Development EGFR signaling pathway

Pathway network for the Development EGFR signaling pathway SuperPath

Sources:

GeneGo (Thomson Reuters)
QIAGEN
Sino Biological
PubChem

Pathways in the Development EGFR signaling pathway SuperPath

#	Name	Source	Genes
1	Development EGFR signaling pathway	GeneGo (Thomson Reuters)	AKT1 AKT2 AKT3 AREG BTC CBL CHUK DOK2 DUSP1 DUSP4 EGF EGFR ELK1 ERBB2 EREG FOS GRB2 GSK3B HBEGF HRAS IKBKB ILK JAK1 JAK2 JUN MAP2K1 MAP2K2 MAP2K4 MAP2K7 MAP3K10 MAPK1 MAPK3 MAPK8 MAPK9 MMP2 MMP9 MYC NCK1 NFKB1 NFKB2 NFKBIA NFKBIB NFKBIE PAK1 PDPK1 PIK3CA PIK3CB PIK3CD PIK3R1 PIK3R2 PLCG1 PRKCA PRKCB PRKCE PRKCG PRKCQ PTK2 RAC1 RAF1 RASA1 REL RELA RELB SHC1 SOS1 SOS2 SRC STAT1 STAT3 TGFA (see all 70) (see less)
2	EGF Pathway	QIAGEN	ABI1 AKT1 AKT2 AKT3 ARAF BRAF CAV1 CAV2 CBL CDH1 CHUK CSK CTNNB1 DIRAS3 DOK2 EGF EGFR ELK1 EPS8 ERBB2 FOS GAB1 GRB2 HRAS IKBKB IKBKE IKBKG JAK1 JAK2 JUN KRAS MAP2K1 MAP2K2 MAP2K4 MAP2K7 MAP3K10 MAPK1 MAPK10 MAPK3 MAPK8 MAPK9 MRAS MUC1 MYC NCK1 NCK2 NFKB1 NRAS PAK1 PDPK1 PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 PLCG1 PRKCA PRKCB PRKCD PRKCE PRKCG PRKCH PRKCI PRKCQ PRKCZ PRKD1 PRKD3 PTK2 PXN RAB5A RAC1 RAF1 RASA1 RHOA RHOB RHOC RHOD RHOG RHOH RND2 RND3 RRAS RRAS2 SOS1 SOS2 SRC STAT1 STAT3 VAV1 VAV2 VAV3 (see all 91) (see less)
3	EGFR Signaling Pathway	Sino Biological	AKT1 AKT2 AKT3 CAMK1 CAMK1D CAMK1G CAMK2A CAMK2B CAMK2G CAMK4 CAMKK1 CAMKV CASP1 CASP10 CASP14 CASP2 CASP3 CASP4 CASP5 CASP6 CASP7 CASP8 CASP9 CBL CDH1 CSK CTNNB1 DAG1 DCLK1 EGF EGFR ELK1 FOS GRB2 HRAS IKBKB IKBKE JAK1 JAK2 JUN KRAS MAP2K1 MAP2K2 MAP2K4 MAP3K1 MAPK1 MAPK3 MAPK6 MAPK7 MDM2 MTOR MUC1 MYC NFKB1 NRAS PAK1 PDPK1 PIK3CB PNCK PRKCA PRKCB PRKCD PRKCE PRKCG PRKCH PRKCI PRKCZ RAC1 RAF1 REL RELA RHOA RPS6KA6 SHC1 SHC4 STAT1 STAT3 TP53 XIAP (see all 79) (see less)
4	Development ERBB-family signaling	GeneGo (Thomson Reuters)	AKT1 AKT2 AKT3 AREG BTC CBL CHUK EGF EGFR ELK1 ERBB2 ERBB3 ERBB4 EREG FOS GRB2 GRB7 HBEGF HRAS IKBKB IKBKG MAP2K1 MAP2K2 MAP3K14 MAPK1 MAPK3 MYC NFKB1 NFKB2 NFKBIA NFKBIB NFKBIE NRG1 NRG2 NRG3 NRG4 PIK3CA PIK3CB PIK3CD PIK3R1 PIK3R2 PIK3R3 PLCG1 RAF1 REL RELA RELB SHC1 SOS1 SOS2 TGFA (see all 51) (see less)
5	ErbB receptor signaling network	PubChem	AREG BTC EGF EGFR ERBB2 ERBB3 ERBB4 EREG HBEGF HSP90AA1 NRG1 NRG2 NRG3 NRG4 TGFA (see all 15) (see less)

Gene overlap in member pathways for Development EGFR signaling pathway SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	EGF	Epidermal Growth Factor	Protein Coding	5
2	EGFR	Epidermal Growth Factor Receptor	Protein Coding	5
3	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	4
4	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	4
5	CBL	Cbl Proto-Oncogene	Protein Coding	4
6	ELK1	ETS Transcription Factor ELK1	Protein Coding	4
7	ERBB2	Erb-B2 Receptor Tyrosine Kinase 2	Protein Coding	4
8	FOS	Fos Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	4
9	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	4
10	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	4
11	IKBKB	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta	Protein Coding	4
12	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	4
13	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	4
14	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	4
15	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	4
16	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	4
17	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	4
18	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	4
19	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	4
20	AREG	Amphiregulin	Protein Coding	3
21	BTC	Betacellulin	Protein Coding	3
22	CHUK	Component Of Inhibitor Of Nuclear Factor Kappa B Kinase Complex	Protein Coding	3
23	HBEGF	Heparin Binding EGF Like Growth Factor	Protein Coding	3
24	EREG	Epiregulin	Protein Coding	3
25	JAK1	Janus Kinase 1	Protein Coding	3
26	JAK2	Janus Kinase 2	Protein Coding	3
27	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	3
28	PAK1	P21 (RAC1) Activated Kinase 1	Protein Coding	3
29	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	3
30	PIK3CB	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta	Protein Coding	3
31	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	3
32	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	3
33	PLCG1	Phospholipase C Gamma 1	Protein Coding	3
34	PRKCA	Protein Kinase C Alpha	Protein Coding	3
35	PRKCB	Protein Kinase C Beta	Protein Coding	3
36	PRKCE	Protein Kinase C Epsilon	Protein Coding	3
37	PRKCG	Protein Kinase C Gamma	Protein Coding	3
38	RAC1	Rac Family Small GTPase 1	Protein Coding	3
39	REL	REL Proto-Oncogene, NF-KB Subunit	Protein Coding	3
40	RELA	RELA Proto-Oncogene, NF-KB Subunit	Protein Coding	3
41	MAP2K4	Mitogen-Activated Protein Kinase Kinase 4	Protein Coding	3
42	SHC1	SHC Adaptor Protein 1	Protein Coding	3
43	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	3
44	SOS2	SOS Ras/Rho Guanine Nucleotide Exchange Factor 2	Protein Coding	3
45	STAT1	Signal Transducer And Activator Of Transcription 1	Protein Coding	3
46	STAT3	Signal Transducer And Activator Of Transcription 3	Protein Coding	3
47	TGFA	Transforming Growth Factor Alpha	Protein Coding	3
48	MAP3K10	Mitogen-Activated Protein Kinase Kinase Kinase 10	Protein Coding	2
49	NCK1	NCK Adaptor Protein 1	Protein Coding	2
50	NFKB2	Nuclear Factor Kappa B Subunit 2	Protein Coding	2
51	NFKBIA	NFKB Inhibitor Alpha	Protein Coding	2
52	NFKBIB	NFKB Inhibitor Beta	Protein Coding	2
53	NFKBIE	NFKB Inhibitor Epsilon	Protein Coding	2
54	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	2
55	PIK3CD	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta	Protein Coding	2
56	PRKCQ	Protein Kinase C Theta	Protein Coding	2
57	MAPK8	Mitogen-Activated Protein Kinase 8	Protein Coding	2
58	MAPK9	Mitogen-Activated Protein Kinase 9	Protein Coding	2
59	MAP2K7	Mitogen-Activated Protein Kinase Kinase 7	Protein Coding	2
60	PTK2	Protein Tyrosine Kinase 2	Protein Coding	2
61	RASA1	RAS P21 Protein Activator 1	Protein Coding	2
62	RELB	RELB Proto-Oncogene, NF-KB Subunit	Protein Coding	2
63	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	2
64	DOK2	Docking Protein 2	Protein Coding	2
65	RHOA	Ras Homolog Family Member A	Protein Coding	2
66	CDH1	Cadherin 1	Protein Coding	2
67	CSK	C-Terminal Src Kinase	Protein Coding	2
68	CTNNB1	Catenin Beta 1	Protein Coding	2
69	IKBKE	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Epsilon	Protein Coding	2
70	IKBKG	Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma	Protein Coding	2
71	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	2
72	MUC1	Mucin 1, Cell Surface Associated	Protein Coding	2
73	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	2
74	PIK3R3	Phosphoinositide-3-Kinase Regulatory Subunit 3	Protein Coding	2
75	PRKCD	Protein Kinase C Delta	Protein Coding	2
76	PRKCH	Protein Kinase C Eta	Protein Coding	2
77	PRKCI	Protein Kinase C Iota	Protein Coding	2
78	PRKCZ	Protein Kinase C Zeta	Protein Coding	2
79	ERBB3	Erb-B2 Receptor Tyrosine Kinase 3	Protein Coding	2
80	ERBB4	Erb-B2 Receptor Tyrosine Kinase 4	Protein Coding	2
81	NRG1	Neuregulin 1	Protein Coding	2
82	NRG2	Neuregulin 2	Protein Coding	2
83	NRG3	Neuregulin 3	Protein Coding	2
84	NRG4	Neuregulin 4	Protein Coding	2
85	DUSP1	Dual Specificity Phosphatase 1	Protein Coding	1
86	DUSP4	Dual Specificity Phosphatase 4	Protein Coding	1
87	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	1
88	ILK	Integrin Linked Kinase	Protein Coding	1
89	MMP2	Matrix Metallopeptidase 2	Protein Coding	1
90	MMP9	Matrix Metallopeptidase 9	Protein Coding	1
91	ARAF	A-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
92	RHOB	Ras Homolog Family Member B	Protein Coding	1
93	RHOC	Ras Homolog Family Member C	Protein Coding	1
94	RHOD	Ras Homolog Family Member D	Protein Coding	1
95	RND3	Rho Family GTPase 3	Protein Coding	1
96	RHOG	Ras Homolog Family Member G	Protein Coding	1
97	RHOH	Ras Homolog Family Member H	Protein Coding	1
98	DIRAS3	DIRAS Family GTPase 3	Protein Coding	1
99	RND2	Rho Family GTPase 2	Protein Coding	1
100	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
101	CAV1	Caveolin 1	Protein Coding	1
102	CAV2	Caveolin 2	Protein Coding	1
103	EPS8	EGFR Pathway Substrate 8, Signaling Adaptor	Protein Coding	1
104	GAB1	GRB2 Associated Binding Protein 1	Protein Coding	1
105	MAPK10	Mitogen-Activated Protein Kinase 10	Protein Coding	1
106	MRAS	Muscle RAS Oncogene Homolog	Protein Coding	1
107	NCK2	NCK Adaptor Protein 2	Protein Coding	1
108	PIK3R5	Phosphoinositide-3-Kinase Regulatory Subunit 5	Protein Coding	1
109	PIK3R4	Phosphoinositide-3-Kinase Regulatory Subunit 4	Protein Coding	1
110	PRKD1	Protein Kinase D1	Protein Coding	1
111	PRKD3	Protein Kinase D3	Protein Coding	1
112	PXN	Paxillin	Protein Coding	1
113	RAB5A	RAB5A, Member RAS Oncogene Family	Protein Coding	1
114	RRAS	RAS Related	Protein Coding	1
115	RRAS2	RAS Related 2	Protein Coding	1
116	ABI1	Abl Interactor 1	Protein Coding	1
117	VAV1	Vav Guanine Nucleotide Exchange Factor 1	Protein Coding	1
118	VAV2	Vav Guanine Nucleotide Exchange Factor 2	Protein Coding	1
119	VAV3	Vav Guanine Nucleotide Exchange Factor 3	Protein Coding	1
120	CAMK1	Calcium/Calmodulin Dependent Protein Kinase I	Protein Coding	1
121	CAMK1D	Calcium/Calmodulin Dependent Protein Kinase ID	Protein Coding	1
122	CAMK1G	Calcium/Calmodulin Dependent Protein Kinase IG	Protein Coding	1
123	CAMK2A	Calcium/Calmodulin Dependent Protein Kinase II Alpha	Protein Coding	1
124	CAMK2B	Calcium/Calmodulin Dependent Protein Kinase II Beta	Protein Coding	1
125	CAMK2G	Calcium/Calmodulin Dependent Protein Kinase II Gamma	Protein Coding	1
126	CAMK4	Calcium/Calmodulin Dependent Protein Kinase IV	Protein Coding	1
127	CAMKK1	Calcium/Calmodulin Dependent Protein Kinase Kinase 1	Protein Coding	1
128	CAMKV	CaM Kinase Like Vesicle Associated	Protein Coding	1
129	CASP1	Caspase 1	Protein Coding	1
130	CASP10	Caspase 10	Protein Coding	1
131	CASP14	Caspase 14	Protein Coding	1
132	CASP2	Caspase 2	Protein Coding	1
133	CASP3	Caspase 3	Protein Coding	1
134	CASP4	Caspase 4	Protein Coding	1
135	CASP5	Caspase 5	Protein Coding	1
136	CASP6	Caspase 6	Protein Coding	1
137	CASP7	Caspase 7	Protein Coding	1
138	CASP8	Caspase 8	Protein Coding	1
139	CASP9	Caspase 9	Protein Coding	1
140	DAG1	Dystroglycan 1	Protein Coding	1
141	DCLK1	Doublecortin Like Kinase 1	Protein Coding	1
142	MAP3K1	Mitogen-Activated Protein Kinase Kinase Kinase 1	Protein Coding	1
143	MAPK6	Mitogen-Activated Protein Kinase 6	Protein Coding	1
144	MAPK7	Mitogen-Activated Protein Kinase 7	Protein Coding	1
145	MDM2	MDM2 Proto-Oncogene	Protein Coding	1
146	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	1
147	PNCK	Pregnancy Up-Regulated Nonubiquitous CaM Kinase	Protein Coding	1
148	RPS6KA6	Ribosomal Protein S6 Kinase A6	Protein Coding	1
149	SHC4	SHC Adaptor Protein 4	Protein Coding	1
150	TP53	Tumor Protein P53	Protein Coding	1
151	XIAP	X-Linked Inhibitor Of Apoptosis	Protein Coding	1
152	GRB7	Growth Factor Receptor Bound Protein 7	Protein Coding	1
153	MAP3K14	Mitogen-Activated Protein Kinase Kinase Kinase 14	Protein Coding	1
154	HSP90AA1	Heat Shock Protein 90 Alpha Family Class A Member 1	Protein Coding	1

Disorders associated with Development EGFR signaling pathway SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Lung non-small cell carcinoma	Enrichment	BRAF, EGFR, ERBB2, HRAS, KRAS, MAP2K1, NRAS	16.00
2	Rasopathy	Enrichment	CBL, HRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS2	16.00
3	Noonan syndrome 1	Enrichment	CBL, HRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS2	11.51
4	Noonan syndrome and noonan-related syndrome	Enrichment	CBL, HRAS, MAP2K1, MAP2K2, RAF1, SOS1	11.06
5	Cardiofaciocutaneous syndrome 1	Enrichment	BRAF, KRAS, MAP2K1, MAP2K2	8.71
6	Cardiofaciocutaneous syndrome	Enrichment	BRAF, KRAS, MAP2K1, MAP2K2	8.71
7	Noonan syndrome 3	Enrichment	HRAS, KRAS, RAF1, SOS1	7.18
8	Bladder cancer	Enrichment	EGFR, ERBB2, ERBB3, HRAS, PIK3CA	7.17
9	Arteriovenous malformation	Enrichment	HRAS, MAP2K1, PIK3CA, RASA1	7.09
10	Colorectal cancer	Enrichment	AKT1, BRAF, CDH1, CTNNB1, ERBB2, NRAS, PIK3R1, SRC	6.94
11	Melanocytic nevus syndrome, congenital	Enrichment	BRAF, HRAS, NRAS, RAF1	6.89
12	Adult hepatocellular carcinoma	Enrichment	CASP8, CTNNB1, EGF, TP53	6.88
13	Breast implant-associated anaplastic large cell lymphoma	Enrichment	JAK1, JAK2, STAT3	6.88
14	Myopathy, x-linked, with excessive autophagy	Enrichment	HRAS, MAP2K1, PIK3CA, RASA1	6.87
15	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3, PIK3CA, PIK3R2	6.70
16	Breast cancer	Enrichment	AKT1, CASP8, CDH1, JUN, KRAS, SHC1, TP53	6.60
17	Langerhans cell histiocytosis	Enrichment	BRAF, MAP2K1, NRAS	6.53
18	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS, KRAS, NRAS	6.12
19	Juvenile myelomonocytic leukemia	Enrichment	CBL, KRAS, NRAS, RRAS	6.05
20	Lung cancer susceptibility 3	Enrichment	BRAF, EGFR, ERBB2, KRAS	5.74
21	Ovarian cancer	Enrichment	AKT1, CDH1, CTNNB1, EGFR, KRAS, MAP3K1, TP53	5.72
22	Breast adenocarcinoma	Enrichment	AKT1, KRAS, TP53	5.43
23	Hirschsprung disease 1	Enrichment	ERBB2, ERBB3, NRG3	5.41
24	Capillary malformation-arteriovenous malformation 1	Enrichment	MAP2K1, PIK3CA, RASA1	5.34
25	Nevus, epidermal	Enrichment	HRAS, KRAS, NRAS	5.18
26	Gallbladder cancer	Enrichment	CTNNB1, KRAS, TP53	5.18
27	Thyroid cancer, nonmedullary, 2	Enrichment	BRAF, HRAS, NRAS	5.00
28	Pilomyxoid astrocytoma	Enrichment	BRAF, KRAS, RAF1	5.00
29	Follicular thyroid carcinoma	Enrichment	BRAF, HRAS, NRAS	5.00
30	Lip and oral cavity carcinoma	Enrichment	EGFR, HRAS, PIK3CA	4.97
31	Ectodermal dysplasia and immune deficiency	Enrichment	IKBKG, NFKBIA	4.86
32	Ras-associated autoimmune leukoproliferative disorder	Enrichment	KRAS, NRAS	4.48
33	Differentiated thyroid carcinoma	Enrichment	BRAF, HRAS, KRAS, NRAS	4.40
34	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3CA, PIK3R1	4.38
35	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3CD, PIK3R1	4.38
36	Immunodeficiency 14	Enrichment	PIK3CD, PIK3R1	4.38
37	Pulmonic stenosis	Enrichment	BRAF, SOS1	4.35
38	Lung cancer	Enrichment	BRAF, EGFR, ERBB2, KRAS	4.23
39	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3, PIK3R2	4.08
40	Leukemia, acute myeloid	Enrichment	JAK2, KRAS, NRAS, TP53	4.08
41	Large congenital melanocytic nevus	Enrichment	HRAS, NRAS	4.00
42	Rhabdomyosarcoma	Enrichment	CBL, HRAS, TP53	4.00
43	Gastric cancer	Enrichment	CASP10, CDH1, KRAS, TP53	3.96
44	Hereditary breast carcinoma	Enrichment	AKT1, CDH1, KRAS, TP53	3.92
45	Hemimegalencephaly	Enrichment	AKT3, PIK3CA	3.86
46	Diffuse gastric and lobular breast cancer syndrome	Enrichment	CDH1, KRAS	3.70
47	Lung sarcomatoid carcinoma	Enrichment	KRAS, TP53	3.70
48	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	KRAS, NRAS	3.70
49	Cowden syndrome 1	Enrichment	EGFR, PIK3CA	3.69
50	Lung squamous cell carcinoma	Enrichment	EGFR, PIK3CA	3.69
51	Capillary malformations, congenital	Enrichment	PIK3CA, RASA1	3.59
52	Myeloproliferative neoplasm	Enrichment	CBL, JAK2	3.59
53	Arteriovenous malformations of the brain	Enrichment	BRAF, EGFR, KRAS	3.58
54	Craniopharyngioma	Enrichment	BRAF, CTNNB1	3.58
55	Noonan syndrome with multiple lentigines	Enrichment	BRAF, RAF1	3.58
56	Hepatocellular carcinoma	Enrichment	CASP8, CTNNB1, TP53	3.57
57	Common variable immunodeficiency	Enrichment	NFKB1, NFKB2	3.54
58	Klippel-trenaunay-weber syndrome	Enrichment	PIK3CA, RASA1	3.41
59	Cowden syndrome	Enrichment	AKT1, PIK3CA	3.31
60	Li-fraumeni syndrome	Enrichment	MDM2, TP53	3.31
61	Adrenocortical carcinoma	Enrichment	CTNNB1, TP53	3.31
62	Myelofibrosis	Enrichment	JAK2, SRC	3.27
63	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3CD, PIK3R1	3.21
64	Squamous cell carcinoma, head and neck	Enrichment	EGFR, TP53	3.16
65	Leukemia, chronic myeloid	Enrichment	KRAS, NRAS	3.16
66	Essential thrombocythemia	Enrichment	JAK2, TP53	3.16
67	Meningioma	Enrichment	AKT1, PIK3CA	3.05
68	Lymphoma, non-hodgkin, familial	Enrichment	CASP10, TP53	3.04
69	Nk-cell enteropathy	Enrichment	ERBB4, PIK3CB	2.98
70	Erythroleukemia, familial	Enrichment	ERBB3	2.96
71	Paget disease, extramammary	Enrichment	ERBB2	2.96
72	Hypomagnesemia 4, renal	Enrichment	EGF	2.96
73	Lethal congenital contracture syndrome 2	Enrichment	ERBB3	2.96
74	Visceral neuropathy, familial, 2, autosomal recessive	Enrichment	ERBB2	2.96
75	Amyotrophic lateral sclerosis 19	Enrichment	ERBB4	2.96
76	Egf-related primary hypomagnesemia with intellectual disability	Enrichment	EGF	2.96
77	Serous carcinoma of the corpus uteri	Enrichment	ERBB2	2.96
78	Gliosarcoma	Enrichment	EGFR, NFKBIA	2.79
79	Giant cell glioblastoma	Enrichment	EGFR, NFKBIA	2.74
80	Visceral neuropathy, familial, 1, autosomal recessive	Enrichment	ERBB3	2.66
81	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	2.48
82	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	2.48
83	Macrodactyly	Enrichment	PIK3CA	2.42
84	Proteus syndrome	Enrichment	AKT1	2.42
85	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	2.42
86	Incontinentia pigmenti	Enrichment	IKBKG	2.42
87	Autoinflammatory disease, systemic, x-linked	Enrichment	IKBKG	2.42
88	Noonan syndrome 5	Enrichment	RAF1	2.42
89	Noonan syndrome 4	Enrichment	SOS1	2.42
90	Melorheostosis, isolated	Enrichment	MAP2K1	2.42
91	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	2.42
92	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	2.42
93	Cowden syndrome 5	Enrichment	PIK3CA	2.42
94	Cardiofaciocutaneous syndrome 3	Enrichment	MAP2K1	2.42
95	Noonan syndrome 9	Enrichment	SOS2	2.42
96	Fetal encasement syndrome	Enrichment	CHUK	2.42
97	Cerebral cavernous malformations 4	Enrichment	PIK3CA	2.42
98	Immunodeficiency 15b	Enrichment	IKBKB	2.42
99	Noonan syndrome 13	Enrichment	MAPK1	2.42
100	Immunodeficiency 15a	Enrichment	IKBKB	2.42
101	Immunodeficiency 92	Enrichment	REL	2.42
102	Short syndrome	Enrichment	PIK3R1	2.42
103	Ectodermal dysplasia and immunodeficiency 1	Enrichment	IKBKG	2.42
104	Immune dysregulation, autoimmunity, and autoinflammation	Enrichment	PLCG1	2.42
105	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	2.42
106	Hemifacial myohyperplasia	Enrichment	PIK3CA	2.42
107	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	Enrichment	PIK3CA	2.42
108	Melorheostosis	Enrichment	MAP2K1	2.42
109	Leopard syndrome 2	Enrichment	RAF1	2.42
110	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	2.42
111	Cardiofaciocutaneous syndrome 4	Enrichment	MAP2K2	2.42
112	Cowden syndrome 6	Enrichment	AKT1	2.42
113	Immunodeficiency 14b, autosomal recessive	Enrichment	PIK3CD	2.42
114	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	2.42
115	Deficiency in anterior pituitary function - variable immunodeficiency syndrome	Enrichment	NFKB2	2.42
116	Immunodeficiency 53	Enrichment	RELB	2.42
117	Bartsocas-papas syndrome 2	Enrichment	CHUK	2.42
118	Trigonitis	Enrichment	RAF1	2.42
119	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	2.42
120	Hypospadias	Enrichment	PIK3CA	2.42
121	Capillary hemangioma	Enrichment	AKT3	2.42
122	Immunodeficiency 112	Enrichment	MAP3K14	2.42
123	Rare venous malformation	Enrichment	PIK3CA	2.42
124	Diaphragmatic eventration	Enrichment	PIK3CA	2.42
125	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	2.42
126	Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency	Enrichment	CHUK	2.42
127	Rare combined vascular malformation	Enrichment	PIK3CA	2.42
128	Cavernous lymphangioma	Enrichment	PIK3CA	2.42
129	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	2.42
130	Phakomatosis pigmentokeratotica	Enrichment	HRAS	2.42
131	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	2.42
132	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	2.42
133	Macrodactyly of toe	Enrichment	PIK3CA	2.42
134	Nik deficiency	Enrichment	MAP3K14	2.42
135	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	2.42
136	Barrett esophagus	Enrichment	ERBB2	2.35
137	Cystic angiomatosis of bone, diffuse	Enrichment	RASA1	2.29
138	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	Enrichment	PAK1	2.29
139	T-cell large granular lymphocyte leukemia	Enrichment	STAT3	2.29
140	Spinocerebellar ataxia 14	Enrichment	PRKCG	2.29
141	Immunodeficiency 31a	Enrichment	STAT1	2.29
142	Immunodeficiency 31b	Enrichment	STAT1	2.29
143	Autoimmune disease, multisystem, infantile-onset, 1	Enrichment	STAT3	2.29
144	Thrombocytopenia 6	Enrichment	SRC	2.29
145	Stat3-related early-onset multisystem autoimmune disease	Enrichment	STAT3	2.29
146	Gorham's disease	Enrichment	RASA1	2.29
147	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	2.29
148	Chronic lymphoproliferative disorder of natural killer cells	Enrichment	STAT3	2.29
149	Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency	Enrichment	JAK1	2.29
150	Diffuse large b-cell lymphoma	Enrichment	STAT3, TP53	2.27
151	Oculoectodermal syndrome	Enrichment	KRAS	2.23
152	Lymphoproliferative syndrome, x-linked, 2	Enrichment	XIAP	2.23
153	Caspase 8 deficiency	Enrichment	CASP8	2.23
154	Tubulointerstitial kidney disease, autosomal dominant 2	Enrichment	MUC1	2.23
155	Muscular dystrophy-dystroglycanopathy , type a, 9	Enrichment	DAG1	2.23
156	Melanosis, neurocutaneous	Enrichment	NRAS	2.23
157	Noonan syndrome 6	Enrichment	NRAS	2.23
158	46,xy sex reversal 6	Enrichment	MAP3K1	2.23
159	Accelerated tumor formation	Enrichment	MDM2	2.23
160	Ichthyosis, congenital, autosomal recessive 12	Enrichment	CASP14	2.23
161	Autoimmune lymphoproliferative syndrome, type iii	Enrichment	PRKCD	2.23
162	Intellectual developmental disorder, autosomal recessive 63	Enrichment	CAMK2A	2.23
163	Intellectual developmental disorder, autosomal dominant 54	Enrichment	CAMK2B	2.23
164	Lessel-kubisch syndrome	Enrichment	MDM2	2.23
165	Bone marrow failure syndrome 5	Enrichment	TP53	2.23
166	Papilloma of choroid plexus	Enrichment	TP53	2.23
167	Basal cell carcinoma 7	Enrichment	TP53	2.23
168	Anaplastic thyroid carcinoma	Enrichment	TP53	2.23
169	Cardiofaciocutaneous syndrome 2	Enrichment	KRAS	2.23
170	Autoimmune lymphoproliferative syndrome, type iia	Enrichment	CASP10	2.23
171	Muscular dystrophy-dystroglycanopathy , type c, 9	Enrichment	DAG1	2.23
172	Ductal carcinoma in situ	Enrichment	TP53	2.23
173	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	Enrichment	RHOA	2.23
174	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	Enrichment	RHOA	2.23
175	Intellectual developmental disorder, autosomal dominant 53	Enrichment	CAMK2A	2.23
176	Thyroid gland undifferentiated carcinoma	Enrichment	TP53	2.23
177	Intellectual developmental disorder, autosomal dominant 59	Enrichment	CAMK2G	2.23
178	Small-cell carcinoma of the ovary of hypercalcemic type	Enrichment	TP53	2.23
179	Adenoid ameloblastoma	Enrichment	CTNNB1	2.23
180	Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly	Enrichment	CASP2	2.23
181	Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype	Enrichment	TP53	2.23
182	Breast lobular carcinoma	Enrichment	CDH1	2.23
183	Congenital pulmonary airway malformation	Enrichment	KRAS	2.23
184	Choroid plexus cancer	Enrichment	TP53	2.23
185	Pleomorphic xanthoastrocytoma	Enrichment	TP53	2.23
186	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	Enrichment	DAG1	2.23
187	Neurocutaneous melanocytosis	Enrichment	NRAS	2.23
188	Microcystic stromal tumor	Enrichment	CTNNB1	2.23
189	Myeloma, multiple	Enrichment	BRAF, KRAS, PIK3R2	2.20
190	Hepatoblastoma	Enrichment	CTNNB1, TP53	2.18
191	Pallister-killian syndrome	Enrichment	ARAF	2.17
192	Deafness, autosomal recessive 26	Enrichment	GAB1	2.17
193	Lipodystrophy, congenital generalized, type 3	Enrichment	CAV1	2.17
194	Noonan syndrome 7	Enrichment	BRAF	2.17
195	Leopard syndrome 3	Enrichment	BRAF	2.17
196	Ataxia-oculomotor apraxia 3	Enrichment	PIK3R5	2.17
197	Pulmonary hypertension, primary, 3	Enrichment	CAV1	2.17
198	Noonan syndrome 11	Enrichment	MRAS	2.17
199	Lipodystrophy, familial partial, type 7	Enrichment	CAV1	2.17
200	Lymphangioma	Enrichment	BRAF	2.17
201	Phace association	Enrichment	BRAF	2.17
202	Deafness, autosomal recessive 102	Enrichment	EPS8	2.17
203	Congenital heart defects and ectodermal dysplasia	Enrichment	PRKD1	2.17
204	Immunodeficiency 129	Enrichment	RHOH	2.17
205	T-cell immunodeficiency with epidermodysplasia verruciformis	Enrichment	RHOH	2.17
206	Syringocystadenoma papilliferum	Enrichment	BRAF	2.17
207	Ganglioglioma	Enrichment	BRAF	2.17
208	Nongerminomatous germ cell tumor	Enrichment	BRAF	2.17
209	Phace syndrome	Enrichment	BRAF	2.17
210	Classic hairy cell leukemia	Enrichment	BRAF	2.17
211	Malignant epithelial tumor of salivary glands	Enrichment	PRKD1	2.17
212	Burkitt lymphoma	Enrichment	MYC	2.12
213	Fibromatosis, gingival, 1	Enrichment	SOS1	2.12
214	Costello syndrome	Enrichment	HRAS	2.12
215	Ovarian germ cell cancer	Enrichment	CBL	2.12
216	Immunodeficiency 33	Enrichment	IKBKG	2.12
217	Ectodermal dysplasia and immunodeficiency 2	Enrichment	NFKBIA	2.12
218	Keratosis, seborrheic	Enrichment	PIK3CA	2.12
219	Roifman-chitayat syndrome	Enrichment	PIK3CD	2.12
220	Noonan syndrome 8	Enrichment	PIK3CA	2.12
221	Immunodeficiency, common variable, 12, with autoimmunity	Enrichment	NFKB1	2.12
222	Immunodeficiency, common variable, 10	Enrichment	NFKB2	2.12
223	Autoinflammatory disease, familial, behcet-like 3	Enrichment	RELA	2.12
224	Rela fusion-positive ependymoma	Enrichment	RELA	2.12
225	Senior-loken syndrome 7	Enrichment	AKT3	2.12
226	Rosette-forming glioneuronal tumor	Enrichment	PIK3CA	2.12
227	Immune system disease	Enrichment	PIK3CD	2.12
228	Bardet-biedl syndrome 16	Enrichment	AKT3	2.12
229	Glucosephosphate dehydrogenase deficiency	Enrichment	IKBKG	2.12
230	Malignant germ cell tumor of ovary	Enrichment	CBL	2.12
231	Common variable immunodeficiency 12	Enrichment	NFKB1	2.12
232	Tafro syndrome	Enrichment	MAP2K2	2.12
233	Wooly hair nevus	Enrichment	HRAS	2.12
234	Glioma susceptibility 1	Enrichment	ERBB2	2.05
235	Pancreatic cancer	Enrichment	KRAS, TP53	2.04
236	Thrombocythemia 3	Enrichment	JAK2	1.99
237	Immunodeficiency 31c	Enrichment	STAT1	1.99
238	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	1.99
239	Metaphyseal anadysplasia 2	Enrichment	MMP9	1.99
240	Autoinflammation, immune dysregulation, and eosinophilia	Enrichment	JAK1	1.99
241	Polycythemia	Enrichment	JAK2	1.99
242	Metaphyseal anadysplasia	Enrichment	MMP9	1.99
243	Hypereosinophilic syndrome	Enrichment	JAK2	1.99
244	Pompe disease, infantile-onset	Enrichment	PIK3CA	1.95
245	Nuchal bleb, familial	Enrichment	SOS1	1.95
246	Nasopharyngeal carcinoma	Enrichment	NFKBIA	1.95
247	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	MYC	1.95
248	Spermatocytoma	Enrichment	HRAS	1.95
249	Keratoacanthoma	Enrichment	PIK3CA	1.95
250	Blepharocheilodontic syndrome 1	Enrichment	CDH1	1.94
251	Scoliosis, isolated 1	Enrichment	MAPK7	1.94
252	Adrenocortical carcinoma, hereditary	Enrichment	TP53	1.94
253	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	1.94
254	Cervical cancer	Enrichment	TP53	1.94
255	Encephalocraniocutaneous lipomatosis	Enrichment	KRAS	1.94
256	Lymphoma, hodgkin, classic	Enrichment	TP53	1.94
257	Cebalid syndrome	Enrichment	MTOR	1.94
258	Childhood hepatocellular carcinoma	Enrichment	CTNNB1	1.94
259	Congenital fibrosarcoma	Enrichment	TP53	1.94
260	Li-fraumeni syndrome 1	Enrichment	TP53	1.94
261	Sarcoma	Enrichment	TP53	1.94
262	Cervix carcinoma	Enrichment	TP53	1.94
263	Hodgkin's lymphoma	Enrichment	TP53	1.94
264	Smith-kingsmore syndrome	Enrichment	MTOR	1.94
265	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	1.94
266	Teratoma	Enrichment	CTNNB1	1.94
267	Pleomorphic rhabdomyosarcoma	Enrichment	TP53	1.94
268	Prostate cancer	Enrichment	CDH1, TP53	1.91
269	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Enrichment	PIK3R5	1.87
270	Noonan syndrome 12	Enrichment	RRAS2	1.87
271	Non-immune hydrops fetalis	Enrichment	HRAS, KRAS	1.86
272	Neurofibromatosis-noonan syndrome	Enrichment	MAP2K2	1.83
273	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.83
274	Immunodeficiency, common variable, 1	Enrichment	NFKB2	1.83
275	Congenital generalized lipodystrophy	Enrichment	FOS	1.83
276	Cerebrovascular disease	Enrichment	PIK3CA	1.83
277	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	CBL	1.83
278	Epidermolytic nevus	Enrichment	HRAS	1.83
279	Familial cerebral cavernous malformations	Enrichment	PIK3CA	1.83
280	Gingival fibromatosis	Enrichment	SOS1	1.83
281	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	SOS2	1.83
282	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	STAT3	1.81
283	Polycythemia vera	Enrichment	JAK2	1.81
284	Multicentric osteolysis, nodulosis, and arthropathy	Enrichment	MMP2	1.81
285	Hyper ige syndrome	Enrichment	STAT3	1.81
286	Wieacker-wolff syndrome	Enrichment	RASA1	1.81
287	Desmoid disease, hereditary	Enrichment	CTNNB1	1.76
288	Osteogenic sarcoma	Enrichment	TP53	1.76
289	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	1.76
290	Anus, imperforate	Enrichment	CTNNB1	1.76
291	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	1.76
292	Desmoid tumor	Enrichment	CTNNB1	1.76
293	Dedifferentiated liposarcoma	Enrichment	MDM2	1.76
294	Atypical teratoid rhabdoid tumor	Enrichment	TP53	1.76
295	Anaplastic astrocytoma	Enrichment	TP53	1.76
296	Squamous cell carcinoma	Enrichment	TP53	1.76
297	Adenocarcinoma	Enrichment	TP53	1.76
298	Bone osteosarcoma	Enrichment	TP53	1.76
299	Well-differentiated liposarcoma	Enrichment	MDM2	1.76
300	Anemia, congenital, nonspherocytic hemolytic, 1	Enrichment	IKBKG	1.73
301	Histiocytoid hemangioma	Enrichment	FOS	1.73
302	Aggressive systemic mastocytosis	Enrichment	CBL	1.73
303	Ataxia-telangiectasia	Enrichment	BRAF	1.70
304	Tethered spinal cord syndrome	Enrichment	BRAF	1.70
305	Erythrocytosis, familial, 1	Enrichment	JAK2	1.69
306	Budd-chiari syndrome	Enrichment	JAK2	1.69
307	Hereditary ataxia	Enrichment	PRKCG	1.69
308	Hemihyperplasia, isolated	Enrichment	PIK3CA	1.65
309	Small cell cancer of the lung	Enrichment	TP53	1.64
310	Thyroid cancer, nonmedullary, 1	Enrichment	TP53	1.64
311	Autoimmune lymphoproliferative syndrome	Enrichment	CASP10	1.64
312	Focal cortical dysplasia, type ii	Enrichment	MTOR	1.64
313	Pilomatrixoma	Enrichment	CTNNB1	1.64
314	Lymphoproliferative syndrome 2	Enrichment	XIAP	1.64
315	Alazami syndrome	Enrichment	CTNNB1	1.64
316	Embryonal rhabdomyosarcoma	Enrichment	TP53	1.64
317	Pilocytic astrocytoma	Enrichment	KRAS	1.64
318	Isolated focal cortical dysplasia type ii	Enrichment	MTOR	1.64
319	Tooth agenesis	Enrichment	TGFA	1.62
320	Megacolon	Enrichment	AKT3	1.58
321	Overgrowth syndrome	Enrichment	PIK3R1	1.58
322	Newborn respiratory distress syndrome	Enrichment	BRAF	1.58
323	Exudative vitreoretinopathy 1	Enrichment	CTNNB1	1.54
324	Rhabdomyosarcoma 2	Enrichment	TP53	1.54
325	Lymphoma	Enrichment	TP53	1.54
326	Acute megakaryocytic leukemia	Enrichment	TP53	1.54
327	Telangiectasia, hereditary hemorrhagic, type 1	Enrichment	RASA1	1.51
328	Hemangioma, capillary infantile	Enrichment	RASA1	1.51
329	Basal cell carcinoma 1	Enrichment	RASA1	1.51
330	Chronic mucocutaneous candidiasis	Enrichment	STAT1	1.51
331	Diffuse cutaneous systemic sclerosis	Enrichment	CAV1	1.48
332	Coronary heart disease 5	Enrichment	IKBKG	1.48
333	Autosomal dominant non-syndromic intellectual disability	Enrichment	CAMK2A, CAMK2B	1.47
334	Weyers acrofacial dysostosis	Enrichment	CTNNB1	1.46
335	Cleft lip with or without cleft palate	Enrichment	CDH1	1.46
336	Microcephaly	Enrichment	CAMK2B, CTNNB1, MAPK1	1.46
337	Hereditary hemorrhagic telangiectasia	Enrichment	RASA1	1.45
338	Ciliary dyskinesia, primary, 3	Enrichment	NFKB1	1.43
339	Polymicrogyria	Enrichment	AKT3	1.43
340	Wilms tumor 5	Enrichment	BRAF	1.40
341	Limited scleroderma	Enrichment	CAV1	1.40
342	Esophageal cancer	Enrichment	TP53	1.40
343	Renal cell carcinoma, papillary, 1	Enrichment	MTOR	1.40
344	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	TP53	1.40
345	Permanent neonatal diabetes mellitus	Enrichment	STAT3	1.39
346	Specific learning disability	Enrichment	MAPK1	1.39
347	Hereditary breast ovarian cancer syndrome	Enrichment	KRAS, TP53	1.39
348	Inherited cancer-predisposing syndrome	Enrichment	CDH1, EGFR, TP53	1.38
349	Inflammatory bowel disease 1	Enrichment	PRKCQ	1.34
350	Leukemia, acute lymphoblastic 3	Enrichment	JAK2	1.34
351	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	RAC1	1.34
352	Exudative vitreoretinopathy	Enrichment	CTNNB1	1.34
353	Aortic valve disease 1	Enrichment	SOS1	1.32
354	Primary hyperaldosteronism	Enrichment	TP53	1.29
355	46,xy partial gonadal dysgenesis	Enrichment	SOS1	1.29
356	Lennox-gastaut syndrome	Enrichment	MAPK10	1.28
357	Lynch syndrome	Enrichment	PIK3CA	1.26
358	Leukemia, chronic lymphocytic	Enrichment	TP53	1.25
359	Stroke, ischemic	Enrichment	PRKCH	1.25
360	Familial colorectal cancer	Enrichment	TP53	1.25
361	Cardiomyopathy, familial hypertrophic, 4	Enrichment	BRAF	1.23
362	Ventricular septal defect	Enrichment	BRAF	1.23
363	Myelodysplastic syndrome	Enrichment	TP53	1.21
364	46,xy complete gonadal dysgenesis	Enrichment	MAP3K1	1.21
365	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	ERBB4	1.21
366	Acute promyelocytic leukemia	Enrichment	STAT3	1.19
367	Melanoma	Enrichment	BRAF	1.19
368	Heart, malformation of	Enrichment	MAPK1	1.18
369	Osteoporosis	Enrichment	SRC	1.16
370	Heritable pulmonary arterial hypertension	Enrichment	CAV1	1.15
371	Chromosome 1p36 deletion syndrome	Enrichment	PRKCZ	1.14
372	Protein-deficiency anemia	Enrichment	NRAS	1.14
373	Endometrial cancer	Enrichment	PIK3CA	1.12
374	Medulloblastoma	Enrichment	CTNNB1	1.10
375	Walker-warburg syndrome	Enrichment	DAG1	1.10
376	Cleft lip/palate	Enrichment	CDH1	1.10
377	Malaria	Enrichment	IKBKG	1.08
378	Precursor t-cell acute lymphoblastic leukemia	Enrichment	MYC	1.08
379	Renal cell carcinoma, nonpapillary	Enrichment	MTOR	1.08
380	Rare genetic intellectual disability	Enrichment	MTOR	1.08
381	Cardiomyopathy, familial hypertrophic, 1	Enrichment	RAF1	1.06
382	Creatine phosphokinase, elevated serum	Enrichment	DAG1	1.05
383	Isolated elevated serum creatine phosphokinase levels	Enrichment	DAG1	1.05
384	Hydrops fetalis, nonimmune	Enrichment	HRAS	1.03
385	Polycystic liver disease	Enrichment	CTNNB1	1.02
386	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1	1.02
387	Wilms tumor 1	Enrichment	BRAF	1.02
388	Dilated cardiomyopathy	Enrichment	BRAF, RAF1	1.00
389	Melanoma, cutaneous malignant 1	Enrichment	BRAF	0.97
390	Dandy-walker syndrome	Enrichment	BRAF	0.97
391	Familial hypertrophic cardiomyopathy	Enrichment	RAF1	0.93
392	Severe combined immunodeficiency	Enrichment	IKBKB	0.93
393	Left ventricular noncompaction	Enrichment	RAF1	0.91
394	Diamond-blackfan anemia 1	Enrichment	TP53	0.90
395	Congenital nervous system abnormality	Enrichment	CAMK2B, CTNNB1	0.90
396	Nervous system disease	Enrichment	CAMK2B, CTNNB1	0.90
397	Autoinflammatory disease	Enrichment	XIAP	0.88
398	Type 2 diabetes mellitus	Enrichment	AKT2	0.83
399	Severe covid-19	Enrichment	CASP10	0.81
400	Hypertelorism	Enrichment	PIK3CA	0.75
401	Familial isolated dilated cardiomyopathy	Enrichment	RAF1	0.74
402	Dystonia	Enrichment	CAMK2B	0.73
403	Diamond-blackfan anemia	Enrichment	TP53	0.72
404	Thrombocytopenia	Enrichment	SRC	0.66
405	Primary ovarian insufficiency	Enrichment	JAK2	0.58
406	Autism spectrum disorder	Enrichment	MAP2K1	0.47
407	Autism	Enrichment	CAMK2G	0.46
408	Deafness, autosomal recessive	Enrichment	EPS8	0.46
409	Autosomal recessive nonsyndromic deafness	Enrichment	EPS8	0.46
410	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	EPS8	0.35

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

Development EGFR signaling pathway

Pathway Network for Development EGFR signaling pathway

Pathway network for the Development EGFR signaling pathway SuperPath

Member Pathways for Development EGFR signaling pathway

Pathways in the Development EGFR signaling pathway SuperPath

Gene overlap in member pathways for Development EGFR signaling pathway SuperPath

Associated Genes for Development EGFR signaling pathway

Associated Disorders for Development EGFR signaling pathway

Disorders associated with Development EGFR signaling pathway SuperPath

STRING Interaction Network for Development EGFR signaling pathway

Sources for Development EGFR signaling pathway