Breast cancer pathway

No Pathway Network information available for Breast cancer pathway

Pathways in the Breast cancer pathway SuperPath

#	Name	Source	Genes
1	Breast cancer pathway	WikiPathways	AKT1 AKT2 AKT3 APC APC2 ARAF ATM ATR AXIN1 AXIN2 BAK1 BAX BRAF BRCA1 BRCA2 CCND1 CDK4 CDK6 CDKN1A CETN3 CSNK1A1 CSNK1A1L CSNK2A1 CSNK2A2 CSNK2A3 CSNK2B CTNNB1 DDB2 DLL1 DLL3 DLL4 DVL1 DVL2 DVL3 E2F1 E2F2 E2F3 EGF EGFR ERBB2 ESR1 ESR2 FGF1 FGF10 FGF16 FGF17 FGF18 FGF19 FGF2 FGF20 FGF21 FGF22 FGF23 FGF3 FGF4 FGF5 FGF6 FGF7 FGF8 FGF9 FGFR1 FLT4 FOS FRAT1 FRAT2 FZD1 FZD10 FZD2 FZD3 FZD5 FZD6 FZD7 FZD8 FZD9 GADD45A GADD45B GADD45G GRB2 GSK3B HES1 HES5 HEY1 HEY2 HEYL HRAS IGF1 IGF1R JAG2 JUN KIT KRAS LEF1 LRP5 LRP6 MAP2K1 MAP2K2 MAPK1 MAPK3 MRE11 MTOR MYC NBN NCOA1 NCOA3 NFKB2 NOTCH1 NOTCH2 NOTCH3 NOTCH4 NRAS PARP1 PGR PIK3CA PIK3CD PIK3R1 PIK3R2 PIK3R3 POLK PTEN RAD50 RAD51 RAF1 RB1 RPS6KB1 RPS6KB2 SFRP4 SHC1 SHC2 SHC3 SHC4 SKP1 SOS1 SOS2 SP1 TCF7 TCF7L1 TCF7L2 TNFSF11 TP53 WNT1 WNT10A WNT10B WNT11 WNT16 WNT2 WNT2B WNT3 WNT3A WNT4 WNT5A WNT5B WNT6 WNT7A WNT7B (see all 154) (see less)
2	Embryonic stem cell pluripotency pathways	WikiPathways	ACTR2 ACVR1 AKT1 AKT2 AKT3 APC ARAF AXIN1 BMP4 BMPR1A BMPR1B BMPR2 BRAF CTNNB1 DVL1 DVL2 DVL3 EGF EGFR ELK1 ERAS FGF1 FGF10 FGF11 FGF12 FGF13 FGF14 FGF16 FGF17 FGF18 FGF19 FGF2 FGF20 FGF21 FGF22 FGF23 FGF3 FGF4 FGF5 FGF6 FGF7 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFR4 FOS FZD1 FZD2 FZD3 FZD4 FZD5 FZD6 FZD7 FZD8 FZD9 GAB1 GRB2 GSK3B HNF1A HRAS IL6ST JAK1 JUN LIF LIFR LRP5 LRP6 MAP2K1 MAP2K2 MAP2K3 MAP2K5 MAP2K6 MAPK1 MAPK12 MAPK4 MAPK6 MAPK7 MDM2 MTOR NOG PDGFA PDGFB PDGFRA PDGFRB PIK3CD PIK3R2 PTEN PTPN11 RAF1 SELENOP SMAD1 SMAD4 SMAD5 SMAD6 SMAD7 SMAD9 SOS1 STAT3 WNT1 WNT10A WNT10B WNT11 WNT16 WNT2 WNT2B WNT3 WNT3A WNT4 WNT5A WNT5B WNT6 WNT7A WNT7B WNT9B (see all 116) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	FGF19	Fibroblast Growth Factor 19	Protein Coding	2
2	WNT3A	Wnt Family Member 3A	Protein Coding	2
3	FGF16	Fibroblast Growth Factor 16	Protein Coding	2
4	FGF17	Fibroblast Growth Factor 17	Protein Coding	2
5	FGF18	Fibroblast Growth Factor 18	Protein Coding	2
6	FZD8	Frizzled Class Receptor 8	Protein Coding	2
7	FZD6	Frizzled Class Receptor 6	Protein Coding	2
8	AXIN1	Axin 1	Protein Coding	2
9	WNT5B	Wnt Family Member 5B	Protein Coding	2
10	FGF23	Fibroblast Growth Factor 23	Protein Coding	2
11	WNT10A	Wnt Family Member 10A	Protein Coding	2
12	WNT2B	Wnt Family Member 2B	Protein Coding	2
13	WNT11	Wnt Family Member 11	Protein Coding	2
14	WNT10B	Wnt Family Member 10B	Protein Coding	2
15	WNT7A	Wnt Family Member 7A	Protein Coding	2
16	WNT5A	Wnt Family Member 5A	Protein Coding	2
17	WNT3	Wnt Family Member 3	Protein Coding	2
18	WNT2	Wnt Family Member 2	Protein Coding	2
19	WNT1	Wnt Family Member 1	Protein Coding	2
20	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	2
21	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	2
22	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	2
23	PTEN	Phosphatase And Tensin Homolog	Protein Coding	2
24	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	2
25	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	2
26	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	2
27	WNT4	Wnt Family Member 4	Protein Coding	2
28	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	2
29	PIK3CD	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta	Protein Coding	2
30	LRP5	LDL Receptor Related Protein 5	Protein Coding	2
31	LRP6	LDL Receptor Related Protein 6	Protein Coding	2
32	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	2
33	ARAF	A-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	2
34	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	2
35	APC	APC Regulator Of Wnt Signaling Pathway	Protein Coding	2
36	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	2
37	FGF21	Fibroblast Growth Factor 21	Protein Coding	2
38	FZD2	Frizzled Class Receptor 2	Protein Coding	2
39	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	2
40	FOS	Fos Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	2
41	FGFR1	Fibroblast Growth Factor Receptor 1	Protein Coding	2
42	FGF10	Fibroblast Growth Factor 10	Protein Coding	2
43	FGF9	Fibroblast Growth Factor 9	Protein Coding	2
44	FGF8	Fibroblast Growth Factor 8	Protein Coding	2
45	FGF7	Fibroblast Growth Factor 7	Protein Coding	2
46	FGF6	Fibroblast Growth Factor 6	Protein Coding	2
47	FGF5	Fibroblast Growth Factor 5	Protein Coding	2
48	FGF4	Fibroblast Growth Factor 4	Protein Coding	2
49	FGF3	Fibroblast Growth Factor 3	Protein Coding	2
50	FGF2	Fibroblast Growth Factor 2	Protein Coding	2
51	FGF1	Fibroblast Growth Factor 1	Protein Coding	2
52	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	2
53	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	2
54	EGFR	Epidermal Growth Factor Receptor	Protein Coding	2
55	EGF	Epidermal Growth Factor	Protein Coding	2
56	DVL3	Dishevelled Segment Polarity Protein 3	Protein Coding	2
57	DVL1	Dishevelled Segment Polarity Protein 1	Protein Coding	2
58	CTNNB1	Catenin Beta 1	Protein Coding	2
59	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	2
60	DVL2	Dishevelled Segment Polarity Protein 2	Protein Coding	2
61	FZD9	Frizzled Class Receptor 9	Protein Coding	2
62	FZD7	Frizzled Class Receptor 7	Protein Coding	2
63	FZD1	Frizzled Class Receptor 1	Protein Coding	2
64	FZD3	Frizzled Class Receptor 3	Protein Coding	2
65	FZD5	Frizzled Class Receptor 5	Protein Coding	2
66	WNT7B	Wnt Family Member 7B	Protein Coding	2
67	WNT6	Wnt Family Member 6	Protein Coding	2
68	WNT16	Wnt Family Member 16	Protein Coding	2
69	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	2
70	FGF22	Fibroblast Growth Factor 22	Protein Coding	2
71	FGF20	Fibroblast Growth Factor 20	Protein Coding	2
72	NCOA1	Nuclear Receptor Coactivator 1	Protein Coding	1
73	TNFSF11	TNF Superfamily Member 11	Protein Coding	1
74	TCF7L1	Transcription Factor 7 Like 1	Protein Coding	1
75	AXIN2	Axin 2	Protein Coding	1
76	NCOA3	Nuclear Receptor Coactivator 3	Protein Coding	1
77	TP53	Tumor Protein P53	Protein Coding	1
78	TCF7L2	Transcription Factor 7 Like 2	Protein Coding	1
79	TCF7	Transcription Factor 7	Protein Coding	1
80	BRCA2	BRCA2 DNA Repair Associated	Protein Coding	1
81	BRCA1	BRCA1 DNA Repair Associated	Protein Coding	1
82	SP1	Sp1 Transcription Factor	Protein Coding	1
83	SOS2	SOS Ras/Rho Guanine Nucleotide Exchange Factor 2	Protein Coding	1
84	SHC1	SHC Adaptor Protein 1	Protein Coding	1
85	SFRP4	Secreted Frizzled Related Protein 4	Protein Coding	1
86	RPS6KB2	Ribosomal Protein S6 Kinase B2	Protein Coding	1
87	RPS6KB1	Ribosomal Protein S6 Kinase B1	Protein Coding	1
88	CCND1	Cyclin D1	Protein Coding	1
89	RB1	RB Transcriptional Corepressor 1	Protein Coding	1
90	RAD51	RAD51 Recombinase	Protein Coding	1
91	BAX	BCL2 Associated X, Apoptosis Regulator	Protein Coding	1
92	BAK1	BCL2 Antagonist/Killer 1	Protein Coding	1
93	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	1
94	DLL4	Delta Like Canonical Notch Ligand 4	Protein Coding	1
95	ATR	ATR Checkpoint Kinase	Protein Coding	1
96	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	1
97	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	1
98	PGR	Progesterone Receptor	Protein Coding	1
99	POLK	DNA Polymerase Kappa	Protein Coding	1
100	LEF1	Lymphoid Enhancer Binding Factor 1	Protein Coding	1
101	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	1
102	NOTCH4	Notch Receptor 4	Protein Coding	1
103	NOTCH3	Notch Receptor 3	Protein Coding	1
104	NOTCH2	Notch Receptor 2	Protein Coding	1
105	NOTCH1	Notch Receptor 1	Protein Coding	1
106	NFKB2	Nuclear Factor Kappa B Subunit 2	Protein Coding	1
107	ATM	ATM Serine/Threonine Kinase	Protein Coding	1
108	NBN	Nibrin	Protein Coding	1
109	GADD45B	Growth Arrest And DNA Damage Inducible Beta	Protein Coding	1
110	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	1
111	MRE11	MRE11 Double Strand Break Repair Nuclease	Protein Coding	1
112	HES5	Hes Family BHLH Transcription Factor 5	Protein Coding	1
113	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	1
114	KIT	KIT Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	1
115	JAG2	Jagged Canonical Notch Ligand 2	Protein Coding	1
116	IGF1R	Insulin Like Growth Factor 1 Receptor	Protein Coding	1
117	IGF1	Insulin Like Growth Factor 1	Protein Coding	1
118	HES1	Hes Family BHLH Transcription Factor 1	Protein Coding	1
119	DLL1	Delta Like Canonical Notch Ligand 1	Protein Coding	1
120	HEYL	Hes Related Family BHLH Transcription Factor With YRPW Motif Like	Protein Coding	1
121	HEY2	Hes Related Family BHLH Transcription Factor With YRPW Motif 2	Protein Coding	1
122	HEY1	Hes Related Family BHLH Transcription Factor With YRPW Motif 1	Protein Coding	1
123	FLT4	Fms Related Receptor Tyrosine Kinase 4	Protein Coding	1
124	ESR2	Estrogen Receptor 2	Protein Coding	1
125	ESR1	Estrogen Receptor 1	Protein Coding	1
126	ERBB2	Erb-B2 Receptor Tyrosine Kinase 2	Protein Coding	1
127	E2F3	E2F Transcription Factor 3	Protein Coding	1
128	E2F2	E2F Transcription Factor 2	Protein Coding	1
129	E2F1	E2F Transcription Factor 1	Protein Coding	1
130	GADD45A	Growth Arrest And DNA Damage Inducible Alpha	Protein Coding	1
131	DDB2	Damage Specific DNA Binding Protein 2	Protein Coding	1
132	CSNK2B	Casein Kinase 2 Beta	Protein Coding	1
133	CSNK2A2	Casein Kinase 2 Alpha 2	Protein Coding	1
134	CSNK2A1	Casein Kinase 2 Alpha 1	Protein Coding	1
135	CSNK1A1	Casein Kinase 1 Alpha 1	Protein Coding	1
136	PARP1	Poly(ADP-Ribose) Polymerase 1	Protein Coding	1
137	DLL3	Delta Like Canonical Notch Ligand 3	Protein Coding	1
138	APC2	APC Regulator Of Wnt Signaling Pathway 2	Protein Coding	1
139	CDKN1A	Cyclin Dependent Kinase Inhibitor 1A	Protein Coding	1
140	CDK6	Cyclin Dependent Kinase 6	Protein Coding	1
141	CDK4	Cyclin Dependent Kinase 4	Protein Coding	1
142	RAD50	RAD50 Double Strand Break Repair Protein	Protein Coding	1
143	PIK3R3	Phosphoinositide-3-Kinase Regulatory Subunit 3	Protein Coding	1
144	CSNK1A1L	Casein Kinase 1 Alpha 1 Like	Protein Coding	1
145	FZD10	Frizzled Class Receptor 10	Protein Coding	1
146	GADD45G	Growth Arrest And DNA Damage Inducible Gamma	Protein Coding	1
147	CETN3	Centrin 3	Protein Coding	1
148	SKP1	S-Phase Kinase Associated Protein 1	Protein Coding	1
149	SHC3	SHC Adaptor Protein 3	Protein Coding	1
150	SHC4	SHC Adaptor Protein 4	Protein Coding	1
151	CSNK2A3	Casein Kinase 2 Alpha 3	Protein Coding	1
152	SHC2	SHC Adaptor Protein 2	Protein Coding	1
153	FRAT2	FRAT Regulator Of Wnt Signaling Pathway 2	Protein Coding	1
154	FRAT1	FRAT Regulator Of Wnt Signaling Pathway 1	Protein Coding	1
155	ERAS	ES Cell Expressed Ras	Protein Coding	1
156	NOG	Noggin	Protein Coding	1
157	ACVR1	Activin A Receptor Type 1	Protein Coding	1
158	FZD4	Frizzled Class Receptor 4	Protein Coding	1
159	HNF1A	HNF1 Homeobox A	Protein Coding	1
160	STAT3	Signal Transducer And Activator Of Transcription 3	Protein Coding	1
161	BMPR2	Bone Morphogenetic Protein Receptor Type 2	Protein Coding	1
162	BMPR1B	Bone Morphogenetic Protein Receptor Type 1B	Protein Coding	1
163	BMPR1A	Bone Morphogenetic Protein Receptor Type 1A	Protein Coding	1
164	BMP4	Bone Morphogenetic Protein 4	Protein Coding	1
165	SELENOP	Selenoprotein P	Protein Coding	1
166	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	1
167	MAP2K6	Mitogen-Activated Protein Kinase Kinase 6	Protein Coding	1
168	MAP2K5	Mitogen-Activated Protein Kinase Kinase 5	Protein Coding	1
169	MAP2K3	Mitogen-Activated Protein Kinase Kinase 3	Protein Coding	1
170	MAPK7	Mitogen-Activated Protein Kinase 7	Protein Coding	1
171	MAPK6	Mitogen-Activated Protein Kinase 6	Protein Coding	1
172	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	1
173	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	Protein Coding	1
174	PDGFB	Platelet Derived Growth Factor Subunit B	Protein Coding	1
175	PDGFA	Platelet Derived Growth Factor Subunit A	Protein Coding	1
176	MDM2	MDM2 Proto-Oncogene	Protein Coding	1
177	SMAD9	SMAD Family Member 9	Protein Coding	1
178	SMAD7	SMAD Family Member 7	Protein Coding	1
179	SMAD6	SMAD Family Member 6	Protein Coding	1
180	SMAD5	SMAD Family Member 5	Protein Coding	1
181	SMAD4	SMAD Family Member 4	Protein Coding	1
182	SMAD1	SMAD Family Member 1	Protein Coding	1
183	LIFR	LIF Receptor Subunit Alpha	Protein Coding	1
184	LIF	LIF Interleukin 6 Family Cytokine	Protein Coding	1
185	JAK1	Janus Kinase 1	Protein Coding	1
186	IL6ST	Interleukin 6 Cytokine Family Signal Transducer	Protein Coding	1
187	GAB1	GRB2 Associated Binding Protein 1	Protein Coding	1
188	FGFR4	Fibroblast Growth Factor Receptor 4	Protein Coding	1
189	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	1
190	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	1
191	FGF14	Fibroblast Growth Factor 14	Protein Coding	1
192	FGF13	Fibroblast Growth Factor 13	Protein Coding	1
193	FGF12	Fibroblast Growth Factor 12	Protein Coding	1
194	ACTR2	Actin Related Protein 2	Protein Coding	1
195	WNT9B	Wnt Family Member 9B	Protein Coding	1
196	MAPK12	Mitogen-Activated Protein Kinase 12	Protein Coding	1
197	MAPK4	Mitogen-Activated Protein Kinase 4	Protein Coding	1
198	FGF11	Fibroblast Growth Factor 11	Protein Coding	1
199	ELK1	ETS Transcription Factor ELK1	Protein Coding	1

Disorders associated with Breast cancer pathway SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Breast cancer	Enrichment	AKT1, APC, ATM, BRCA1, BRCA2, ESR1, JUN, KRAS, MRE11, NBN, PIK3CA, PTEN, RAD50, RAD51, SHC1, TP53	16.00
2	Ovarian cancer	Enrichment	AKT1, APC, ATM, AXIN2, BRCA1, BRCA2, CTNNB1, EGFR, ERBB2, KIT, KRAS, MRE11, NBN, PIK3CA, PTEN, RAD50, RB1, TP53	16.00
3	Rasopathy	Enrichment	BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1, SOS2	16.00
4	Gastric cancer	Enrichment	APC, ATM, BRCA1, BRCA2, CDK4, ERBB2, KRAS, NBN, PIK3CA, PTEN, TP53	11.19
5	Lung non-small cell carcinoma	Enrichment	BRAF, EGFR, ERBB2, HRAS, KRAS, MAP2K1, NRAS, PIK3CA	10.87
6	Colorectal cancer	Enrichment	AKT1, APC, ATM, AXIN2, BAX, BRAF, BRCA1, BRCA2, CCND1, CTNNB1, ERBB2, FZD3, NRAS, PIK3CA, PIK3R1, TP53	10.86
7	Hereditary breast carcinoma	Enrichment	AKT1, APC, ATM, BRCA1, BRCA2, ESR1, KRAS, NBN, PIK3CA, PTEN, RAD50, RAD51, TP53	10.84
8	Bladder cancer	Enrichment	ATM, BRCA1, BRCA2, CDKN1A, CTNNB1, EGFR, ERBB2, HRAS, KRAS, PIK3CA, PTEN, RB1, TP53	10.75
9	Noonan syndrome 1	Enrichment	BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1, SOS2	10.69
10	Noonan syndrome and noonan-related syndrome	Enrichment	BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1	10.55
11	Lip and oral cavity carcinoma	Enrichment	BRAF, EGFR, HRAS, KIT, PIK3CA, RB1, TP53	10.53
12	Lung cancer susceptibility 3	Enrichment	BRAF, EGFR, ERBB2, FGF10, KRAS, RB1, TP53	10.16
13	Inherited cancer-predisposing syndrome	Enrichment	APC, ATM, AXIN2, BRCA1, BRCA2, CDK4, EGFR, KIT, MRE11, NBN, PTEN, RAD50, RB1, TP53	9.53
14	Hereditary breast ovarian cancer syndrome	Enrichment	ATM, BRCA1, BRCA2, KRAS, MRE11, NBN, PTEN, RAD50, RAD51, TP53	9.30
15	Prostate cancer	Enrichment	ATM, BRCA1, BRCA2, NBN, PIK3CA, POLK, PTEN, TP53	9.08
16	Hepatocellular carcinoma	Enrichment	APC, AXIN1, CTNNB1, NBN, PIK3CA, RAD50, TP53	8.50
17	Gallbladder cancer	Enrichment	BRAF, CTNNB1, KRAS, PIK3CA, TP53	8.44
18	Robinow syndrome, autosomal dominant 1	Enrichment	DVL1, DVL3, FZD2, WNT5A	8.29
19	Autosomal dominant robinow syndrome	Enrichment	DVL1, DVL3, FZD2, WNT5A	8.29
20	Cardiofaciocutaneous syndrome 1	Enrichment	BRAF, KRAS, MAP2K1, MAP2K2	7.80
21	Cardiofaciocutaneous syndrome	Enrichment	BRAF, KRAS, MAP2K1, MAP2K2	7.80
22	Adult hepatocellular carcinoma	Enrichment	AXIN1, CTNNB1, EGF, PIK3CA, TP53	7.67
23	Robinow syndrome, autosomal recessive 1	Enrichment	DVL1, DVL3, FZD2, WNT5A	7.60
24	Autosomal recessive robinow syndrome	Enrichment	DVL1, DVL3, FZD2, WNT5A	7.12
25	Hemimegalencephaly	Enrichment	AKT3, MTOR, PIK3CA, PTEN	7.10
26	Noonan syndrome 3	Enrichment	HRAS, PTPN11, RAF1, SOS1	6.76
27	Breast adenocarcinoma	Enrichment	AKT1, KRAS, PIK3CA, TP53	6.63
28	Pancreatic cancer	Enrichment	ATM, BRCA1, BRCA2, KRAS, NBN, TP53	6.54
29	Nevus, epidermal	Enrichment	HRAS, KRAS, NRAS, PIK3CA	6.26
30	Thyroid cancer, nonmedullary, 2	Enrichment	BRAF, HRAS, NRAS, PTEN	6.26
31	Pilomyxoid astrocytoma	Enrichment	BRAF, FGFR1, KRAS, RAF1	6.26
32	Follicular thyroid carcinoma	Enrichment	BRAF, HRAS, NRAS, PTEN	6.26
33	Lacrimoauriculodentodigital syndrome 1	Enrichment	FGF10, FGFR2, FGFR3	6.22
34	Rhabdomyosarcoma	Enrichment	BRCA1, BRCA2, HRAS, PTEN, TP53	6.16
35	Melanocytic nevus syndrome, congenital	Enrichment	BRAF, HRAS, NRAS, RAF1	5.97
36	Lung cancer	Enrichment	BRAF, BRCA1, EGFR, ERBB2, KRAS, PIK3CA	5.86
37	Langerhans cell histiocytosis	Enrichment	BRAF, MAP2K1, NRAS	5.84
38	Keratoacanthoma	Enrichment	NOTCH1, NOTCH2, PIK3CA	5.84
39	Diffuse large b-cell lymphoma	Enrichment	BRAF, BRCA2, NBN, PTEN, TP53	5.74
40	Craniopharyngioma	Enrichment	APC, BRAF, CTNNB1	5.62
41	Noonan syndrome with multiple lentigines	Enrichment	BRAF, PTPN11, RAF1	5.62
42	Myeloma, multiple	Enrichment	ATM, BRAF, BRCA2, CCND1, KRAS, PIK3R2, TP53	5.51
43	Endometrial cancer	Enrichment	ATM, BRCA1, BRCA2, PIK3CA, PTEN	5.51
44	Tooth agenesis	Enrichment	AXIN2, FGFR1, LRP6, WNT10A, WNT10B	5.40
45	Uterine corpus cancer	Enrichment	ATM, BRCA1, BRCA2, PTEN	5.30
46	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS, KRAS, NRAS	5.24
47	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3, PIK3CA, PIK3R2	5.24
48	Exudative vitreoretinopathy 1	Enrichment	CTNNB1, FZD4, LRP5	5.22
49	Robinow syndrome, autosomal dominant 2	Enrichment	DVL1, DVL3, FZD2	5.22
50	Primary hypereosinophilic syndrome	Enrichment	FGFR1, PDGFRA, PDGFRB	5.22
51	Breast-ovarian cancer, familial 1	Enrichment	ATM, BRCA1, BRCA2, NBN	4.98
52	Gliosarcoma	Enrichment	ATM, EGFR, FGFR1, TP53	4.58
53	Cowden syndrome 1	Enrichment	EGFR, PIK3CA, PTEN	4.55
54	Lung squamous cell carcinoma	Enrichment	EGFR, KRAS, PIK3CA	4.55
55	Exudative vitreoretinopathy	Enrichment	CTNNB1, FZD4, LRP5	4.48
56	Giant cell glioblastoma	Enrichment	ATM, EGFR, FGFR1, TP53	4.47
57	Squamous cell carcinoma, head and neck	Enrichment	EGFR, PTEN, TP53	4.31
58	Capillary malformation-arteriovenous malformation 1	Enrichment	KRAS, MAP2K1, PIK3CA	4.31
59	Pulmonic stenosis	Enrichment	BRAF, SOS1	4.14
60	Pfeiffer syndrome	Enrichment	FGFR1, FGFR2	4.14
61	Jackson-weiss syndrome	Enrichment	FGFR1, FGFR2	4.14
62	Fibrodysplasia ossificans progressiva	Enrichment	ACVR1, BMPR2	4.14
63	Robinow syndrome, autosomal dominant 3	Enrichment	DVL3, FZD2	4.14
64	Juvenile polyposis of infancy	Enrichment	BMPR1A, PTEN	4.14
65	Hepatoblastoma	Enrichment	APC, BRCA2, CTNNB1, TP53	4.08
66	Arteriovenous malformation	Enrichment	HRAS, MAP2K1, PIK3CA	3.94
67	Colonic benign neoplasm	Enrichment	APC, ATM, MRE11	3.94
68	Cowden syndrome	Enrichment	AKT1, PIK3CA, PTEN	3.94
69	Meningioma	Enrichment	AKT1, PDGFB, PTEN	3.90
70	Encephalocraniocutaneous lipomatosis	Enrichment	FGFR1, KRAS	3.89
71	Ras-associated autoimmune leukoproliferative disorder	Enrichment	KRAS, NRAS	3.89
72	Rosette-forming glioneuronal tumor	Enrichment	FGFR1, PIK3CA	3.89
73	Inflammatory breast carcinoma	Enrichment	BRCA1, BRCA2	3.89
74	Bilateral breast cancer	Enrichment	BRCA1, BRCA2	3.89
75	Leukemia, chronic lymphocytic	Enrichment	ATM, CCND1, TP53	3.79
76	Myopathy, x-linked, with excessive autophagy	Enrichment	HRAS, MAP2K1, PIK3CA	3.79
77	Crouzon syndrome	Enrichment	FGFR2, FGFR3	3.66
78	Desmoid disease, hereditary	Enrichment	APC, CTNNB1	3.66
79	Juvenile polyposis syndrome	Enrichment	BMPR1A, SMAD4	3.66
80	Stuve-wiedemann syndrome 1	Enrichment	IL6ST, LIFR	3.66
81	Osteoporosis, juvenile	Enrichment	WNT1, WNT3A	3.66
82	Breast implant-associated anaplastic large cell lymphoma	Enrichment	JAK1, STAT3	3.66
83	Desmoid tumor	Enrichment	APC, CTNNB1	3.66
84	Spermatocytoma	Enrichment	FGFR3, HRAS	3.66
85	Stüve-wiedemann syndrome	Enrichment	IL6ST, LIFR	3.66
86	Pulmonary arterial hypertension associated with congenital heart disease	Enrichment	BMPR2, SMAD9	3.66
87	Hydrocephalus	Enrichment	FGFR2, FZD3, PDGFRB	3.59
88	Differentiated thyroid carcinoma	Enrichment	BRAF, HRAS, KRAS, NRAS	3.52
89	Polycystic liver disease	Enrichment	CTNNB1, LRP5, LRP6	3.42
90	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1, LRP5, LRP6	3.42
91	Ataxia-telangiectasia	Enrichment	ATM, BRAF	3.42
92	Osteogenic sarcoma	Enrichment	RB1, TP53	3.42
93	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3CA, PIK3R1	3.42
94	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3CD, PIK3R1	3.42
95	Large congenital melanocytic nevus	Enrichment	HRAS, NRAS	3.42
96	Immunodeficiency 14	Enrichment	PIK3CD, PIK3R1	3.42
97	Squamous cell carcinoma	Enrichment	RB1, TP53	3.42
98	Adenocarcinoma	Enrichment	ATM, TP53	3.42
99	Migraine without aura	Enrichment	ESR1, NOTCH3	3.42
100	Bone osteosarcoma	Enrichment	RB1, TP53	3.42
101	Non-immune hydrops fetalis	Enrichment	FLT4, FZD6, HRAS, KRAS	3.40
102	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3, PIK3R2	3.37
103	Saethre-chotzen syndrome	Enrichment	FGFR2, FGFR3	3.37
104	Multiple synostoses syndrome	Enrichment	FGF9, NOG	3.37
105	Retinopathy of prematurity	Enrichment	FZD4, LRP5	3.37
106	Glioma	Enrichment	FGFR2, PTEN	3.37
107	Normosmic congenital hypogonadotropic hypogonadism	Enrichment	FGF17, FGF8, FGFR1	3.34
108	Medulloblastoma	Enrichment	APC, BRCA2, CTNNB1	3.32
109	Craniosynostosis	Enrichment	FGFR2, FGFR3, SMAD6	3.20
110	Hemifacial hyperplasia	Enrichment	FGFR2, FGFR3	3.15
111	Holoprosencephaly	Enrichment	FGF8, FGFR1	3.15
112	Generalized juvenile polyposis/juvenile polyposis coli	Enrichment	BMPR1A, SMAD4	3.15
113	Microform holoprosencephaly	Enrichment	DLL1, FGF8, FGFR1	3.14
114	Lobar holoprosencephaly	Enrichment	DLL1, FGF8, FGFR1	3.14
115	Small cell cancer of the lung	Enrichment	RB1, TP53	3.12
116	Thyroid cancer, nonmedullary, 1	Enrichment	BRAF, TP53	3.12
117	Polyposis syndrome, hereditary mixed, 1	Enrichment	BRCA1, BRCA2	3.12
118	Cholangiocarcinoma	Enrichment	BRCA1, BRCA2	3.12
119	Mantle cell lymphoma	Enrichment	ATM, CCND1	3.12
120	Lung sarcomatoid carcinoma	Enrichment	KRAS, TP53	3.12
121	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	KRAS, NRAS	3.12
122	Nijmegen breakage syndrome-like disorder	Enrichment	MRE11, RAD50	3.12
123	Cerebrovascular disease	Enrichment	NOTCH3, PIK3CA	3.12
124	Kallmann syndrome	Enrichment	FGF17, FGF8, FGFR1	3.02
125	Semilobar holoprosencephaly	Enrichment	DLL1, FGF8, FGFR1	2.99
126	Leukemia, acute myeloid	Enrichment	KIT, KRAS, NRAS, TP53	2.97
127	Holoprosencephaly 1	Enrichment	FGF8, FGFR1	2.97
128	Arteriovenous malformations of the brain	Enrichment	BRAF, EGFR, KRAS	2.91
129	Insulin-like growth factor i	Enrichment	IGF1, IGF1R	2.90
130	Breast-ovarian cancer, familial 2	Enrichment	BRCA1, BRCA2	2.90
131	Acute megakaryocytic leukemia	Enrichment	PTEN, TP53	2.90
132	Hydrops fetalis, nonimmune	Enrichment	FZD6, HRAS, PTPN11	2.86
133	Adrenocortical carcinoma	Enrichment	CTNNB1, TP53	2.73
134	Basal ganglia calcification, idiopathic, 1	Enrichment	PDGFB, PDGFRB	2.71
135	Renal agenesis, bilateral	Enrichment	FGF20, WNT9B	2.60
136	Leukemia, chronic myeloid	Enrichment	KRAS, NRAS	2.59
137	Renal cell carcinoma, papillary, 1	Enrichment	ATM, MTOR	2.59
138	Adams-oliver syndrome	Enrichment	DLL4, NOTCH1	2.59
139	Overgrowth syndrome	Enrichment	MTOR, PIK3R1	2.59
140	Tetralogy of fallot	Enrichment	FLT4, HEY2, NOTCH1	2.51
141	Melanoma	Enrichment	BRAF, PTEN	2.51
142	Glioma susceptibility 1	Enrichment	ERBB2, TP53	2.46
143	Lymphoma, non-hodgkin, familial	Enrichment	BRAF, TP53	2.46
144	Meningioma, familial	Enrichment	PDGFB, PTEN	2.42
145	Heritable pulmonary arterial hypertension	Enrichment	BMPR2, SMAD9	2.42
146	Specific learning disability	Enrichment	MAPK1, PTPN11	2.42
147	Tracheoesophageal fistula with or without esophageal atresia	Enrichment	APC2, BRCA2	2.36
148	Primary hyperaldosteronism	Enrichment	BRAF, TP53	2.36
149	Epicanthus	Enrichment	ACVR1, PTPN11	2.34
150	Renal hypodysplasia/aplasia 3	Enrichment	BMP4, FGFR3	2.34
151	Aortic valve disease 1	Enrichment	SMAD6, SOS1	2.27
152	Isolated tracheo-esophageal fistula	Enrichment	APC2, BRCA2	2.27
153	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3CD, PIK3R1	2.27
154	Osteoporosis	Enrichment	LRP5, WNT1	2.21
155	Cleft lip/palate	Enrichment	BMP4, PDGFRA	2.21
156	Migraine with or without aura 1	Enrichment	ESR1, NOTCH3	2.18
157	Familial colorectal cancer type x	Enrichment	ATM, BRCA2	2.18
158	Renal cell carcinoma, nonpapillary	Enrichment	HNF1A, MTOR	2.15
159	Fanconi anemia, complementation group a	Enrichment	BRCA1, BRCA2, RAD51	2.14
160	Juvenile myelomonocytic leukemia	Enrichment	KRAS, NRAS	2.11
161	Hypochondroplasia	Enrichment	FGFR3	2.07
162	Proteus syndrome	Enrichment	AKT1	2.07
163	Beare-stevenson cutis gyrata syndrome	Enrichment	FGFR2	2.07
164	Osteoglophonic dysplasia	Enrichment	FGFR1	2.07
165	Metachondromatosis	Enrichment	PTPN11	2.07
166	Hepatic adenomas, familial	Enrichment	HNF1A	2.07
167	Endosteal hyperostosis, autosomal dominant	Enrichment	LRP5	2.07
168	Nail disorder, nonsyndromic congenital, 1	Enrichment	FZD6	2.07
169	Mullerian aplasia and hyperandrogenism	Enrichment	WNT4	2.07
170	Thanatophoric dysplasia, type i	Enrichment	FGFR3	2.07
171	Trigonocephaly 1	Enrichment	FGFR1	2.07
172	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	2.07
173	Stapes ankylosis with broad thumbs and toes	Enrichment	NOG	2.07
174	Tarsal-carpal coalition syndrome	Enrichment	NOG	2.07
175	Spinocerebellar ataxia 27a	Enrichment	FGF14	2.07
176	Muenke syndrome	Enrichment	FGFR3	2.07
177	Vacterl association with hydrocephalus	Enrichment	PTEN	2.07
178	Pallister-killian syndrome	Enrichment	ARAF	2.07
179	Premature aging syndrome, penttinen type	Enrichment	PDGFRB	2.07
180	Bone mineral density quantitative trait locus 1	Enrichment	LRP5	2.07
181	Exudative vitreoretinopathy 4	Enrichment	LRP5	2.07
182	Deafness, autosomal recessive 26	Enrichment	GAB1	2.07
183	Noonan syndrome 5	Enrichment	RAF1	2.07
184	Hypomagnesemia 4, renal	Enrichment	EGF	2.07
185	Noonan syndrome 4	Enrichment	SOS1	2.07
186	Hypereosinophilic syndrome, idiopathic	Enrichment	PDGFRA	2.07
187	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	Enrichment	WNT4	2.07
188	Scaphocephaly, maxillary retrusion, and impaired intellectual development	Enrichment	FGFR2	2.07
189	Polyposis syndrome, hereditary mixed, 2	Enrichment	BMPR1A	2.07
190	Acromesomelic dysplasia 3	Enrichment	BMPR1B	2.07
191	Melorheostosis, isolated	Enrichment	MAP2K1	2.07
192	Brachydactyly, type b2	Enrichment	NOG	2.07
193	Omodysplasia 2	Enrichment	FZD2	2.07
194	Noonan syndrome 7	Enrichment	BRAF	2.07
195	Leopard syndrome 3	Enrichment	BRAF	2.07
196	Apert syndrome	Enrichment	FGFR2	2.07
197	Basal ganglia calcification, idiopathic, 5	Enrichment	PDGFB	2.07
198	Leopard syndrome 1	Enrichment	PTPN11	2.07
199	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	2.07
200	Cardiofaciocutaneous syndrome 3	Enrichment	MAP2K1	2.07
201	Split-hand/foot malformation 6	Enrichment	WNT10B	2.07
202	Myofibromatosis, infantile, 1	Enrichment	PDGFRB	2.07
203	Tooth agenesis, selective, 7	Enrichment	LRP6	2.07
204	Symphalangism, proximal, 1a	Enrichment	NOG	2.07
205	Thanatophoric dysplasia, type ii	Enrichment	FGFR3	2.07
206	Caudal duplication anomaly	Enrichment	AXIN1	2.07
207	Multiple synostoses syndrome 1	Enrichment	NOG	2.07
208	Hypogonadotropic hypogonadism 20 with or without anosmia	Enrichment	FGF17	2.07
209	Tooth agenesis, selective, 8	Enrichment	WNT10B	2.07
210	Brachydactyly, type a1, d	Enrichment	BMPR1B	2.07
211	Gist-plus syndrome	Enrichment	PDGFRA	2.07
212	Camptodactyly, tall stature, and hearing loss syndrome	Enrichment	FGFR3	2.07
213	Accelerated tumor formation	Enrichment	MDM2	2.07
214	Radioulnar synostosis, nonsyndromic	Enrichment	SMAD6	2.07
215	Aplasia of lacrimal and salivary glands	Enrichment	FGF10	2.07
216	Bent bone dysplasia syndrome 1	Enrichment	FGFR2	2.07
217	Exudative vitreoretinopathy 8	Enrichment	LRP6	2.07
218	Stuve-wiedemann syndrome 2	Enrichment	IL6ST	2.07
219	Noonan syndrome 13	Enrichment	MAPK1	2.07
220	Hyper-ige syndrome 4a, autosomal dominant, with recurrent infections	Enrichment	IL6ST	2.07
221	Intellectual developmental disorder, x-linked 110	Enrichment	FGF13	2.07
222	Spinocerebellar ataxia 27b, late-onset	Enrichment	FGF14	2.07
223	Lessel-kubisch syndrome	Enrichment	MDM2	2.07
224	Diarrhea 9	Enrichment	WNT2B	2.07
225	Microphthalmia, syndromic 6	Enrichment	BMP4	2.07
226	Myeloid and lymphoid neoplasms associated with pdgfra rearrangement	Enrichment	PDGFRA	2.07
227	Developmental and epileptic encephalopathy 90	Enrichment	FGF13	2.07
228	Orofacial cleft 11	Enrichment	BMP4	2.07
229	T-cell large granular lymphocyte leukemia	Enrichment	STAT3	2.07
230	Metacarpal 4-5 fusion	Enrichment	FGF16	2.07
231	Osteoporosis-pseudoglioma syndrome	Enrichment	LRP5	2.07
232	Papillary tumor of the pineal region	Enrichment	PTEN	2.07
233	Lacrimoauriculodentodigital syndrome 3	Enrichment	FGF10	2.07
234	Familial isolated trichomegaly	Enrichment	FGF5	2.07
235	Coronary artery disease, autosomal dominant 2	Enrichment	LRP6	2.07
236	Bone mineral density quantitative trait locus 16	Enrichment	WNT1	2.07
237	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	2.07
238	Lymphangioma	Enrichment	BRAF	2.07
239	Crouzon syndrome with acanthosis nigricans	Enrichment	FGFR3	2.07
240	Polycystic liver disease 4 with or without kidney cysts	Enrichment	LRP5	2.07
241	Phace association	Enrichment	BRAF	2.07
242	Santos syndrome	Enrichment	WNT7A	2.07
243	Melorheostosis	Enrichment	MAP2K1	2.07
244	Leopard syndrome 2	Enrichment	RAF1	2.07
245	Multiple synostoses syndrome 3	Enrichment	FGF9	2.07
246	Basal ganglia calcification, idiopathic, 4	Enrichment	PDGFRB	2.07
247	Cardiofaciocutaneous syndrome 4	Enrichment	MAP2K2	2.07
248	Cowden syndrome 6	Enrichment	AKT1	2.07
249	Pulmonary hypertension, primary, 2	Enrichment	SMAD9	2.07
250	Immunodeficiency 14b, autosomal recessive	Enrichment	PIK3CD	2.07
251	Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement	Enrichment	PDGFRB	2.07
252	Colorectal cancer 3	Enrichment	SMAD7	2.07
253	Microphthalmia/coloboma 11	Enrichment	FZD5	2.07
254	Type 1 diabetes mellitus 20	Enrichment	HNF1A	2.07
255	Hypogonadotropic hypogonadism 6 with or without anosmia	Enrichment	FGF8	2.07
256	Glioma susceptibility 2	Enrichment	PTEN	2.07
257	Achondroplasia, severe, with developmental delay and acanthosis nigricans	Enrichment	FGFR3	2.07
258	Kosaki overgrowth syndrome	Enrichment	PDGFRB	2.07
259	Tumoral calcinosis, hyperphosphatemic, familial, 2	Enrichment	FGF23	2.07
260	Hartsfield syndrome	Enrichment	FGFR1	2.07
261	Renal hypodysplasia/aplasia 2	Enrichment	FGF20	2.07
262	Autoimmune disease, multisystem, infantile-onset, 1	Enrichment	STAT3	2.07
263	Hyper-ige syndrome 4b, autosomal recessive, with recurrent infections	Enrichment	IL6ST	2.07
264	Immunodeficiency 94 with autoinflammation and dysmorphic facies	Enrichment	IL6ST	2.07
265	Developmental and epileptic encephalopathy 47	Enrichment	FGF12	2.07
266	Ocular pterygium-digital keloid dysplasia syndrome	Enrichment	PDGFRB	2.07
267	Trigonitis	Enrichment	RAF1	2.07
268	Craniometadiaphyseal osteosclerosis with hip dysplasia	Enrichment	AXIN1	2.07
269	Adenoid ameloblastoma	Enrichment	CTNNB1	2.07
270	Lacrimoauriculodentodigital syndrome 2	Enrichment	FGFR3	2.07
271	Heritable thoracic aortic disease	Enrichment	SMAD4	2.07
272	Short-rib thoracic dysplasia 22 without polydactyly	Enrichment	FGF4	2.07
273	Lrp5-related primary osteoporosis	Enrichment	LRP5	2.07
274	Capillary hemangioma	Enrichment	AKT3	2.07
275	Stat3-related early-onset multisystem autoimmune disease	Enrichment	STAT3	2.07
276	Primary pulmonary hypertension	Enrichment	BMPR2	2.07
277	Pulmonary hypertension	Enrichment	BMPR2	2.07
278	Familial adenomatous polyposis	Enrichment	APC	2.07
279	Spinocerebellar ataxia type 27b	Enrichment	FGF14	2.07
280	Fgfr3-related chondrodysplasia	Enrichment	FGFR3	2.07
281	Drug- or toxin-induced pulmonary arterial hypertension	Enrichment	BMPR2	2.07
282	Syringocystadenoma papilliferum	Enrichment	BRAF	2.07
283	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	Enrichment	FGFR3	2.07
284	Ganglioglioma	Enrichment	BRAF	2.07
285	Nongerminomatous germ cell tumor	Enrichment	BRAF	2.07
286	Phace syndrome	Enrichment	BRAF	2.07
287	Gardner syndrome	Enrichment	APC	2.07
288	Osteosclerosis-developmental delay-craniosynostosis syndrome	Enrichment	LRP5	2.07
289	5q22 microdeletion syndrome	Enrichment	APC	2.07
290	Phakomatosis pigmentokeratotica	Enrichment	HRAS	2.07
291	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Enrichment	PTEN	2.07
292	Attenuated familial adenomatous polyposis	Enrichment	APC	2.07
293	Classic hairy cell leukemia	Enrichment	BRAF	2.07
294	Hartsfield-bixler-demyer syndrome	Enrichment	FGFR1	2.07
295	Chronic lymphoproliferative disorder of natural killer cells	Enrichment	STAT3	2.07
296	Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency	Enrichment	JAK1	2.07
297	Egf-related primary hypomagnesemia with intellectual disability	Enrichment	EGF	2.07
298	Non-syndromic unicoronal craniosynostosis	Enrichment	FGFR2	2.07
299	Interstitial lung disease specific to childhood	Enrichment	FGF10	2.07
300	Microcystic stromal tumor	Enrichment	CTNNB1	2.07
301	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	2.07
302	Malignant astrocytoma	Enrichment	PTPN11	2.07
303	Dandy-walker syndrome	Enrichment	BRAF, PDGFRB	2.04
304	Heart, malformation of	Enrichment	MAPK1, SMAD6	1.99
305	Palmoplantar keratoderma, punctate type ii	Enrichment	BRCA1	1.94
306	Macrodactyly	Enrichment	PIK3CA	1.94
307	Paget disease, extramammary	Enrichment	ERBB2	1.94
308	Oculoectodermal syndrome	Enrichment	KRAS	1.94
309	Oligodontia-colorectal cancer syndrome	Enrichment	AXIN2	1.94
310	Melanoma, cutaneous malignant 3	Enrichment	CDK4	1.94
311	Mastocytosis, cutaneous	Enrichment	KIT	1.94
312	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	1.94
313	Hajdu-cheney syndrome	Enrichment	NOTCH2	1.94
314	Alagille syndrome 2	Enrichment	NOTCH2	1.94
315	Glioma susceptibility 3	Enrichment	BRCA2	1.94
316	Lateral meningocele syndrome	Enrichment	NOTCH3	1.94
317	Cowden syndrome 5	Enrichment	PIK3CA	1.94
318	Seckel syndrome 1	Enrichment	ATR	1.94
319	Microcephaly 12, primary, autosomal recessive	Enrichment	CDK6	1.94
320	Mirror movements 2	Enrichment	RAD51	1.94
321	Melanosis, neurocutaneous	Enrichment	NRAS	1.94
322	Noonan syndrome 9	Enrichment	SOS2	1.94
323	Noonan syndrome 6	Enrichment	NRAS	1.94
324	Ectodermal dysplasia 17 with or without limb malformations	Enrichment	LEF1	1.94
325	Cerebral cavernous malformations 4	Enrichment	PIK3CA	1.94
326	Visceral neuropathy, familial, 2, autosomal recessive	Enrichment	ERBB2	1.94
327	Pyle disease	Enrichment	SFRP4	1.94
328	Fanconi anemia, complementation group r	Enrichment	RAD51	1.94
329	Adams-oliver syndrome 6	Enrichment	DLL4	1.94
330	Cortical dysplasia, complex, with other brain malformations 10	Enrichment	APC2	1.94
331	Short syndrome	Enrichment	PIK3R1	1.94
332	Bone marrow failure syndrome 5	Enrichment	TP53	1.94
333	Progesterone resistance	Enrichment	PGR	1.94
334	Papilloma of choroid plexus	Enrichment	TP53	1.94
335	Basal cell carcinoma 7	Enrichment	TP53	1.94
336	Anaplastic thyroid carcinoma	Enrichment	TP53	1.94
337	Infant-type hemispheric glioma	Enrichment	BRCA1	1.94
338	Pancreatic cancer 2	Enrichment	BRCA2	1.94
339	Intellectual developmental disorder, autosomal recessive 74	Enrichment	APC2	1.94
340	Cardiofaciocutaneous syndrome 2	Enrichment	KRAS	1.94
341	Hemifacial myohyperplasia	Enrichment	PIK3CA	1.94
342	Ataxia-telangiectasia-like disorder 1	Enrichment	MRE11	1.94
343	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	Enrichment	PIK3CA	1.94
344	Ovarian dysgenesis 8	Enrichment	ESR2	1.94
345	Cutaneous telangiectasia and cancer syndrome, familial	Enrichment	ATR	1.94
346	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	1.94
347	Myofibromatosis, infantile, 2	Enrichment	NOTCH3	1.94
348	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	1.94
349	Endometrial serous adenocarcinoma	Enrichment	ATM	1.94
350	Ductal carcinoma in situ	Enrichment	TP53	1.94
351	Congenital heart defects, multiple types, 7	Enrichment	FLT4	1.94
352	Muscular dystrophy, limb-girdle, autosomal recessive 27	Enrichment	JAG2	1.94
353	Okur-chung neurodevelopmental syndrome	Enrichment	CSNK2A1	1.94
354	Deficiency in anterior pituitary function - variable immunodeficiency syndrome	Enrichment	NFKB2	1.94
355	Chronic mast cell leukemia	Enrichment	KIT	1.94
356	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	1.94
357	Thyroid gland undifferentiated carcinoma	Enrichment	TP53	1.94
358	Sotos syndrome 3	Enrichment	APC2	1.94
359	Trilateral retinoblastoma	Enrichment	RB1	1.94
360	Small-cell carcinoma of the ovary of hypercalcemic type	Enrichment	TP53	1.94
361	Hypospadias	Enrichment	PIK3CA	1.94
362	Craniodigital syndrome and intellectual disability syndrome	Enrichment	CSNK2B	1.94
363	Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype	Enrichment	TP53	1.94
364	Transient cerebral ischemia	Enrichment	NOTCH3	1.94
365	Isolated bone marrow mastocytosis	Enrichment	KIT	1.94
366	Congenital pulmonary airway malformation	Enrichment	KRAS	1.94
367	B-cell non-hodgkin lymphoma	Enrichment	ATM	1.94
368	Smoldering systemic mastocytosis	Enrichment	KIT	1.94
369	Choroid plexus cancer	Enrichment	TP53	1.94
370	Rare venous malformation	Enrichment	PIK3CA	1.94
371	Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1	Enrichment	NOTCH3	1.94
372	Diaphragmatic eventration	Enrichment	PIK3CA	1.94
373	Mastocytosis	Enrichment	KIT	1.94
374	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	1.94
375	Pleomorphic xanthoastrocytoma	Enrichment	TP53	1.94
376	Rare combined vascular malformation	Enrichment	PIK3CA	1.94
377	Cavernous lymphangioma	Enrichment	PIK3CA	1.94
378	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	1.94
379	Cutaneous mastocytoma	Enrichment	KIT	1.94
380	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Enrichment	ATR	1.94
381	Typical urticaria pigmentosa	Enrichment	KIT	1.94
382	Nodular urticaria pigmentosa	Enrichment	KIT	1.94
383	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	1.94
384	Pseudoxanthomatous diffuse cutaneous mastocytosis	Enrichment	KIT	1.94
385	Telangiectasia macularis eruptiva perstans	Enrichment	KIT	1.94
386	Acute mast cell leukemia	Enrichment	KIT	1.94
387	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	1.94
388	Plaque-form urticaria pigmentosa	Enrichment	KIT	1.94
389	Macrodactyly of toe	Enrichment	PIK3CA	1.94
390	Serous carcinoma of the corpus uteri	Enrichment	ERBB2	1.94
391	Neurocutaneous melanocytosis	Enrichment	NRAS	1.94
392	Bullous diffuse cutaneous mastocytosis	Enrichment	KIT	1.94
393	Primary peritoneal carcinoma	Enrichment	BRCA1	1.94
394	Lung oat cell carcinoma	Enrichment	RB1	1.94
395	Testis seminoma	Enrichment	KIT	1.94
396	Wilms tumor 1	Enrichment	BRAF, BRCA2	1.91
397	Lynch syndrome	Enrichment	KRAS, PIK3CA	1.91
398	Septopreoptic holoprosencephaly	Enrichment	DLL1, FGF8	1.91
399	Midline interhemispheric variant of holoprosencephaly	Enrichment	DLL1, FGF8	1.91
400	Melanoma, cutaneous malignant 1	Enrichment	BRAF, CDK4	1.81
401	Alobar holoprosencephaly	Enrichment	DLL1, FGF8	1.81
402	Brittle bone disorder	Enrichment	LRP5, WNT1	1.79
403	Myeloproliferative disorder, chronic, with eosinophilia	Enrichment	PDGFRB	1.77
404	Fibromatosis, gingival, 1	Enrichment	SOS1	1.77
405	Myhre syndrome	Enrichment	SMAD4	1.77
406	Otodental dysplasia	Enrichment	FGF3	1.77
407	Scoliosis, isolated 1	Enrichment	MAPK7	1.77
408	Tooth agenesis, selective, 4	Enrichment	WNT10A	1.77
409	Costello syndrome	Enrichment	HRAS	1.77
410	Van buchem disease	Enrichment	LRP5	1.77
411	Trichomegaly	Enrichment	FGF5	1.77
412	Schopf-schulz-passarge syndrome	Enrichment	WNT10A	1.77
413	Pulmonary venoocclusive disease 1, autosomal dominant	Enrichment	BMPR2	1.77
414	Ulna and fibula, absence of, with severe limb deficiency	Enrichment	WNT7A	1.77
415	Bladder exstrophy and epispadias complex	Enrichment	WNT3	1.77
416	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	1.77
417	Pulmonary hypoplasia, primary	Enrichment	FGF10	1.77
418	Dermatofibrosarcoma protuberans	Enrichment	PDGFB	1.77
419	Cervical cancer	Enrichment	FGFR3	1.77
420	Odontoonychodermal dysplasia	Enrichment	WNT10A	1.77
421	Tetraamelia syndrome 1	Enrichment	WNT3	1.77
422	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Enrichment	SMAD4	1.77
423	Aural atresia, congenital	Enrichment	FGFR2	1.77
424	Keratosis, seborrheic	Enrichment	FGFR3	1.77
425	Osteogenesis imperfecta, type xv	Enrichment	WNT1	1.77
426	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	Enrichment	FGF3	1.77
427	Roifman-chitayat syndrome	Enrichment	PIK3CD	1.77
428	Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly	Enrichment	WNT7A	1.77
429	Antley-bixler syndrome without genital anomalies or disordered steroidogenesis	Enrichment	FGFR2	1.77
430	Werner syndrome	Enrichment	PTPN11	1.77
431	Cebalid syndrome	Enrichment	MTOR	1.77
432	Infantile myofibromatosis	Enrichment	PDGFRB	1.77
433	Pulmonary venoocclusive disease 1	Enrichment	BMPR2	1.77
434	Childhood hepatocellular carcinoma	Enrichment	CTNNB1	1.77
435	Senior-loken syndrome 7	Enrichment	AKT3	1.77
436	Split hand-foot malformation	Enrichment	FGFR2	1.77
437	Autoinflammation, immune dysregulation, and eosinophilia	Enrichment	JAK1	1.77
438	Periampullary adenoma	Enrichment	APC	1.77
439	Gastric adenocarcinoma and proximal polyposis of the stomach	Enrichment	APC	1.77
440	Cervix carcinoma	Enrichment	FGFR3	1.77
441	Immune system disease	Enrichment	PIK3CD	1.77
442	Aortic valve disease 2	Enrichment	SMAD6	1.77
443	Bardet-biedl syndrome 16	Enrichment	AKT3	1.77
444	Proximal symphalangism	Enrichment	NOG	1.77
445	Smith-kingsmore syndrome	Enrichment	MTOR	1.77
446	Craniosynostosis 7	Enrichment	SMAD6	1.77
447	Hereditary mixed polyposis syndrome	Enrichment	BMPR1A	1.77
448	Interfrontal craniofaciosynostosis	Enrichment	FGFR1	1.77
449	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	1.77
450	Radioulnar synostosis	Enrichment	SMAD6	1.77
451	Autosomal dominant nonsyndromic deafness	Enrichment	FGFR2	1.77
452	Chronic eosinophilic leukemia	Enrichment	PDGFRA	1.77
453	Vacterl with hydrocephalus	Enrichment	PTEN	1.77
454	Hyperinsulinism due to hnf1a deficiency	Enrichment	HNF1A	1.77
455	Pulmonary venoocclusive disease	Enrichment	BMPR2	1.77
456	Teratoma	Enrichment	CTNNB1	1.77
457	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality	Enrichment	PDGFRA	1.77
458	Osteosclerosis	Enrichment	LRP5	1.77
459	Bladder exstrophy-epispadias-cloacal exstrophy complex	Enrichment	WNT3	1.77
460	Tafro syndrome	Enrichment	MAP2K2	1.77
461	Oculootodental syndrome	Enrichment	FGF3	1.77
462	Idiopathic/heritable pulmonary arterial hypertension	Enrichment	BMPR2	1.77
463	Wooly hair nevus	Enrichment	HRAS	1.77
464	Esophageal atresia/tracheoesophageal fistula	Enrichment	APC2, BRCA2	1.71
465	Lymphatic malformation 1	Enrichment	FLT4	1.65
466	Ectrodactyly and ectodermal dysplasia without cleft lip/palate	Enrichment	LEF1	1.65
467	Burkitt lymphoma	Enrichment	MYC	1.65
468	Adrenocortical carcinoma, hereditary	Enrichment	TP53	1.65
469	Intracranial hypertension, idiopathic	Enrichment	FLT4	1.65
470	Xeroderma pigmentosum, complementation group e	Enrichment	DDB2	1.65
471	Piebald trait	Enrichment	KIT	1.65
472	Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies	Enrichment	POLK	1.65
473	Adams-oliver syndrome 5	Enrichment	NOTCH1	1.65
474	Chromosome 13q14 deletion syndrome	Enrichment	RB1	1.65
475	Noonan syndrome 8	Enrichment	PIK3CA	1.65
476	Lymphoma, hodgkin, classic	Enrichment	TP53	1.65
477	Immunodeficiency, common variable, 10	Enrichment	NFKB2	1.65
478	Osteopetrosis, autosomal recessive 2	Enrichment	TNFSF11	1.65
479	Fanconi anemia, complementation group s	Enrichment	BRCA1	1.65
480	Cardiac valvular dysplasia, x-linked	Enrichment	ATM	1.65
481	Poirier-bienvenu neurodevelopmental syndrome	Enrichment	CSNK2B	1.65
482	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	Enrichment	DLL1	1.65
483	Pancreatic cancer 4	Enrichment	BRCA1	1.65
484	Diffuse midline glioma, h3 k27m-mutant	Enrichment	BRCA2	1.65
485	Lipodystrophy, familial partial, type 1	Enrichment	NOTCH3	1.65
486	Depressive disorder	Enrichment	NOTCH3	1.65
487	Congenital fibrosarcoma	Enrichment	TP53	1.65
488	High grade glioma	Enrichment	ATM	1.65
489	Li-fraumeni syndrome 1	Enrichment	TP53	1.65
490	Sarcoma	Enrichment	TP53	1.65
491	Fanconi anemia, complementation group d1	Enrichment	BRCA2	1.65
492	Hodgkin's lymphoma	Enrichment	TP53	1.65
493	T-cell prolymphocytic leukemia	Enrichment	ATM	1.65
494	Hereditary lymphedema i	Enrichment	FLT4	1.65
495	Peritoneum cancer	Enrichment	BRCA1	1.65
496	Growth delay due to insulin-like growth factor type 1 deficiency	Enrichment	IGF1	1.65
497	Familial retinoblastoma	Enrichment	RB1	1.65
498	B-lymphoblastic leukemia/lymphoma with t	Enrichment	KIT	1.65
499	Xeroderma pigmentosum group e	Enrichment	DDB2	1.65
500	Pleomorphic rhabdomyosarcoma	Enrichment	TP53	1.65
501	Neuroendocrine tumor of pancreas	Enrichment	BRCA2	1.65
502	Brachydactyly, type a1	Enrichment	BMPR1B	1.59
503	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	STAT3	1.59
504	Achondroplasia	Enrichment	FGFR3	1.59
505	Brachydactyly, type c	Enrichment	BMPR1B	1.59
506	Hypogonadotropic hypogonadism 2 with or without anosmia	Enrichment	FGFR1	1.59
507	Larsen syndrome	Enrichment	FGFR3	1.59
508	Tumoral calcinosis, hyperphosphatemic, familial, 1	Enrichment	FGF23	1.59
509	Acromesomelic dysplasia 2a	Enrichment	BMPR1B	1.59
510	Hypophosphatemic rickets, autosomal dominant	Enrichment	FGF23	1.59
511	Acromesomelic dysplasia 2c	Enrichment	BMPR1B	1.59
512	Acromesomelic dysplasia 2b	Enrichment	BMPR1B	1.59
513	Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies	Enrichment	WNT4	1.59
514	Microphthalmia, syndromic 9	Enrichment	WNT7B	1.59
515	Tooth agenesis, selective, 2	Enrichment	WNT10A	1.59
516	Osteopetrosis, autosomal dominant 1	Enrichment	LRP5	1.59
517	Nuchal bleb, familial	Enrichment	SOS1	1.59
518	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	1.59
519	Chromosome 8p11 myeloproliferative syndrome	Enrichment	FGFR1	1.59
520	Cenani-lenz syndactyly syndrome	Enrichment	APC	1.59
521	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	1.59
522	Anus, imperforate	Enrichment	CTNNB1	1.59
523	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	1.59
524	Keratoderma-ichthyosis-deafness syndrome, autosomal recessive	Enrichment	HNF1A	1.59
525	Tethered spinal cord syndrome	Enrichment	BRAF	1.59
526	Hyper ige syndrome	Enrichment	STAT3	1.59
527	Dedifferentiated liposarcoma	Enrichment	MDM2	1.59
528	Hamartoma	Enrichment	FGFR3	1.59
529	Nail disease	Enrichment	FZD6	1.59
530	Testicular germ cell cancer	Enrichment	FGFR3	1.59
531	Chromophobe renal cell carcinoma	Enrichment	HNF1A	1.59
532	Laryngeal squamous cell carcinoma	Enrichment	PTEN	1.59
533	Tetraamelia syndrome	Enrichment	WNT3	1.59
534	Colon adenocarcinoma	Enrichment	APC	1.59
535	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	1.59
536	Tricuspid valve insufficiency	Enrichment	PTPN11	1.59
537	Well-differentiated liposarcoma	Enrichment	MDM2	1.59
538	Testicular cancer	Enrichment	FGFR3	1.59
539	Apc-associated polyposis conditions	Enrichment	APC	1.59
540	Prognathism, mandibular	Enrichment	CSNK2B	1.47
541	Retinoblastoma	Enrichment	RB1	1.47
542	Thyroid carcinoma, familial medullary	Enrichment	ESR2	1.47
543	Nijmegen breakage syndrome	Enrichment	NBN	1.47
544	Polycythemia vera	Enrichment	ATM	1.47
545	Pompe disease, infantile-onset	Enrichment	PIK3CA	1.47
546	Nasopharyngeal carcinoma	Enrichment	TP53	1.47
547	Estrogen resistance	Enrichment	ESR1	1.47
548	Woolly hair, autosomal recessive 3	Enrichment	RB1	1.47
549	Tumor predisposition syndrome 1	Enrichment	BRCA2	1.47
550	Hypotrichosis 8	Enrichment	RB1	1.47
551	Koolen-de vries syndrome	Enrichment	ATM	1.47
552	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	MYC	1.47
553	Atypical teratoid rhabdoid tumor	Enrichment	TP53	1.47
554	Leukodystrophy and acquired microcephaly with or without dystonia	Enrichment	DLL3	1.47
555	Anaplastic astrocytoma	Enrichment	TP53	1.47
556	T-cell acute lymphoblastic leukemia	Enrichment	BAX	1.47
557	Bap1 tumor predisposition syndrome	Enrichment	BRCA2	1.47
558	Growth delay due to insulin-like growth factor i resistance	Enrichment	IGF1R	1.47
559	Brachydactyly, type a2	Enrichment	BMPR1B	1.47
560	Acyl-coa dehydrogenase, very long-chain, deficiency of	Enrichment	DVL2	1.47
561	Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive	Enrichment	WNT10A	1.47
562	Neurofibromatosis-noonan syndrome	Enrichment	MAP2K2	1.47
563	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.47
564	Maturity-onset diabetes of the young, type 3	Enrichment	HNF1A	1.47
565	Focal cortical dysplasia, type ii	Enrichment	MTOR	1.47
566	Pilomatrixoma	Enrichment	CTNNB1	1.47
567	Alazami syndrome	Enrichment	CTNNB1	1.47
568	Congenital generalized lipodystrophy	Enrichment	FOS	1.47
569	Orofacial cleft	Enrichment	LRP6	1.47
570	Ectodermal dysplasia	Enrichment	WNT10A	1.47
571	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	PTPN11	1.47
572	Newborn respiratory distress syndrome	Enrichment	BRAF	1.47
573	Epidermolytic nevus	Enrichment	HRAS	1.47
574	Eyelid coloboma	Enrichment	FZD5	1.47
575	Non-syndromic bicoronal craniosynostosis	Enrichment	FGFR3	1.47
576	Isolated focal cortical dysplasia type ii	Enrichment	MTOR	1.47
577	Vitreoretinopathy	Enrichment	LRP5	1.47
578	Orofacial clefting syndrome	Enrichment	LRP6	1.47
579	Clear cell papillary renal cell carcinoma	Enrichment	HNF1A	1.47
580	Gingival fibromatosis	Enrichment	SOS1	1.47
581	Lens coloboma	Enrichment	FZD5	1.47
582	Autism spectrum disorder	Enrichment	CSNK2A1, CSNK2B, MAP2K1, PTEN	1.45
583	Norrie disease	Enrichment	FZD4	1.38
584	Macrocephaly/autism syndrome	Enrichment	PTEN	1.38
585	Familial adenomatous polyposis 1	Enrichment	APC	1.38
586	Lymphoma	Enrichment	PTPN11	1.38
587	Hemangioma	Enrichment	PTEN	1.38
588	Persistent hyperplastic primary vitreous	Enrichment	FZD4	1.38
589	Histiocytoid hemangioma	Enrichment	FOS	1.38
590	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Enrichment	WNT10A	1.38
591	Coloboma of choroid and retina	Enrichment	FZD5	1.38
592	Hirschsprung disease 1	Enrichment	AXIN2, ERBB2	1.37
593	Mirror movements 1	Enrichment	RAD51	1.35
594	Diffuse gastric and lobular breast cancer syndrome	Enrichment	KRAS	1.35
595	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	Enrichment	MRE11	1.35
596	Chordoma	Enrichment	BRCA2	1.35
597	Immunodeficiency, common variable, 1	Enrichment	NFKB2	1.35
598	Barrett esophagus	Enrichment	ERBB2	1.35
599	Lynch syndrome 4	Enrichment	RB1	1.35
600	Arthrogryposis multiplex congenita 3, myogenic type	Enrichment	ESR1	1.35
601	Enophthalmos	Enrichment	CSNK2B	1.35
602	Syndactyly	Enrichment	CSNK2B	1.35
603	Embryonal rhabdomyosarcoma	Enrichment	TP53	1.35
604	Pilocytic astrocytoma	Enrichment	KRAS	1.35
605	Familial cerebral cavernous malformations	Enrichment	PIK3CA	1.35
606	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Enrichment	KIT	1.35
607	Autosomal recessive osteopetrosis	Enrichment	TNFSF11	1.35
608	Systemic mastocytosis with associated hematologic neoplasm	Enrichment	KIT	1.35
609	Oculomotor apraxia	Enrichment	ATM	1.35
610	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	SOS2	1.35
611	Type 2 diabetes mellitus	Enrichment	AKT2, HNF1A	1.30
612	Li-fraumeni syndrome	Enrichment	MDM2	1.30
613	Coloboma of optic nerve	Enrichment	FZD5	1.30
614	Weyers acrofacial dysostosis	Enrichment	CTNNB1	1.30
615	Split-hand/foot malformation 1	Enrichment	FGFR2	1.30
616	Type 1 diabetes mellitus	Enrichment	HNF1A	1.30
617	Testicular germ cell tumor	Enrichment	FGFR3	1.30
618	Wilms tumor 5	Enrichment	BRAF	1.30
619	Anterior segment dysgenesis 5	Enrichment	BMP4	1.30
620	Renal dysplasia, cystic	Enrichment	WNT9B	1.30
621	Renal hypoplasia	Enrichment	WNT9B	1.30
622	Diarrhea	Enrichment	WNT2B	1.30
623	Patent ductus arteriosus	Enrichment	PTPN11	1.30
624	Clear cell renal cell carcinoma	Enrichment	HNF1A	1.30
625	46,xy disorder of sex development	Enrichment	FGFR3	1.30
626	Multicystic kidney dysplasia	Enrichment	FZD3	1.30
627	Multicystic dysplastic kidney	Enrichment	FZD3	1.30
628	Microcephaly	Enrichment	CTNNB1, IGF1R, MAPK1, NBN	1.29
629	Capillary malformations, congenital	Enrichment	PIK3CA	1.26
630	Sotos syndrome	Enrichment	APC2	1.26
631	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	Enrichment	NOTCH3	1.26
632	Von hippel-lindau syndrome	Enrichment	CCND1	1.26
633	Rhabdomyosarcoma 2	Enrichment	TP53	1.26
634	Acute myeloid leukemia with maturation	Enrichment	KIT	1.26
635	Glioblastoma	Enrichment	ATM	1.26
636	Aplasia cutis congenita	Enrichment	DLL4	1.26
637	Vascular dementia	Enrichment	NOTCH3	1.26
638	Acute myeloid leukemia with t(8;21)(q22;q22) translocation	Enrichment	KIT	1.26
639	Coats disease	Enrichment	FZD4	1.23
640	Gastrointestinal stromal tumor	Enrichment	PDGFRA	1.23
641	Hereditary hemorrhagic telangiectasia	Enrichment	SMAD4	1.23
642	Megacolon	Enrichment	AKT3	1.23
643	Hypophosphatemic rickets	Enrichment	FGF23	1.23
644	Congenital nervous system abnormality	Enrichment	CTNNB1, FGFR3, PTEN	1.20
645	Nervous system disease	Enrichment	CTNNB1, FGFR3, PTEN	1.20
646	Thrombocytopenia	Enrichment	PTPN11, SMAD4	1.20
647	Klippel-trenaunay-weber syndrome	Enrichment	PIK3CA	1.18
648	Kabuki syndrome 1	Enrichment	BRCA2	1.18
649	Hemihyperplasia, isolated	Enrichment	PIK3CA	1.18
650	Hemangioma, capillary infantile	Enrichment	FLT4	1.18
651	Spondylocostal dysostosis, autosomal recessive	Enrichment	DLL3	1.18
652	Renal hypodysplasia/aplasia 1	Enrichment	WNT9B	1.18
653	Permanent neonatal diabetes mellitus	Enrichment	STAT3	1.18
654	Isolated split hand-split foot malformation	Enrichment	WNT10B	1.18
655	Tooth agenesis, selective, 1	Enrichment	BMPR2	1.13
656	Orofacial cleft 1	Enrichment	FGF10	1.13
657	Cardiomyopathy, familial hypertrophic, 4	Enrichment	BRAF	1.13
658	Polydactyly	Enrichment	SMAD6	1.13
659	Hypogonadotropic hypogonadism	Enrichment	FGFR1	1.13
660	Ventricular septal defect	Enrichment	BRAF	1.13
661	Esophageal cancer	Enrichment	TP53	1.11
662	Multiple endocrine neoplasia, type i	Enrichment	CDKN1A	1.11
663	Essential thrombocythemia	Enrichment	TP53	1.11
664	Common variable immunodeficiency	Enrichment	NFKB2	1.11
665	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	TP53	1.11
666	Cat eye syndrome	Enrichment	FZD5	1.08
667	Meier-gorlin syndrome 1	Enrichment	FGFR2	1.08
668	Peters-plus syndrome	Enrichment	BMP4	1.08
669	Stickler syndrome	Enrichment	BMP4	1.08
670	Polymicrogyria	Enrichment	AKT3	1.08
671	Primary bone dysplasia	Enrichment	FGFR3	1.08
672	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	FGF8, PTPN11	1.08
673	Isolated growth hormone deficiency, type ia	Enrichment	BRCA2	1.06
674	Spondylocostal dysostosis 1, autosomal recessive	Enrichment	DLL3	1.06
675	Hypoplastic left heart syndrome	Enrichment	NOTCH1	1.06
676	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	HEY2, NOTCH1	1.05
677	Pectus excavatum	Enrichment	PTPN11	1.04
678	Osteochondrodysplasia	Enrichment	FGFR3	1.04
679	Diabetes mellitus	Enrichment	HNF1A	1.04
680	Septooptic dysplasia	Enrichment	FGFR1	1.01
681	Digeorge syndrome	Enrichment	HNF1A	1.01
682	Congenital long qt syndrome	Enrichment	PTPN11	1.01
683	Microphthalmia/coloboma 12	Enrichment	FZD5	0.98
684	Osteogenesis imperfecta, type iv	Enrichment	WNT1	0.98
685	Pulmonary hypertension, primary, 1	Enrichment	BMPR2	0.98
686	Acute promyelocytic leukemia	Enrichment	STAT3	0.98
687	Chronic kidney disease	Enrichment	WNT9B	0.98
688	Lynch syndrome 1	Enrichment	ATM	0.97
689	Stroke, ischemic	Enrichment	NOTCH3	0.97
690	Aplastic anemia	Enrichment	NBN	0.97
691	Familial colorectal cancer	Enrichment	TP53	0.97
692	Autosomal dominant non-syndromic intellectual disability	Enrichment	CSNK2B, DLL1	0.96
693	Hypogonadotropic hypogonadism 7 with or without anosmia	Enrichment	FGFR1	0.95
694	Aortic aneurysm, familial thoracic 1	Enrichment	SMAD6	0.95
695	Generalized epilepsy with febrile seizures plus	Enrichment	FGF13	0.95
696	46,xy partial gonadal dysgenesis	Enrichment	SOS1	0.95
697	Immune deficiency disease	Enrichment	ATM	0.93
698	Xeroderma pigmentosum, variant type	Enrichment	DDB2	0.93
699	Leukemia, acute lymphoblastic	Enrichment	NBN	0.93
700	Myelodysplastic syndrome	Enrichment	TP53	0.93
701	Coloboma of macula	Enrichment	FZD5	0.92
702	Osteogenesis imperfecta, type iii	Enrichment	WNT1	0.92
703	Rare genetic intellectual disability	Enrichment	MTOR	0.92
704	Premature menopause	Enrichment	NBN	0.86
705	Protein-deficiency anemia	Enrichment	NRAS	0.86
706	Nk-cell enteropathy	Enrichment	IGF1R	0.86
707	Patent foramen ovale	Enrichment	PTPN11	0.84
708	Primary ovarian insufficiency	Enrichment	NBN, NOTCH2	0.84
709	Periventricular nodular heterotopia	Enrichment	BRCA1	0.83
710	Seckel syndrome	Enrichment	ATR	0.83
711	Dilated cardiomyopathy	Enrichment	BRAF, RAF1	0.83
712	Macs syndrome	Enrichment	WNT7B	0.80
713	Maturity-onset diabetes of the young	Enrichment	HNF1A	0.80
714	Microphthalmia	Enrichment	WNT7B	0.76
715	Cardiomyopathy, familial hypertrophic, 1	Enrichment	RAF1	0.73
716	Scoliosis	Enrichment	PTPN11	0.73
717	Strabismus	Enrichment	PTPN11	0.68
718	Lissencephaly	Enrichment	NBN	0.67
719	Myocardial infarction	Enrichment	ESR1	0.65
720	Long qt syndrome 1	Enrichment	PTPN11	0.64
721	Diamond-blackfan anemia 1	Enrichment	TP53	0.64
722	Precursor t-cell acute lymphoblastic leukemia	Enrichment	MYC	0.64
723	Connective tissue disease	Enrichment	FGFR3	0.62
724	Familial hypertrophic cardiomyopathy	Enrichment	RAF1	0.61
725	Cakut	Enrichment	LIFR	0.60
726	Auditory neuropathy	Enrichment	NOTCH3	0.59
727	Left ventricular noncompaction	Enrichment	RAF1	0.59
728	Cerebral palsy	Enrichment	PDGFRB	0.55
729	Distal arthrogryposis	Enrichment	FZD3	0.52
730	Primary autosomal recessive microcephaly	Enrichment	CDK6	0.51
731	Hypertrophic cardiomyopathy	Enrichment	PTPN11	0.51
732	Diamond-blackfan anemia	Enrichment	TP53	0.47
733	Hypertelorism	Enrichment	FGFR2	0.44
734	Familial isolated dilated cardiomyopathy	Enrichment	RAF1	0.44
735	Undetermined early-onset epileptic encephalopathy	Enrichment	FGF12	0.42
736	Complex neurodevelopmental disorder	Enrichment	CSNK2A1, TCF7L2	0.38
737	Autism	Enrichment	TCF7L2	0.25
738	Hereditary retinal dystrophy	Enrichment	FZD4, LRP5	0.15
739	Fundus dystrophy	Enrichment	FZD4, LRP5	0.15

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

Breast cancer pathway

Pathway Network for Breast cancer pathway

Member Pathways for Breast cancer pathway

Pathways in the Breast cancer pathway SuperPath

Associated Genes for Breast cancer pathway

Associated Disorders for Breast cancer pathway

Disorders associated with Breast cancer pathway SuperPath

STRING Interaction Network for Breast cancer pathway

Sources for Breast cancer pathway