mTOR Signaling

No Pathway Network information available for mTOR Signaling

Pathways in the mTOR Signaling SuperPath

#	Name	Source	Genes
1	mTOR Signaling	R&D Systems	AKT1 AKT1S1 AKT2 AKT3 APC ARAF AXIN1 AXIN2 BRAF CAB39 CSNK1A1 CSNK1D CSNK1E CSNK1G1 DDIT4 DEPTOR DVL1 DVL2 DVL3 EEF2 EGFR EIF4A1 EIF4B EIF4E EIF4EBP1 EIF4G1 ERBB2 ERBB3 ERBB4 FGFR1 FGFR2 FGFR3 FGFR4 FGFRL1 FLT1 FLT4 FZD1 FZD10 FZD2 FZD3 FZD4 FZD5 FZD6 FZD7 FZD8 FZD9 GPC1 GPC2 GPC3 GPC5 GPC6 GRB2 GSK3B IGF1R IGF2R IKBKB INSR INSRR IRS1 KDR KRAS LGR4 LGR5 LGR6 LPIN1 LRP5 LRP6 MAF1 MAP3K14 MAPK1 MAPK3 MAPKAP1 MET MLST8 MTOR PDCD4 PDGFRA PDGFRB PDPK1 PIK3CB PIK3CD PIK3CG PIK3R1 PIK3R2 POLA1 PRKAA1 PRKAA2 PRKAB1 PRKAB2 PRKCA PRR5 PTEN PXN RAC1 RAF1 RHEB RICTOR RIPK1 RPS6KB1 RPS6KB2 RPTOR RSPO1 RSPO2 RSPO3 RSPO4 SDC1 SDC2 SDC3 SDC4 SGK1 SOS1 SOS2 SREBF2 STK11 STRADA TBC1D7 TNF TNFRSF1B TP53 TRIM24 TSC1 TSC2 WNT1 WNT10A WNT10B WNT11 WNT2 WNT2B WNT3A WNT4 WNT5A WNT5B WNT6 WNT7A WNT7B WNT8A WNT8B WNT9A WNT9B (see all 139) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	TNF	Tumor Necrosis Factor	Protein Coding	1
2	TNFRSF1B	TNF Receptor Superfamily Member 1B	Protein Coding	1
3	RIPK1	Receptor Interacting Serine/Threonine Kinase 1	Protein Coding	1
4	MAP3K14	Mitogen-Activated Protein Kinase Kinase Kinase 14	Protein Coding	1
5	IKBKB	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta	Protein Coding	1
6	DDIT4	DNA Damage Inducible Transcript 4	Protein Coding	1
7	TP53	Tumor Protein P53	Protein Coding	1
8	PRKAA1	Protein Kinase AMP-Activated Catalytic Subunit Alpha 1	Protein Coding	1
9	PRKAA2	Protein Kinase AMP-Activated Catalytic Subunit Alpha 2	Protein Coding	1
10	PRKAB1	Protein Kinase AMP-Activated Non-Catalytic Subunit Beta 1	Protein Coding	1
11	PRKAB2	Protein Kinase AMP-Activated Non-Catalytic Subunit Beta 2	Protein Coding	1
12	CAB39	Calcium Binding Protein 39	Protein Coding	1
13	STK11	Serine/Threonine Kinase 11	Protein Coding	1
14	STRADA	STE20 Related Adaptor Alpha	Protein Coding	1
15	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	1
16	APC	APC Regulator Of Wnt Signaling Pathway	Protein Coding	1
17	AXIN1	Axin 1	Protein Coding	1
18	AXIN2	Axin 2	Protein Coding	1
19	CSNK1A1	Casein Kinase 1 Alpha 1	Protein Coding	1
20	CSNK1G1	Casein Kinase 1 Gamma 1	Protein Coding	1
21	CSNK1D	Casein Kinase 1 Delta	Protein Coding	1
22	CSNK1E	Casein Kinase 1 Epsilon	Protein Coding	1
23	DVL1	Dishevelled Segment Polarity Protein 1	Protein Coding	1
24	DVL2	Dishevelled Segment Polarity Protein 2	Protein Coding	1
25	DVL3	Dishevelled Segment Polarity Protein 3	Protein Coding	1
26	LRP5	LDL Receptor Related Protein 5	Protein Coding	1
27	LRP6	LDL Receptor Related Protein 6	Protein Coding	1
28	FZD1	Frizzled Class Receptor 1	Protein Coding	1
29	FZD2	Frizzled Class Receptor 2	Protein Coding	1
30	FZD3	Frizzled Class Receptor 3	Protein Coding	1
31	FZD4	Frizzled Class Receptor 4	Protein Coding	1
32	FZD5	Frizzled Class Receptor 5	Protein Coding	1
33	FZD6	Frizzled Class Receptor 6	Protein Coding	1
34	FZD7	Frizzled Class Receptor 7	Protein Coding	1
35	FZD8	Frizzled Class Receptor 8	Protein Coding	1
36	FZD9	Frizzled Class Receptor 9	Protein Coding	1
37	FZD10	Frizzled Class Receptor 10	Protein Coding	1
38	WNT1	Wnt Family Member 1	Protein Coding	1
39	WNT2	Wnt Family Member 2	Protein Coding	1
40	WNT2B	Wnt Family Member 2B	Protein Coding	1
41	WNT3A	Wnt Family Member 3A	Protein Coding	1
42	WNT4	Wnt Family Member 4	Protein Coding	1
43	WNT5A	Wnt Family Member 5A	Protein Coding	1
44	WNT5B	Wnt Family Member 5B	Protein Coding	1
45	WNT6	Wnt Family Member 6	Protein Coding	1
46	WNT7A	Wnt Family Member 7A	Protein Coding	1
47	WNT7B	Wnt Family Member 7B	Protein Coding	1
48	WNT8A	Wnt Family Member 8A	Protein Coding	1
49	WNT8B	Wnt Family Member 8B	Protein Coding	1
50	WNT9A	Wnt Family Member 9A	Protein Coding	1
51	WNT9B	Wnt Family Member 9B	Protein Coding	1
52	WNT10A	Wnt Family Member 10A	Protein Coding	1
53	WNT10B	Wnt Family Member 10B	Protein Coding	1
54	WNT11	Wnt Family Member 11	Protein Coding	1
55	RSPO1	R-Spondin 1	Protein Coding	1
56	RSPO2	R-Spondin 2	Protein Coding	1
57	RSPO3	R-Spondin 3	Protein Coding	1
58	RSPO4	R-Spondin 4	Protein Coding	1
59	SDC1	Syndecan 1	Protein Coding	1
60	SDC2	Syndecan 2	Protein Coding	1
61	SDC3	Syndecan 3	Protein Coding	1
62	SDC4	Syndecan 4	Protein Coding	1
63	GPC1	Glypican 1	Protein Coding	1
64	GPC2	Glypican 2	Protein Coding	1
65	GPC3	Glypican 3	Protein Coding	1
66	GPC5	Glypican 5	Protein Coding	1
67	GPC6	Glypican 6	Protein Coding	1
68	LGR4	Leucine Rich Repeat Containing G Protein-Coupled Receptor 4	Protein Coding	1
69	LGR5	Leucine Rich Repeat Containing G Protein-Coupled Receptor 5	Protein Coding	1
70	LGR6	Leucine Rich Repeat Containing G Protein-Coupled Receptor 6	Protein Coding	1
71	EGFR	Epidermal Growth Factor Receptor	Protein Coding	1
72	ERBB2	Erb-B2 Receptor Tyrosine Kinase 2	Protein Coding	1
73	ERBB3	Erb-B2 Receptor Tyrosine Kinase 3	Protein Coding	1
74	ERBB4	Erb-B2 Receptor Tyrosine Kinase 4	Protein Coding	1
75	FGFR1	Fibroblast Growth Factor Receptor 1	Protein Coding	1
76	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	1
77	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	1
78	FGFR4	Fibroblast Growth Factor Receptor 4	Protein Coding	1
79	FGFRL1	Fibroblast Growth Factor Receptor Like 1	Protein Coding	1
80	MET	MET Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	1
81	IGF1R	Insulin Like Growth Factor 1 Receptor	Protein Coding	1
82	IGF2R	Insulin Like Growth Factor 2 Receptor	Protein Coding	1
83	INSR	Insulin Receptor	Protein Coding	1
84	INSRR	Insulin Receptor Related Receptor	Protein Coding	1
85	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	Protein Coding	1
86	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	1
87	FLT1	Fms Related Receptor Tyrosine Kinase 1	Protein Coding	1
88	KDR	Kinase Insert Domain Receptor	Protein Coding	1
89	FLT4	Fms Related Receptor Tyrosine Kinase 4	Protein Coding	1
90	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	1
91	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	1
92	PIK3CB	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta	Protein Coding	1
93	PIK3CG	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Gamma	Protein Coding	1
94	PIK3CD	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta	Protein Coding	1
95	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	1
96	PTEN	Phosphatase And Tensin Homolog	Protein Coding	1
97	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	1
98	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	1
99	SOS2	SOS Ras/Rho Guanine Nucleotide Exchange Factor 2	Protein Coding	1
100	IRS1	Insulin Receptor Substrate 1	Protein Coding	1
101	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
102	ARAF	A-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
103	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
104	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	1
105	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	1
106	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	1
107	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	1
108	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	1
109	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	1
110	TSC1	TSC Complex Subunit 1	Protein Coding	1
111	TSC2	TSC Complex Subunit 2	Protein Coding	1
112	TBC1D7	TBC1 Domain Family Member 7	Protein Coding	1
113	RHEB	Ras Homolog, MTORC1 Binding	Protein Coding	1
114	DEPTOR	DEP Domain Containing MTOR Interacting Protein	Protein Coding	1
115	MLST8	MTOR Associated Protein MLST8	Protein Coding	1
116	RPTOR	Regulatory Associated Protein Of MTOR Complex 1	Protein Coding	1
117	AKT1S1	AKT1 Substrate 1	Protein Coding	1
118	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	1
119	MAPKAP1	MAPK Associated Protein 1	Protein Coding	1
120	PRR5	Proline Rich 5	Protein Coding	1
121	RICTOR	RPTOR Independent Companion Of MTOR Complex 2	Protein Coding	1
122	SGK1	Serum/Glucocorticoid Regulated Kinase 1	Protein Coding	1
123	PRKCA	Protein Kinase C Alpha	Protein Coding	1
124	RAC1	Rac Family Small GTPase 1	Protein Coding	1
125	PXN	Paxillin	Protein Coding	1
126	RPS6KB1	Ribosomal Protein S6 Kinase B1	Protein Coding	1
127	RPS6KB2	Ribosomal Protein S6 Kinase B2	Protein Coding	1
128	EEF2	Eukaryotic Translation Elongation Factor 2	Protein Coding	1
129	LPIN1	Lipin 1	Protein Coding	1
130	SREBF2	Sterol Regulatory Element Binding Transcription Factor 2	Protein Coding	1
131	EIF4B	Eukaryotic Translation Initiation Factor 4B	Protein Coding	1
132	PDCD4	Programmed Cell Death 4	Protein Coding	1
133	EIF4EBP1	Eukaryotic Translation Initiation Factor 4E Binding Protein 1	Protein Coding	1
134	EIF4A1	Eukaryotic Translation Initiation Factor 4A1	Protein Coding	1
135	EIF4G1	Eukaryotic Translation Initiation Factor 4 Gamma 1	Protein Coding	1
136	EIF4E	Eukaryotic Translation Initiation Factor 4E	Protein Coding	1
137	MAF1	MAF1 Negative Regulator Of RNA Polymerase III	Protein Coding	1
138	TRIM24	Tripartite Motif Containing 24	Protein Coding	1
139	POLA1	DNA Polymerase Alpha 1, Catalytic Subunit	Protein Coding	1

Disorders associated with mTOR Signaling SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Bladder cancer	Enrichment	EGFR, ERBB2, ERBB3, FGFR3, KRAS, PTEN, TP53, TSC1	9.46
2	Ovarian cancer	Enrichment	AKT1, APC, AXIN2, EGFR, ERBB2, KRAS, MET, PDGFRA, PTEN, TP53, TRIM24, TSC2	9.36
3	Colorectal cancer	Enrichment	AKT1, APC, AXIN2, BRAF, ERBB2, FGFR2, FGFR3, FZD3, MET, PIK3R1, TP53	8.90
4	Robinow syndrome, autosomal dominant 1	Enrichment	DVL1, DVL3, FZD2, WNT5A	7.98
5	Focal cortical dysplasia, type ii	Enrichment	MTOR, RHEB, TSC1, TSC2	7.98
6	Autosomal dominant robinow syndrome	Enrichment	DVL1, DVL3, FZD2, WNT5A	7.98
7	Isolated focal cortical dysplasia type ii	Enrichment	MTOR, RHEB, TSC1, TSC2	7.98
8	Robinow syndrome, autosomal recessive 1	Enrichment	DVL1, DVL3, FZD2, WNT5A	7.28
9	Hemimegalencephaly	Enrichment	AKT3, MTOR, PTEN, RHEB	7.28
10	Autosomal recessive robinow syndrome	Enrichment	DVL1, DVL3, FZD2, WNT5A	6.81
11	Lung cancer susceptibility 3	Enrichment	BRAF, EGFR, ERBB2, KRAS, TP53	6.71
12	Gastric cancer	Enrichment	APC, ERBB2, FGFR2, KRAS, PTEN, STK11, TP53	6.62
13	Pilomyxoid astrocytoma	Enrichment	BRAF, FGFR1, KRAS, RAF1	6.44
14	Inherited cancer-predisposing syndrome	Enrichment	APC, AXIN2, EGFR, MET, PDGFRA, PTEN, STK11, TP53, TSC1, TSC2	6.00
15	Hamartoma	Enrichment	FGFR3, TSC1, TSC2	5.98
16	Adult hepatocellular carcinoma	Enrichment	AXIN1, TP53, TSC1, TSC2	5.89
17	Hepatocellular carcinoma	Enrichment	APC, AXIN1, IGF2R, MET, TP53	5.62
18	Tooth agenesis	Enrichment	AXIN2, FGFR1, LRP6, WNT10A, WNT10B	5.62
19	Noonan syndrome 1	Enrichment	BRAF, KRAS, RAF1, SOS1, SOS2	5.52
20	Lung non-small cell carcinoma	Enrichment	BRAF, EGFR, ERBB2, KRAS	5.48
21	Lip and oral cavity carcinoma	Enrichment	BRAF, EGFR, STK11, TP53	5.31
22	Rasopathy	Enrichment	BRAF, KRAS, RAF1, SOS1, SOS2	5.24
23	Robinow syndrome, autosomal dominant 2	Enrichment	DVL1, DVL3, FZD2	4.98
24	Primary hypereosinophilic syndrome	Enrichment	FGFR1, PDGFRA, PDGFRB	4.98
25	Noonan syndrome and noonan-related syndrome	Enrichment	BRAF, KRAS, RAF1, SOS1	4.88
26	Lung cancer	Enrichment	BRAF, EGFR, ERBB2, KRAS, MET	4.77
27	Gliosarcoma	Enrichment	EGFR, FGFR1, FGFR3, TP53	4.76
28	Breast adenocarcinoma	Enrichment	AKT1, KRAS, TP53	4.69
29	Lung squamous cell carcinoma	Enrichment	EGFR, FGFR3, KRAS	4.69
30	Myeloma, multiple	Enrichment	BRAF, FGFR3, KRAS, PIK3R2, SGK1, TP53	4.65
31	Giant cell glioblastoma	Enrichment	EGFR, FGFR1, FGFR3, TP53	4.64
32	Squamous cell carcinoma, head and neck	Enrichment	EGFR, PTEN, TP53	4.45
33	Noonan syndrome 3	Enrichment	KRAS, RAF1, SOS1	4.45
34	Gallbladder cancer	Enrichment	BRAF, KRAS, TP53	4.45
35	Hereditary breast carcinoma	Enrichment	AKT1, APC, KRAS, PTEN, TP53	4.08
36	Cervical cancer	Enrichment	FGFR3, TP53	3.98
37	Pulmonic stenosis	Enrichment	BRAF, SOS1	3.98
38	Lymphangioleiomyomatosis	Enrichment	TSC1, TSC2	3.98
39	Pfeiffer syndrome	Enrichment	FGFR1, FGFR2	3.98
40	Jackson-weiss syndrome	Enrichment	FGFR1, FGFR2	3.98
41	Encephalocraniocutaneous lipomatosis	Enrichment	FGFR1, KRAS	3.98
42	Robinow syndrome, autosomal dominant 3	Enrichment	DVL3, FZD2	3.98
43	Cervix carcinoma	Enrichment	FGFR3, TP53	3.98
44	Melanoma	Enrichment	BRAF, PTEN, STK11	3.92
45	Nk-cell enteropathy	Enrichment	ERBB4, IGF1R, PIK3CB	3.55
46	Crouzon syndrome	Enrichment	FGFR2, FGFR3	3.51
47	Lacrimoauriculodentodigital syndrome 1	Enrichment	FGFR2, FGFR3	3.51
48	Tuberous sclerosis 1	Enrichment	TSC1, TSC2	3.51
49	Osteoporosis, juvenile	Enrichment	WNT1, WNT3A	3.51
50	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3CD, PIK3R1	3.51
51	Testicular germ cell cancer	Enrichment	FGFR3, STK11	3.51
52	Immunodeficiency 14	Enrichment	PIK3CD, PIK3R1	3.51
53	Testicular cancer	Enrichment	FGFR3, STK11	3.51
54	Apc-associated polyposis conditions	Enrichment	APC, STK11	3.51
55	Hydrocephalus	Enrichment	FGFR2, FZD3, PDGFRB	3.36
56	Cardiofaciocutaneous syndrome 1	Enrichment	BRAF, KRAS	3.21
57	Thyroid cancer, nonmedullary, 1	Enrichment	BRAF, TP53	3.21
58	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3, PIK3R2	3.21
59	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3, PIK3R2	3.21
60	Saethre-chotzen syndrome	Enrichment	FGFR2, FGFR3	3.21
61	Cardiofaciocutaneous syndrome	Enrichment	BRAF, KRAS	3.21
62	Lung sarcomatoid carcinoma	Enrichment	KRAS, TP53	3.21
63	Retinopathy of prematurity	Enrichment	FZD4, LRP5	3.21
64	Tuberous sclerosis	Enrichment	TSC1, TSC2	3.21
65	Craniopharyngioma	Enrichment	APC, BRAF	3.21
66	Noonan syndrome with multiple lentigines	Enrichment	BRAF, RAF1	3.21
67	Glioma	Enrichment	FGFR2, PTEN	3.21
68	Arteriovenous malformations of the brain	Enrichment	BRAF, EGFR, KRAS	3.04
69	Diffuse large b-cell lymphoma	Enrichment	BRAF, PTEN, TP53	3.04
70	Breast cancer	Enrichment	AKT1, APC, KRAS, PTEN, TP53	2.99
71	Hemifacial hyperplasia	Enrichment	FGFR2, FGFR3	2.99
72	Exudative vitreoretinopathy 1	Enrichment	FZD4, LRP5	2.99
73	Familial adenomatous polyposis 1	Enrichment	APC, STK11	2.99
74	Acute megakaryocytic leukemia	Enrichment	PTEN, TP53	2.99
75	Hepatoblastoma	Enrichment	APC, FGFR3, TP53	2.91
76	Cowden syndrome 1	Enrichment	EGFR, PTEN	2.82
77	Testicular germ cell tumor	Enrichment	FGFR3, STK11	2.82
78	Hemangioma, capillary infantile	Enrichment	FLT4, KDR	2.82
79	46,xy disorder of sex development	Enrichment	FGFR3, INSR	2.82
80	Pancreatic cancer	Enrichment	KRAS, STK11, TP53	2.69
81	Nevus, epidermal	Enrichment	FGFR3, KRAS	2.67
82	Thyroid cancer, nonmedullary, 2	Enrichment	BRAF, PTEN	2.67
83	Renal cell carcinoma, papillary, 1	Enrichment	MET, MTOR	2.67
84	Follicular thyroid carcinoma	Enrichment	BRAF, PTEN	2.67
85	Overgrowth syndrome	Enrichment	MTOR, PIK3R1	2.67
86	Hereditary breast ovarian cancer syndrome	Enrichment	KRAS, PTEN, RIPK1, TP53	2.62
87	Melanocytic nevus syndrome, congenital	Enrichment	BRAF, RAF1	2.55
88	Glioma susceptibility 1	Enrichment	ERBB2, TP53	2.55
89	Lymphoma, non-hodgkin, familial	Enrichment	BRAF, TP53	2.55
90	Exudative vitreoretinopathy	Enrichment	FZD4, LRP5	2.55
91	Hirschsprung disease 1	Enrichment	AXIN2, ERBB2, ERBB3	2.50
92	Differentiated thyroid carcinoma	Enrichment	BRAF, KRAS, TRIM24	2.50
93	Primary hyperaldosteronism	Enrichment	BRAF, TP53	2.45
94	Cowden syndrome	Enrichment	AKT1, PTEN	2.45
95	Non-immune hydrops fetalis	Enrichment	FLT4, FZD6, KRAS	2.42
96	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3CD, PIK3R1	2.35
97	Meningioma	Enrichment	AKT1, PTEN	2.19
98	Osteoporosis	Enrichment	LRP5, WNT1	2.06
99	Type 2 diabetes mellitus	Enrichment	AKT2, INSR, IRS1	2.04
100	Renal cell carcinoma, nonpapillary	Enrichment	MET, MTOR	2.00
101	Wilms tumor 1	Enrichment	BRAF, GPC3	2.00
102	Erythroleukemia, familial	Enrichment	ERBB3	1.99
103	Hypochondroplasia	Enrichment	FGFR3	1.99
104	Proteus syndrome	Enrichment	AKT1	1.99
105	Beare-stevenson cutis gyrata syndrome	Enrichment	FGFR2	1.99
106	Paget disease, extramammary	Enrichment	ERBB2	1.99
107	Osteoglophonic dysplasia	Enrichment	FGFR1	1.99
108	Endosteal hyperostosis, autosomal dominant	Enrichment	LRP5	1.99
109	Nail disorder, nonsyndromic congenital, 1	Enrichment	FZD6	1.99
110	Mullerian aplasia and hyperandrogenism	Enrichment	WNT4	1.99
111	Thanatophoric dysplasia, type i	Enrichment	FGFR3	1.99
112	Trigonocephaly 1	Enrichment	FGFR1	1.99
113	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	1.99
114	Donohue syndrome	Enrichment	INSR	1.99
115	Oculoectodermal syndrome	Enrichment	KRAS	1.99
116	Muenke syndrome	Enrichment	FGFR3	1.99
117	Van esch-o'driscoll syndrome	Enrichment	POLA1	1.99
118	Vacterl association with hydrocephalus	Enrichment	PTEN	1.99
119	Pallister-killian syndrome	Enrichment	ARAF	1.99
120	Premature aging syndrome, penttinen type	Enrichment	PDGFRB	1.99
121	Bone mineral density quantitative trait locus 1	Enrichment	LRP5	1.99
122	Exudative vitreoretinopathy 4	Enrichment	LRP5	1.99
123	Hyperinsulinemic hypoglycemia, familial, 5	Enrichment	INSR	1.99
124	Oligodontia-colorectal cancer syndrome	Enrichment	AXIN2	1.99
125	Noonan syndrome 5	Enrichment	RAF1	1.99
126	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	Enrichment	INSR	1.99
127	Diabetes mellitus, insulin-resistant, with acanthosis nigricans	Enrichment	INSR	1.99
128	Noonan syndrome 4	Enrichment	SOS1	1.99
129	Hypereosinophilic syndrome, idiopathic	Enrichment	PDGFRA	1.99
130	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	Enrichment	WNT4	1.99
131	Scaphocephaly, maxillary retrusion, and impaired intellectual development	Enrichment	FGFR2	1.99
132	Omodysplasia 2	Enrichment	FZD2	1.99
133	Noonan syndrome 7	Enrichment	BRAF	1.99
134	Leopard syndrome 3	Enrichment	BRAF	1.99
135	Apert syndrome	Enrichment	FGFR2	1.99
136	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	1.99
137	Parkinson disease 18, autosomal dominant	Enrichment	EIF4G1	1.99
138	Split-hand/foot malformation 6	Enrichment	WNT10B	1.99
139	Myofibromatosis, infantile, 1	Enrichment	PDGFRB	1.99
140	Tooth agenesis, selective, 7	Enrichment	LRP6	1.99
141	Thanatophoric dysplasia, type ii	Enrichment	FGFR3	1.99
142	Noonan syndrome 9	Enrichment	SOS2	1.99
143	Lethal congenital contracture syndrome 2	Enrichment	ERBB3	1.99
144	Caudal duplication anomaly	Enrichment	AXIN1	1.99
145	Advanced sleep phase syndrome, familial, 2	Enrichment	CSNK1D	1.99
146	Tooth agenesis, selective, 8	Enrichment	WNT10B	1.99
147	Gist-plus syndrome	Enrichment	PDGFRA	1.99
148	Camptodactyly, tall stature, and hearing loss syndrome	Enrichment	FGFR3	1.99
149	Bone mineral density quantitative trait locus 17	Enrichment	LGR4	1.99
150	Bent bone dysplasia syndrome 1	Enrichment	FGFR2	1.99
151	Exudative vitreoretinopathy 8	Enrichment	LRP6	1.99
152	Visceral neuropathy, familial, 2, autosomal recessive	Enrichment	ERBB2	1.99
153	Immunodeficiency 15b	Enrichment	IKBKB	1.99
154	Noonan syndrome 13	Enrichment	MAPK1	1.99
155	Immunodeficiency 15a	Enrichment	IKBKB	1.99
156	Pigmentary disorder, reticulate, with systemic manifestations, x-linked	Enrichment	POLA1	1.99
157	Humerofemoral hypoplasia with radiotibial ray deficiency	Enrichment	RSPO2	1.99
158	Short syndrome	Enrichment	PIK3R1	1.99
159	Bone marrow failure syndrome 5	Enrichment	TP53	1.99
160	Osteofibrous dysplasia	Enrichment	MET	1.99
161	Diarrhea 9	Enrichment	WNT2B	1.99
162	Papilloma of choroid plexus	Enrichment	TP53	1.99
163	Basal cell carcinoma 7	Enrichment	TP53	1.99
164	Autism 19	Enrichment	EIF4E	1.99
165	Myeloid and lymphoid neoplasms associated with pdgfra rearrangement	Enrichment	PDGFRA	1.99
166	Anaplastic thyroid carcinoma	Enrichment	TP53	1.99
167	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	Enrichment	RSPO1	1.99
168	Osteoporosis-pseudoglioma syndrome	Enrichment	LRP5	1.99
169	Papillary tumor of the pineal region	Enrichment	PTEN	1.99
170	Coronary artery disease, autosomal dominant 2	Enrichment	LRP6	1.99
171	Bone mineral density quantitative trait locus 16	Enrichment	WNT1	1.99
172	Cardiofaciocutaneous syndrome 2	Enrichment	KRAS	1.99
173	Spinocerebellar ataxia 26	Enrichment	EEF2	1.99
174	Deafness, autosomal recessive 97	Enrichment	MET	1.99
175	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	1.99
176	Lymphangioma	Enrichment	BRAF	1.99
177	Crouzon syndrome with acanthosis nigricans	Enrichment	FGFR3	1.99
178	Polycystic liver disease 4 with or without kidney cysts	Enrichment	LRP5	1.99
179	Phace association	Enrichment	BRAF	1.99
180	Santos syndrome	Enrichment	WNT7A	1.99
181	Autism 9	Enrichment	MET	1.99
182	Leopard syndrome 2	Enrichment	RAF1	1.99
183	Basal ganglia calcification, idiopathic, 4	Enrichment	PDGFRB	1.99
184	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	1.99
185	Cowden syndrome 6	Enrichment	AKT1	1.99
186	Amyotrophic lateral sclerosis 19	Enrichment	ERBB4	1.99
187	Immunodeficiency 14b, autosomal recessive	Enrichment	PIK3CD	1.99
188	Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement	Enrichment	PDGFRB	1.99
189	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	1.99
190	Microphthalmia/coloboma 11	Enrichment	FZD5	1.99
191	Immunodeficiency 97 with autoinflammation	Enrichment	PIK3CG	1.99
192	Glioma susceptibility 2	Enrichment	PTEN	1.99
193	Achondroplasia, severe, with developmental delay and acanthosis nigricans	Enrichment	FGFR3	1.99
194	Ductal carcinoma in situ	Enrichment	TP53	1.99
195	Kosaki overgrowth syndrome	Enrichment	PDGFRB	1.99
196	Hartsfield syndrome	Enrichment	FGFR1	1.99
197	Congenital heart defects, multiple types, 7	Enrichment	FLT4	1.99
198	Tetraamelia syndrome 2	Enrichment	RSPO2	1.99
199	Ocular pterygium-digital keloid dysplasia syndrome	Enrichment	PDGFRB	1.99
200	Autoinflammation with episodic fever and lymphadenopathy	Enrichment	RIPK1	1.99
201	Trigonitis	Enrichment	RAF1	1.99
202	Thyroid gland undifferentiated carcinoma	Enrichment	TP53	1.99
203	Tufted angioma of skin	Enrichment	KDR	1.99
204	Craniometadiaphyseal osteosclerosis with hip dysplasia	Enrichment	AXIN1	1.99
205	Small-cell carcinoma of the ovary of hypercalcemic type	Enrichment	TP53	1.99
206	Arthrogryposis, distal, type 11	Enrichment	MET	1.99
207	Lacrimoauriculodentodigital syndrome 2	Enrichment	FGFR3	1.99
208	Lrp5-related primary osteoporosis	Enrichment	LRP5	1.99
209	Capillary hemangioma	Enrichment	AKT3	1.99
210	Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype	Enrichment	TP53	1.99
211	Palmoplantar keratoderma-xx sex reversal-predisposition to squamous cell carcinoma syndrome	Enrichment	RSPO1	1.99
212	Immunodeficiency 112	Enrichment	MAP3K14	1.99
213	Congenital pulmonary airway malformation	Enrichment	KRAS	1.99
214	Choroid plexus cancer	Enrichment	TP53	1.99
215	Familial adenomatous polyposis	Enrichment	APC	1.99
216	Fgfr3-related chondrodysplasia	Enrichment	FGFR3	1.99
217	Syringocystadenoma papilliferum	Enrichment	BRAF	1.99
218	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	Enrichment	FGFR3	1.99
219	Pleomorphic xanthoastrocytoma	Enrichment	TP53	1.99
220	Ganglioglioma	Enrichment	BRAF	1.99
221	Nongerminomatous germ cell tumor	Enrichment	BRAF	1.99
222	Phace syndrome	Enrichment	BRAF	1.99
223	Gardner syndrome	Enrichment	APC	1.99
224	Osteosclerosis-developmental delay-craniosynostosis syndrome	Enrichment	LRP5	1.99
225	Isolated megalencephaly	Enrichment	TBC1D7	1.99
226	5q22 microdeletion syndrome	Enrichment	APC	1.99
227	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Enrichment	PTEN	1.99
228	Attenuated familial adenomatous polyposis	Enrichment	APC	1.99
229	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	1.99
230	Classic hairy cell leukemia	Enrichment	BRAF	1.99
231	Intestinal polyposis syndrome	Enrichment	STK11	1.99
232	Hartsfield-bixler-demyer syndrome	Enrichment	FGFR1	1.99
233	Non-syndromic unicoronal craniosynostosis	Enrichment	FGFR2	1.99
234	Serous carcinoma of the corpus uteri	Enrichment	ERBB2	1.99
235	Nik deficiency	Enrichment	MAP3K14	1.99
236	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	1.99
237	Rhabdomyosarcoma	Enrichment	PTEN, TP53	1.94
238	Melanoma, cutaneous malignant 1	Enrichment	BRAF, STK11	1.89
239	Dandy-walker syndrome	Enrichment	BRAF, PDGFRB	1.89
240	Polycystic liver disease	Enrichment	LRP5, LRP6	1.89
241	Autosomal dominant polycystic liver disease	Enrichment	LRP5, LRP6	1.89
242	Craniosynostosis	Enrichment	FGFR2, FGFR3	1.76
243	Endometrial cancer	Enrichment	FGFR2, PTEN	1.72
244	Lymphatic malformation 1	Enrichment	FLT4	1.69
245	Peutz-jeghers syndrome	Enrichment	STK11	1.69
246	Myeloproliferative disorder, chronic, with eosinophilia	Enrichment	PDGFRB	1.69
247	Fibromatosis, gingival, 1	Enrichment	SOS1	1.69
248	Tooth agenesis, selective, 4	Enrichment	WNT10A	1.69
249	Adrenocortical carcinoma, hereditary	Enrichment	TP53	1.69
250	Van buchem disease	Enrichment	LRP5	1.69
251	Schopf-schulz-passarge syndrome	Enrichment	WNT10A	1.69
252	Visceral neuropathy, familial, 1, autosomal recessive	Enrichment	ERBB3	1.69
253	Intracranial hypertension, idiopathic	Enrichment	FLT4	1.69
254	Omodysplasia 1	Enrichment	GPC6	1.69
255	Ulna and fibula, absence of, with severe limb deficiency	Enrichment	WNT7A	1.69
256	Odontoonychodermal dysplasia	Enrichment	WNT10A	1.69
257	Hyperinsulinemic hypoglycemia, familial, 4	Enrichment	INSR	1.69
258	Aural atresia, congenital	Enrichment	FGFR2	1.69
259	Keratosis, seborrheic	Enrichment	FGFR3	1.69
260	Osteogenesis imperfecta, type xv	Enrichment	WNT1	1.69
261	Ras-associated autoimmune leukoproliferative disorder	Enrichment	KRAS	1.69
262	Roifman-chitayat syndrome	Enrichment	PIK3CD	1.69
263	Angioma, tufted	Enrichment	KDR	1.69
264	Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly	Enrichment	WNT7A	1.69
265	Lymphoma, hodgkin, classic	Enrichment	TP53	1.69
266	Antley-bixler syndrome without genital anomalies or disordered steroidogenesis	Enrichment	FGFR2	1.69
267	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	1.69
268	Cebalid syndrome	Enrichment	MTOR	1.69
269	Infantile myofibromatosis	Enrichment	PDGFRB	1.69
270	Immunodeficiency 127	Enrichment	TNF	1.69
271	Childhood hepatocellular carcinoma	Enrichment	MET	1.69
272	Polyhydramnios, megalencephaly, and symptomatic epilepsy	Enrichment	STRADA	1.69
273	Delayed puberty, self-limited	Enrichment	LGR4	1.69
274	Senior-loken syndrome 7	Enrichment	AKT3	1.69
275	Split hand-foot malformation	Enrichment	FGFR2	1.69
276	Rosette-forming glioneuronal tumor	Enrichment	FGFR1	1.69
277	Papillary renal cell carcinoma	Enrichment	MET	1.69
278	Congenital fibrosarcoma	Enrichment	TP53	1.69
279	Li-fraumeni syndrome 1	Enrichment	TP53	1.69
280	Sarcoma	Enrichment	TP53	1.69
281	Periampullary adenoma	Enrichment	APC	1.69
282	Gastric adenocarcinoma and proximal polyposis of the stomach	Enrichment	APC	1.69
283	Immune system disease	Enrichment	PIK3CD	1.69
284	Hodgkin's lymphoma	Enrichment	TP53	1.69
285	Bardet-biedl syndrome 16	Enrichment	AKT3	1.69
286	Smith-kingsmore syndrome	Enrichment	MTOR	1.69
287	Hereditary lymphedema i	Enrichment	FLT4	1.69
288	Immunodeficiency 57 with autoinflammation	Enrichment	RIPK1	1.69
289	Interfrontal craniofaciosynostosis	Enrichment	FGFR1	1.69
290	Autosomal dominant nonsyndromic deafness	Enrichment	FGFR2	1.69
291	Chronic eosinophilic leukemia	Enrichment	PDGFRA	1.69
292	Vacterl with hydrocephalus	Enrichment	PTEN	1.69
293	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality	Enrichment	PDGFRA	1.69
294	Osteosclerosis	Enrichment	LRP5	1.69
295	Juvenile polyposis of infancy	Enrichment	PTEN	1.69
296	Pleomorphic rhabdomyosarcoma	Enrichment	TP53	1.69
297	Primary ovarian insufficiency	Enrichment	IGF2R, KDR, RICTOR	1.65
298	Brittle bone disorder	Enrichment	LRP5, WNT1	1.64
299	Tetralogy of fallot	Enrichment	FLT4, KDR	1.54
300	Hydrops fetalis, nonimmune	Enrichment	FLT4, FZD6	1.54
301	Desmoid disease, hereditary	Enrichment	APC	1.52
302	Achondroplasia	Enrichment	FGFR3	1.52
303	Hypogonadotropic hypogonadism 2 with or without anosmia	Enrichment	FGFR1	1.52
304	Larsen syndrome	Enrichment	FGFR3	1.52
305	Ataxia-telangiectasia	Enrichment	BRAF	1.52
306	Nail disorder, nonsyndromic congenital, 4	Enrichment	RSPO4	1.52
307	Mycosis fungoides	Enrichment	TNFRSF1B	1.52
308	Simpson-golabi-behmel syndrome, type 1	Enrichment	GPC3	1.52
309	Partington syndrome	Enrichment	POLA1	1.52
310	Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies	Enrichment	WNT4	1.52
311	Microphthalmia, syndromic 9	Enrichment	WNT7B	1.52
312	Polycystic kidney disease, infantile severe, with tuberous sclerosis	Enrichment	TSC2	1.52
313	Tooth agenesis, selective, 2	Enrichment	WNT10A	1.52
314	Myoglobinuria, acute recurrent, autosomal recessive	Enrichment	LPIN1	1.52
315	Osteopetrosis, autosomal dominant 1	Enrichment	LRP5	1.52
316	Nuchal bleb, familial	Enrichment	SOS1	1.52
317	Langerhans cell histiocytosis	Enrichment	BRAF	1.52
318	Osteogenic sarcoma	Enrichment	TP53	1.52
319	Psoriatic arthritis	Enrichment	TNF	1.52
320	Nasopharyngeal carcinoma	Enrichment	TP53	1.52
321	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3R1	1.52
322	Tuberous sclerosis 2	Enrichment	TSC2	1.52
323	Chromosome 8p11 myeloproliferative syndrome	Enrichment	FGFR1	1.52
324	Cenani-lenz syndactyly syndrome	Enrichment	APC	1.52
325	Macrocephaly/megalencephaly syndrome, autosomal recessive	Enrichment	TBC1D7	1.52
326	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	1.52
327	Tethered spinal cord syndrome	Enrichment	BRAF	1.52
328	Desmoid tumor	Enrichment	APC	1.52
329	Nail disease	Enrichment	FZD6	1.52
330	Atypical teratoid rhabdoid tumor	Enrichment	TP53	1.52
331	Anaplastic astrocytoma	Enrichment	TP53	1.52
332	Xanthinuria, type ii	Enrichment	TSC2	1.52
333	Squamous cell carcinoma	Enrichment	TP53	1.52
334	Adenocarcinoma	Enrichment	TP53	1.52
335	Migraine without aura	Enrichment	TNF	1.52
336	Laryngeal squamous cell carcinoma	Enrichment	PTEN	1.52
337	Bone osteosarcoma	Enrichment	TP53	1.52
338	Spermatocytoma	Enrichment	FGFR3	1.52
339	Tetraamelia syndrome	Enrichment	RSPO2	1.52
340	Growth delay due to insulin-like growth factor i resistance	Enrichment	IGF1R	1.52
341	Colon adenocarcinoma	Enrichment	APC	1.52
342	Advanced sleep phase syndrome	Enrichment	CSNK1D	1.52
343	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	1.52
344	Renal cell carcinoma	Enrichment	MET	1.52
345	Saczary syndrome	Enrichment	TNFRSF1B	1.52
346	Prostate cancer	Enrichment	PTEN, TP53	1.45
347	Schimmelpenning-feuerstein-mims syndrome	Enrichment	KRAS	1.39
348	Diffuse gastric and lobular breast cancer syndrome	Enrichment	KRAS	1.39
349	Acyl-coa dehydrogenase, very long-chain, deficiency of	Enrichment	DVL2	1.39
350	Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive	Enrichment	WNT10A	1.39
351	Small cell cancer of the lung	Enrichment	TP53	1.39
352	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.39
353	Barrett esophagus	Enrichment	ERBB2	1.39
354	Orofacial cleft	Enrichment	LRP6	1.39
355	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	KRAS	1.39
356	Ectodermal dysplasia	Enrichment	WNT10A	1.39
357	Embryonal rhabdomyosarcoma	Enrichment	TP53	1.39
358	Pilocytic astrocytoma	Enrichment	KRAS	1.39
359	Newborn respiratory distress syndrome	Enrichment	BRAF	1.39
360	Hereditary recurrent myoglobinuria	Enrichment	LPIN1	1.39
361	Eyelid coloboma	Enrichment	FZD5	1.39
362	Cerebral malaria	Enrichment	TNF	1.39
363	Non-syndromic bicoronal craniosynostosis	Enrichment	FGFR3	1.39
364	Vitreoretinopathy	Enrichment	LRP5	1.39
365	Orofacial clefting syndrome	Enrichment	LRP6	1.39
366	Gingival fibromatosis	Enrichment	SOS1	1.39
367	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	SOS2	1.39
368	Lens coloboma	Enrichment	FZD5	1.39
369	Norrie disease	Enrichment	FZD4	1.30
370	Rhabdomyosarcoma 2	Enrichment	TP53	1.30
371	Macrocephaly/autism syndrome	Enrichment	PTEN	1.30
372	Insulin-like growth factor i	Enrichment	IGF1R	1.30
373	Pre-eclampsia	Enrichment	FLT1	1.30
374	Lymphoma	Enrichment	TP53	1.30
375	Holoprosencephaly	Enrichment	FGFR1	1.30
376	Hemangioma	Enrichment	PTEN	1.30
377	Persistent hyperplastic primary vitreous	Enrichment	FZD4	1.30
378	Vascular dementia	Enrichment	TNF	1.30
379	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Enrichment	WNT10A	1.30
380	Coloboma of choroid and retina	Enrichment	FZD5	1.30
381	Generalized juvenile polyposis/juvenile polyposis coli	Enrichment	STK11	1.30
382	Li-fraumeni syndrome	Enrichment	TP53	1.22
383	Coloboma of optic nerve	Enrichment	FZD5	1.22
384	Split-hand/foot malformation 1	Enrichment	FGFR2	1.22
385	Holoprosencephaly 1	Enrichment	FGFR1	1.22
386	Wilms tumor 5	Enrichment	BRAF	1.22
387	Renal dysplasia, cystic	Enrichment	WNT9B	1.22
388	Inflammatory bowel disease 25, autosomal recessive	Enrichment	RIPK1	1.22
389	Renal hypoplasia	Enrichment	WNT9B	1.22
390	Keratoconus	Enrichment	TSC1	1.22
391	Diarrhea	Enrichment	WNT2B	1.22
392	Adrenocortical carcinoma	Enrichment	TP53	1.22
393	Il10-related early-onset inflammatory bowel disease	Enrichment	RIPK1	1.22
394	Multicystic kidney dysplasia	Enrichment	FZD3	1.22
395	Multicystic dysplastic kidney	Enrichment	FZD3	1.22
396	Leukemia, acute myeloid	Enrichment	KRAS, TP53	1.20
397	Esophageal cancer	Enrichment	TP53	1.16
398	Polycystic kidney disease 1 with or without polycystic liver disease	Enrichment	TSC2	1.16
399	Coats disease	Enrichment	FZD4	1.16
400	Gastrointestinal stromal tumor	Enrichment	PDGFRA	1.16
401	Capillary malformation-arteriovenous malformation 1	Enrichment	KRAS	1.16
402	Leukemia, chronic myeloid	Enrichment	KRAS	1.16
403	Polycystic kidney disease 1	Enrichment	TSC2	1.16
404	Essential thrombocythemia	Enrichment	TP53	1.16
405	Megacolon	Enrichment	AKT3	1.16
406	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	TP53	1.16
407	West syndrome	Enrichment	CSNK1E, TSC2	1.13
408	Arthrogryposis, distal, type 1a	Enrichment	MET	1.10
409	Basal ganglia calcification, idiopathic, 1	Enrichment	PDGFRB	1.10
410	Renal hypodysplasia/aplasia 1	Enrichment	WNT9B	1.10
411	Isolated split hand-split foot malformation	Enrichment	WNT10B	1.10
412	Tooth agenesis, selective, 1	Enrichment	AXIN2	1.05
413	Cardiomyopathy, familial hypertrophic, 4	Enrichment	BRAF	1.05
414	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	RAC1	1.05
415	Hypogonadotropic hypogonadism	Enrichment	FGFR1	1.05
416	Ventricular septal defect	Enrichment	BRAF	1.05
417	Colonic benign neoplasm	Enrichment	APC	1.05
418	Renal agenesis, bilateral	Enrichment	WNT9B	1.05
419	Congenital nervous system abnormality	Enrichment	FGFR3, PTEN, TSC2	1.02
420	Nervous system disease	Enrichment	FGFR3, PTEN, TSC2	1.02
421	Cat eye syndrome	Enrichment	FZD5	1.01
422	Leukemia, chronic lymphocytic	Enrichment	TP53	1.01
423	Meier-gorlin syndrome 1	Enrichment	FGFR2	1.01
424	Polymicrogyria	Enrichment	AKT3	1.01
425	Familial colorectal cancer	Enrichment	TP53	1.01
426	Primary bone dysplasia	Enrichment	FGFR3	1.01
427	Immune deficiency disease	Enrichment	RIPK1	0.97
428	Asthma	Enrichment	TNF	0.97
429	Meningioma, familial	Enrichment	PTEN	0.97
430	Myelodysplastic syndrome	Enrichment	TP53	0.97
431	Osteochondrodysplasia	Enrichment	FGFR3	0.97
432	Uterine corpus cancer	Enrichment	PTEN	0.97
433	Specific learning disability	Enrichment	MAPK1	0.97
434	Septooptic dysplasia	Enrichment	FGFR1	0.93
435	Juvenile myelomonocytic leukemia	Enrichment	KRAS	0.93
436	Renal hypodysplasia/aplasia 3	Enrichment	FGFR3	0.93
437	Aortic valve disease 1	Enrichment	SOS1	0.90
438	Microphthalmia/coloboma 12	Enrichment	FZD5	0.90
439	Osteogenesis imperfecta, type iv	Enrichment	WNT1	0.90
440	Alzheimer's disease	Enrichment	TNF	0.90
441	Chronic kidney disease	Enrichment	WNT9B	0.90
442	Hypogonadotropic hypogonadism 7 with or without anosmia	Enrichment	FGFR1	0.87
443	Medulloblastoma	Enrichment	APC	0.87
444	Cleft lip/palate	Enrichment	PDGFRA	0.87
445	46,xy partial gonadal dysgenesis	Enrichment	SOS1	0.87
446	Coloboma of macula	Enrichment	FZD5	0.84
447	Osteogenesis imperfecta, type iii	Enrichment	WNT1	0.84
448	Lynch syndrome	Enrichment	KRAS	0.84
449	Autosomal dominant polycystic kidney disease	Enrichment	TSC2	0.84
450	Kidney disease	Enrichment	TSC1	0.84
451	Rare genetic intellectual disability	Enrichment	MTOR	0.84
452	Microform holoprosencephaly	Enrichment	FGFR1	0.82
453	Lobar holoprosencephaly	Enrichment	FGFR1	0.82
454	Heart, malformation of	Enrichment	MAPK1	0.77
455	Semilobar holoprosencephaly	Enrichment	FGFR1	0.77
456	Normosmic congenital hypogonadotropic hypogonadism	Enrichment	FGFR1	0.77
457	Macs syndrome	Enrichment	WNT7B	0.73
458	Dilated cardiomyopathy	Enrichment	BRAF, RAF1	0.70
459	Microphthalmia	Enrichment	WNT7B	0.69
460	Diamond-blackfan anemia 1	Enrichment	TP53	0.68
461	Malaria	Enrichment	TNF	0.68
462	Kallmann syndrome	Enrichment	FGFR1	0.68
463	Parkinson disease, late-onset	Enrichment	EIF4G1	0.66
464	Cardiomyopathy, familial hypertrophic, 1	Enrichment	RAF1	0.66
465	Developmental and epileptic encephalopathy 1	Enrichment	CSNK1E	0.64
466	Connective tissue disease	Enrichment	FGFR3	0.55
467	Familial hypertrophic cardiomyopathy	Enrichment	RAF1	0.54
468	Severe combined immunodeficiency	Enrichment	IKBKB	0.54
469	Left ventricular noncompaction	Enrichment	RAF1	0.52
470	Autism spectrum disorder	Enrichment	PTEN, TSC2	0.51
471	Diamond-blackfan anemia	Enrichment	TP53	0.51
472	Systemic lupus erythematosus	Enrichment	TNF	0.48
473	Cerebral palsy	Enrichment	PDGFRB	0.48
474	Benign epilepsy with centrotemporal spikes	Enrichment	STRADA	0.46
475	Distal arthrogryposis	Enrichment	FZD3	0.45
476	Centralopathic epilepsy	Enrichment	STRADA	0.45
477	Microcephaly	Enrichment	IGF1R, MAPK1	0.44
478	Body mass index quantitative trait locus 11	Enrichment	SDC3	0.39
479	Autosomal dominant non-syndromic intellectual disability	Enrichment	ERBB4	0.39
480	Hypertelorism	Enrichment	FGFR2	0.38
481	Familial isolated dilated cardiomyopathy	Enrichment	RAF1	0.38
482	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	ERBB4	0.35
483	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	MET	0.22
484	Hereditary retinal dystrophy	Enrichment	FZD4, LRP5	0.10
485	Fundus dystrophy	Enrichment	FZD4, LRP5	0.10

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

mTOR Signaling

Pathway Network for mTOR Signaling

Member Pathways for mTOR Signaling

Pathways in the mTOR Signaling SuperPath

Associated Genes for mTOR Signaling

Associated Disorders for mTOR Signaling

Disorders associated with mTOR Signaling SuperPath

STRING Interaction Network for mTOR Signaling

Sources for mTOR Signaling