coding	3
120	PPP2R3B	Protein Phosphatase 2 Regulatory Subunit B''''Beta~Name Same As:- HGNC:9310	Protein Coding	3
121	PRKCA	Protein Kinase C Alpha	Protein Coding	3
122	PRKCB	Protein Kinase C Beta	Protein Coding	3
123	PRKCD	Protein Kinase C Delta	Protein Coding	3
124	PRKCE	Protein Kinase C Epsilon	Protein Coding	3
125	PRKCG	Protein Kinase C Gamma	Protein Coding	3
126	PRKCH	Protein Kinase C Eta	Protein Coding	3
127	PRKCI	Protein Kinase C Iota	Protein Coding	3
128	PRKD1	Protein Kinase D1	Protein Coding	3
129	PRKD3	Protein Kinase D3	Protein Coding	3
130	PRKCQ	Protein Kinase C Theta	Protein Coding	3
131	PRKCZ	Protein Kinase C Zeta	Protein Coding	3
132	PROK1	Prokineticin 1	Protein Coding	3
133	PSIP1	PC4 And SRSF1 Interacting Protein 1	Protein Coding	3
134	PTN	Pleiotrophin	Protein Coding	3
135	RAC1	Rac Family Small GTPase 1	Protein Coding	3
136	RRAS	RAS Related	Protein Coding	3
137	RRAS2	RAS Related 2	Protein Coding	3
138	PDGFD	Platelet Derived Growth Factor D	Protein Coding	3
139	CLEC11A	C-Type Lectin Domain Containing 11A	Protein Coding	3
140	SEMA3A	Semaphorin 3A	Protein Coding	3
141	SEMA4B	Semaphorin 4B	Protein Coding	3
142	SEMA4G	Semaphorin 4G	Protein Coding	3
143	SEMA5A	Semaphorin 5A	Protein Coding	3
144	SPON1	Spondin 1	Protein Coding	3
145	TBRG1	Transforming Growth Factor Beta Regulator 1	Protein Coding	3
146	CRIPTO	Cripto, EGF-CFC Family Member	Protein Coding	3
147	TGFA	Transforming Growth Factor Alpha	Protein Coding	3
148	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	3
149	TGFB2	Transforming Growth Factor Beta 2	Protein Coding	3
150	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	3
151	THPO	Thrombopoietin	Protein Coding	3
152	KLF10	KLF Transcription Factor 10	Protein Coding	3
153	TIMP1	TIMP Metallopeptidase Inhibitor 1	Protein Coding	3
154	TIMP2	TIMP Metallopeptidase Inhibitor 2	Protein Coding	3
155	TIMP3	TIMP Metallopeptidase Inhibitor 3	Protein Coding	3
156	TIMP4	TIMP Metallopeptidase Inhibitor 4	Protein Coding	3
157	UTS2	Urotensin 2	Protein Coding	3
158	VEGFB	Vascular Endothelial Growth Factor B	Protein Coding	3
159	VEGFC	Vascular Endothelial Growth Factor C	Protein Coding	3
160	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	2
161	CLEC14A	C-Type Lectin Domain Containing 14A	Protein Coding	2
162	HBEGF	Heparin Binding EGF Like Growth Factor	Protein Coding	2
163	EGF	Epidermal Growth Factor	Protein Coding	2
164	EGFR	Epidermal Growth Factor Receptor	Protein Coding	2
165	FGFR1	Fibroblast Growth Factor Receptor 1	Protein Coding	2
166	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	2
167	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	2
168	FGFR4	Fibroblast Growth Factor Receptor 4	Protein Coding	2
169	FLT1	Fms Related Receptor Tyrosine Kinase 1	Protein Coding	2
170	FLT4	Fms Related Receptor Tyrosine Kinase 4	Protein Coding	2
171	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	2
172	GLG1	Golgi Glycoprotein 1	Protein Coding	2
173	GNA11	G Protein Subunit Alpha 11	Protein Coding	2
174	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	2
175	IGF1R	Insulin Like Growth Factor 1 Receptor	Protein Coding	2
176	IGF2R	Insulin Like Growth Factor 2 Receptor	Protein Coding	2
177	IL2RA	Interleukin 2 Receptor Subunit Alpha	Protein Coding	2
178	INS	Insulin	Protein Coding	2
179	INSR	Insulin Receptor	Protein Coding	2
180	IRS1	Insulin Receptor Substrate 1	Protein Coding	2
181	JAK2	Janus Kinase 2	Protein Coding	2
182	KDR	Kinase Insert Domain Receptor	Protein Coding	2
183	KIT	KIT Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	2
184	MAP2K4	Mitogen-Activated Protein Kinase Kinase 4	Protein Coding	2
185	MAPK4	Mitogen-Activated Protein Kinase 4	Protein Coding	2
186	MAPK6	Mitogen-Activated Protein Kinase 6	Protein Coding	2
187	MAPK7	Mitogen-Activated Protein Kinase 7	Protein Coding	2
188	MET	MET Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	2
189	NGFR	Nerve Growth Factor Receptor	Protein Coding	2
190	NRP1	Neuropilin 1	Protein Coding	2
191	NRP2	Neuropilin 2	Protein Coding	2
192	NTRK1	Neurotrophic Receptor Tyrosine Kinase 1	Protein Coding	2
193	NTRK2	Neurotrophic Receptor Tyrosine Kinase 2	Protein Coding	2
194	NTRK3	Neurotrophic Receptor Tyrosine Kinase 3	Protein Coding	2
195	OGFR	Opioid Growth Factor Receptor	Protein Coding	2
196	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	Protein Coding	2
197	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	2
198	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	2
199	PLCG1	Phospholipase C Gamma 1	Protein Coding	2
200	PLCG2	Phospholipase C Gamma 2	Protein Coding	2
201	PLD1	Phospholipase D1	Protein Coding	2
202	PPP2R5D	Protein Phosphatase 2 Regulatory Subunit B''Delta	Protein Coding	2
203	RAC2	Rac Family Small GTPase 2	Protein Coding	2
204	RAC3	Rac Family Small GTPase 3	Protein Coding	2
205	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	2
206	RPS6KB1	Ribosomal Protein S6 Kinase B1	Protein Coding	2
207	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	2
208	SOS2	SOS Ras/Rho Guanine Nucleotide Exchange Factor 2	Protein Coding	2
209	TGFBR1	Transforming Growth Factor Beta Receptor 1	Protein Coding	2
210	TGFBR3	Transforming Growth Factor Beta Receptor 3	Protein Coding	2
211	BAD	BCL2 Associated Agonist Of Cell Death	Protein Coding	1
212	CD19	CD19 Molecule	Protein Coding	1
213	CREBBP	CREB Binding Lysine Acetyltransferase	Protein Coding	1
214	CSF2RB	Colony Stimulating Factor 2 Receptor Subunit Beta	Protein Coding	1
215	BCAP31	B Cell Receptor Associated Protein 31	Protein Coding	1
216	EEF2	Eukaryotic Translation Elongation Factor 2	Protein Coding	1
217	EEF2K	Eukaryotic Elongation Factor 2 Kinase	Protein Coding	1
218	F2	Coagulation Factor II, Thrombin	Protein Coding	1
219	F2R	Coagulation Factor II Thrombin Receptor	Protein Coding	1
220	F2RL1	F2R Like Trypsin Receptor 1	Protein Coding	1
221	GAB1	GRB2 Associated Binding Protein 1	Protein Coding	1
222	GAB2	GRB2 Associated Binding Protein 2	Protein Coding	1
223	GAB3	GRB2 Associated Binding Protein 3	Protein Coding	1
224	GNA12	G Protein Subunit Alpha 12	Protein Coding	1
225	GNA13	G Protein Subunit Alpha 13	Protein Coding	1
226	GNA14	G Protein Subunit Alpha 14	Protein Coding	1
227	GNA15	G Protein Subunit Alpha 15	Protein Coding	1
228	GNAI1	G Protein Subunit Alpha I1	Protein Coding	1
229	GNAI2	G Protein Subunit Alpha I2	Protein Coding	1
230	GNAI3	G Protein Subunit Alpha I3	Protein Coding	1
231	GNAS	GNAS Complex Locus	Protein Coding	1
232	GNB1	G Protein Subunit Beta 1	Protein Coding	1
233	GNB2	G Protein Subunit Beta 2	Protein Coding	1
234	GNB3	G Protein Subunit Beta 3	Protein Coding	1
235	GNB4	G Protein Subunit Beta 4	Protein Coding	1
236	GNB5	G Protein Subunit Beta 5	Protein Coding	1
237	GNG2	G Protein Subunit Gamma 2	Protein Coding	1
238	GNG3	G Protein Subunit Gamma 3	Protein Coding	1
239	GNG4	G Protein Subunit Gamma 4	Protein Coding	1
240	HBG1	Hemoglobin Subunit Gamma 1	Protein Coding	1
241	HBG2	Hemoglobin Subunit Gamma 2	Protein Coding	1
242	IL3RA	Interleukin 3 Receptor Subunit Alpha	Protein Coding	1
243	IL4	Interleukin 4	Protein Coding	1
244	IL4R	Interleukin 4 Receptor	Protein Coding	1
245	JAK1	Janus Kinase 1	Protein Coding	1
246	LYN	LYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
247	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	1
248	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	1
249	MAP2K3	Mitogen-Activated Protein Kinase Kinase 3	Protein Coding	1
250	MAP2K5	Mitogen-Activated Protein Kinase Kinase 5	Protein Coding	1
251	MAP2K6	Mitogen-Activated Protein Kinase Kinase 6	Protein Coding	1
252	SYK	Spleen Associated Tyrosine Kinase	Protein Coding	1
253	YWHAB	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Beta	Protein Coding	1
254	YWHAE	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Epsilon	Protein Coding	1
255	YWHAG	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Gamma	Protein Coding	1
256	YWHAH	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Eta	Protein Coding	1
257	YWHAQ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Theta	Protein Coding	1
258	YWHAZ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Zeta	Protein Coding	1
259	ACE	Angiotensin I Converting Enzyme	Protein Coding	1
260	ADCY1	Adenylate Cyclase 1	Protein Coding	1
261	ADCY2	Adenylate Cyclase 2	Protein Coding	1
262	ADCY3	Adenylate Cyclase 3	Protein Coding	1
263	AGT	Angiotensinogen	Protein Coding	1
264	AGTR1	Angiotensin II Receptor Type 1	Protein Coding	1
265	AGTR2	Angiotensin II Receptor Type 2	Protein Coding	1
266	ATF2	Activating Transcription Factor 2	Protein Coding	1
267	CCL13	C-C Motif Chemokine Ligand 13	Protein Coding	1
268	CCL2	C-C Motif Chemokine Ligand 2	Protein Coding	1
269	CCL7	C-C Motif Chemokine Ligand 7	Protein Coding	1
270	CCL8	C-C Motif Chemokine Ligand 8	Protein Coding	1
271	CHUK	Component Of Inhibitor Of Nuclear Factor Kappa B Kinase Complex	Protein Coding	1
272	ELK1	ETS Transcription Factor ELK1	Protein Coding	1
273	FOS	Fos Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
274	IKBKB	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta	Protein Coding	1
275	IKBKE	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Epsilon	Protein Coding	1
276	IKBKG	Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma	Protein Coding	1
277	ITPR1	Inositol 1,4,5-Trisphosphate Receptor Type 1	Protein Coding	1
278	ITPR2	Inositol 1,4,5-Trisphosphate Receptor Type 2	Protein Coding	1
279	ITPR3	Inositol 1,4,5-Trisphosphate Receptor Type 3	Protein Coding	1
280	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
281	MAP3K2	Mitogen-Activated Protein Kinase Kinase Kinase 2	Protein Coding	1
282	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	1
283	PAK1	P21 (RAC1) Activated Kinase 1	Protein Coding	1
284	PAK2	P21 (RAC1) Activated Kinase 2	Protein Coding	1
285	PAK3	P21 (RAC1) Activated Kinase 3	Protein Coding	1
286	PAK4	P21 (RAC1) Activated Kinase 4	Protein Coding	1
287	PAK6	P21 (RAC1) Activated Kinase 6	Protein Coding	1
288	PAK5	P21 (RAC1) Activated Kinase 5	Protein Coding	1
289	PPP1R10	Protein Phosphatase 1 Regulatory Subunit 10	Protein Coding	1
290	PPP1R11	Protein Phosphatase 1 Regulatory Inhibitor Subunit 11	Protein Coding	1
291	PPP1R12A	Protein Phosphatase 1 Regulatory Subunit 12A	Protein Coding	1
292	PPP1R12B	Protein Phosphatase 1 Regulatory Subunit 12B	Protein Coding	1
293	PPP1R12C	Protein Phosphatase 1 Regulatory Subunit 12C	Protein Coding	1
294	PPP1R13B	Protein Phosphatase 1 Regulatory Subunit 13B	Protein Coding	1
295	PPP1R14A	Protein Phosphatase 1 Regulatory Inhibitor Subunit 14A	Protein Coding	1
296	PPP1R14B	Protein Phosphatase 1 Regulatory Inhibitor Subunit 14B	Protein Coding	1
297	PPP1R15A	Protein Phosphatase 1 Regulatory Subunit 15A	Protein Coding	1
298	PPP1R16A	Protein Phosphatase 1 Regulatory Subunit 16A	Protein Coding	1
299	PPP1R1A	Protein Phosphatase 1 Regulatory Inhibitor Subunit 1A	Protein Coding	1
300	PPP1R1B	Protein Phosphatase 1 Regulatory Inhibitor Subunit 1B	Protein Coding	1
301	PPP1R2	Protein Phosphatase 1 Regulatory Inhibitor Subunit 2	Protein Coding	1
302	PPP1R3A	Protein Phosphatase 1 Regulatory Subunit 3A	Protein Coding	1
303	PPP1R3B	Protein Phosphatase 1 Regulatory Subunit 3B	Protein Coding	1
304	PPP1R3C	Protein Phosphatase 1 Regulatory Subunit 3C	Protein Coding	1
305	PPP1R3D	Protein Phosphatase 1 Regulatory Subunit 3D	Protein Coding	1
306	PPP1R3F	Protein Phosphatase 1 Regulatory Subunit 3F	Protein Coding	1
307	PPP1R7	Protein Phosphatase 1 Regulatory Subunit 7	Protein Coding	1
308	PPP1R8	Protein Phosphatase 1 Regulatory Subunit 8	Protein Coding	1
309	PPP1R9A	Protein Phosphatase 1 Regulatory Subunit 9A	Protein Coding	1
310	PPP1R9B	Protein Phosphatase 1 Regulatory Subunit 9B	Protein Coding	1
311	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	1
312	PRKACB	Protein Kinase CAMP-Activated Catalytic Subunit Beta	Protein Coding	1
313	PRKACG	Protein Kinase CAMP-Activated Catalytic Subunit Gamma	Protein Coding	1
314	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	1
315	PRKAR1B	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Beta	Protein Coding	1
316	PRKAR2A	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Alpha	Protein Coding	1
317	PRKAR2B	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Beta	Protein Coding	1
318	PTGIR	Prostaglandin I2 Receptor	Protein Coding	1
319	PTGS2	Prostaglandin-Endoperoxide Synthase 2	Protein Coding	1
320	PTK2	Protein Tyrosine Kinase 2	Protein Coding	1
321	PTK2B	Protein Tyrosine Kinase 2 Beta	Protein Coding	1
322	REN	Renin	Protein Coding	1
323	STAT1	Signal Transducer And Activator Of Transcription 1	Protein Coding	1
324	STAT3	Signal Transducer And Activator Of Transcription 3	Protein Coding	1
325	TP53BP2	Tumor Protein P53 Binding Protein 2	Protein Coding	1
326	TYK2	Tyrosine Kinase 2	Protein Coding	1
327	VCAM1	Vascular Cell Adhesion Molecule 1	Protein Coding	1
328	ALK	ALK Receptor Tyrosine Kinase	Protein Coding	1
329	RHOA	Ras Homolog Family Member A	Protein Coding	1
330	RHOB	Ras Homolog Family Member B	Protein Coding	1
331	RHOC	Ras Homolog Family Member C	Protein Coding	1
332	RHOD	Ras Homolog Family Member D	Protein Coding	1
333	RND3	Rho Family GTPase 3	Protein Coding	1
334	RHOG	Ras Homolog Family Member G	Protein Coding	1
335	RHOH	Ras Homolog Family Member H	Protein Coding	1
336	DIRAS3	DIRAS Family GTPase 3	Protein Coding	1
337	RND2	Rho Family GTPase 2	Protein Coding	1
338	RICTOR	RPTOR Independent Companion Of MTOR Complex 2	Protein Coding	1
339	AXL	AXL Receptor Tyrosine Kinase	Protein Coding	1
340	CSF1R	Colony Stimulating Factor 1 Receptor	Protein Coding	1
341	DDIT4	DNA Damage Inducible Transcript 4	Protein Coding	1
342	DDR1	Discoidin Domain Receptor Tyrosine Kinase 1	Protein Coding	1
343	DDR2	Discoidin Domain Receptor Tyrosine Kinase 2	Protein Coding	1
344	DGKZ	Diacylglycerol Kinase Zeta	Protein Coding	1
345	EIF3J	Eukaryotic Translation Initiation Factor 3 Subunit J	Protein Coding	1
346	EIF3A	Eukaryotic Translation Initiation Factor 3 Subunit A	Protein Coding	1
347	EIF3I	Eukaryotic Translation Initiation Factor 3 Subunit I	Protein Coding	1
348	EIF3H	Eukaryotic Translation Initiation Factor 3 Subunit H	Protein Coding	1
349	EIF3G	Eukaryotic Translation Initiation Factor 3 Subunit G	Protein Coding	1
350	EIF3F	Eukaryotic Translation Initiation Factor 3 Subunit F	Protein Coding	1
351	EIF3E	Eukaryotic Translation Initiation Factor 3 Subunit E	Protein Coding	1
352	EIF3D	Eukaryotic Translation Initiation Factor 3 Subunit D	Protein Coding	1
353	EIF3C	Eukaryotic Translation Initiation Factor 3 Subunit C	Protein Coding	1
354	EIF3B	Eukaryotic Translation Initiation Factor 3 Subunit B	Protein Coding	1
355	EIF4A1	Eukaryotic Translation Initiation Factor 4A1	Protein Coding	1
356	EIF4A2	Eukaryotic Translation Initiation Factor 4A2	Protein Coding	1
357	EIF4B	Eukaryotic Translation Initiation Factor 4B	Protein Coding	1
358	EIF4E	Eukaryotic Translation Initiation Factor 4E	Protein Coding	1
359	EIF4EBP1	Eukaryotic Translation Initiation Factor 4E Binding Protein 1	Protein Coding	1
360	EIF4G1	Eukaryotic Translation Initiation Factor 4 Gamma 1	Protein Coding	1
361	EIF4G2	Eukaryotic Translation Initiation Factor 4 Gamma 2	Protein Coding	1
362	EIF4G3	Eukaryotic Translation Initiation Factor 4 Gamma 3	Protein Coding	1
363	EPHA1	EPH Receptor A1	Protein Coding	1
364	EPHA2	EPH Receptor A2	Protein Coding	1
365	EPHA3	EPH Receptor A3	Protein Coding	1
366	EPHA4	EPH Receptor A4	Protein Coding	1
367	EPHA5	EPH Receptor A5	Protein Coding	1
368	EPHA7	EPH Receptor A7	Protein Coding	1
369	EPHA8	EPH Receptor A8	Protein Coding	1
370	EPHB1	EPH Receptor B1	Protein Coding	1
371	EPHB2	EPH Receptor B2	Protein Coding	1
372	EPHB3	EPH Receptor B3	Protein Coding	1
373	EPHB4	EPH Receptor B4	Protein Coding	1
374	FKBP1A	FKBP Prolyl Isomerase 1A	Protein Coding	1
375	MLST8	MTOR Associated Protein MLST8	Protein Coding	1
376	GPLD1	Glycosylphosphatidylinositol Specific Phospholipase D1	Protein Coding	1
377	HIF1A	Hypoxia Inducible Factor 1 Subunit Alpha	Protein Coding	1
378	PLD2	Phospholipase D2	Protein Coding	1
379	PLD3	Phospholipase D Family Member 3	Protein Coding	1
380	PRKAA2	Protein Kinase AMP-Activated Catalytic Subunit Alpha 2	Protein Coding	1
381	RPTOR	Regulatory Associated Protein Of MTOR Complex 1	Protein Coding	1
382	RHEB	Ras Homolog, MTORC1 Binding	Protein Coding	1
383	RPS6	Ribosomal Protein S6	Protein Coding	1
384	RPS6KA1	Ribosomal Protein S6 Kinase A1	Protein Coding	1
385	RPS6KA2	Ribosomal Protein S6 Kinase A2	Protein Coding	1
386	RPS6KA3	Ribosomal Protein S6 Kinase A3	Protein Coding	1
387	RPS6KA4	Ribosomal Protein S6 Kinase A4	Protein Coding	1
388	RPS6KA6	Ribosomal Protein S6 Kinase A6	Protein Coding	1
389	STK11	Serine/Threonine Kinase 11	Protein Coding	1
390	TSC1	TSC Complex Subunit 1	Protein Coding	1
391	TSC2	TSC Complex Subunit 2	Protein Coding	1

Disorders associated with p70S6K Signaling SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Noonan syndrome 1	Enrichment	HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2, SOS1, SOS2	16.00
2	Rasopathy	Enrichment	HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS2, SOS1, SOS2	16.00
3	Noonan syndrome and noonan-related syndrome	Enrichment	HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1	8.33
4	Focal cortical dysplasia, type ii	Enrichment	MTOR, RHEB, TSC1, TSC2	7.03
5	Isolated focal cortical dysplasia type ii	Enrichment	MTOR, RHEB, TSC1, TSC2	7.03
6	Lung non-small cell carcinoma	Enrichment	EGFR, HRAS, KRAS, MAP2K1, NRAS	6.00
7	Renal tubular dysgenesis	Enrichment	ACE, AGT, AGTR1, REN	5.69
8	Nevus, epidermal	Enrichment	FGFR3, HRAS, KRAS, NRAS	5.37
9	Noonan syndrome 3	Enrichment	HRAS, KRAS, RAF1, SOS1	5.37
10	Pilomyxoid astrocytoma	Enrichment	FGFR1, KRAS, NTRK2, RAF1	5.37
11	Lacrimoauriculodentodigital syndrome 1	Enrichment	FGF10, FGFR2, FGFR3	5.17
12	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS, KRAS, NRAS	4.68
13	Cardiofaciocutaneous syndrome 1	Enrichment	KRAS, MAP2K1, MAP2K2	4.57
14	Cardiofaciocutaneous syndrome	Enrichment	KRAS, MAP2K1, MAP2K2	4.57
15	Primary hypereosinophilic syndrome	Enrichment	FGFR1, PDGFRA, PDGFRB	4.18
16	Testicular germ cell tumor	Enrichment	FGFR3, KIT, KITLG	3.88
17	Lung squamous cell carcinoma	Enrichment	EGFR, FGFR3, KRAS	3.88
18	Microform holoprosencephaly	Enrichment	CRIPTO, FGF8, FGFR1, GAS1	3.71
19	Lobar holoprosencephaly	Enrichment	CRIPTO, FGF8, FGFR1, GAS1	3.71
20	Differentiated thyroid carcinoma	Enrichment	HRAS, KRAS, NRAS, NTRK1, NTRK3	3.71
21	Melanocytic nevus syndrome, congenital	Enrichment	ALK, HRAS, NRAS	3.55
22	Lymphangioleiomyomatosis	Enrichment	TSC1, TSC2	3.51
23	Ras-associated autoimmune leukoproliferative disorder	Enrichment	KRAS, NRAS	3.51
24	Loeys-dietz syndrome 4	Enrichment	TGFB2, TGFB3	3.51
25	Semilobar holoprosencephaly	Enrichment	CRIPTO, FGF8, FGFR1, GAS1	3.50
26	Normosmic congenital hypogonadotropic hypogonadism	Enrichment	FGF17, FGF8, FGFR1, GNRH1	3.50
27	Pfeiffer syndrome	Enrichment	FGFR1, FGFR2	3.44
28	Jackson-weiss syndrome	Enrichment	FGFR1, FGFR2	3.44
29	Encephalocraniocutaneous lipomatosis	Enrichment	FGFR1, KRAS	3.44
30	Angioma, tufted	Enrichment	GNA14, KDR	3.44
31	Arteriovenous malformations of the brain	Enrichment	EGFR, IL6, KRAS, TIMP3	3.40
32	Adult hepatocellular carcinoma	Enrichment	EGF, TSC1, TSC2	3.38
33	Loeys-dietz syndrome	Enrichment	TGFB2, TGFB3, TGFBR1	3.28
34	Ovarian cancer	Enrichment	AKT1, EGFR, KIT, KRAS, MET, NTRK1, PDGFRA, RRAS2	3.17
35	Marfan syndrome	Enrichment	LTBP2, TGFB2, TGFBR1	3.13
36	Kallmann syndrome	Enrichment	FGF17, FGF8, FGFR1, SEMA3A	3.07
37	Tuberous sclerosis 1	Enrichment	TSC1, TSC2	3.04
38	Large congenital melanocytic nevus	Enrichment	HRAS, NRAS	3.04
39	Hamartoma	Enrichment	TSC1, TSC2	3.04
40	Juvenile myelomonocytic leukemia	Enrichment	KRAS, NRAS, RRAS	2.98
41	Crouzon syndrome	Enrichment	FGFR2, FGFR3	2.97
42	Langerhans cell histiocytosis	Enrichment	MAP2K1, NRAS	2.97
43	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	GNA11, PIK3R1	2.97
44	Breast implant-associated anaplastic large cell lymphoma	Enrichment	JAK1, JAK2	2.97
45	Testicular germ cell cancer	Enrichment	FGFR3, KIT	2.97
46	Spermatocytoma	Enrichment	FGFR3, HRAS	2.97
47	Anastomosing haemangioma	Enrichment	GNA11, GNA14	2.97
48	Lip and oral cavity carcinoma	Enrichment	EGFR, HRAS, KIT	2.88
49	Colorectal cancer	Enrichment	AKT1, FGFR2, FGFR3, IGF2, MET, NRAS, PIK3R1	2.88
50	Brachydactyly, type a2	Enrichment	BMP2, GDF5	2.75
51	Multiple synostoses syndrome	Enrichment	GDF5, GDF6	2.75
52	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	KRAS, NRAS	2.75
53	Tuberous sclerosis	Enrichment	TSC1, TSC2	2.75
54	Septopreoptic holoprosencephaly	Enrichment	CRIPTO, FGF8, GAS1	2.68
55	Midline interhemispheric variant of holoprosencephaly	Enrichment	CRIPTO, FGF8, GAS1	2.68
56	Bladder cancer	Enrichment	EGFR, FGFR3, HRAS, KRAS	2.68
57	Saethre-chotzen syndrome	Enrichment	FGFR2, FGFR3	2.68
58	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	Enrichment	HBG1, HBG2	2.68
59	Glioma	Enrichment	FGFR2, NTRK3	2.68
60	Lung cancer susceptibility 3	Enrichment	EGFR, FGF10, KRAS	2.67
61	Ventricular septal defect 1	Enrichment	BMP2, BMP7	2.53
62	Hemimegalencephaly	Enrichment	MTOR, RHEB	2.53
63	Alobar holoprosencephaly	Enrichment	CRIPTO, FGF8, GAS1	2.52
64	Lung cancer	Enrichment	EGFR, KRAS, MET, PPP2R1B	2.52
65	Gliosarcoma	Enrichment	EGFR, FGFR1, FGFR3	2.50
66	Hemifacial hyperplasia	Enrichment	FGFR2, FGFR3	2.46
67	Insulin-like growth factor i	Enrichment	IGF1, IGF1R	2.46
68	Holoprosencephaly	Enrichment	FGF8, FGFR1	2.46
69	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	Enrichment	HBG1, HBG2	2.46
70	Familial cerebral saccular aneurysm	Enrichment	ANGPTL6, TGFBR3	2.46
71	Giant cell glioblastoma	Enrichment	EGFR, FGFR1, FGFR3	2.42
72	Atrial septal defect 1	Enrichment	BMP2, TGFB2	2.36
73	Hemihyperplasia, isolated	Enrichment	IGF2, RHOA	2.36
74	Type 1 diabetes mellitus	Enrichment	IL6, INS	2.36
75	Breast adenocarcinoma	Enrichment	AKT1, KRAS	2.36
76	Holoprosencephaly 1	Enrichment	FGF8, FGFR1	2.29
77	Hemangioma, capillary infantile	Enrichment	FLT4, KDR	2.29
78	46,xy disorder of sex development	Enrichment	FGFR3, INSR	2.29
79	Primary ovarian insufficiency	Enrichment	BMP6, IGF2R, JAK2, KDR, NTRK1	2.28
80	Thyroid cancer, nonmedullary, 2	Enrichment	HRAS, NRAS	2.22
81	Capillary malformation-arteriovenous malformation 1	Enrichment	EPHB4, KRAS	2.22
82	Leukemia, chronic myeloid	Enrichment	KRAS, NRAS	2.22
83	Follicular thyroid carcinoma	Enrichment	HRAS, NRAS	2.22
84	Overgrowth syndrome	Enrichment	MTOR, PIK3R1	2.22
85	Leukemia, acute myeloid	Enrichment	JAK2, KIT, KRAS, NRAS	2.17
86	Gastrointestinal stromal tumor	Enrichment	KIT, PDGFRA	2.15
87	Renal cell carcinoma, papillary, 1	Enrichment	MET, MTOR	2.15
88	Neuropathy, hereditary sensory and autonomic, type v	Enrichment	NGF, NTRK1	2.15
89	Essential thrombocythemia	Enrichment	JAK2, THPO	2.15
90	Hemochromatosis, type 1	Enrichment	BMP2, BMP6	2.10
91	Fetal hemoglobin quantitative trait locus 1	Enrichment	HBG1, HBG2	2.03
92	Basal ganglia calcification, idiopathic, 1	Enrichment	PDGFB, PDGFRB	2.03
93	Inflammatory bowel disease 1	Enrichment	IL6, PRKCQ	1.99
94	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	EIF3F, RAC1	1.99
95	Arteriovenous malformation	Enrichment	EPHB4, HRAS	1.99
96	Ellis-van creveld syndrome	Enrichment	PRKACA, PRKACB	1.91
97	Myopathy, x-linked, with excessive autophagy	Enrichment	EPHB4, HRAS	1.90
98	Stroke, ischemic	Enrichment	F2, PRKCH	1.83
99	Specific learning disability	Enrichment	MAPK1, RPS6KA3	1.82
100	Non-immune hydrops fetalis	Enrichment	EPHB4, HRAS, KRAS	1.78
101	Lymphatic malformation 5	Enrichment	EPHB4	1.76
102	Proteus syndrome	Enrichment	AKT1	1.76
103	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	Enrichment	LTBP2	1.76
104	Donohue syndrome	Enrichment	INSR	1.76
105	Spinocerebellar ataxia 27a	Enrichment	FGF14	1.76
106	Coffin-lowry syndrome	Enrichment	RPS6KA3	1.76
107	Oculoectodermal syndrome	Enrichment	KRAS	1.76
108	Hyperinsulinemic hypoglycemia, familial, 5	Enrichment	INSR	1.76
109	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	Enrichment	INSR	1.76
110	Hypomagnesemia 4, renal	Enrichment	EGF	1.76
111	Glaucoma 3, primary congenital, d	Enrichment	LTBP2	1.76
112	Diabetes mellitus, insulin-resistant, with acanthosis nigricans	Enrichment	INSR	1.76
113	Microphthalmia, isolated 4	Enrichment	GDF6	1.76
114	Angel-shaped phalangoepiphyseal dysplasia	Enrichment	GDF5	1.76
115	Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis	Enrichment	RAC2	1.76
116	Deafness, autosomal recessive 39	Enrichment	HGF	1.76
117	Spinocerebellar ataxia 12	Enrichment	PPP2R2B	1.76
118	Neuroblastoma 3	Enrichment	ALK	1.76
119	Basal ganglia calcification, idiopathic, 5	Enrichment	PDGFB	1.76
120	Hyperpigmentation with or without hypopigmentation, familial progressive	Enrichment	KITLG	1.76
121	Cardiac valvular dysplasia 1	Enrichment	PLD1	1.76
122	Parkinson disease 18, autosomal dominant	Enrichment	EIF4G1	1.76
123	Melanosis, neurocutaneous	Enrichment	NRAS	1.76
124	Noonan syndrome 6	Enrichment	NRAS	1.76
125	Hypogonadotropic hypogonadism 20 with or without anosmia	Enrichment	FGF17	1.76
126	Ciliary dyskinesia, primary, 33	Enrichment	DRC4	1.76
127	Ataxia-oculomotor apraxia 3	Enrichment	PIK3R5	1.76
128	Hypogonadotropic hypogonadism 23 with or without anosmia	Enrichment	LHB	1.76
129	Aplasia of lacrimal and salivary glands	Enrichment	FGF10	1.76
130	Autoimmune lymphoproliferative syndrome, type iii	Enrichment	PRKCD	1.76
131	Weill-marchesani syndrome 3	Enrichment	LTBP2	1.76
132	Noonan syndrome 11	Enrichment	MRAS	1.76
133	Noonan syndrome 13	Enrichment	MAPK1	1.76
134	Multiple synostoses syndrome 4	Enrichment	GDF6	1.76
135	Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development	Enrichment	PTPA	1.76
136	Intellectual developmental disorder, x-linked 110	Enrichment	FGF13	1.76
137	Spinocerebellar ataxia 27b, late-onset	Enrichment	FGF14	1.76
138	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	Enrichment	RAC3	1.76
139	Hyperemesis gravidarum	Enrichment	GDF15	1.76
140	Amegakaryocytic thrombocytopenia, congenital, 2	Enrichment	THPO	1.76
141	Deafness, autosomal recessive 125	Enrichment	GAS2	1.76
142	Short syndrome	Enrichment	PIK3R1	1.76
143	Houge-janssens syndrome 4	Enrichment	PPP2R5C	1.76
144	Hereditary lymphedema id	Enrichment	VEGFC	1.76
145	Microphthalmia, syndromic 6	Enrichment	BMP4	1.76
146	Spondylometaepiphyseal dysplasia, short limb-hand type	Enrichment	DDR2	1.76
147	Autism 19	Enrichment	EIF4E	1.76
148	Intellectual developmental disorder, x-linked 19	Enrichment	RPS6KA3	1.76
149	Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	Enrichment	RAC2	1.76
150	Developmental and epileptic encephalopathy 90	Enrichment	FGF13	1.76
151	Orofacial cleft 11	Enrichment	BMP4	1.76
152	Metacarpal 4-5 fusion	Enrichment	FGF16	1.76
153	Lymphatic malformation 4	Enrichment	VEGFC	1.76
154	Lacrimoauriculodentodigital syndrome 3	Enrichment	FGF10	1.76
155	Familial isolated trichomegaly	Enrichment	FGF5	1.76
156	Cardiofaciocutaneous syndrome 2	Enrichment	KRAS	1.76
157	Houge-janssens syndrome 2	Enrichment	PPP2R1A	1.76
158	Prostate cancer/brain cancer susceptibility	Enrichment	EPHB2	1.76
159	Skin/hair/eye pigmentation, variation in, 7	Enrichment	KITLG	1.76
160	Camurati-engelmann disease 2	Enrichment	TGFB2	1.76
161	Geleophysic dysplasia 3	Enrichment	LTBP3	1.76
162	Spinocerebellar ataxia 14	Enrichment	PRKCG	1.76
163	Glaucoma 1, open angle, o	Enrichment	NTF4	1.76
164	Iron overload	Enrichment	BMP6	1.76
165	Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures	Enrichment	EIF4A2	1.76
166	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	1.76
167	Hypogonadotropic hypogonadism 12 with or without anosmia	Enrichment	GNRH1	1.76
168	Hypogonadotropic hypogonadism 16 with or without anosmia	Enrichment	SEMA3A	1.76
169	Leber congenital amaurosis 17	Enrichment	GDF6	1.76
170	Cowden syndrome 6	Enrichment	AKT1	1.76
171	Telangiectasia, hereditary hemorrhagic, type 5	Enrichment	GDF2	1.76
172	Hereditary thrombocytosis with transverse limb defect	Enrichment	THPO	1.76
173	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	1.76
174	Hypogonadotropic hypogonadism 6 with or without anosmia	Enrichment	FGF8	1.76
175	Congenital heart defects and ectodermal dysplasia	Enrichment	PRKD1	1.76
176	Tumoral calcinosis, hyperphosphatemic, familial, 2	Enrichment	FGF23	1.76
177	Loeys-dietz syndrome 5	Enrichment	TGFB3	1.76
178	Renal hypodysplasia/aplasia 2	Enrichment	FGF20	1.76
179	Bleeding disorder, platelet-type, 22	Enrichment	EPHB2	1.76
180	20p12.3 microdeletion syndrome	Enrichment	BMP2	1.76
181	Cutis laxa, autosomal recessive, type iie	Enrichment	LTBP1	1.76
182	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	Enrichment	RHOA	1.76
183	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	Enrichment	BMP2	1.76
184	Brain abnormalities, neurodegeneration, and dysosteosclerosis	Enrichment	CSF1R	1.76
185	Developmental and epileptic encephalopathy 47	Enrichment	FGF12	1.76
186	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	Enrichment	RHOA	1.76
187	Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	Enrichment	RAC2	1.76
188	Premature ovarian failure 14	Enrichment	GDF9	1.76
189	Warburg-cinotti syndrome	Enrichment	DDR2	1.76
190	Immunodeficiency 129	Enrichment	RHOH	1.76
191	Deafness, autosomal dominant 69	Enrichment	KITLG	1.76
192	Thrombocytopenia 9	Enrichment	THPO	1.76
193	Csf1r-related disorder	Enrichment	CSF1R	1.76
194	Short-rib thoracic dysplasia 22 without polydactyly	Enrichment	FGF4	1.76
195	Symptomatic form of coffin-lowry syndrome in female carriers	Enrichment	RPS6KA3	1.76
196	T-cell immunodeficiency with epidermodysplasia verruciformis	Enrichment	RHOH	1.76
197	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea	Enrichment	LTBP2	1.76
198	Congenital pulmonary airway malformation	Enrichment	KRAS	1.76
199	Alk-positive anaplastic large cell lymphoma	Enrichment	ALK	1.76
200	Spinocerebellar ataxia type 27b	Enrichment	FGF14	1.76
201	Infantile lad-like disease due to rac2 deficiency	Enrichment	RAC2	1.76
202	Reticular dysgenesis-like severe combined immunodeficiency	Enrichment	RAC2	1.76
203	Congenital primary lymphedema of gordon	Enrichment	VEGFC	1.76
204	Familial progressive hyperpigmentation	Enrichment	KITLG	1.76
205	Early-onset calcifying leukoencephalopathy-skeletal dysplasia	Enrichment	CSF1R	1.76
206	Phakomatosis pigmentokeratotica	Enrichment	HRAS	1.76
207	Ppp2r1a-related neurodevelopmental disorder	Enrichment	PPP2R1A	1.76
208	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	1.76
209	Malignant epithelial tumor of salivary glands	Enrichment	PRKD1	1.76
210	Intestinal polyposis syndrome	Enrichment	STK11	1.76
211	Alk-positive large b-cell lymphoma	Enrichment	ALK	1.76
212	Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome	Enrichment	RAC2	1.76
213	Egf-related primary hypomagnesemia with intellectual disability	Enrichment	EGF	1.76
214	Familial progressive hyper- and hypopigmentation	Enrichment	KITLG	1.76
215	Interstitial lung disease specific to childhood	Enrichment	FGF10	1.76
216	Ephb4-related lymphatic-related hydrops fetalis	Enrichment	EPHB4	1.76
217	Neurocutaneous melanocytosis	Enrichment	NRAS	1.76
218	Vein of galen aneurysmal malformation	Enrichment	EPHB4	1.76
219	Meningioma	Enrichment	AKT1, PDGFB	1.74
220	Hypochondroplasia	Enrichment	FGFR3	1.72
221	Beare-stevenson cutis gyrata syndrome	Enrichment	FGFR2	1.72
222	Hypocalciuric hypercalcemia, familial, type ii	Enrichment	GNA11	1.72
223	Osteoglophonic dysplasia	Enrichment	FGFR1	1.72
224	Thanatophoric dysplasia, type i	Enrichment	FGFR3	1.72
225	Trigonocephaly 1	Enrichment	FGFR1	1.72
226	Muenke syndrome	Enrichment	FGFR3	1.72
227	Premature aging syndrome, penttinen type	Enrichment	PDGFRB	1.72
228	Type 1 diabetes mellitus 10	Enrichment	IL2RA	1.72
229	Deafness, autosomal recessive 26	Enrichment	GAB1	1.72
230	Noonan syndrome 5	Enrichment	RAF1	1.72
231	Noonan syndrome 4	Enrichment	SOS1	1.72
232	Pseudohypoparathyroidism, type ic	Enrichment	GNAS	1.72
233	Hypereosinophilic syndrome, idiopathic	Enrichment	PDGFRA	1.72
234	Mastocytosis, cutaneous	Enrichment	KIT	1.72
235	Scaphocephaly, maxillary retrusion, and impaired intellectual development	Enrichment	FGFR2	1.72
236	Melorheostosis, isolated	Enrichment	MAP2K1	1.72
237	Osseous heteroplasia, progressive	Enrichment	GNAS	1.72
238	Prothrombin deficiency, congenital	Enrichment	F2	1.72
239	Apert syndrome	Enrichment	FGFR2	1.72
240	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	1.72
241	Multiple self-healing squamous epithelioma	Enrichment	TGFBR1	1.72
242	Cardiofaciocutaneous syndrome 3	Enrichment	MAP2K1	1.72
243	Myofibromatosis, infantile, 1	Enrichment	PDGFRB	1.72
244	Thanatophoric dysplasia, type ii	Enrichment	FGFR3	1.72
245	Noonan syndrome 9	Enrichment	SOS2	1.72
246	Gist-plus syndrome	Enrichment	PDGFRA	1.72
247	Camptodactyly, tall stature, and hearing loss syndrome	Enrichment	FGFR3	1.72
248	Bent bone dysplasia syndrome 1	Enrichment	FGFR2	1.72
249	Ventricular tachycardia, familial	Enrichment	GNAI2	1.72
250	Acth-independent macronodular adrenal hyperplasia 1	Enrichment	GNAS	1.72
251	Neurodevelopmental disorder with hypotonia and dysmorphic facies	Enrichment	GNB2	1.72
252	Immunodeficiency 82 with systemic inflammation	Enrichment	SYK	1.72
253	Developmental and epileptic encephalopathy 58	Enrichment	NTRK2	1.72
254	Pituitary adenoma 3, multiple types	Enrichment	GNAS	1.72
255	Immune dysregulation, autoimmunity, and autoinflammation	Enrichment	PLCG1	1.72
256	Osteofibrous dysplasia	Enrichment	MET	1.72
257	Deafness, dystonia, and cerebral hypomyelination	Enrichment	BCAP31	1.72
258	Myeloid and lymphoid neoplasms associated with pdgfra rearrangement	Enrichment	PDGFRA	1.72
259	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	Enrichment	GNAI1	1.72
260	Spinocerebellar ataxia 26	Enrichment	EEF2	1.72
261	Deafness, autosomal recessive 97	Enrichment	MET	1.72
262	Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia	Enrichment	GNB5	1.72
263	Crouzon syndrome with acanthosis nigricans	Enrichment	FGFR3	1.72
264	Melorheostosis	Enrichment	MAP2K1	1.72
265	Autism 9	Enrichment	MET	1.72
266	Leopard syndrome 2	Enrichment	RAF1	1.72
267	Surfactant metabolism dysfunction, pulmonary, 5	Enrichment	CSF2RB	1.72
268	Basal ganglia calcification, idiopathic, 4	Enrichment	PDGFRB	1.72
269	Cardiofaciocutaneous syndrome 4	Enrichment	MAP2K2	1.72
270	Autoinflammation, antibody deficiency, and immune dysregulation	Enrichment	PLCG2	1.72
271	Hypocalcemia, autosomal dominant 2	Enrichment	GNA11	1.72
272	Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement	Enrichment	PDGFRB	1.72
273	Immunodeficiency, common variable, 3	Enrichment	CD19	1.72
274	Charcot-marie-tooth disease, dominant intermediate f	Enrichment	GNB4	1.72
275	Obesity, hyperphagia, and developmental delay	Enrichment	NTRK2	1.72
276	Disorders of gnas inactivation	Enrichment	GNAS	1.72
277	Achondroplasia, severe, with developmental delay and acanthosis nigricans	Enrichment	FGFR3	1.72
278	Pregnancy loss, recurrent 2	Enrichment	F2	1.72
279	Kosaki overgrowth syndrome	Enrichment	PDGFRB	1.72
280	Familial cold autoinflammatory syndrome 3	Enrichment	PLCG2	1.72
281	Developmental and epileptic encephalopathy 56	Enrichment	YWHAG	1.72
282	Hartsfield syndrome	Enrichment	FGFR1	1.72
283	Congenital heart defects, multiple types, 7	Enrichment	FLT4	1.72
284	Intellectual developmental disorder, autosomal dominant 42	Enrichment	GNB1	1.72
285	Sick sinus syndrome 4	Enrichment	GNB2	1.72
286	Autoinflammatory disease, systemic, with vasculitis	Enrichment	LYN	1.72
287	Menke-hennekam syndrome 1	Enrichment	CREBBP	1.72
288	Ocular pterygium-digital keloid dysplasia syndrome	Enrichment	PDGFRB	1.72
289	Chronic mast cell leukemia	Enrichment	KIT	1.72
290	Trigonitis	Enrichment	RAF1	1.72
291	Tufted angioma of skin	Enrichment	KDR	1.72
292	Arthrogryposis, distal, type 11	Enrichment	MET	1.72
293	Lacrimoauriculodentodigital syndrome 2	Enrichment	FGFR3	1.72
294	Rubinstein-taybi syndrome due to 16p13.3 microdeletion	Enrichment	CREBBP	1.72
295	Colitis	Enrichment	SYK	1.72
296	Prothrombin deficiency	Enrichment	F2	1.72
297	Isolated bone marrow mastocytosis	Enrichment	KIT	1.72
298	Smoldering systemic mastocytosis	Enrichment	KIT	1.72
299	Fgfr3-related chondrodysplasia	Enrichment	FGFR3	1.72
300	Mastocytosis	Enrichment	KIT	1.72
301	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	Enrichment	FGFR3	1.72
302	Menke-hennekam syndrome	Enrichment	CREBBP	1.72
303	Cutaneous mastocytoma	Enrichment	KIT	1.72
304	Monostotic fibrous dysplasia	Enrichment	GNAS	1.72
305	Typical urticaria pigmentosa	Enrichment	KIT	1.72
306	Nodular urticaria pigmentosa	Enrichment	KIT	1.72
307	Phakomatosis cesiomarmorata	Enrichment	GNA11	1.72
308	Hartsfield-bixler-demyer syndrome	Enrichment	FGFR1	1.72
309	Pseudoxanthomatous diffuse cutaneous mastocytosis	Enrichment	KIT	1.72
310	Kaposiform hemangioendothelioma	Enrichment	GNA14	1.72
311	Telangiectasia macularis eruptiva perstans	Enrichment	KIT	1.72
312	Acute mast cell leukemia	Enrichment	KIT	1.72
313	Mazabraud syndrome	Enrichment	GNAS	1.72
314	Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency	Enrichment	JAK1	1.72
315	Distal 17p13.3 microdeletion syndrome	Enrichment	YWHAE	1.72
316	Non-syndromic unicoronal craniosynostosis	Enrichment	FGFR2	1.72
317	Hemoglobinopathy toms river	Enrichment	HBG2	1.72
318	Plaque-form urticaria pigmentosa	Enrichment	KIT	1.72
319	Bullous diffuse cutaneous mastocytosis	Enrichment	KIT	1.72
320	Testis seminoma	Enrichment	KIT	1.72
321	Anhidrosis, isolated, with normal sweat glands	Enrichment	ITPR2	1.71
322	Acrodysostosis 1 with or without hormone resistance	Enrichment	PRKAR1A	1.71
323	Intellectual developmental disorder, x-linked 30	Enrichment	PAK3	1.71
324	Incontinentia pigmenti	Enrichment	IKBKG	1.71
325	Autoinflammatory disease, systemic, x-linked	Enrichment	IKBKG	1.71
326	Immunodeficiency 35	Enrichment	TYK2	1.71
327	Carney complex, type 1	Enrichment	PRKAR1A	1.71
328	Fetal encasement syndrome	Enrichment	CHUK	1.71
329	Deafness, autosomal recessive 44	Enrichment	ADCY1	1.71
330	Microvascular complications of diabetes 3	Enrichment	ACE	1.71
331	Immunodeficiency 15b	Enrichment	IKBKB	1.71
332	Immunodeficiency 15a	Enrichment	IKBKB	1.71
333	Charcot-marie-tooth disease, demyelinating, type 1j	Enrichment	ITPR3	1.71
334	Knobloch syndrome 2	Enrichment	PAK2	1.71
335	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	Enrichment	PAK1	1.71
336	Ectodermal dysplasia and immunodeficiency 1	Enrichment	IKBKG	1.71
337	Cardioacrofacial dysplasia 2	Enrichment	PRKACB	1.71
338	T-cell large granular lymphocyte leukemia	Enrichment	STAT3	1.71
339	Myxoma, intracardiac	Enrichment	PRKAR1A	1.71
340	Immunodeficiency 31a	Enrichment	STAT1	1.71
341	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	1.71
342	Immunodeficiency 31b	Enrichment	STAT1	1.71
343	Autoimmune disease, multisystem, infantile-onset, 1	Enrichment	STAT3	1.71
344	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	1.71
345	Bartsocas-papas syndrome 2	Enrichment	CHUK	1.71
346	Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy	Enrichment	ITPR3	1.71
347	Prkar1b-related neurodegenerative dementia with intermediate filaments	Enrichment	PRKAR1B	1.71
348	Stat3-related early-onset multisystem autoimmune disease	Enrichment	STAT3	1.71
349	Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency	Enrichment	CHUK	1.71
350	Chronic lymphoproliferative disorder of natural killer cells	Enrichment	STAT3	1.71
351	Renal hypodysplasia/aplasia 3	Enrichment	BMP4, FGFR3	1.68
352	Myeloma, multiple	Enrichment	CREBBP, FGFR3, KRAS, PIK3R2	1.66
353	Acute promyelocytic leukemia	Enrichment	PRKAR1A, STAT3	1.59
354	Cleft lip/palate	Enrichment	BMP4, PDGFRA	1.55
355	Rhabdomyosarcoma	Enrichment	ALK, HRAS	1.50
356	Renal cell carcinoma, nonpapillary	Enrichment	MET, MTOR	1.49
357	Hydrocephalus	Enrichment	FGFR2, PDGFRB	1.49
358	Rare genetic intellectual disability	Enrichment	CREBBP, MTOR	1.49
359	Acromicric dysplasia	Enrichment	LTBP3	1.46
360	Cri-du-chat syndrome	Enrichment	SEMA5A	1.46
361	Lymphatic malformation 1	Enrichment	EPHB4	1.46
362	Peutz-jeghers syndrome	Enrichment	STK11	1.46
363	Sorsby fundus dystrophy	Enrichment	TIMP3	1.46
364	Scoliosis, isolated 1	Enrichment	MAPK7	1.46
365	Camurati-engelmann disease 1	Enrichment	TGFB1	1.46
366	Costello syndrome	Enrichment	HRAS	1.46
367	Trichomegaly	Enrichment	FGF5	1.46
368	Intracranial hypertension, idiopathic	Enrichment	EPHB4	1.46
369	Kyphomelic dysplasia	Enrichment	CCN2	1.46
370	Omodysplasia 1	Enrichment	GPC6	1.46
371	Pulmonary hypoplasia, primary	Enrichment	FGF10	1.46
372	Dermatofibrosarcoma protuberans	Enrichment	PDGFB	1.46
373	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Enrichment	PIK3R5	1.46
374	Parkinson disease 8, autosomal dominant	Enrichment	GDF6	1.46
375	Hyperinsulinemic hypoglycemia, familial, 4	Enrichment	INSR	1.46
376	Charcot-marie-tooth disease, demyelinating, type 4f	Enrichment	PLD3	1.46
377	Multiple synostoses syndrome 2	Enrichment	GDF5	1.46
378	Myopathy, mitochondrial progressive, with congenital cataract and developmental delay	Enrichment	GFER	1.46
379	Cutis laxa, autosomal recessive, type ic	Enrichment	LTBP4	1.46
380	Silver-russell syndrome 3	Enrichment	IGF2	1.46
381	Osteogenesis imperfecta, type xiii	Enrichment	BMP1	1.46
382	Maturity-onset diabetes of the young, type 10	Enrichment	INS	1.46
383	Brachydactyly, type a1, c	Enrichment	GDF5	1.46
384	Symphalangism, proximal, 1b	Enrichment	GDF5	1.46
385	Houge-janssens syndrome 1	Enrichment	PPP2R5D	1.46
386	Intellectual developmental disorder, autosomal recessive 67	Enrichment	EIF3F	1.46
387	Spondyloepimetaphyseal dysplasia, li-shao-li type	Enrichment	CCN2	1.46
388	Waardenburg syndrome, type 2f	Enrichment	KITLG	1.46
389	Hyperproinsulinemia	Enrichment	INS	1.46
390	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	1.46
391	Noonan syndrome 12	Enrichment	RRAS2	1.46
392	Cebalid syndrome	Enrichment	MTOR	1.46
393	Inflammatory bowel disease, immunodeficiency, and encephalopathy	Enrichment	TGFB1	1.46
394	Kowarski syndrome	Enrichment	GH1	1.46
395	Spinocerebellar ataxia 46	Enrichment	PLD3	1.46
396	Camurati-engelmann disease	Enrichment	TGFB1	1.46
397	Microphthalmia/coloboma 6	Enrichment	GDF6	1.46
398	Diabetes mellitus, permanent neonatal, 4	Enrichment	INS	1.46
399	Proximal symphalangism	Enrichment	GDF5	1.46
400	Smith-kingsmore syndrome	Enrichment	MTOR	1.46
401	Hereditary lymphedema i	Enrichment	EPHB4	1.46
402	Craniosynostosis 7	Enrichment	BMP2	1.46
403	Congenital amegakaryocytic thrombocytopenia	Enrichment	THPO	1.46
404	Houge-janssens syndrome 3	Enrichment	PPP2CA	1.46
405	Short stature due to growth hormone qualitative anomaly	Enrichment	GH1	1.46
406	Charcot-marie-tooth disease type 4f	Enrichment	PLD3	1.46
407	Growth delay due to insulin-like growth factor type 1 deficiency	Enrichment	IGF1	1.46
408	Silver-russell syndrome due to an imprinting defect of 11p15	Enrichment	IGF2	1.46
409	Wooly hair nevus	Enrichment	HRAS	1.46
410	Silver-russell syndrome due to 11p15 microduplication	Enrichment	IGF2	1.46
411	Type 2 diabetes mellitus	Enrichment	IL6, INSR, IRS1	1.43
412	Cerebral palsy	Enrichment	F2, GNB1, PDGFRB	1.42
413	Myeloproliferative disorder, chronic, with eosinophilia	Enrichment	PDGFRB	1.42
414	Fibromatosis, gingival, 1	Enrichment	SOS1	1.42
415	Pseudohypoparathyroidism, type ia	Enrichment	GNAS	1.42
416	Insensitivity to pain, congenital, with anhidrosis	Enrichment	NTRK1	1.42
417	Pituitary adenoma 4, acth-secreting	Enrichment	GNAI2	1.42
418	Cutis marmorata telangiectatica congenita	Enrichment	GNA11	1.42
419	Thumb deformity	Enrichment	CREBBP	1.42
420	Cervical cancer	Enrichment	FGFR3	1.42
421	Pulmonic stenosis	Enrichment	SOS1	1.42
422	Immunodeficiency 41 with lymphoproliferation and autoimmunity	Enrichment	IL2RA	1.42
423	Loeys-dietz syndrome 2	Enrichment	TGFBR1	1.42
424	Pigmented nodular adrenocortical disease, primary, 1	Enrichment	GNAS	1.42
425	Pseudopseudohypoparathyroidism	Enrichment	GNAS	1.42
426	Piebald trait	Enrichment	KIT	1.42
427	Aural atresia, congenital	Enrichment	FGFR2	1.42
428	Keratosis, seborrheic	Enrichment	FGFR3	1.42
429	Night blindness, congenital stationary, type 1h	Enrichment	GNB3	1.42
430	Thrombocythemia 3	Enrichment	JAK2	1.42
431	Cyanosis, transient neonatal	Enrichment	HBG2	1.42
432	Pain sensitivity quantitative trait locus 1	Enrichment	NTRK1	1.42
433	Antley-bixler syndrome without genital anomalies or disordered steroidogenesis	Enrichment	FGFR2	1.42
434	Infantile myofibromatosis	Enrichment	PDGFRB	1.42
435	Childhood hepatocellular carcinoma	Enrichment	MET	1.42
436	Acute myeloid leukemia with kat6a-crebbp fusion	Enrichment	CREBBP	1.42
437	Split hand-foot malformation	Enrichment	FGFR2	1.42
438	Rosette-forming glioneuronal tumor	Enrichment	FGFR1	1.42
439	Autosomal dominant hypocalcemia	Enrichment	GNA11	1.42
440	Pseudohypoparathyroidism	Enrichment	GNAS	1.42
441	Papillary renal cell carcinoma	Enrichment	MET	1.42
442	Congenital mesoblastic nephroma	Enrichment	NTRK3	1.42
443	Autoinflammation, immune dysregulation, and eosinophilia	Enrichment	JAK1	1.42
444	Cervix carcinoma	Enrichment	FGFR3	1.42
445	Fibrosarcoma	Enrichment	NTRK3	1.42
446	Hypopituitarism	Enrichment	GNAI2	1.42
447	Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia	Enrichment	GNB5	1.42
448	Polycythemia	Enrichment	JAK2	1.42
449	Interfrontal craniofaciosynostosis	Enrichment	FGFR1	1.42
450	Common variable immunodeficiency phenotype due to cd19/cd81 deficiency	Enrichment	CD19	1.42
451	Autosomal dominant nonsyndromic deafness	Enrichment	FGFR2	1.42
452	Chronic eosinophilic leukemia	Enrichment	PDGFRA	1.42
453	Cadds	Enrichment	BCAP31	1.42
454	Arthritis	Enrichment	SYK	1.42
455	Acth-independent macronodular adrenal hyperplasia	Enrichment	GNAS	1.42
456	Hypereosinophilic syndrome	Enrichment	JAK2	1.42
457	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality	Enrichment	PDGFRA	1.42
458	B-lymphoblastic leukemia/lymphoma with t	Enrichment	KIT	1.42
459	Tafro syndrome	Enrichment	MAP2K2	1.42
460	Cerebral visual impairment	Enrichment	GNB1	1.42
461	Phakomatosis cesioflammea	Enrichment	GNA11	1.42
462	Spinocerebellar ataxia 29	Enrichment	ITPR1	1.41
463	Amelogenesis imperfecta, type ig	Enrichment	PRKAR1A	1.41
464	Immunodeficiency 33	Enrichment	IKBKG	1.41
465	Tubulointerstitial kidney disease, autosomal dominant 4	Enrichment	REN	1.41
466	Bleeding disorder, platelet-type, 19	Enrichment	PRKACG	1.41
467	Immunodeficiency, common variable, 12, with autoimmunity	Enrichment	NFKB1	1.41
468	Immunodeficiency 31c	Enrichment	STAT1	1.41
469	Genitourinary and/or brain malformation syndrome	Enrichment	PPP1R12A	1.41
470	Marbach-schaaf neurodevelopmental syndrome	Enrichment	PRKAR1B	1.41
471	Usher syndrome, type iv	Enrichment	PRKAR1A	1.41
472	Acrodysostosis	Enrichment	PRKAR1A	1.41
473	Body mass index quantitative trait locus 19	Enrichment	ADCY3	1.41
474	Fibrolamellar carcinoma	Enrichment	PRKACA	1.41
475	Ectodermal dysplasia and immune deficiency	Enrichment	IKBKG	1.41
476	Ciliary dyskinesia, primary, 18	Enrichment	PRKAR1B	1.41
477	Glucosephosphate dehydrogenase deficiency	Enrichment	IKBKG	1.41
478	Lymphomatoid papulosis	Enrichment	TYK2	1.41
479	Isolated primary pigmented nodular adrenocortical disease	Enrichment	PRKAR1A	1.41
480	Common variable immunodeficiency 12	Enrichment	NFKB1	1.41
481	Primary cutaneous anaplastic large cell lymphoma	Enrichment	TYK2	1.41
482	Hypertension, essential	Enrichment	AGT, AGTR1	1.37
483	Human immunodeficiency virus type 1	Enrichment	CCL2, CXCL12	1.33
484	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	TGFB2, TGFB3, TGFBR1	1.29
485	Brachydactyly, type a1	Enrichment	GDF5	1.29
486	Brachydactyly, type c	Enrichment	GDF5	1.29
487	Type 1 diabetes mellitus 2	Enrichment	INS	1.29
488	Klippel-feil syndrome 1, autosomal dominant	Enrichment	GDF6	1.29
489	Exfoliation syndrome	Enrichment	LTBP2	1.29
490	Tumoral calcinosis, hyperphosphatemic, familial, 1	Enrichment	FGF23	1.29
491	Acromesomelic dysplasia 2a	Enrichment	GDF5	1.29
492	Thrombocythemia 1	Enrichment	THPO	1.29
493	Hypophosphatemic rickets, autosomal dominant	Enrichment	FGF23	1.29
494	Acromesomelic dysplasia 2c	Enrichment	GDF5	1.29
495	Acromesomelic dysplasia 2b	Enrichment	GDF5	1.29
496	Leukoencephalopathy, hereditary diffuse, with spheroids 1	Enrichment	CSF1R	1.29
497	Succinic semialdehyde dehydrogenase deficiency	Enrichment	GPLD1	1.29
498	Polycystic kidney disease, infantile severe, with tuberous sclerosis	Enrichment	TSC2	1.29
499	Muscular dystrophy, duchenne type	Enrichment	LTBP4	1.29
500	Transposition of the great arteries, dextro-looped	Enrichment	BMP2	1.29
501	Heparin cofactor ii deficiency	Enrichment	EIF4G3	1.29
502	Tuberous sclerosis 2	Enrichment	TSC2	1.29
503	Dyskeratosis congenita, autosomal dominant 6	Enrichment	THPO	1.29
504	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3R1	1.29
505	Weill-marchesani syndrome 1	Enrichment	LTBP2	1.29
506	Autosomal recessive cutis laxa type i	Enrichment	LTBP1	1.29
507	Isolated growth hormone deficiency, type ib	Enrichment	GH1	1.29
508	Lymphatic malformation 7	Enrichment	EPHB4	1.29
509	Xanthinuria, type ii	Enrichment	TSC2	1.29
510	Immunodeficiency 14	Enrichment	PIK3R1	1.29
511	Capillary malformation-arteriovenous malformation 2	Enrichment	EPHB4	1.29
512	High bone mass osteogenesis imperfecta	Enrichment	BMP1	1.29
513	Geleophysic dysplasia	Enrichment	LTBP3	1.29
514	Enchondromatosis	Enrichment	HIF1A	1.29
515	Testicular cancer	Enrichment	STK11	1.29
516	Isolated klippel-feil syndrome	Enrichment	GDF6	1.29
517	Beckwith-wiedemann syndrome due to imprinting defect of 11p15	Enrichment	IGF2	1.29
518	Apc-associated polyposis conditions	Enrichment	STK11	1.29
519	Breast cancer	Enrichment	AKT1, GNG3, IL2, KRAS	1.26
520	Craniosynostosis	Enrichment	FGFR2, FGFR3	1.26
521	Achondroplasia	Enrichment	FGFR3	1.25
522	Mccune-albright syndrome	Enrichment	GNAS	1.25
523	Hypogonadotropic hypogonadism 2 with or without anosmia	Enrichment	FGFR1	1.25
524	Larsen syndrome	Enrichment	FGFR3	1.25
525	Thyroid carcinoma, familial medullary	Enrichment	NTRK1	1.25
526	Polycythemia vera	Enrichment	JAK2	1.25
527	Nuchal bleb, familial	Enrichment	SOS1	1.25
528	Chromosome 8p11 myeloproliferative syndrome	Enrichment	FGFR1	1.25
529	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	1.25
530	Miller-dieker lissencephaly syndrome	Enrichment	YWHAE	1.25
531	Chromosome 17p13.3, centromeric, duplication syndrome	Enrichment	YWHAE	1.25
532	Tethered spinal cord syndrome	Enrichment	CREBBP	1.25
533	Loeys-dietz syndrome 1	Enrichment	TGFBR1	1.25
534	Intraocular pressure quantitative trait locus	Enrichment	CREBBP	1.25
535	Cushing syndrome due to bilateral macronodular adrenocortical disease	Enrichment	GNAS	1.25
536	Growth delay due to insulin-like growth factor i resistance	Enrichment	IGF1R	1.25
537	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	1.25
538	Delta beta-thalassemia	Enrichment	HBG1	1.25
539	Renal cell carcinoma	Enrichment	MET	1.25
540	Cerebral sinovenous thrombosis	Enrichment	F2	1.25
541	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	STAT3	1.24
542	Gillespie syndrome	Enrichment	ITPR1	1.24
543	Hyper ige syndrome	Enrichment	STAT3	1.24
544	Hepatoblastoma	Enrichment	FGFR3, REN	1.21
545	Hepatocellular carcinoma	Enrichment	IGF2R, MET	1.19
546	Tooth agenesis	Enrichment	FGFR1, TGFA	1.19
547	Kaposi sarcoma	Enrichment	IL6	1.17
548	Isolated growth hormone deficiency, type ii	Enrichment	GH1	1.17
549	Diffuse gastric and lobular breast cancer syndrome	Enrichment	KRAS	1.17
550	Microtia-anotia	Enrichment	BMP5	1.17
551	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	PIK3R2	1.17
552	Glaucoma 3, primary infantile, b	Enrichment	LTBP2	1.17
553	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.17
554	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	PIK3R2	1.17
555	Neonatal diabetes mellitus	Enrichment	INS	1.17
556	Lung sarcomatoid carcinoma	Enrichment	KRAS	1.17
557	Weill-marchesani syndrome	Enrichment	LTBP2	1.17
558	Hereditary ataxia	Enrichment	PRKCG	1.17
559	Pilocytic astrocytoma	Enrichment	KRAS	1.17
560	Epidermolytic nevus	Enrichment	HRAS	1.17
561	Silver-russell syndrome due to a point mutation	Enrichment	IGF2	1.17
562	Systemic-onset juvenile idiopathic arthritis	Enrichment	IL6	1.17
563	Pancreatic cancer	Enrichment	KRAS, STK11	1.15
564	Erythrocytosis, familial, 1	Enrichment	JAK2	1.13
565	Spastic paraplegia 17, autosomal dominant	Enrichment	GNG3	1.13
566	Pseudohypoparathyroidism, type ib	Enrichment	GNAS	1.13
567	Budd-chiari syndrome	Enrichment	JAK2	1.13
568	Neurofibromatosis-noonan syndrome	Enrichment	MAP2K2	1.13
569	Auriculocondylar syndrome 1	Enrichment	GNAI3	1.13
570	Lipodystrophy, congenital generalized, type 2	Enrichment	GNG3	1.13
571	Achromatopsia 4	Enrichment	GNAI3	1.13
572	Aortic aneurysm	Enrichment	TGFBR1	1.13
573	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	YWHAZ	1.13
574	Noonan syndrome with multiple lentigines	Enrichment	RAF1	1.13
575	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Enrichment	KIT	1.13
576	Non-syndromic bicoronal craniosynostosis	Enrichment	FGFR3	1.13
577	Systemic mastocytosis with associated hematologic neoplasm	Enrichment	KIT	1.13
578	Gingival fibromatosis	Enrichment	SOS1	1.13
579	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	SOS2	1.13
580	Familial sick sinus syndrome	Enrichment	GNB2	1.13
581	Carney complex variant	Enrichment	PRKAR1A	1.12
582	Spinocerebellar ataxia 15	Enrichment	ITPR1	1.12
583	Arrhythmogenic right ventricular dysplasia, familial, 10	Enrichment	PRKAR1A	1.12
584	Congenital generalized lipodystrophy	Enrichment	FOS	1.12
585	Knobloch syndrome	Enrichment	PAK2	1.12
586	Hydrops fetalis, nonimmune	Enrichment	EPHB4, HRAS	1.12
587	Cataract 6, multiple types	Enrichment	EPHA2	1.07
588	Enchondromatosis, multiple, ollier type	Enrichment	HIF1A	1.07
589	Arrhythmogenic right ventricular dysplasia, familial, 1	Enrichment	TGFB3	1.07
590	Rheumatoid arthritis, systemic juvenile	Enrichment	IL6	1.07
591	Atrioventricular septal defect	Enrichment	BMP5	1.07
592	Familial adenomatous polyposis 1	Enrichment	STK11	1.07
593	Congenital heart defects, multiple types, 4	Enrichment	BMP7	1.07
594	Juvenile glaucoma	Enrichment	LTBP2	1.07
595	Arrhythmogenic right ventricular dysplasia 1	Enrichment	TGFB3	1.07
596	Aniridia	Enrichment	EPHA2	1.07
597	Diffuse cutaneous systemic sclerosis	Enrichment	CCN2	1.07
598	Generalized juvenile polyposis/juvenile polyposis coli	Enrichment	STK11	1.07
599	Tetralogy of fallot	Enrichment	FLT4, KDR	1.06
600	Undetermined early-onset epileptic encephalopathy	Enrichment	FGF12, NTRK2, YWHAG	1.04
601	Capillary malformations, congenital	Enrichment	GNA11	1.04
602	Pre-eclampsia	Enrichment	FLT1	1.04
603	Acute myeloid leukemia with maturation	Enrichment	KIT	1.04
604	Myeloproliferative neoplasm	Enrichment	JAK2	1.04
605	Acute myeloid leukemia with t(8;21)(q22;q22) translocation	Enrichment	KIT	1.04
606	Hereditary pulmonary alveolar proteinosis	Enrichment	CSF2RB	1.04
607	Endometrial stromal sarcoma	Enrichment	YWHAE	1.04
608	Anemia, congenital, nonspherocytic hemolytic, 1	Enrichment	IKBKG	1.03
609	Knobloch syndrome 1	Enrichment	PAK2	1.03
610	Mosaic variegated aneuploidy syndrome 1	Enrichment	PAK6	1.03
611	Histiocytoid hemangioma	Enrichment	FOS	1.03
612	Glaucoma, primary open angle	Enrichment	LTBP2	1.00
613	Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome	Enrichment	BDNF	1.00
614	Dental anomalies and short stature	Enrichment	LTBP3	1.00
615	Anterior segment dysgenesis 5	Enrichment	BMP4	1.00
616	Mitochondrial dna depletion syndrome 1	Enrichment	TYMP	1.00
617	Inflammatory bowel disease 25, autosomal recessive	Enrichment	TGFB1	1.00
618	Inflammatory myofibroblastic tumor	Enrichment	ALK	1.00
619	Keratoconus	Enrichment	TSC1	1.00
620	Limited scleroderma	Enrichment	CCN2	1.00
621	Il10-related early-onset inflammatory bowel disease	Enrichment	TGFB1	1.00
622	Melanoma, uveal	Enrichment	GNA11	0.96
623	Cowden syndrome 1	Enrichment	EGFR	0.96
624	Rubinstein-taybi syndrome 1	Enrichment	CREBBP	0.96
625	Split-hand/foot malformation 1	Enrichment	FGFR2	0.96
626	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	CREBBP	0.96
627	Hypertrichosis	Enrichment	CREBBP	0.96
628	Classic ehlers-danlos syndrome	Enrichment	TGFBR1	0.96
629	Kidney clear cell sarcoma	Enrichment	YWHAE	0.96
630	Hemorrhage, intracerebral	Enrichment	ACE	0.95
631	Spinocerebellar ataxia, autosomal recessive 16	Enrichment	ITPR1	0.95
632	Adrenocortical carcinoma	Enrichment	PRKAR1A	0.95
633	Chronic mucocutaneous candidiasis	Enrichment	STAT1	0.95
634	Inherited cancer-predisposing syndrome	Enrichment	EGFR, KIT, MET, PDGFRA, PRKAR1A	0.94
635	Polycystic kidney disease 1 with or without polycystic liver disease	Enrichment	TSC2	0.93
636	Glaucoma 3, primary congenital, a	Enrichment	LTBP2	0.93
637	Silver-russell syndrome 1	Enrichment	IGF2	0.93
638	Waardenburg syndrome, type 2e	Enrichment	KITLG	0.93
639	Multiple enchondromatosis, maffucci type	Enrichment	HIF1A	0.93
640	Polycystic kidney disease 1	Enrichment	TSC2	0.93
641	Gallbladder cancer	Enrichment	KRAS	0.93
642	Hereditary hemorrhagic telangiectasia	Enrichment	GDF2	0.93
643	Hypophosphatemic rickets	Enrichment	FGF23	0.93
644	Thrombophilia due to thrombin defect	Enrichment	F2	0.90
645	Myelofibrosis	Enrichment	JAK2	0.90
646	Squamous cell carcinoma, head and neck	Enrichment	EGFR	0.90
647	Brachydactyly	Enrichment	GNAS	0.90
648	Oligoarticular juvenile idiopathic arthritis	Enrichment	IL2RA	0.90
649	Rheumatoid factor-negative juvenile idiopathic arthritis	Enrichment	IL2RA	0.90
650	Common variable immunodeficiency	Enrichment	NFKB1	0.89
651	Gastroesophageal reflux	Enrichment	RPS6KA3	0.88
652	Isolated growth hormone deficiency, type ia	Enrichment	GH1	0.88
653	Orthostatic intolerance	Enrichment	RPS6KA3	0.88
654	Mitochondrial dna depletion syndrome 4b	Enrichment	TYMP	0.88
655	Lennox-gastaut syndrome	Enrichment	MAPK10	0.88
656	Neuroblastoma	Enrichment	ALK	0.88
657	Permanent neonatal diabetes mellitus	Enrichment	INS	0.88
658	Early-onset posterior polar cataract	Enrichment	EPHA2	0.88
659	Cakut	Enrichment	ACE, GDF6	0.85
660	Arthrogryposis, distal, type 1a	Enrichment	MET	0.85
661	Spastic paraplegia 4, autosomal dominant	Enrichment	GNAS	0.85
662	Hypothyroidism	Enrichment	GNB1	0.85
663	Mosaic variegated aneuploidy syndrome	Enrichment	PAK6	0.84
664	Orofacial cleft 1	Enrichment	FGF10	0.83
665	Congenital central hypoventilation syndrome	Enrichment	BDNF	0.83
666	Ventricular septal defect	Enrichment	RPS6KA3	0.83
667	Cowden syndrome	Enrichment	AKT1	0.83
668	Mitochondrial neurogastrointestinal encephalomyopathy	Enrichment	TYMP	0.83
669	Renal agenesis, bilateral	Enrichment	FGF20	0.83
670	Leukemia, acute lymphoblastic 3	Enrichment	JAK2	0.80
671	Hypogonadotropic hypogonadism	Enrichment	FGFR1	0.80
672	Primary hyperaldosteronism	Enrichment	GNAS	0.80
673	Coronary heart disease 5	Enrichment	IKBKG	0.79
674	Peters-plus syndrome	Enrichment	BMP4	0.79
675	Stickler syndrome	Enrichment	BMP4	0.79
676	Melanoma	Enrichment	STK11	0.79
677	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3R1	0.79
678	Gastric cancer	Enrichment	KRAS, STK11	0.76
679	Meier-gorlin syndrome 1	Enrichment	FGFR2	0.76
680	Primary bone dysplasia	Enrichment	FGFR3	0.76
681	Frontotemporal dementia 1	Enrichment	CSF1R	0.75
682	Meningioma, familial	Enrichment	PDGFB	0.75
683	Diabetes mellitus	Enrichment	INS	0.75
684	Heritable pulmonary arterial hypertension	Enrichment	GDF2	0.75
685	Ciliary dyskinesia, primary, 3	Enrichment	NFKB1	0.75
686	Hereditary breast carcinoma	Enrichment	AKT1, KRAS	0.74
687	Pectus excavatum	Enrichment	TGFBR1	0.72
688	Immune deficiency disease	Enrichment	SYK	0.72
689	Leukemia, acute lymphoblastic	Enrichment	GNB1	0.72
690	Myelodysplastic syndrome	Enrichment	GNB1	0.72
691	Osteochondrodysplasia	Enrichment	FGFR3	0.72
692	Cutis laxa	Enrichment	LTBP4	0.72
693	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	TGFB3	0.72
694	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	TGFB3	0.72
695	Pulmonary hypertension, primary, 1	Enrichment	GDF2	0.69
696	Alzheimer's disease	Enrichment	CSF1R	0.69
697	Chromosome 1p36 deletion syndrome	Enrichment	PRKCZ	0.69
698	Amelogenesis imperfecta	Enrichment	LTBP3	0.69
699	Protein-deficiency anemia	Enrichment	NRAS	0.69
700	Nk-cell enteropathy	Enrichment	AXL	0.69
701	Septooptic dysplasia	Enrichment	FGFR1	0.69
702	Microcephaly	Enrichment	GNB1, IGF1R, MAPK1, YWHAG	0.68
703	Congenital long qt syndrome	Enrichment	ITPR3	0.68
704	Generalized epilepsy with febrile seizures plus	Enrichment	FGF13	0.66
705	Cataract	Enrichment	EPHA2	0.66
706	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	TGFB3	0.66
707	Aortic valve disease 1	Enrichment	SOS1	0.66
708	Wilms tumor 1	Enrichment	IGF2	0.63
709	Osteogenesis imperfecta, type iii	Enrichment	BMP1	0.63
710	Lynch syndrome	Enrichment	KRAS	0.63
711	Autosomal dominant polycystic kidney disease	Enrichment	TSC2	0.63
712	Kidney disease	Enrichment	TSC1	0.63
713	Hypogonadotropic hypogonadism 7 with or without anosmia	Enrichment	FGFR1	0.63
714	Heart disease	Enrichment	CREBBP	0.63
715	46,xy partial gonadal dysgenesis	Enrichment	SOS1	0.63
716	Multiple sclerosis	Enrichment	ITPR1	0.62
717	Body mass index quantitative trait locus 11	Enrichment	BDNF, GNAS	0.61
718	Autosomal dominant non-syndromic intellectual disability	Enrichment	GNB1, YWHAZ	0.61
719	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	ADCY1, HGF, MET	0.60
720	Corpus callosum, agenesis of	Enrichment	CREBBP	0.60
721	Isolated corpus callosum agenesis	Enrichment	CREBBP	0.60
722	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	CREBBP	0.60
723	Anterior segment dysgenesis	Enrichment	ITPR1	0.59
724	Alzheimer disease, familial, 1	Enrichment	CSF1R	0.59
725	Melanoma, cutaneous malignant 1	Enrichment	STK11	0.59
726	Cataract 44	Enrichment	EPHA2	0.59
727	Beckwith-wiedemann syndrome	Enrichment	IGF2	0.56
728	Heart, malformation of	Enrichment	MAPK1	0.56
729	Charcot-marie-tooth disease type 4	Enrichment	PLD3	0.56
730	Early-onset nuclear cataract	Enrichment	EPHA2	0.56
731	Cleft palate, isolated	Enrichment	GNB1	0.55
732	Dandy-walker syndrome	Enrichment	PDGFRB	0.55
733	Ehlers-danlos syndrome	Enrichment	TGFB2	0.54
734	Macs syndrome	Enrichment	GDF6	0.53
735	Maturity-onset diabetes of the young	Enrichment	INS	0.53
736	Diffuse large b-cell lymphoma	Enrichment	CREBBP	0.51
737	Visceral heterotaxy	Enrichment	LEFTY2	0.49
738	Congenital nervous system abnormality	Enrichment	CREBBP, FGFR3, GNB5	0.48
739	Nervous system disease	Enrichment	CREBBP, FGFR3, GNB5	0.48
740	Endometrial cancer	Enrichment	FGFR2	0.48
741	Brittle bone disorder	Enrichment	BMP1	0.48
742	Attention deficit-hyperactivity disorder	Enrichment	GNB5	0.46
743	Parkinson disease, late-onset	Enrichment	EIF4G1	0.46
744	Myocardial infarction	Enrichment	ACE	0.45
745	Congenital stationary night blindness	Enrichment	GNB3	0.45
746	Malaria	Enrichment	IKBKG	0.44
747	Brugada syndrome	Enrichment	SEMA3A	0.43
748	Cardiomyopathy, familial hypertrophic, 1	Enrichment	RAF1	0.43
749	Scoliosis	Enrichment	CREBBP	0.43
750	Complex neurodevelopmental disorder	Enrichment	EIF4A2, PPP2CA, RAC3	0.43
751	Hirschsprung disease 1	Enrichment	NRG3	0.40
752	Prostate cancer	Enrichment	EPHB2	0.40
753	Strabismus	Enrichment	GNB1	0.39
754	Cystic fibrosis	Enrichment	TGFB1	0.36
755	Peripheral nervous system disease	Enrichment	NGF	0.36
756	Neuropathy	Enrichment	NGF	0.36
757	Primary ciliary dyskinesia	Enrichment	DRC4, PRKAR1B	0.36
758	Long qt syndrome 1	Enrichment	ITPR3	0.35
759	Connective tissue disease	Enrichment	FGFR3	0.34
760	Familial hypertrophic cardiomyopathy	Enrichment	RAF1	0.33
761	Non-syndromic x-linked intellectual disability	Enrichment	RPS6KA3	0.33
762	Severe combined immunodeficiency	Enrichment	IKBKB	0.32
763	Left ventricular noncompaction	Enrichment	RAF1	0.31
764	Dystonia	Enrichment	GNB1	0.31
765	Charcot-marie-tooth disease	Enrichment	PLD3	0.29
766	West syndrome	Enrichment	TSC2	0.27
767	Sensorineural hearing loss	Enrichment	HGF	0.24
768	Thrombocytopenia	Enrichment	THPO	0.24
769	Hypertelorism	Enrichment	RPS6KA3	0.22
770	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	KITLG	0.22
771	Autism spectrum disorder	Enrichment	GNB1, MAP2K1	0.21
772	Hereditary breast ovarian cancer syndrome	Enrichment	KRAS	0.21
773	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	FGF8	0.20
774	Familial isolated dilated cardiomyopathy	Enrichment	RAF1	0.19
775	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	CSF1R	0.19
776	Spastic ataxia	Enrichment	ITPR1	0.19
777	Autism	Enrichment	CREBBP	0.12
778	Dilated cardiomyopathy	Enrichment	RAF1	0.10
779	Mitochondrial disease	Enrichment	GFER	0.10
780	Leber plus disease	Enrichment	GDF6	0.09
781	Hereditary retinal dystrophy	Enrichment	TIMP3	0.00
782	Fundus dystrophy	Enrichment	TIMP3	0.00

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

p70S6K Signaling

Pathway Network for p70S6K Signaling

Pathway network for the p70S6K Signaling SuperPath

Member Pathways for p70S6K Signaling

Pathways in the p70S6K Signaling SuperPath

Gene overlap in member pathways for p70S6K Signaling SuperPath

Associated Genes for p70S6K Signaling

Associated Disorders for p70S6K Signaling

Disorders associated with p70S6K Signaling SuperPath

STRING Interaction Network for p70S6K Signaling

Sources for p70S6K Signaling