Endometrial cancer

Pathway network for the Endometrial cancer SuperPath

Sources:

WikiPathways
GeneGo (Thomson Reuters)

Pathways in the Endometrial cancer SuperPath

#	Name	Source	Genes
1	Endometrial cancer	WikiPathways	AKT1 AKT2 AKT3 APC APC2 ARAF AXIN1 AXIN2 BAD BAK1 BAX BRAF CASP9 CCND1 CDH1 CDKN1A CTNNA1 CTNNA2 CTNNA3 CTNNB1 DDB2 EGF EGFR ELK1 ERBB2 FGF1 FGF2 FGFR1 FGFR2 FGFR3 FOS FOXO3 GADD45A GADD45B GADD45G GRB2 GSK3B HRAS ILK KRAS LEF1 MAP2K1 MAP2K2 MAPK1 MAPK3 MYC NRAS PDPK1 PIK3CA PIK3CB PIK3CD PIK3R1 PIK3R2 PIK3R3 POLK PTEN RAF1 SOS1 SOS2 TCF7 TCF7L1 TCF7L2 TP53 (see all 63) (see less)
2	Pancreatic adenocarcinoma pathway	WikiPathways	AKT1 AKT2 AKT3 ARAF ARHGEF6 BAD BAK1 BAX BCL2L1 BRAF BRCA2 BUB1B-PAK6 CASP9 CCND1 CDC42 CDK4 CDK6 CDKN1A CDKN2A CHUK DDB2 DUSP6 E2F1 E2F2 E2F3 EGF EGFR ERBB2 GADD45A GADD45B GADD45G IKBKB IKBKG JAK1 KRAS MAP2K1 MAP2K2 MAPK1 MAPK10 MAPK3 MAPK8 MAPK9 MTOR NFKB1 PAK1 PAK2 PAK3 PAK4 PAK5 PEBP1 PIK3CA PIK3CB PIK3CD PIK3R1 PIK3R2 PIK3R3 PLD1 POLK PRKCD RAC1 RAC2 RAC3 RAD51 RAF1 RALA RALB RALBP1 RALGDS RB1 RELA RHOA RIPK4 RPS6KB1 RPS6KB2 SMAD2 SMAD3 SMAD4 STAT1 STAT3 TGFA TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TIAM1 TP53 VEGFA (see all 88) (see less)
3	Chromosomal and microsatellite instability in colorectal cancer	WikiPathways	AKT1 AKT2 AKT3 APC APC2 APPL1 ARAF AXIN1 AXIN2 BAD BAK1 BAX BBC3 BCL2 BCL2L11 BIRC5 BRAF CASP3 CASP9 CCND1 CDKN1A CSNK1A1 CSNK1A1L CTNNB1 CYCS DCC DDB2 EXOC2 FOS GADD45A GADD45B GADD45G GSK3B JUN KRAS LEF1 MAP2K1 MAPK1 MAPK10 MAPK3 MAPK8 MAPK9 MLH1 MSH2 MSH3 MSH6 MYC NTN1 PMAIP1 POLK PTGS2 RAC1 RAC2 RAC3 RAF1 RALA RALB RALGDS REL RHOA SMAD2 SMAD3 SMAD4 TBK1 TCF7 TCF7L1 TCF7L2 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TP53 (see all 73) (see less)
4	Non-small cell lung cancer	WikiPathways	AKT1 AKT2 AKT3 ALK ARAF BAD BAK1 BAX BID BRAF CASP3 CASP8 CASP9 CCND1 CDK4 CDK6 CDKN1A CDKN2A CRABP1 CRABP2 CYCS DDB2 E2F1 E2F2 E2F3 EGF EGFR EML4 ERBB2 FHIT FOXO3 GADD45A GADD45B GADD45G HRAS JAK3 KRAS MAP2K1 MAP2K2 MAPK1 MAPK3 NRAS PDK1 PIK3CA PIK3CB PIK3CD PIK3R1 PIK3R2 PIK3R3 PLCG1 PLCG2 POLK PRKCA PRKCB PRKCG RAF1 RARB RASSF1 RASSF5 RB1 RXRA RXRB RXRG SOS1 SOS2 STAT3 STAT5A STAT5B STK4 TGFA TP53 (see all 71) (see less)
5	Melanoma	WikiPathways	AKT1 AKT2 AKT3 ARAF BAD BAK1 BAX BRAF CALM1 CALM2 CALM3 CALML3 CALML4 CALML5 CALML6 CCND1 CDH1 CDK4 CDK6 CDKN1A CDKN2A CREB1 DDB2 E2F1 E2F2 E2F3 ELK1 ERBB4 ETS1 FOS GADD45A GADD45B GADD45G GRB2 GRIN2A GRM3 HRAS KDR KIT KRAS LAMTOR3 MAP2K1 MAP2K2 MAPK1 MAPK3 MDM2 MITF NF1 NRAS PAK1 PIK3CA PIK3CB PIK3CD PIK3R1 PIK3R2 PIK3R3 POLK PREX2 PTEN RAC1 RAF1 RB1 SHC2 SOS1 SOS2 TP53 VCL WHR1 (see all 68) (see less)
6	Signal transduction PTEN pathway	GeneGo (Thomson Reuters)	AKT1 AKT2 AKT3 BAD BCAR1 CASP3 CASP9 CBL CDKN1A CTNNB1 EGF EGFR FOXO3 GRB2 GSK3B HRAS IGF1 IGF1R ILK IRS1 ITGA5 ITGB1 JUN LEF1 MAGI2 MAGI3 MAP2K1 MAP2K2 MAPK1 MAPK3 MDM2 MTOR PCNA PDPK1 PIK3CA PIK3CB PIK3CD PIK3R1 PIK3R2 PIK3R3 PTEN PTK2 PXN RAF1 RHEB SHC1 SOS1 SOS2 SRC TCF7 TCF7L1 TCF7L2 TP53 TSC2 (see all 54) (see less)

Gene overlap in member pathways for Endometrial cancer SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	TP53	Tumor Protein P53	Protein Coding	6
2	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	6
3	BAD	BCL2 Associated Agonist Of Cell Death	Protein Coding	6
4	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	6
5	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	6
6	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	6
7	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	6
8	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	6
9	CDKN1A	Cyclin Dependent Kinase Inhibitor 1A	Protein Coding	6
10	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	6
11	CASP9	Caspase 9	Protein Coding	5
12	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	5
13	CCND1	Cyclin D1	Protein Coding	5
14	BAX	BCL2 Associated X, Apoptosis Regulator	Protein Coding	5
15	BAK1	BCL2 Antagonist/Killer 1	Protein Coding	5
16	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	5
17	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	5
18	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	5
19	PIK3CD	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta	Protein Coding	5
20	PIK3CB	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta	Protein Coding	5
21	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	5
22	POLK	DNA Polymerase Kappa	Protein Coding	5
23	GADD45B	Growth Arrest And DNA Damage Inducible Beta	Protein Coding	5
24	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	5
25	ARAF	A-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	5
26	GADD45A	Growth Arrest And DNA Damage Inducible Alpha	Protein Coding	5
27	DDB2	Damage Specific DNA Binding Protein 2	Protein Coding	5
28	PIK3R3	Phosphoinositide-3-Kinase Regulatory Subunit 3	Protein Coding	5
29	GADD45G	Growth Arrest And DNA Damage Inducible Gamma	Protein Coding	5
30	SOS2	SOS Ras/Rho Guanine Nucleotide Exchange Factor 2	Protein Coding	4
31	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	4
32	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	4
33	EGFR	Epidermal Growth Factor Receptor	Protein Coding	4
34	EGF	Epidermal Growth Factor	Protein Coding	4
35	TCF7L1	Transcription Factor 7 Like 1	Protein Coding	3
36	TCF7L2	Transcription Factor 7 Like 2	Protein Coding	3
37	TCF7	Transcription Factor 7	Protein Coding	3
38	PTEN	Phosphatase And Tensin Homolog	Protein Coding	3
39	LEF1	Lymphoid Enhancer Binding Factor 1	Protein Coding	3
40	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	3
41	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	3
42	FOS	Fos Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	3
43	FOXO3	Forkhead Box O3	Protein Coding	3
44	ERBB2	Erb-B2 Receptor Tyrosine Kinase 2	Protein Coding	3
45	CTNNB1	Catenin Beta 1	Protein Coding	3
46	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	3
47	RB1	RB Transcriptional Corepressor 1	Protein Coding	3
48	RAC1	Rac Family Small GTPase 1	Protein Coding	3
49	E2F3	E2F Transcription Factor 3	Protein Coding	3
50	E2F2	E2F Transcription Factor 2	Protein Coding	3
51	E2F1	E2F Transcription Factor 1	Protein Coding	3
52	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	3
53	CDK6	Cyclin Dependent Kinase 6	Protein Coding	3
54	CDK4	Cyclin Dependent Kinase 4	Protein Coding	3
55	CASP3	Caspase 3	Protein Coding	3
56	CDH1	Cadherin 1	Protein Coding	2
57	AXIN2	Axin 2	Protein Coding	2
58	AXIN1	Axin 1	Protein Coding	2
59	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	2
60	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	2
61	ILK	Integrin Linked Kinase	Protein Coding	2
62	APC	APC Regulator Of Wnt Signaling Pathway	Protein Coding	2
63	APC2	APC Regulator Of Wnt Signaling Pathway 2	Protein Coding	2
64	ELK1	ETS Transcription Factor ELK1	Protein Coding	2
65	RALB	RAS Like Proto-Oncogene B	Protein Coding	2
66	RALA	RAS Like Proto-Oncogene A	Protein Coding	2
67	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	2
68	TGFBR1	Transforming Growth Factor Beta Receptor 1	Protein Coding	2
69	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	2
70	TGFB2	Transforming Growth Factor Beta 2	Protein Coding	2
71	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	2
72	TGFA	Transforming Growth Factor Alpha	Protein Coding	2
73	STAT3	Signal Transducer And Activator Of Transcription 3	Protein Coding	2
74	RALGDS	Ral Guanine Nucleotide Dissociation Stimulator	Protein Coding	2
75	RAC3	Rac Family Small GTPase 3	Protein Coding	2
76	RAC2	Rac Family Small GTPase 2	Protein Coding	2
77	MAPK10	Mitogen-Activated Protein Kinase 10	Protein Coding	2
78	MAPK9	Mitogen-Activated Protein Kinase 9	Protein Coding	2
79	MAPK8	Mitogen-Activated Protein Kinase 8	Protein Coding	2
80	PAK1	P21 (RAC1) Activated Kinase 1	Protein Coding	2
81	SMAD4	SMAD Family Member 4	Protein Coding	2
82	SMAD3	SMAD Family Member 3	Protein Coding	2
83	SMAD2	SMAD Family Member 2	Protein Coding	2
84	RHOA	Ras Homolog Family Member A	Protein Coding	2
85	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	2
86	CYCS	Cytochrome C, Somatic	Protein Coding	2
87	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	2
88	MDM2	MDM2 Proto-Oncogene	Protein Coding	2
89	CTNNA3	Catenin Alpha 3	Protein Coding	1
90	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	1
91	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	1
92	FGFR1	Fibroblast Growth Factor Receptor 1	Protein Coding	1
93	FGF2	Fibroblast Growth Factor 2	Protein Coding	1
94	FGF1	Fibroblast Growth Factor 1	Protein Coding	1
95	CTNNA2	Catenin Alpha 2	Protein Coding	1
96	CTNNA1	Catenin Alpha 1	Protein Coding	1
97	CDC42	Cell Division Cycle 42	Protein Coding	1
98	IKBKG	Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma	Protein Coding	1
99	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	1
100	TIAM1	TIAM Rac1 Associated GEF 1	Protein Coding	1
101	STAT1	Signal Transducer And Activator Of Transcription 1	Protein Coding	1
102	BRCA2	BRCA2 DNA Repair Associated	Protein Coding	1
103	RPS6KB2	Ribosomal Protein S6 Kinase B2	Protein Coding	1
104	RPS6KB1	Ribosomal Protein S6 Kinase B1	Protein Coding	1
105	BCL2L1	BCL2 Like 1	Protein Coding	1
106	RELA	RELA Proto-Oncogene, NF-KB Subunit	Protein Coding	1
107	RAD51	RAD51 Recombinase	Protein Coding	1
108	PRKCD	Protein Kinase C Delta	Protein Coding	1
109	RIPK4	Receptor Interacting Serine/Threonine Kinase 4	Protein Coding	1
110	PLD1	Phospholipase D1	Protein Coding	1
111	PAK3	P21 (RAC1) Activated Kinase 3	Protein Coding	1
112	PAK2	P21 (RAC1) Activated Kinase 2	Protein Coding	1
113	PEBP1	Phosphatidylethanolamine Binding Protein 1	Protein Coding	1
114	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	1
115	JAK1	Janus Kinase 1	Protein Coding	1
116	IKBKB	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta	Protein Coding	1
117	DUSP6	Dual Specificity Phosphatase 6	Protein Coding	1
118	CHUK	Component Of Inhibitor Of Nuclear Factor Kappa B Kinase Complex	Protein Coding	1
119	RALBP1	RalA Binding Protein 1	Protein Coding	1
120	PAK4	P21 (RAC1) Activated Kinase 4	Protein Coding	1
121	ARHGEF6	Rac/Cdc42 Guanine Nucleotide Exchange Factor 6	Protein Coding	1
122	BUB1B-PAK6	BUB1B-PAK6 Readthrough	Protein Coding	1
123	PAK5	P21 (RAC1) Activated Kinase 5	Protein Coding	1
124	NTN1	Netrin 1	Protein Coding	1
125	REL	REL Proto-Oncogene, NF-KB Subunit	Protein Coding	1
126	BCL2	BCL2 Apoptosis Regulator	Protein Coding	1
127	PTGS2	Prostaglandin-Endoperoxide Synthase 2	Protein Coding	1
128	PMAIP1	Phorbol-12-Myristate-13-Acetate-Induced Protein 1	Protein Coding	1
129	MSH3	MutS Homolog 3	Protein Coding	1
130	MSH2	MutS Homolog 2	Protein Coding	1
131	MLH1	MutL Homolog 1	Protein Coding	1
132	BIRC5	Baculoviral IAP Repeat Containing 5	Protein Coding	1
133	MSH6	MutS Homolog 6	Protein Coding	1
134	TBK1	TANK Binding Kinase 1	Protein Coding	1
135	BBC3	BCL2 Binding Component 3	Protein Coding	1
136	APPL1	Adaptor Protein, Phosphotyrosine Interacting With PH Domain And Leucine Zipper 1	Protein Coding	1
137	DCC	DCC Netrin 1 Receptor	Protein Coding	1
138	CSNK1A1	Casein Kinase 1 Alpha 1	Protein Coding	1
139	BCL2L11	BCL2 Like 11	Protein Coding	1
140	CSNK1A1L	Casein Kinase 1 Alpha 1 Like	Protein Coding	1
141	EXOC2	Exocyst Complex Component 2	Protein Coding	1
142	CASP8	Caspase 8	Protein Coding	1
143	RASSF5	Ras Association Domain Family Member 5	Protein Coding	1
144	STK4	Serine/Threonine Kinase 4	Protein Coding	1
145	STAT5B	Signal Transducer And Activator Of Transcription 5B	Protein Coding	1
146	STAT5A	Signal Transducer And Activator Of Transcription 5A	Protein Coding	1
147	BID	BH3 Interacting Domain Death Agonist	Protein Coding	1
148	RXRG	Retinoid X Receptor Gamma	Protein Coding	1
149	RXRB	Retinoid X Receptor Beta	Protein Coding	1
150	RXRA	Retinoid X Receptor Alpha	Protein Coding	1
151	RARB	Retinoic Acid Receptor Beta	Protein Coding	1
152	PRKCG	Protein Kinase C Gamma	Protein Coding	1
153	PRKCB	Protein Kinase C Beta	Protein Coding	1
154	PRKCA	Protein Kinase C Alpha	Protein Coding	1
155	PLCG2	Phospholipase C Gamma 2	Protein Coding	1
156	PLCG1	Phospholipase C Gamma 1	Protein Coding	1
157	JAK3	Janus Kinase 3	Protein Coding	1
158	EML4	EMAP Like 4	Protein Coding	1
159	ALK	ALK Receptor Tyrosine Kinase	Protein Coding	1
160	FHIT	Fragile Histidine Triad Diadenosine Triphosphatase	Protein Coding	1
161	CRABP2	Cellular Retinoic Acid Binding Protein 2	Protein Coding	1
162	CRABP1	Cellular Retinoic Acid Binding Protein 1	Protein Coding	1
163	RASSF1	Ras Association Domain Family Member 1	Protein Coding	1
164	PDK1	Pyruvate Dehydrogenase Kinase 1	Protein Coding	1
165	WHR1	Winged Helix Repair Factor 1	Protein Coding	1
166	CALML3	Calmodulin Like 3	Protein Coding	1
167	CALM2	Calmodulin 2	Protein Coding	1
168	CALM1	Calmodulin 1	Protein Coding	1
169	VCL	Vinculin	Protein Coding	1
170	NF1	Neurofibromin 1	Protein Coding	1
171	MITF	Melanocyte Inducing Transcription Factor	Protein Coding	1
172	KIT	KIT Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	1
173	KDR	Kinase Insert Domain Receptor	Protein Coding	1
174	GRM3	Glutamate Metabotropic Receptor 3	Protein Coding	1
175	GRIN2A	Glutamate Ionotropic Receptor NMDA Type Subunit 2A	Protein Coding	1
176	ETS1	ETS Proto-Oncogene 1, Transcription Factor	Protein Coding	1
177	ERBB4	Erb-B2 Receptor Tyrosine Kinase 4	Protein Coding	1
178	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	1
179	CALML6	Calmodulin Like 6	Protein Coding	1
180	CALML4	Calmodulin Like 4	Protein Coding	1
181	LAMTOR3	Late Endosomal/Lysosomal Adaptor, MAPK And MTOR Activator 3	Protein Coding	1
182	CALM3	Calmodulin 3	Protein Coding	1
183	PREX2	Phosphatidylinositol-3,4,5-Trisphosphate Dependent Rac Exchange Factor 2	Protein Coding	1
184	CALML5	Calmodulin Like 5	Protein Coding	1
185	SHC2	SHC Adaptor Protein 2	Protein Coding	1
186	CBL	Cbl Proto-Oncogene	Protein Coding	1
187	IGF1	Insulin Like Growth Factor 1	Protein Coding	1
188	IGF1R	Insulin Like Growth Factor 1 Receptor	Protein Coding	1
189	IRS1	Insulin Receptor Substrate 1	Protein Coding	1
190	ITGA5	Integrin Subunit Alpha 5	Protein Coding	1
191	ITGB1	Integrin Subunit Beta 1	Protein Coding	1
192	PCNA	Proliferating Cell Nuclear Antigen	Protein Coding	1
193	PTK2	Protein Tyrosine Kinase 2	Protein Coding	1
194	PXN	Paxillin	Protein Coding	1
195	RHEB	Ras Homolog, MTORC1 Binding	Protein Coding	1
196	SHC1	SHC Adaptor Protein 1	Protein Coding	1
197	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	1
198	TSC2	TSC Complex Subunit 2	Protein Coding	1
199	BCAR1	BCAR1 Scaffold Protein, Cas Family Member	Protein Coding	1
200	MAGI2	Membrane Associated Guanylate Kinase, WW And PDZ Domain Containing 2	Protein Coding	1
201	MAGI3	Membrane Associated Guanylate Kinase, WW And PDZ Domain Containing 3	Protein Coding	1

Disorders associated with Endometrial cancer SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Rasopathy	Enrichment	BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1, SOS2	16.00
2	Loeys-dietz syndrome	Enrichment	SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2	16.00
3	Lung non-small cell carcinoma	Enrichment	BRAF, EGFR, ERBB2, HRAS, KRAS, MAP2K1, NRAS, PIK3CA	16.00
4	Lip and oral cavity carcinoma	Enrichment	BRAF, CDKN2A, HRAS, KIT, PIK3CA, RB1, TP53	11.52
5	Bladder cancer	Enrichment	BRCA2, CDKN1A, CDKN2A, EGFR, ERBB2, KRAS, PIK3CA, RB1, TP53	11.40
6	Colorectal cancer	Enrichment	AKT1, APC, AXIN2, BAX, BRAF, CCND1, CTNNB1, DCC, MLH1, MSH2, MSH6, SMAD4, TP53	11.00
7	Hemimegalencephaly	Enrichment	AKT3, MTOR, PIK3CA, PTEN, RHEB	10.95
8	Noonan syndrome and noonan-related syndrome	Enrichment	BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1	10.82
9	Noonan syndrome 1	Enrichment	BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1, SOS2	10.81
10	Ovarian cancer	Enrichment	AKT1, APC, AXIN2, CDH1, CTNNB1, EGFR, ERBB2, KRAS, PIK3CA, PTEN, TP53	10.75
11	Gastric cancer	Enrichment	APC, CDH1, ERBB2, FGFR2, KRAS, PIK3CA, PTEN, TP53	10.56
12	Lung cancer susceptibility 3	Enrichment	BRAF, EGFR, ERBB2, KRAS, RB1, TP53	10.30
13	Lung squamous cell carcinoma	Enrichment	ALK, CDKN2A, EGFR, KRAS, PIK3CA	10.30
14	Nevus, epidermal	Enrichment	FGFR3, HRAS, KRAS, NRAS, PIK3CA	10.15
15	Gallbladder cancer	Enrichment	BRAF, CTNNB1, KRAS, PIK3CA, TP53	10.15
16	Adult hepatocellular carcinoma	Enrichment	CTNNB1, EGF, PIK3CA, TP53, TSC2	9.96
17	Melanocytic nevus syndrome, congenital	Enrichment	ALK, BRAF, HRAS, NRAS, RAF1	9.65
18	Lung cancer	Enrichment	ALK, BRAF, CASP8, EGFR, ERBB2, KRAS, PIK3CA	9.59
19	Cardiofaciocutaneous syndrome 1	Enrichment	BRAF, KRAS, MAP2K1, MAP2K2	9.35
20	Cardiofaciocutaneous syndrome	Enrichment	BRAF, KRAS, MAP2K1, MAP2K2	9.35
21	Hereditary breast carcinoma	Enrichment	AKT1, APC, CDH1, KRAS, PIK3CA, PTEN, TP53	8.96
22	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2	8.50
23	Breast cancer	Enrichment	AKT1, APC, JUN, KRAS, MLH1, MSH2, MSH6, TP53	8.22
24	Breast adenocarcinoma	Enrichment	AKT1, KRAS, PIK3CA, TP53	8.20
25	Lynch syndrome	Enrichment	KRAS, MLH1, MSH2, MSH6, TGFBR2	7.95
26	Thyroid cancer, nonmedullary, 2	Enrichment	BRAF, HRAS, NRAS, PTEN	7.83
27	Noonan syndrome 3	Enrichment	HRAS, KRAS, RAF1, SOS1	7.83
28	Pilomyxoid astrocytoma	Enrichment	BRAF, FGFR1, KRAS, RAF1	7.83
29	Follicular thyroid carcinoma	Enrichment	BRAF, HRAS, NRAS, PTEN	7.83
30	Inherited cancer-predisposing syndrome	Enrichment	CDH1, CDK4, CDKN2A, KIT, MITF, NF1, PTEN, RB1, TP53	7.74
31	Hepatocellular carcinoma	Enrichment	APC, AXIN1, CTNNB1, PIK3CA, TP53	7.34
32	Langerhans cell histiocytosis	Enrichment	BRAF, MAP2K1, NRAS	7.02
33	Melanoma	Enrichment	BRAF, CDKN2A, MITF, PTEN	6.93
34	Loeys-dietz syndrome 1	Enrichment	SMAD2, TGFBR1, TGFBR2	6.83
35	Prostate cancer	Enrichment	CDH1, PIK3CA, POLK, PTEN, TP53	6.70
36	Myeloma, multiple	Enrichment	BRAF, CCND1, FGFR3, KRAS, PIK3R2, TP53	6.67
37	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3, PIK3CA, PIK3R2	6.62
38	Focal cortical dysplasia, type ii	Enrichment	MTOR, RHEB, TSC2	6.62
39	Isolated focal cortical dysplasia type ii	Enrichment	MTOR, RHEB, TSC2	6.62
40	Differentiated thyroid carcinoma	Enrichment	ALK, BRAF, HRAS, KRAS, NRAS	6.44
41	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS, KRAS, NRAS	6.42
42	Diffuse gastric and lobular breast cancer syndrome	Enrichment	CDH1, CTNNA1, KRAS	6.42
43	Craniopharyngioma	Enrichment	APC, BRAF, CTNNB1	6.42
44	Rhabdomyosarcoma	Enrichment	CBL, HRAS, PTEN, TP53	6.40
45	Pancreatic cancer	Enrichment	BRCA2, CDKN2A, KRAS, SMAD4, TP53	6.31
46	Mismatch repair cancer syndrome 1	Enrichment	MLH1, MSH2, MSH6	6.22
47	Gliosarcoma	Enrichment	EGFR, FGFR1, FGFR3, TP53	6.13
48	Giant cell glioblastoma	Enrichment	EGFR, FGFR1, FGFR3, TP53	6.02
49	Cowden syndrome 1	Enrichment	EGFR, PIK3CA, PTEN	5.93
50	Melanoma, cutaneous malignant 1	Enrichment	BRAF, CDK4, CDKN2A, MITF	5.88
51	Squamous cell carcinoma, head and neck	Enrichment	EGFR, PTEN, TP53	5.69
52	Endometrial cancer	Enrichment	CDH1, FGFR2, PIK3CA, PTEN	5.62
53	Hepatoblastoma	Enrichment	APC, CTNNB1, FGFR3, TP53	5.62
54	Li-fraumeni syndrome	Enrichment	CDKN2A, MDM2, TP53	5.62
55	Capillary malformation-arteriovenous malformation 1	Enrichment	KRAS, MAP2K1, PIK3CA	5.48
56	Arteriovenous malformation	Enrichment	HRAS, MAP2K1, PIK3CA	5.31
57	Cowden syndrome	Enrichment	AKT1, PIK3CA, PTEN	5.31
58	Esophageal cancer	Enrichment	DCC, TGFBR2, TP53	5.29
59	Hereditary breast ovarian cancer syndrome	Enrichment	CTNNA1, CTNNA2, KRAS, PTEN, TP53	5.27
60	Diffuse large b-cell lymphoma	Enrichment	BRAF, BRCA2, STAT3, TP53	5.23
61	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1, CALM2, CALM3	5.18
62	Myopathy, x-linked, with excessive autophagy	Enrichment	HRAS, MAP2K1, PIK3CA	5.15
63	Meningioma	Enrichment	AKT1, PIK3CA, PTEN	4.89
64	Lynch syndrome 1	Enrichment	MLH1, MSH2, MSH6	4.76
65	Marfan syndrome	Enrichment	TGFB2, TGFBR1, TGFBR2	4.76
66	Familial colorectal cancer	Enrichment	MLH1, MSH2, TP53	4.76
67	Cervical cancer	Enrichment	FGFR3, TP53	4.67
68	Pulmonic stenosis	Enrichment	BRAF, SOS1	4.67
69	Keratosis, seborrheic	Enrichment	FGFR3, PIK3CA	4.67
70	Pfeiffer syndrome	Enrichment	FGFR1, FGFR2	4.67
71	Jackson-weiss syndrome	Enrichment	FGFR1, FGFR2	4.67
72	Encephalocraniocutaneous lipomatosis	Enrichment	FGFR1, KRAS	4.67
73	Ras-associated autoimmune leukoproliferative disorder	Enrichment	KRAS, NRAS	4.67
74	Split hand-foot malformation	Enrichment	FGFR2, LEF1	4.67
75	Rosette-forming glioneuronal tumor	Enrichment	FGFR1, PIK3CA	4.67
76	Cervix carcinoma	Enrichment	FGFR3, TP53	4.67
77	Pleomorphic rhabdomyosarcoma	Enrichment	NF1, TP53	4.61
78	Juvenile myelomonocytic leukemia	Enrichment	KRAS, NF1, NRAS	4.59
79	Muir-torre syndrome	Enrichment	MLH1, MSH2	4.54
80	Loeys-dietz syndrome 2	Enrichment	TGFBR1, TGFBR2	4.54
81	Loeys-dietz syndrome 4	Enrichment	TGFB2, TGFB3	4.54
82	Immune system disease	Enrichment	CDC42, PIK3CD	4.38
83	Leukemia, acute myeloid	Enrichment	KIT, KRAS, NRAS, TP53	4.34
84	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3CA, PIK3R1	4.33
85	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3CD, PIK3R1	4.33
86	Immunodeficiency 14	Enrichment	PIK3CD, PIK3R1	4.33
87	Crouzon syndrome	Enrichment	FGFR2, FGFR3	4.20
88	Desmoid disease, hereditary	Enrichment	APC, CTNNB1	4.20
89	Lacrimoauriculodentodigital syndrome 1	Enrichment	FGFR2, FGFR3	4.20
90	Large congenital melanocytic nevus	Enrichment	HRAS, NRAS	4.20
91	Desmoid tumor	Enrichment	APC, CTNNB1	4.20
92	Spermatocytoma	Enrichment	FGFR3, HRAS	4.20
93	Osteogenic sarcoma	Enrichment	RB1, TP53	4.13
94	Dedifferentiated liposarcoma	Enrichment	CDK4, MDM2	4.13
95	Squamous cell carcinoma	Enrichment	RB1, TP53	4.13
96	Bone osteosarcoma	Enrichment	RB1, TP53	4.13
97	Well-differentiated liposarcoma	Enrichment	CDK4, MDM2	4.13
98	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	BCL2, MYC	4.07
99	Colon adenocarcinoma	Enrichment	APC, MSH6	4.07
100	Arteriovenous malformations of the brain	Enrichment	BRAF, EGFR, KRAS	4.06
101	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3, PIK3R2	4.03
102	Craniosynostosis	Enrichment	CTNNA1, FGFR2, FGFR3	3.99
103	Breast implant-associated anaplastic large cell lymphoma	Enrichment	JAK1, STAT3	3.91
104	Thyroid cancer, nonmedullary, 1	Enrichment	BRAF, TP53	3.90
105	Saethre-chotzen syndrome	Enrichment	FGFR2, FGFR3	3.90
106	Lung sarcomatoid carcinoma	Enrichment	KRAS, TP53	3.90
107	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	KRAS, NRAS	3.90
108	Noonan syndrome with multiple lentigines	Enrichment	BRAF, RAF1	3.90
109	Glioma	Enrichment	FGFR2, PTEN	3.90
110	Ehlers-danlos syndrome	Enrichment	SMAD3, TGFB2, TGFBR2	3.87
111	Small cell cancer of the lung	Enrichment	RB1, TP53	3.83
112	Neurofibromatosis-noonan syndrome	Enrichment	MAP2K2, NF1	3.83
113	Embryonal rhabdomyosarcoma	Enrichment	NF1, TP53	3.83
114	Pilocytic astrocytoma	Enrichment	KRAS, NF1	3.83
115	Insulin-like growth factor i	Enrichment	IGF1, IGF1R	3.81
116	Acute megakaryocytic leukemia	Enrichment	PTEN, TP53	3.81
117	Mirror movements 1	Enrichment	DCC, NTN1	3.77
118	Lynch syndrome 4	Enrichment	MSH2, MSH6	3.77
119	Aortic aneurysm	Enrichment	SMAD3, TGFBR1	3.77
120	Hemifacial hyperplasia	Enrichment	FGFR2, FGFR3	3.68
121	Adrenocortical carcinoma	Enrichment	CTNNB1, TP53	3.64
122	Rhabdomyosarcoma 2	Enrichment	NF1, TP53	3.61
123	Split-hand/foot malformation 1	Enrichment	FGFR2, LEF1	3.50
124	Overgrowth syndrome	Enrichment	MTOR, PIK3R1	3.49
125	Leukemia, chronic myeloid	Enrichment	KRAS, NRAS	3.36
126	Long qt syndrome 1	Enrichment	CALM1, CALM2, CALM3	3.35
127	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	CDKN2A, TP53	3.29
128	Megacolon	Enrichment	AKT3, FHIT	3.25
129	Glioma susceptibility 1	Enrichment	ERBB2, TP53	3.23
130	Lymphoma, non-hodgkin, familial	Enrichment	BRAF, TP53	3.23
131	Type 2 diabetes mellitus	Enrichment	AKT2, IRS1, TCF7L2	3.21
132	Hemihyperplasia, isolated	Enrichment	PIK3CA, RHOA	3.21
133	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3CD, PIK3R1	3.16
134	Primary hyperaldosteronism	Enrichment	BRAF, TP53	3.13
135	Leukemia, chronic lymphocytic	Enrichment	CCND1, TP53	3.03
136	Colonic benign neoplasm	Enrichment	APC, MLH1	3.00
137	Nk-cell enteropathy	Enrichment	IGF1R, PIK3CB	2.93
138	Uterine corpus cancer	Enrichment	MSH2, MSH6	2.82
139	Medulloblastoma	Enrichment	APC, CTNNB1	2.73
140	Acute promyelocytic leukemia	Enrichment	STAT3, STAT5B	2.69
141	Macrodactyly	Enrichment	PIK3CA	2.40
142	Proteus syndrome	Enrichment	AKT1	2.40
143	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	2.40
144	Vacterl association with hydrocephalus	Enrichment	PTEN	2.40
145	Noonan syndrome 5	Enrichment	RAF1	2.40
146	Hypomagnesemia 4, renal	Enrichment	EGF	2.40
147	Noonan syndrome 4	Enrichment	SOS1	2.40
148	Melorheostosis, isolated	Enrichment	MAP2K1	2.40
149	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	2.40
150	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	2.40
151	Cowden syndrome 5	Enrichment	PIK3CA	2.40
152	Cardiofaciocutaneous syndrome 3	Enrichment	MAP2K1	2.40
153	Noonan syndrome 9	Enrichment	SOS2	2.40
154	Accelerated tumor formation	Enrichment	MDM2	2.40
155	Ectodermal dysplasia 17 with or without limb malformations	Enrichment	LEF1	2.40
156	Cerebral cavernous malformations 4	Enrichment	PIK3CA	2.40
157	Noonan syndrome 13	Enrichment	MAPK1	2.40
158	Lessel-kubisch syndrome	Enrichment	MDM2	2.40
159	Short syndrome	Enrichment	PIK3R1	2.40
160	Bone marrow failure syndrome 5	Enrichment	TP53	2.40
161	Papilloma of choroid plexus	Enrichment	TP53	2.40
162	Basal cell carcinoma 7	Enrichment	TP53	2.40
163	Anaplastic thyroid carcinoma	Enrichment	TP53	2.40
164	Papillary tumor of the pineal region	Enrichment	PTEN	2.40
165	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	2.40
166	Hemifacial myohyperplasia	Enrichment	PIK3CA	2.40
167	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	Enrichment	PIK3CA	2.40
168	Melorheostosis	Enrichment	MAP2K1	2.40
169	Leopard syndrome 2	Enrichment	RAF1	2.40
170	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	2.40
171	Cardiofaciocutaneous syndrome 4	Enrichment	MAP2K2	2.40
172	Cowden syndrome 6	Enrichment	AKT1	2.40
173	Immunodeficiency 14b, autosomal recessive	Enrichment	PIK3CD	2.40
174	Ataxia-telangiectasia-like disorder 2	Enrichment	PCNA	2.40
175	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	2.40
176	Glioma susceptibility 2	Enrichment	PTEN	2.40
177	Ductal carcinoma in situ	Enrichment	TP53	2.40
178	Thrombocytopenia 6	Enrichment	SRC	2.40
179	Trigonitis	Enrichment	RAF1	2.40
180	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	2.40
181	Thyroid gland undifferentiated carcinoma	Enrichment	TP53	2.40
182	Small-cell carcinoma of the ovary of hypercalcemic type	Enrichment	TP53	2.40
183	Adenoid ameloblastoma	Enrichment	CTNNB1	2.40
184	Hypospadias	Enrichment	PIK3CA	2.40
185	Capillary hemangioma	Enrichment	AKT3	2.40
186	Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype	Enrichment	TP53	2.40
187	Choroid plexus cancer	Enrichment	TP53	2.40
188	Rare venous malformation	Enrichment	PIK3CA	2.40
189	Diaphragmatic eventration	Enrichment	PIK3CA	2.40
190	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	2.40
191	Pleomorphic xanthoastrocytoma	Enrichment	TP53	2.40
192	Rare combined vascular malformation	Enrichment	PIK3CA	2.40
193	Cavernous lymphangioma	Enrichment	PIK3CA	2.40
194	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	2.40
195	Phakomatosis pigmentokeratotica	Enrichment	HRAS	2.40
196	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Enrichment	PTEN	2.40
197	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	2.40
198	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	2.40
199	Egf-related primary hypomagnesemia with intellectual disability	Enrichment	EGF	2.40
200	Macrodactyly of toe	Enrichment	PIK3CA	2.40
201	Microcystic stromal tumor	Enrichment	CTNNB1	2.40
202	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	2.40
203	Wilms tumor 1	Enrichment	BRAF, BRCA2	2.38
204	Tooth agenesis	Enrichment	AXIN2, FGFR1	2.34
205	Hypochondroplasia	Enrichment	FGFR3	2.33
206	Beare-stevenson cutis gyrata syndrome	Enrichment	FGFR2	2.33
207	Paget disease, extramammary	Enrichment	ERBB2	2.33
208	Osteoglophonic dysplasia	Enrichment	FGFR1	2.33
209	Thanatophoric dysplasia, type i	Enrichment	FGFR3	2.33
210	Trigonocephaly 1	Enrichment	FGFR1	2.33
211	Oculoectodermal syndrome	Enrichment	KRAS	2.33
212	Muenke syndrome	Enrichment	FGFR3	2.33
213	Pallister-killian syndrome	Enrichment	ARAF	2.33
214	Oligodontia-colorectal cancer syndrome	Enrichment	AXIN2	2.33
215	Macular dystrophy, patterned, 2	Enrichment	CTNNA1	2.33
216	Scaphocephaly, maxillary retrusion, and impaired intellectual development	Enrichment	FGFR2	2.33
217	Noonan syndrome 7	Enrichment	BRAF	2.33
218	Leopard syndrome 3	Enrichment	BRAF	2.33
219	Apert syndrome	Enrichment	FGFR2	2.33
220	Melanosis, neurocutaneous	Enrichment	NRAS	2.33
221	Thanatophoric dysplasia, type ii	Enrichment	FGFR3	2.33
222	Caudal duplication anomaly	Enrichment	AXIN1	2.33
223	Noonan syndrome 6	Enrichment	NRAS	2.33
224	Camptodactyly, tall stature, and hearing loss syndrome	Enrichment	FGFR3	2.33
225	Arrhythmogenic right ventricular dysplasia, familial, 13	Enrichment	CTNNA3	2.33
226	Bent bone dysplasia syndrome 1	Enrichment	FGFR2	2.33
227	Visceral neuropathy, familial, 2, autosomal recessive	Enrichment	ERBB2	2.33
228	Cortical dysplasia, complex, with other brain malformations 10	Enrichment	APC2	2.33
229	Cortical dysplasia, complex, with other brain malformations 9	Enrichment	CTNNA2	2.33
230	Intellectual developmental disorder, autosomal recessive 74	Enrichment	APC2	2.33
231	Cardiofaciocutaneous syndrome 2	Enrichment	KRAS	2.33
232	Lymphangioma	Enrichment	BRAF	2.33
233	Crouzon syndrome with acanthosis nigricans	Enrichment	FGFR3	2.33
234	Phace association	Enrichment	BRAF	2.33
235	Achondroplasia, severe, with developmental delay and acanthosis nigricans	Enrichment	FGFR3	2.33
236	Hartsfield syndrome	Enrichment	FGFR1	2.33
237	Sotos syndrome 3	Enrichment	APC2	2.33
238	Craniometadiaphyseal osteosclerosis with hip dysplasia	Enrichment	AXIN1	2.33
239	Lacrimoauriculodentodigital syndrome 2	Enrichment	FGFR3	2.33
240	Breast lobular carcinoma	Enrichment	CDH1	2.33
241	Congenital pulmonary airway malformation	Enrichment	KRAS	2.33
242	Familial adenomatous polyposis	Enrichment	APC	2.33
243	Fgfr3-related chondrodysplasia	Enrichment	FGFR3	2.33
244	Syringocystadenoma papilliferum	Enrichment	BRAF	2.33
245	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	Enrichment	FGFR3	2.33
246	Ganglioglioma	Enrichment	BRAF	2.33
247	Nongerminomatous germ cell tumor	Enrichment	BRAF	2.33
248	Phace syndrome	Enrichment	BRAF	2.33
249	Gardner syndrome	Enrichment	APC	2.33
250	5q22 microdeletion syndrome	Enrichment	APC	2.33
251	Attenuated familial adenomatous polyposis	Enrichment	APC	2.33
252	Classic hairy cell leukemia	Enrichment	BRAF	2.33
253	Hartsfield-bixler-demyer syndrome	Enrichment	FGFR1	2.33
254	Non-syndromic unicoronal craniosynostosis	Enrichment	FGFR2	2.33
255	Serous carcinoma of the corpus uteri	Enrichment	ERBB2	2.33
256	Neurocutaneous melanocytosis	Enrichment	NRAS	2.33
257	Epilepsy, focal, with speech disorder and with or without impaired intellectual development	Enrichment	GRIN2A	2.30
258	Melanoma, cutaneous malignant 3	Enrichment	CDK4	2.30
259	Mastocytosis, cutaneous	Enrichment	KIT	2.30
260	Heterochromia iridis	Enrichment	MITF	2.30
261	Tietz albinism-deafness syndrome	Enrichment	MITF	2.30
262	Microcephaly 12, primary, autosomal recessive	Enrichment	CDK6	2.30
263	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	Enrichment	PAK1	2.30
264	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	Enrichment	MITF	2.30
265	Cardiomyopathy, dilated, 1w	Enrichment	VCL	2.30
266	Cardiomyopathy, familial hypertrophic, 15	Enrichment	VCL	2.30
267	Long qt syndrome 16	Enrichment	CALM3	2.30
268	Amyotrophic lateral sclerosis 19	Enrichment	ERBB4	2.30
269	Chronic mast cell leukemia	Enrichment	KIT	2.30
270	Tufted angioma of skin	Enrichment	KDR	2.30
271	Trilateral retinoblastoma	Enrichment	RB1	2.30
272	Plexiform neurofibroma	Enrichment	NF1	2.30
273	Neurofibroma	Enrichment	NF1	2.30
274	Long qt syndrome 15	Enrichment	CALM2	2.30
275	Cdkn2a cancer predisposition	Enrichment	CDKN2A	2.30
276	Neurofibromatosis	Enrichment	NF1	2.30
277	Landau-kleffner syndrome	Enrichment	GRIN2A	2.30
278	Chromosome 17q11.2 deletion syndrome	Enrichment	NF1	2.30
279	Isolated bone marrow mastocytosis	Enrichment	KIT	2.30
280	Smoldering systemic mastocytosis	Enrichment	KIT	2.30
281	Optic nerve glioma	Enrichment	NF1	2.30
282	Mastocytosis	Enrichment	KIT	2.30
283	Cutaneous mastocytoma	Enrichment	KIT	2.30
284	Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation	Enrichment	GRIN2A	2.30
285	Grin2a-related disorders	Enrichment	GRIN2A	2.30
286	Typical urticaria pigmentosa	Enrichment	KIT	2.30
287	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	2.30
288	Nodular urticaria pigmentosa	Enrichment	KIT	2.30
289	Pseudoxanthomatous diffuse cutaneous mastocytosis	Enrichment	KIT	2.30
290	Telangiectasia macularis eruptiva perstans	Enrichment	KIT	2.30
291	Acute mast cell leukemia	Enrichment	KIT	2.30
292	Plaque-form urticaria pigmentosa	Enrichment	KIT	2.30
293	Bullous diffuse cutaneous mastocytosis	Enrichment	KIT	2.30
294	Lung oat cell carcinoma	Enrichment	RB1	2.30
295	Testis seminoma	Enrichment	KIT	2.30
296	Caspase 8 deficiency	Enrichment	CASP8	2.28
297	Neuroblastoma 3	Enrichment	ALK	2.28
298	Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant	Enrichment	STAT5B	2.28
299	Immune dysregulation, autoimmunity, and autoinflammation	Enrichment	PLCG1	2.28
300	Immunodeficiency 110 with lymphoproliferation	Enrichment	STK4	2.28
301	T-cell large granular lymphocyte leukemia	Enrichment	STAT3	2.28
302	Thrombocytopenia 4	Enrichment	CYCS	2.28
303	Spinocerebellar ataxia 14	Enrichment	PRKCG	2.28
304	Autoinflammation, antibody deficiency, and immune dysregulation	Enrichment	PLCG2	2.28
305	Microphthalmia, syndromic 12	Enrichment	RARB	2.28
306	Familial cold autoinflammatory syndrome 3	Enrichment	PLCG2	2.28
307	Autoimmune disease, multisystem, infantile-onset, 1	Enrichment	STAT3	2.28
308	T-b+ severe combined immunodeficiency due to jak3 deficiency	Enrichment	JAK3	2.28
309	Stat3-related early-onset multisystem autoimmune disease	Enrichment	STAT3	2.28
310	Alk-positive anaplastic large cell lymphoma	Enrichment	ALK	2.28
311	Alk-positive large b-cell lymphoma	Enrichment	ALK	2.28
312	Chronic lymphoproliferative disorder of natural killer cells	Enrichment	STAT3	2.28
313	Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis	Enrichment	RAC2	2.27
314	Multiple self-healing squamous epithelioma	Enrichment	TGFBR1	2.27
315	Hiatt-neu-cooper neurodevelopmental syndrome	Enrichment	RALA	2.27
316	Immunodeficiency 92	Enrichment	REL	2.27
317	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	Enrichment	RAC3	2.27
318	Mirror movements 4	Enrichment	NTN1	2.27
319	Lynch syndrome 2	Enrichment	MLH1	2.27
320	Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	Enrichment	RAC2	2.27
321	Camurati-engelmann disease 2	Enrichment	TGFB2	2.27
322	Colorectal cancer, hereditary nonpolyposis, type 6	Enrichment	TGFBR2	2.27
323	Loeys-dietz syndrome 6	Enrichment	SMAD2	2.27
324	Autoinflammation with arthritis and vasculitis	Enrichment	TBK1	2.27
325	Loeys-dietz syndrome 5	Enrichment	TGFB3	2.27
326	Mismatch repair cancer syndrome 2	Enrichment	MSH2	2.27
327	Maturity-onset diabetes of the young, type 14	Enrichment	APPL1	2.27
328	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	Enrichment	RHOA	2.27
329	Gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development	Enrichment	DCC	2.27
330	Corticobasal syndrome	Enrichment	TBK1	2.27
331	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	Enrichment	RHOA	2.27
332	Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	Enrichment	RAC2	2.27
333	Encephalopathy, acute, infection-induced 8	Enrichment	TBK1	2.27
334	Rectal benign neoplasm	Enrichment	MSH2	2.27
335	Congenital heart defects, multiple types, 8, with or without heterotaxy	Enrichment	SMAD2	2.27
336	Heritable thoracic aortic disease	Enrichment	SMAD4	2.27
337	Ascending colon cancer	Enrichment	MSH2	2.27
338	Ovarian cyst	Enrichment	MSH2	2.27
339	Infantile lad-like disease due to rac2 deficiency	Enrichment	RAC2	2.27
340	Reticular dysgenesis-like severe combined immunodeficiency	Enrichment	RAC2	2.27
341	Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome	Enrichment	RAC2	2.27
342	Chand syndrome	Enrichment	RIPK4	2.19
343	Intellectual developmental disorder, x-linked 30	Enrichment	PAK3	2.19
344	Incontinentia pigmenti	Enrichment	IKBKG	2.19
345	Autoinflammatory disease, systemic, x-linked	Enrichment	IKBKG	2.19
346	Glioma susceptibility 3	Enrichment	BRCA2	2.19
347	Cardiac valvular dysplasia 1	Enrichment	PLD1	2.19
348	Mirror movements 2	Enrichment	RAD51	2.19
349	Fetal encasement syndrome	Enrichment	CHUK	2.19
350	Autoimmune lymphoproliferative syndrome, type iii	Enrichment	PRKCD	2.19
351	Immunodeficiency 15b	Enrichment	IKBKB	2.19
352	Fanconi anemia, complementation group r	Enrichment	RAD51	2.19
353	Immunodeficiency 15a	Enrichment	IKBKB	2.19
354	Knobloch syndrome 2	Enrichment	PAK2	2.19
355	Ectodermal dysplasia and immunodeficiency 1	Enrichment	IKBKG	2.19
356	Bartsocas-papas syndrome 1	Enrichment	RIPK4	2.19
357	Intellectual developmental disorder, x-linked 46	Enrichment	ARHGEF6	2.19
358	Pancreatic cancer 2	Enrichment	BRCA2	2.19
359	Microvascular complications of diabetes 1	Enrichment	VEGFA	2.19
360	Immunodeficiency 31a	Enrichment	STAT1	2.19
361	Hypogonadotropic hypogonadism 19 with or without anosmia	Enrichment	DUSP6	2.19
362	Immunodeficiency 31b	Enrichment	STAT1	2.19
363	Takenouchi-kosaki syndrome	Enrichment	CDC42	2.19
364	Bartsocas-papas syndrome 2	Enrichment	CHUK	2.19
365	Neurodevelopmental disorder with language delay and seizures	Enrichment	TIAM1	2.19
366	Nocarh syndrome	Enrichment	CDC42	2.19
367	Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency	Enrichment	CHUK	2.19
368	Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency	Enrichment	JAK1	2.19
369	Dilated cardiomyopathy	Enrichment	BRAF, RAF1, VCL	2.12
370	Ectrodactyly and ectodermal dysplasia without cleft lip/palate	Enrichment	LEF1	2.10
371	Fibromatosis, gingival, 1	Enrichment	SOS1	2.10
372	Adrenocortical carcinoma, hereditary	Enrichment	TP53	2.10
373	Costello syndrome	Enrichment	HRAS	2.10
374	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	2.10
375	Ovarian germ cell cancer	Enrichment	CBL	2.10
376	Lymphangioleiomyomatosis	Enrichment	TSC2	2.10
377	Roifman-chitayat syndrome	Enrichment	PIK3CD	2.10
378	Noonan syndrome 8	Enrichment	PIK3CA	2.10
379	Lymphoma, hodgkin, classic	Enrichment	TP53	2.10
380	Nephrotic syndrome, type 15	Enrichment	MAGI2	2.10
381	Cebalid syndrome	Enrichment	MTOR	2.10
382	Childhood hepatocellular carcinoma	Enrichment	CTNNB1	2.10
383	Senior-loken syndrome 7	Enrichment	AKT3	2.10
384	Congenital fibrosarcoma	Enrichment	TP53	2.10
385	Li-fraumeni syndrome 1	Enrichment	TP53	2.10
386	Sarcoma	Enrichment	TP53	2.10
387	Hodgkin's lymphoma	Enrichment	TP53	2.10
388	Bardet-biedl syndrome 16	Enrichment	AKT3	2.10
389	Smith-kingsmore syndrome	Enrichment	MTOR	2.10
390	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	2.10
391	Vacterl with hydrocephalus	Enrichment	PTEN	2.10
392	Growth delay due to insulin-like growth factor type 1 deficiency	Enrichment	IGF1	2.10
393	Malignant germ cell tumor of ovary	Enrichment	CBL	2.10
394	Teratoma	Enrichment	CTNNB1	2.10
395	Juvenile polyposis of infancy	Enrichment	PTEN	2.10
396	Tafro syndrome	Enrichment	MAP2K2	2.10
397	Wooly hair nevus	Enrichment	HRAS	2.10
398	Hirschsprung disease 1	Enrichment	AXIN2, ERBB2	2.10
399	Complex neurodevelopmental disorder	Enrichment	PAK3, RAC3, RALA, TIAM1	2.07
400	Congenital nervous system abnormality	Enrichment	CTNNB1, PTEN, TSC2	2.06
401	Nervous system disease	Enrichment	CTNNB1, PTEN, TSC2	2.06
402	Non-immune hydrops fetalis	Enrichment	HRAS, KRAS	2.04
403	Blepharocheilodontic syndrome 1	Enrichment	CDH1	2.03
404	Burkitt lymphoma	Enrichment	MYC	2.03
405	Xeroderma pigmentosum, complementation group e	Enrichment	DDB2	2.03
406	Aural atresia, congenital	Enrichment	FGFR2	2.03
407	Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies	Enrichment	POLK	2.03
408	Antley-bixler syndrome without genital anomalies or disordered steroidogenesis	Enrichment	FGFR2	2.03
409	Periampullary adenoma	Enrichment	APC	2.03
410	Gastric adenocarcinoma and proximal polyposis of the stomach	Enrichment	APC	2.03
411	Interfrontal craniofaciosynostosis	Enrichment	FGFR1	2.03
412	Autosomal dominant nonsyndromic deafness	Enrichment	FGFR2	2.03
413	Xeroderma pigmentosum group e	Enrichment	DDB2	2.03
414	Autism spectrum disorder	Enrichment	MAP2K1, PTEN, TSC2	2.03
415	Cafe-au-lait spots, multiple	Enrichment	NF1	2.00
416	Melanoma-astrocytoma syndrome	Enrichment	CDKN2A	2.00
417	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	2.00
418	Piebald trait	Enrichment	KIT	2.00
419	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	2.00
420	Melanoma, cutaneous malignant 2	Enrichment	CDKN2A	2.00
421	Chromosome 13q14 deletion syndrome	Enrichment	RB1	2.00
422	Angioma, tufted	Enrichment	KDR	2.00
423	Long qt syndrome 14	Enrichment	CALM1	2.00
424	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	2.00
425	Chromosome 17q11.2 duplication syndrome, 1.4-mb	Enrichment	NF1	2.00
426	Melanoma, cutaneous malignant 8	Enrichment	MITF	2.00
427	Intellectual developmental disorder, autosomal dominant 21	Enrichment	GRIN2A	2.00
428	Melanoma-pancreatic cancer syndrome	Enrichment	CDKN2A	2.00
429	Papillary renal cell carcinoma	Enrichment	MITF	2.00
430	Bardet-biedl syndrome 9	Enrichment	NF1	2.00
431	Rolandic epilepsy-speech dyspraxia syndrome	Enrichment	GRIN2A	2.00
432	Familial retinoblastoma	Enrichment	RB1	2.00
433	B-lymphoblastic leukemia/lymphoma with t	Enrichment	KIT	2.00
434	Epilepsy-aphasia spectrum	Enrichment	GRIN2A	2.00
435	Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive	Enrichment	STAT5B	1.98
436	Laron syndrome with immunodeficiency	Enrichment	STAT5B	1.98
437	Long qt syndrome	Enrichment	CALM1, CALM2	1.98
438	Myhre syndrome	Enrichment	SMAD4	1.97
439	Camurati-engelmann disease 1	Enrichment	TGFB1	1.97
440	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Enrichment	SMAD4	1.97
441	Microvascular complications of diabetes 5	Enrichment	TGFBR2	1.97
442	Loeys-dietz syndrome 3	Enrichment	SMAD3	1.97
443	Inflammatory bowel disease, immunodeficiency, and encephalopathy	Enrichment	TGFB1	1.97
444	Intravascular large b-cell lymphoma	Enrichment	BCL2	1.97
445	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Enrichment	TBK1	1.97
446	Camurati-engelmann disease	Enrichment	TGFB1	1.97
447	Mismatch repair cancer syndrome 3	Enrichment	MSH6	1.97
448	Horizontal gaze palsy with progressive scoliosis	Enrichment	DCC	1.97
449	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	Enrichment	EXOC2	1.97
450	Pompe disease, infantile-onset	Enrichment	PIK3CA	1.92
451	Tuberous sclerosis 1	Enrichment	TSC2	1.92
452	Polycystic kidney disease, infantile severe, with tuberous sclerosis	Enrichment	TSC2	1.92
453	Nuchal bleb, familial	Enrichment	SOS1	1.92
454	Nasopharyngeal carcinoma	Enrichment	TP53	1.92
455	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	1.92
456	Tuberous sclerosis 2	Enrichment	TSC2	1.92
457	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	1.92
458	Anus, imperforate	Enrichment	CTNNB1	1.92
459	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	1.92
460	Hamartoma	Enrichment	TSC2	1.92
461	Atypical teratoid rhabdoid tumor	Enrichment	TP53	1.92
462	Anaplastic astrocytoma	Enrichment	TP53	1.92
463	Xanthinuria, type ii	Enrichment	TSC2	1.92
464	Adenocarcinoma	Enrichment	TP53	1.92
465	Laryngeal squamous cell carcinoma	Enrichment	PTEN	1.92
466	Growth delay due to insulin-like growth factor i resistance	Enrichment	IGF1R	1.92
467	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	1.92
468	Keratoacanthoma	Enrichment	PIK3CA	1.92
469	Connective tissue disease	Enrichment	SMAD3, TGFBR2	1.89
470	Severe combined immunodeficiency	Enrichment	JAK3, STK4	1.89
471	Microcephaly	Enrichment	CTNNB1, IGF1R, MAPK1	1.89
472	Immunodeficiency 33	Enrichment	IKBKG	1.89
473	Immunodeficiency, common variable, 12, with autoimmunity	Enrichment	NFKB1	1.89
474	Immunodeficiency 31c	Enrichment	STAT1	1.89
475	Autoinflammatory disease, familial, behcet-like 3	Enrichment	RELA	1.89
476	Rela fusion-positive ependymoma	Enrichment	RELA	1.89
477	Diffuse midline glioma, h3 k27m-mutant	Enrichment	BRCA2	1.89
478	Fanconi anemia, complementation group d1	Enrichment	BRCA2	1.89
479	Autoinflammation, immune dysregulation, and eosinophilia	Enrichment	JAK1	1.89
480	Ectodermal dysplasia and immune deficiency	Enrichment	IKBKG	1.89
481	Glucosephosphate dehydrogenase deficiency	Enrichment	IKBKG	1.89
482	Inflammatory breast carcinoma	Enrichment	BRCA2	1.89
483	Bilateral breast cancer	Enrichment	BRCA2	1.89
484	Common variable immunodeficiency 12	Enrichment	NFKB1	1.89
485	Neuroendocrine tumor of pancreas	Enrichment	BRCA2	1.89
486	Achondroplasia	Enrichment	FGFR3	1.86
487	Hypogonadotropic hypogonadism 2 with or without anosmia	Enrichment	FGFR1	1.86
488	Larsen syndrome	Enrichment	FGFR3	1.86
489	Ataxia-telangiectasia	Enrichment	BRAF	1.86
490	Chromosome 8p11 myeloproliferative syndrome	Enrichment	FGFR1	1.86
491	Cenani-lenz syndactyly syndrome	Enrichment	APC	1.86
492	Tethered spinal cord syndrome	Enrichment	BRAF	1.86
493	Testicular germ cell cancer	Enrichment	FGFR3	1.86
494	T-cell acute lymphoblastic leukemia	Enrichment	BAX	1.86
495	Butterfly-shaped pigment dystrophy	Enrichment	CTNNA1	1.86
496	Testicular cancer	Enrichment	FGFR3	1.86
497	Apc-associated polyposis conditions	Enrichment	APC	1.86
498	Jacobsen syndrome	Enrichment	ETS1	1.82
499	Retinoblastoma	Enrichment	RB1	1.82
500	Waardenburg syndrome, type 2a	Enrichment	MITF	1.82
501	Watson syndrome	Enrichment	NF1	1.82
502	Neurofibromatosis, familial spinal	Enrichment	NF1	1.82
503	Woolly hair, autosomal recessive 3	Enrichment	RB1	1.82
504	Chromosome 17q11.2 deletion syndrome, 1.4-mb	Enrichment	NF1	1.82
505	Hypotrichosis 8	Enrichment	RB1	1.82
506	Brain cancer	Enrichment	NF1	1.82
507	Melanoma of soft tissue	Enrichment	CREB1	1.82
508	Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency	Enrichment	JAK3	1.81
509	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	STAT3	1.81
510	Hyper ige syndrome	Enrichment	STAT3	1.81
511	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.80
512	Pilomatrixoma	Enrichment	CTNNB1	1.80
513	Alazami syndrome	Enrichment	CTNNB1	1.80
514	Tuberous sclerosis	Enrichment	TSC2	1.80
515	Cerebrovascular disease	Enrichment	PIK3CA	1.80
516	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	CBL	1.80
517	Epidermolytic nevus	Enrichment	HRAS	1.80
518	Familial cerebral cavernous malformations	Enrichment	PIK3CA	1.80
519	Gingival fibromatosis	Enrichment	SOS1	1.80
520	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	SOS2	1.80
521	Juvenile polyposis syndrome	Enrichment	SMAD4	1.79
522	Lynch syndrome 5	Enrichment	MSH6	1.79
523	Familial adenomatous polyposis 4	Enrichment	MSH3	1.79
524	Cellular ependymoma	Enrichment	MSH2	1.79
525	Tanycytic ependymoma	Enrichment	MSH2	1.79
526	Papillary ependymoma	Enrichment	MSH2	1.79
527	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	Enrichment	MSH6	1.79
528	Clear cell ependymoma	Enrichment	MSH2	1.79
529	Polyposis syndrome, hereditary mixed, 1	Enrichment	CTNNA1	1.73
530	Barrett esophagus	Enrichment	ERBB2	1.73
531	Congenital generalized lipodystrophy	Enrichment	FOS	1.73
532	Mantle cell lymphoma	Enrichment	CCND1	1.73
533	Newborn respiratory distress syndrome	Enrichment	BRAF	1.73
534	Non-syndromic bicoronal craniosynostosis	Enrichment	FGFR3	1.73
535	Tumor predisposition syndrome 1	Enrichment	BRCA2	1.71
536	Bap1 tumor predisposition syndrome	Enrichment	BRCA2	1.71
537	Capillary malformations, congenital	Enrichment	PIK3CA	1.70
538	Exudative vitreoretinopathy 1	Enrichment	CTNNB1	1.70
539	Macrocephaly/autism syndrome	Enrichment	PTEN	1.70
540	Lymphoma	Enrichment	TP53	1.70
541	Myeloproliferative neoplasm	Enrichment	CBL	1.70
542	Hemangioma	Enrichment	PTEN	1.70
543	Aggressive systemic mastocytosis	Enrichment	CBL	1.70
544	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Enrichment	KIT	1.70
545	Systemic mastocytosis with associated hematologic neoplasm	Enrichment	KIT	1.70
546	Middle aortic syndrome	Enrichment	NF1	1.70
547	Clear cell papillary renal cell carcinoma	Enrichment	MITF	1.70
548	Hereditary ataxia	Enrichment	PRKCG	1.68
549	Ciliary dyskinesia, primary, 22	Enrichment	RASSF1	1.68
550	Adenosine deaminase deficiency	Enrichment	JAK3	1.68
551	Gaucher disease, type i	Enrichment	MSH6	1.67
552	Benign ependymoma	Enrichment	MSH2	1.67
553	Fanconi anemia, complementation group a	Enrichment	BRCA2, RAD51	1.67
554	Sotos syndrome	Enrichment	APC2	1.64
555	Von hippel-lindau syndrome	Enrichment	CCND1	1.64
556	Familial adenomatous polyposis 1	Enrichment	APC	1.64
557	Holoprosencephaly	Enrichment	FGFR1	1.64
558	Histiocytoid hemangioma	Enrichment	FOS	1.64
559	Primary hypereosinophilic syndrome	Enrichment	FGFR1	1.64
560	Klippel-trenaunay-weber syndrome	Enrichment	PIK3CA	1.63
561	Weyers acrofacial dysostosis	Enrichment	CTNNB1	1.63
562	Hypertelorism	Enrichment	FGFR2, PIK3CA	1.62
563	Acute myeloid leukemia with maturation	Enrichment	KIT	1.61
564	Acute myeloid leukemia with t(8;21)(q22;q22) translocation	Enrichment	KIT	1.61
565	Chordoma	Enrichment	BRCA2	1.59
566	Cholangiocarcinoma	Enrichment	BRCA2	1.59
567	Knobloch syndrome	Enrichment	PAK2	1.59
568	Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative	Enrichment	JAK3	1.59
569	Autosomal thrombocytopenia with normal platelets	Enrichment	CYCS	1.59
570	Arrhythmogenic right ventricular dysplasia, familial, 1	Enrichment	TGFB3	1.57
571	Follicular lymphoma	Enrichment	BCL2	1.57
572	Glioblastoma	Enrichment	MSH2	1.57
573	Arrhythmogenic right ventricular dysplasia 1	Enrichment	TGFB3	1.57
574	Herpes simplex virus encephalitis	Enrichment	TBK1	1.57
575	Generalized juvenile polyposis/juvenile polyposis coli	Enrichment	SMAD4	1.57
576	Thrombocytopenia	Enrichment	CYCS, SMAD4	1.56
577	Polycystic kidney disease 1 with or without polycystic liver disease	Enrichment	TSC2	1.56
578	Multiple endocrine neoplasia, type i	Enrichment	CDKN1A	1.56
579	Myelofibrosis	Enrichment	SRC	1.56
580	Renal cell carcinoma, papillary, 1	Enrichment	MTOR	1.56
581	Polycystic kidney disease 1	Enrichment	TSC2	1.56
582	Essential thrombocythemia	Enrichment	TP53	1.56
583	Holoprosencephaly 1	Enrichment	FGFR1	1.56
584	Testicular germ cell tumor	Enrichment	FGFR3	1.56
585	Wilms tumor 5	Enrichment	BRAF	1.56
586	46,xy disorder of sex development	Enrichment	FGFR3	1.56
587	Cleft lip with or without cleft palate	Enrichment	CDH1	1.56
588	Familial isolated dilated cardiomyopathy	Enrichment	RAF1, VCL	1.54
589	Waardenburg syndrome, type 4a	Enrichment	MITF	1.53
590	Hemangioma, capillary infantile	Enrichment	KDR	1.53
591	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1	1.53
592	Waardenburg syndrome	Enrichment	MITF	1.53
593	Inflammatory myofibroblastic tumor	Enrichment	ALK	1.51
594	Exudative vitreoretinopathy	Enrichment	CTNNB1	1.50
595	Atrial septal defect 1	Enrichment	TGFB2	1.50
596	Inflammatory bowel disease 25, autosomal recessive	Enrichment	TGFB1	1.50
597	Il10-related early-onset inflammatory bowel disease	Enrichment	TGFB1	1.50
598	Classic ehlers-danlos syndrome	Enrichment	TGFBR1	1.50
599	Anemia, congenital, nonspherocytic hemolytic, 1	Enrichment	IKBKG	1.49
600	Knobloch syndrome 1	Enrichment	PAK2	1.49
601	Mosaic variegated aneuploidy syndrome 1	Enrichment	BUB1B-PAK6	1.49
602	Breast-ovarian cancer, familial 2	Enrichment	BRCA2	1.49
603	Waardenburg syndrome, type 1	Enrichment	MITF	1.46
604	Gastrointestinal stromal tumor	Enrichment	KIT	1.46
605	Waardenburg syndrome, type 2e	Enrichment	MITF	1.46
606	Hereditary clear cell renal cell carcinoma	Enrichment	FHIT	1.44
607	Motor neuron disease	Enrichment	TBK1	1.43
608	Hereditary hemorrhagic telangiectasia	Enrichment	SMAD4	1.43
609	Kabuki syndrome 1	Enrichment	BRCA2	1.42
610	Chronic mucocutaneous candidiasis	Enrichment	STAT1	1.42
611	Polymicrogyria	Enrichment	AKT3	1.41
612	Ewing sarcoma	Enrichment	NF1	1.40
613	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1	1.40
614	Tooth agenesis, selective, 1	Enrichment	AXIN2	1.39
615	Cardiomyopathy, familial hypertrophic, 4	Enrichment	BRAF	1.39
616	Tracheoesophageal fistula with or without esophageal atresia	Enrichment	APC2	1.39
617	Hypogonadotropic hypogonadism	Enrichment	FGFR1	1.39
618	Ventricular septal defect	Enrichment	BRAF	1.39
619	Neuroblastoma	Enrichment	ALK	1.39
620	Permanent neonatal diabetes mellitus	Enrichment	STAT3	1.39
621	Lennox-gastaut syndrome	Enrichment	MAPK10	1.37
622	Meningioma, familial	Enrichment	PTEN	1.37
623	Myelodysplastic syndrome	Enrichment	TP53	1.37
624	Specific learning disability	Enrichment	MAPK1	1.37
625	Neurofibromatosis, type i	Enrichment	NF1	1.35
626	Leukemia, acute lymphoblastic 3	Enrichment	NF1	1.35
627	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	RAC1	1.35
628	Common variable immunodeficiency	Enrichment	NFKB1	1.35
629	Meier-gorlin syndrome 1	Enrichment	FGFR2	1.34
630	Isolated tracheo-esophageal fistula	Enrichment	APC2	1.34
631	Primary bone dysplasia	Enrichment	FGFR3	1.34
632	Progressive non-fluent aphasia	Enrichment	TBK1	1.32
633	Familial thoracic aortic aneurysm and dissection	Enrichment	SMAD3	1.32
634	Xeroderma pigmentosum, variant type	Enrichment	DDB2	1.30
635	Osteochondrodysplasia	Enrichment	FGFR3	1.30
636	Aortic valve disease 1	Enrichment	SOS1	1.30
637	Neural tube defects	Enrichment	ITGB1	1.30
638	Isolated growth hormone deficiency, type ia	Enrichment	BRCA2	1.29
639	Mosaic variegated aneuploidy syndrome	Enrichment	BUB1B-PAK6	1.29
640	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Enrichment	TBK1	1.28
641	Leukemia, acute lymphoblastic	Enrichment	CDKN2A	1.27
642	Osteoporosis	Enrichment	SRC	1.26
643	46,xy partial gonadal dysgenesis	Enrichment	SOS1	1.26
644	Septooptic dysplasia	Enrichment	FGFR1	1.26
645	Renal hypodysplasia/aplasia 3	Enrichment	FGFR3	1.26
646	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	CTNNA3	1.26
647	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	CTNNA3	1.26
648	Polydactyly	Enrichment	BRCA2	1.24
649	Coronary heart disease 5	Enrichment	IKBKG	1.24
650	Pectus excavatum	Enrichment	TGFBR1	1.24
651	Renal cell carcinoma, nonpapillary	Enrichment	MTOR	1.24
652	Autosomal dominant polycystic kidney disease	Enrichment	TSC2	1.24
653	Rare genetic intellectual disability	Enrichment	MTOR	1.24
654	Protein-deficiency anemia	Enrichment	NRAS	1.23
655	Ciliary dyskinesia, primary, 3	Enrichment	NFKB1	1.20
656	Hypogonadotropic hypogonadism 7 with or without anosmia	Enrichment	FGFR1	1.20
657	Cleft lip/palate	Enrichment	CDH1	1.20
658	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	CTNNA3	1.20
659	Polycystic liver disease	Enrichment	CTNNB1	1.18
660	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1	1.18
661	Microphthalmia/coloboma 12	Enrichment	RARB	1.18
662	Hydrocephalus	Enrichment	FGFR2	1.17
663	Breast-ovarian cancer, familial 1	Enrichment	MSH2	1.17
664	Pheochromocytoma	Enrichment	NF1	1.17
665	Familial colorectal cancer type x	Enrichment	BRCA2	1.16
666	Heart, malformation of	Enrichment	MAPK1	1.16
667	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	CTNNA3	1.14
668	Microform holoprosencephaly	Enrichment	FGFR1	1.14
669	Lobar holoprosencephaly	Enrichment	FGFR1	1.14
670	Aortic aneurysm, familial thoracic 1	Enrichment	SMAD3	1.14
671	Coloboma of macula	Enrichment	RARB	1.12
672	Dandy-walker syndrome	Enrichment	BRAF	1.12
673	Corpus callosum, agenesis of	Enrichment	DCC	1.11
674	Isolated corpus callosum agenesis	Enrichment	DCC	1.11
675	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	DCC	1.11
676	Semilobar holoprosencephaly	Enrichment	FGFR1	1.09
677	Normosmic congenital hypogonadotropic hypogonadism	Enrichment	FGFR1	1.09
678	Sudden infant death syndrome	Enrichment	CALM2	1.09
679	Esophageal atresia/tracheoesophageal fistula	Enrichment	APC2	1.07
680	Diamond-blackfan anemia 1	Enrichment	TP53	1.06
681	Cardiomyopathy, familial hypertrophic, 1	Enrichment	RAF1	1.04
682	Hydrops fetalis, nonimmune	Enrichment	HRAS	1.01
683	Hereditary paraganglioma-pheochromocytoma syndromes	Enrichment	NF1	1.00
684	Kallmann syndrome	Enrichment	FGFR1	0.99
685	Precursor t-cell acute lymphoblastic leukemia	Enrichment	MYC	0.99
686	Maturity-onset diabetes of the young	Enrichment	APPL1	0.99
687	Skin disease	Enrichment	NF1	0.98
688	Microphthalmia	Enrichment	RARB	0.96
689	Ear malformation	Enrichment	MITF	0.94
690	Tetralogy of fallot	Enrichment	KDR	0.91
691	Familial hypertrophic cardiomyopathy	Enrichment	RAF1	0.91
692	Genetic steroid-resistant nephrotic syndrome	Enrichment	MAGI2	0.90
693	Left ventricular noncompaction	Enrichment	RAF1	0.88
694	Diamond-blackfan anemia	Enrichment	TP53	0.87
695	Malaria	Enrichment	IKBKG	0.86
696	Severe covid-19	Enrichment	JAK3	0.85
697	Primary autosomal recessive microcephaly	Enrichment	CDK6	0.83
698	Cystic fibrosis	Enrichment	TGFB1	0.80
699	West syndrome	Enrichment	TSC2	0.79
700	Non-syndromic genetic deafness	Enrichment	MITF	0.78
701	Systemic lupus erythematosus	Enrichment	ETS1	0.75
702	Epilepsy	Enrichment	GRIN2A	0.74
703	Benign epilepsy with centrotemporal spikes	Enrichment	GRIN2A	0.73
704	Nonsyndromic hearing loss	Enrichment	MITF	0.72
705	Centralopathic epilepsy	Enrichment	GRIN2A	0.71
706	Non-syndromic x-linked intellectual disability	Enrichment	ARHGEF6	0.68
707	Autosomal dominant non-syndromic intellectual disability	Enrichment	ERBB4	0.65
708	Cerebral palsy	Enrichment	BRCA2	0.65
709	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	MITF	0.64
710	Autism	Enrichment	TCF7L2	0.60
711	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	ERBB4	0.60
712	Primary ovarian insufficiency	Enrichment	KDR	0.59
713	Schizophrenia	Enrichment	FHIT	0.57
714	Rare genetic deafness	Enrichment	MITF	0.48
715	Hereditary retinal dystrophy	Enrichment	CTNNA1	0.13
716	Fundus dystrophy	Enrichment	CTNNA1	0.13

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

Endometrial cancer

Pathway Network for Endometrial cancer

Pathway network for the Endometrial cancer SuperPath

Member Pathways for Endometrial cancer

Pathways in the Endometrial cancer SuperPath

Gene overlap in member pathways for Endometrial cancer SuperPath

Associated Genes for Endometrial cancer

Associated Disorders for Endometrial cancer

Disorders associated with Endometrial cancer SuperPath

STRING Interaction Network for Endometrial cancer

Sources for Endometrial cancer