Constitutive Signaling by Aberrant PI3K in Cancer

Pathway network for the Constitutive Signaling by Aberrant PI3K in Cancer SuperPath

Sources:

Reactome

Pathways in the Constitutive Signaling by Aberrant PI3K in Cancer SuperPath

#	Name	Source	Genes
1	Constitutive Signaling by Aberrant PI3K in Cancer	Reactome	AREG BDNF BTC CD19 CD28 CD80 CD86 EGF EGFR EPGN ERBB2 ERBB3 ERBB4 EREG ESR1 ESR2 FGF1 FGF10 FGF16 FGF17 FGF18 FGF19 FGF2 FGF20 FGF22 FGF23 FGF3 FGF4 FGF5 FGF6 FGF7 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFR4 FLT3 FLT3LG FRS2 FYN GAB1 GAB2 GRB2 HBEGF HGF ICOS IRS1 IRS2 KIT KITLG KL KLB LCK MET NRG1 NRG2 NRG3 NRG4 NTF3 NTF4 NTRK2 NTRK3 PDGFA PDGFB PDGFRA PDGFRB PIK3AP1 PIK3CA PIK3CB PIK3CD PIK3CG PIK3R1 PIK3R2 PIK3R3 PIK3R5 PIK3R6 PTPN11 RAC1 RAC2 RHOG SRC STRN TGFA TRAT1 VAV1 (see all 86) (see less)
2	Negative regulation of the PI3K/AKT network	Reactome	AKT1 AKT2 AKT3 AREG BDNF BTC CD19 CD28 CD80 CD86 EGF EGFR EPGN ERBB2 ERBB3 ERBB4 EREG ESR1 ESR2 FGF1 FGF10 FGF16 FGF17 FGF18 FGF19 FGF2 FGF20 FGF22 FGF23 FGF3 FGF4 FGF5 FGF6 FGF7 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFR4 FLT3 FLT3LG FRS2 FYN GAB1 GAB2 GRB2 HBEGF HGF ICOS IER3 IL1RAP IL1RL1 IL33 INS INSR IRAK1 IRAK4 IRS1 IRS2 KIT KITLG KL KLB LCK MAPK1 MAPK3 MET MYD88 NRG1 NRG2 NRG3 NRG4 NTF3 NTF4 NTRK2 NTRK3 PDGFA PDGFB PDGFRA PDGFRB PHLPP1 PHLPP2 PIK3AP1 PIK3CA PIK3CB PIK3CD PIK3CG PIK3R1 PIK3R2 PIK3R3 PIK3R5 PIK3R6 PIP4K2A PIP4K2B PIP4K2C PIP5K1A PIP5K1B PIP5K1C PPP2CA PPP2CB PPP2R1A PPP2R1B PPP2R5A PPP2R5B PPP2R5C PPP2R5D PPP2R5E PTEN PTPN11 RAC1 RAC2 RHOG SRC STRN TGFA THEM4 TRAF6 TRAT1 TRIB3 VAV1 (see all 121) (see less)
3	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	Reactome	AKT1 AREG BDNF BTC CD19 CD28 CD80 CD86 EGF EGFR EPGN ERBB2 ERBB3 ERBB4 EREG ESR1 ESR2 FGF1 FGF10 FGF16 FGF17 FGF18 FGF19 FGF2 FGF20 FGF22 FGF23 FGF3 FGF4 FGF5 FGF6 FGF7 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFR4 FLT3 FLT3LG FRS2 FYN GAB1 GAB2 GRB2 HBEGF HGF ICOS IER3 IL1RAP IL1RL1 IL33 INS INSR IRAK1 IRAK4 IRS1 IRS2 KIT KITLG KL KLB LCK MAPK1 MAPK3 MET MYD88 NRG1 NRG2 NRG3 NRG4 NTF3 NTF4 NTRK2 NTRK3 PDGFA PDGFB PDGFRA PDGFRB PIK3AP1 PIK3CA PIK3CB PIK3CD PIK3CG PIK3R1 PIK3R2 PIK3R3 PIK3R5 PIK3R6 PIP4K2A PIP4K2B PIP4K2C PIP5K1A PIP5K1B PIP5K1C PPP2CA PPP2CB PPP2R1A PPP2R1B PPP2R5A PPP2R5B PPP2R5C PPP2R5D PPP2R5E PTPN11 RAC1 RAC2 RHOG SRC STRN TGFA TRAF6 TRAT1 VAV1 (see all 114) (see less)
4	PI3K/AKT Signaling in Cancer	Reactome	AKT1 AKT1S1 AKT2 AKT3 AREG BAD BDNF BTC CASP9 CD19 CD28 CD80 CD86 CDKN1A CDKN1B CHUK CREB1 EGF EGFR EPGN ERBB2 ERBB3 ERBB4 EREG ESR1 ESR2 FGF1 FGF10 FGF16 FGF17 FGF18 FGF19 FGF2 FGF20 FGF22 FGF23 FGF3 FGF4 FGF5 FGF6 FGF7 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFR4 FLT3 FLT3LG FOXO1 FOXO3 FOXO4 FRS2 FYN GAB1 GAB2 GRB2 GSK3A GSK3B HBEGF HGF ICOS IRS1 IRS2 KIT KITLG KL KLB LCK MAPKAP1 MDM2 MET MLST8 MTOR NR4A1 NRG1 NRG2 NRG3 NRG4 NTF3 NTF4 NTRK2 NTRK3 PDGFA PDGFB PDGFRA PDGFRB PDPK1 PIK3AP1 PIK3CA PIK3CB PIK3CD PIK3CG PIK3R1 PIK3R2 PIK3R3 PIK3R5 PIK3R6 PRR5 PTEN PTPN11 RAC1 RAC2 RHOG RICTOR RPS6KB2 SRC STRN TGFA TRAT1 TSC2 VAV1 (see all 112) (see less)

Gene overlap in member pathways for Constitutive Signaling by Aberrant PI3K in Cancer SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	NRG3	Neuregulin 3	Protein Coding	4
2	FRS2	Fibroblast Growth Factor Receptor Substrate 2	Protein Coding	4
3	PIK3AP1	Phosphoinositide-3-Kinase Adaptor Protein 1	Protein Coding	4
4	NRG4	Neuregulin 4	Protein Coding	4
5	PIK3R6	Phosphoinositide-3-Kinase Regulatory Subunit 6	Protein Coding	4
6	KLB	Klotho Beta	Protein Coding	4
7	HBEGF	Heparin Binding EGF Like Growth Factor	Protein Coding	4
8	EGF	Epidermal Growth Factor	Protein Coding	4
9	EGFR	Epidermal Growth Factor Receptor	Protein Coding	4
10	ERBB2	Erb-B2 Receptor Tyrosine Kinase 2	Protein Coding	4
11	ERBB3	Erb-B2 Receptor Tyrosine Kinase 3	Protein Coding	4
12	ERBB4	Erb-B2 Receptor Tyrosine Kinase 4	Protein Coding	4
13	EREG	Epiregulin	Protein Coding	4
14	ESR1	Estrogen Receptor 1	Protein Coding	4
15	ESR2	Estrogen Receptor 2	Protein Coding	4
16	FGF1	Fibroblast Growth Factor 1	Protein Coding	4
17	FGF2	Fibroblast Growth Factor 2	Protein Coding	4
18	FGF3	Fibroblast Growth Factor 3	Protein Coding	4
19	FGF4	Fibroblast Growth Factor 4	Protein Coding	4
20	FGF5	Fibroblast Growth Factor 5	Protein Coding	4
21	FGF6	Fibroblast Growth Factor 6	Protein Coding	4
22	FGF7	Fibroblast Growth Factor 7	Protein Coding	4
23	FGF8	Fibroblast Growth Factor 8	Protein Coding	4
24	FGF9	Fibroblast Growth Factor 9	Protein Coding	4
25	FGF10	Fibroblast Growth Factor 10	Protein Coding	4
26	FGFR1	Fibroblast Growth Factor Receptor 1	Protein Coding	4
27	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	4
28	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	4
29	FGFR4	Fibroblast Growth Factor Receptor 4	Protein Coding	4
30	FLT3	Fms Related Receptor Tyrosine Kinase 3	Protein Coding	4
31	FLT3LG	Fms Related Receptor Tyrosine Kinase 3 Ligand	Protein Coding	4
32	PIK3R5	Phosphoinositide-3-Kinase Regulatory Subunit 5	Protein Coding	4
33	FYN	FYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	4
34	GAB1	GRB2 Associated Binding Protein 1	Protein Coding	4
35	EPGN	Epithelial Mitogen	Protein Coding	4
36	FGF20	Fibroblast Growth Factor 20	Protein Coding	4
37	FGF22	Fibroblast Growth Factor 22	Protein Coding	4
38	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	4
39	ICOS	Inducible T Cell Costimulator	Protein Coding	4
40	HGF	Hepatocyte Growth Factor	Protein Coding	4
41	NRG1	Neuregulin 1	Protein Coding	4
42	IRS1	Insulin Receptor Substrate 1	Protein Coding	4
43	AREG	Amphiregulin	Protein Coding	4
44	KIT	KIT Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	4
45	RHOG	Ras Homolog Family Member G	Protein Coding	4
46	LCK	LCK Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	4
47	MET	MET Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	4
48	KITLG	KIT Ligand	Protein Coding	4
49	NTF3	Neurotrophin 3	Protein Coding	4
50	NTF4	Neurotrophin 4	Protein Coding	4
51	NTRK2	Neurotrophic Receptor Tyrosine Kinase 2	Protein Coding	4
52	NTRK3	Neurotrophic Receptor Tyrosine Kinase 3	Protein Coding	4
53	TRAT1	T Cell Receptor Associated Transmembrane Adaptor 1	Protein Coding	4
54	PDGFA	Platelet Derived Growth Factor Subunit A	Protein Coding	4
55	PDGFB	Platelet Derived Growth Factor Subunit B	Protein Coding	4
56	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	Protein Coding	4
57	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	4
58	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	4
59	PIK3CB	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta	Protein Coding	4
60	PIK3CD	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta	Protein Coding	4
61	PIK3CG	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Gamma	Protein Coding	4
62	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	4
63	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	4
64	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	4
65	RAC1	Rac Family Small GTPase 1	Protein Coding	4
66	RAC2	Rac Family Small GTPase 2	Protein Coding	4
67	BDNF	Brain Derived Neurotrophic Factor	Protein Coding	4
68	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	4
69	STRN	Striatin	Protein Coding	4
70	BTC	Betacellulin	Protein Coding	4
71	TGFA	Transforming Growth Factor Alpha	Protein Coding	4
72	VAV1	Vav Guanine Nucleotide Exchange Factor 1	Protein Coding	4
73	FGF23	Fibroblast Growth Factor 23	Protein Coding	4
74	PIK3R3	Phosphoinositide-3-Kinase Regulatory Subunit 3	Protein Coding	4
75	IRS2	Insulin Receptor Substrate 2	Protein Coding	4
76	FGF18	Fibroblast Growth Factor 18	Protein Coding	4
77	FGF17	Fibroblast Growth Factor 17	Protein Coding	4
78	FGF16	Fibroblast Growth Factor 16	Protein Coding	4
79	CD19	CD19 Molecule	Protein Coding	4
80	KL	Klotho	Protein Coding	4
81	CD28	CD28 Molecule	Protein Coding	4
82	CD80	CD80 Molecule	Protein Coding	4
83	CD86	CD86 Molecule	Protein Coding	4
84	NRG2	Neuregulin 2	Protein Coding	4
85	GAB2	GRB2 Associated Binding Protein 2	Protein Coding	4
86	FGF19	Fibroblast Growth Factor 19	Protein Coding	4
87	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	3
88	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	2
89	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	2
90	PIP5K1C	Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Gamma	Protein Coding	2
91	IL1RAP	Interleukin 1 Receptor Accessory Protein	Protein Coding	2
92	INS	Insulin	Protein Coding	2
93	INSR	Insulin Receptor	Protein Coding	2
94	IRAK1	Interleukin 1 Receptor Associated Kinase 1	Protein Coding	2
95	MYD88	MYD88 Innate Immune Signal Transduction Adaptor	Protein Coding	2
96	IRAK4	Interleukin 1 Receptor Associated Kinase 4	Protein Coding	2
97	PIP4K2A	Phosphatidylinositol-5-Phosphate 4-Kinase Type 2 Alpha	Protein Coding	2
98	PPP2CA	Protein Phosphatase 2 Catalytic Subunit Alpha	Protein Coding	2
99	PPP2CB	Protein Phosphatase 2 Catalytic Subunit Beta	Protein Coding	2
100	PPP2R1A	Protein Phosphatase 2 Scaffold Subunit Aalpha	Protein Coding	2
101	PPP2R1B	Protein Phosphatase 2 Scaffold Subunit Abeta	Protein Coding	2
102	PPP2R5A	Protein Phosphatase 2 Regulatory Subunit B''Alpha	Protein Coding	2
103	PPP2R5B	Protein Phosphatase 2 Regulatory Subunit B''Beta	Protein Coding	2
104	PPP2R5C	Protein Phosphatase 2 Regulatory Subunit B''Gamma	Protein Coding	2
105	PPP2R5D	Protein Phosphatase 2 Regulatory Subunit B''Delta	Protein Coding	2
106	PPP2R5E	Protein Phosphatase 2 Regulatory Subunit B''Epsilon	Protein Coding	2
107	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	2
108	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	2
109	PTEN	Phosphatase And Tensin Homolog	Protein Coding	2
110	TRAF6	TNF Receptor Associated Factor 6	Protein Coding	2
111	PIP4K2C	Phosphatidylinositol-5-Phosphate 4-Kinase Type 2 Gamma	Protein Coding	2
112	PIP5K1A	Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Alpha	Protein Coding	2
113	PIP5K1B	Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Beta	Protein Coding	2
114	PIP4K2B	Phosphatidylinositol-5-Phosphate 4-Kinase Type 2 Beta	Protein Coding	2
115	IER3	Immediate Early Response 3	Protein Coding	2
116	IL33	Interleukin 33	Protein Coding	2
117	IL1RL1	Interleukin 1 Receptor Like 1	Protein Coding	2
118	THEM4	Thioesterase Superfamily Member 4	Protein Coding	1
119	PHLPP2	PH Domain And Leucine Rich Repeat Protein Phosphatase 2	Protein Coding	1
120	PHLPP1	PH Domain And Leucine Rich Repeat Protein Phosphatase 1	Protein Coding	1
121	TRIB3	Tribbles Pseudokinase 3	Protein Coding	1
122	CDKN1A	Cyclin Dependent Kinase Inhibitor 1A	Protein Coding	1
123	CDKN1B	Cyclin Dependent Kinase Inhibitor 1B	Protein Coding	1
124	CHUK	Component Of Inhibitor Of Nuclear Factor Kappa B Kinase Complex	Protein Coding	1
125	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	1
126	FOXO1	Forkhead Box O1	Protein Coding	1
127	FOXO3	Forkhead Box O3	Protein Coding	1
128	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	1
129	RICTOR	RPTOR Independent Companion Of MTOR Complex 2	Protein Coding	1
130	GSK3A	Glycogen Synthase Kinase 3 Alpha	Protein Coding	1
131	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	1
132	NR4A1	Nuclear Receptor Subfamily 4 Group A Member 1	Protein Coding	1
133	MDM2	MDM2 Proto-Oncogene	Protein Coding	1
134	FOXO4	Forkhead Box O4	Protein Coding	1
135	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	1
136	PRR5	Proline Rich 5	Protein Coding	1
137	BAD	BCL2 Associated Agonist Of Cell Death	Protein Coding	1
138	RPS6KB2	Ribosomal Protein S6 Kinase B2	Protein Coding	1
139	MLST8	MTOR Associated Protein MLST8	Protein Coding	1
140	TSC2	TSC Complex Subunit 2	Protein Coding	1
141	MAPKAP1	MAPK Associated Protein 1	Protein Coding	1
142	CASP9	Caspase 9	Protein Coding	1
143	AKT1S1	AKT1 Substrate 1	Protein Coding	1

Disorders associated with Constitutive Signaling by Aberrant PI3K in Cancer SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Bladder cancer	Enrichment	CDKN1A, EGFR, ERBB2, ERBB3, FGFR3, PIK3CA, PTEN	8.53
2	Ovarian cancer	Enrichment	AKT1, CDKN1B, EGFR, ERBB2, KIT, MET, PDGFRA, PIK3CA, PTEN, TSC2	8.00
3	Hemimegalencephaly	Enrichment	AKT3, MTOR, PIK3CA, PTEN	7.66
4	Lacrimoauriculodentodigital syndrome 1	Enrichment	FGF10, FGFR2, FGFR3	6.61
5	Colorectal cancer	Enrichment	AKT1, ERBB2, FGFR2, FGFR3, MET, PIK3CA, PIK3R1, SRC	6.24
6	Meningioma	Enrichment	AKT1, PDGFB, PIK3CA, PTEN	5.68
7	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3, PIK3CA, PIK3R2	5.66
8	Glioma	Enrichment	FGFR2, NTRK3, PTEN	5.66
9	Primary hypereosinophilic syndrome	Enrichment	FGFR1, PDGFRA, PDGFRB	5.61
10	Testicular germ cell tumor	Enrichment	FGFR3, KIT, KITLG	5.31
11	Lung squamous cell carcinoma	Enrichment	EGFR, FGFR3, PIK3CA	5.31
12	Lung cancer	Enrichment	EGFR, ERBB2, MET, PIK3CA, PPP2R1B	5.19
13	Cowden syndrome 1	Enrichment	EGFR, PIK3CA, PTEN	4.97
14	Inherited cancer-predisposing syndrome	Enrichment	CDKN1B, EGFR, KIT, MET, PDGFRA, PTEN, PTPN11, TSC2	4.88
15	Lung non-small cell carcinoma	Enrichment	EGFR, ERBB2, PIK3CA	4.41
16	Keratosis, seborrheic	Enrichment	FGFR3, PIK3CA	4.40
17	Pfeiffer syndrome	Enrichment	FGFR1, FGFR2	4.40
18	Jackson-weiss syndrome	Enrichment	FGFR1, FGFR2	4.40
19	Rosette-forming glioneuronal tumor	Enrichment	FGFR1, PIK3CA	4.40
20	Adult hepatocellular carcinoma	Enrichment	EGF, PIK3CA, TSC2	4.35
21	Cowden syndrome	Enrichment	AKT1, PIK3CA, PTEN	4.35
22	Lip and oral cavity carcinoma	Enrichment	EGFR, KIT, PIK3CA	4.28
23	Transient predisposition to invasive pyogenic bacterial infection	Enrichment	IRAK4, MYD88	4.15
24	Lung cancer susceptibility 3	Enrichment	EGFR, ERBB2, FGF10	4.07
25	Crouzon syndrome	Enrichment	FGFR2, FGFR3	3.93
26	Tumoral calcinosis, hyperphosphatemic, familial, 1	Enrichment	FGF23, KL	3.93
27	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3CA, PIK3R1	3.93
28	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3CD, PIK3R1	3.93
29	Testicular germ cell cancer	Enrichment	FGFR3, KIT	3.93
30	Immunodeficiency 14	Enrichment	PIK3CD, PIK3R1	3.93
31	Gliosarcoma	Enrichment	EGFR, FGFR1, FGFR3	3.89
32	Giant cell glioblastoma	Enrichment	EGFR, FGFR1, FGFR3	3.80
33	Normosmic congenital hypogonadotropic hypogonadism	Enrichment	FGF17, FGF8, FGFR1	3.73
34	Hamartoma	Enrichment	FGFR3, TSC2	3.70
35	Saethre-chotzen syndrome	Enrichment	FGFR2, FGFR3	3.63
36	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Enrichment	FLT3, KIT	3.63
37	Hemifacial hyperplasia	Enrichment	FGFR2, FGFR3	3.41
38	Acute myeloid leukemia with maturation	Enrichment	FLT3, KIT	3.41
39	Holoprosencephaly	Enrichment	FGF8, FGFR1	3.41
40	Acute myeloid leukemia with t(8;21)(q22;q22) translocation	Enrichment	FLT3, KIT	3.41
41	Kallmann syndrome	Enrichment	FGF17, FGF8, FGFR1	3.40
42	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3, PIK3R2	3.40
43	Focal cortical dysplasia, type ii	Enrichment	MTOR, TSC2	3.40
44	Isolated focal cortical dysplasia type ii	Enrichment	MTOR, TSC2	3.40
45	Gastric cancer	Enrichment	ERBB2, FGFR2, PIK3CA, PTEN	3.37
46	Hereditary breast carcinoma	Enrichment	AKT1, ESR1, PIK3CA, PTEN	3.33
47	Type 2 diabetes mellitus	Enrichment	AKT2, INSR, IRS1, IRS2	3.28
48	Holoprosencephaly 1	Enrichment	FGF8, FGFR1	3.23
49	Endometrial cancer	Enrichment	FGFR2, PIK3CA, PTEN	3.18
50	Hirschsprung disease 1	Enrichment	ERBB2, ERBB3, NRG3	3.10
51	Nevus, epidermal	Enrichment	FGFR3, PIK3CA	3.09
52	Gastrointestinal stromal tumor	Enrichment	KIT, PDGFRA	3.09
53	Pilomyxoid astrocytoma	Enrichment	FGFR1, NTRK2	3.09
54	Breast adenocarcinoma	Enrichment	AKT1, PIK3CA	3.00
55	46,xy disorder of sex development	Enrichment	FGFR3, INSR	2.99
56	Basal ganglia calcification, idiopathic, 1	Enrichment	PDGFB, PDGFRB	2.96
57	Multiple endocrine neoplasia, type i	Enrichment	CDKN1A, CDKN1B	2.86
58	Squamous cell carcinoma, head and neck	Enrichment	EGFR, PTEN	2.86
59	Renal cell carcinoma, papillary, 1	Enrichment	MET, MTOR	2.86
60	Overgrowth syndrome	Enrichment	MTOR, PIK3R1	2.86
61	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3CD, PIK3R1	2.76
62	Nk-cell enteropathy	Enrichment	ERBB4, PIK3CB	2.53
63	Breast cancer	Enrichment	AKT1, ESR1, PIK3CA, PTEN	2.47
64	Meningioma, familial	Enrichment	PDGFB, PTEN	2.45
65	Specific learning disability	Enrichment	MAPK1, PTPN11	2.44
66	Hydrocephalus	Enrichment	FGFR2, PDGFRB	2.40
67	Microform holoprosencephaly	Enrichment	FGF8, FGFR1	2.35
68	Lobar holoprosencephaly	Enrichment	FGF8, FGFR1	2.35
69	Myeloma, multiple	Enrichment	FGFR3, FLT3, PIK3R2	2.27
70	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	FGF8, KLB, PTPN11	2.27
71	Semilobar holoprosencephaly	Enrichment	FGF8, FGFR1	2.24
72	Erythroleukemia, familial	Enrichment	ERBB3	2.20
73	Hypochondroplasia	Enrichment	FGFR3	2.20
74	Macrodactyly	Enrichment	PIK3CA	2.20
75	Beare-stevenson cutis gyrata syndrome	Enrichment	FGFR2	2.20
76	Paget disease, extramammary	Enrichment	ERBB2	2.20
77	Osteoglophonic dysplasia	Enrichment	FGFR1	2.20
78	Metachondromatosis	Enrichment	PTPN11	2.20
79	Thanatophoric dysplasia, type i	Enrichment	FGFR3	2.20
80	Trigonocephaly 1	Enrichment	FGFR1	2.20
81	Muenke syndrome	Enrichment	FGFR3	2.20
82	Premature aging syndrome, penttinen type	Enrichment	PDGFRB	2.20
83	Deafness, autosomal recessive 26	Enrichment	GAB1	2.20
84	Hypomagnesemia 4, renal	Enrichment	EGF	2.20
85	Hypereosinophilic syndrome, idiopathic	Enrichment	PDGFRA	2.20
86	Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis	Enrichment	RAC2	2.20
87	Deafness, autosomal recessive 39	Enrichment	HGF	2.20
88	Mastocytosis, cutaneous	Enrichment	KIT	2.20
89	Scaphocephaly, maxillary retrusion, and impaired intellectual development	Enrichment	FGFR2	2.20
90	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	2.20
91	Apert syndrome	Enrichment	FGFR2	2.20
92	Basal ganglia calcification, idiopathic, 5	Enrichment	PDGFB	2.20
93	Hyperpigmentation with or without hypopigmentation, familial progressive	Enrichment	KITLG	2.20
94	Leopard syndrome 1	Enrichment	PTPN11	2.20
95	Cowden syndrome 5	Enrichment	PIK3CA	2.20
96	Myofibromatosis, infantile, 1	Enrichment	PDGFRB	2.20
97	Thanatophoric dysplasia, type ii	Enrichment	FGFR3	2.20
98	Lethal congenital contracture syndrome 2	Enrichment	ERBB3	2.20
99	Hypogonadotropic hypogonadism 20 with or without anosmia	Enrichment	FGF17	2.20
100	Gist-plus syndrome	Enrichment	PDGFRA	2.20
101	Camptodactyly, tall stature, and hearing loss syndrome	Enrichment	FGFR3	2.20
102	Ataxia-oculomotor apraxia 3	Enrichment	PIK3R5	2.20
103	Aplasia of lacrimal and salivary glands	Enrichment	FGF10	2.20
104	Bent bone dysplasia syndrome 1	Enrichment	FGFR2	2.20
105	Cerebral cavernous malformations 4	Enrichment	PIK3CA	2.20
106	Visceral neuropathy, familial, 2, autosomal recessive	Enrichment	ERBB2	2.20
107	Developmental and epileptic encephalopathy 58	Enrichment	NTRK2	2.20
108	Tumoral calcinosis, hyperphosphatemic, familial, 3	Enrichment	KL	2.20
109	Short syndrome	Enrichment	PIK3R1	2.20
110	Osteofibrous dysplasia	Enrichment	MET	2.20
111	Myeloid and lymphoid neoplasms associated with pdgfra rearrangement	Enrichment	PDGFRA	2.20
112	Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	Enrichment	RAC2	2.20
113	Metacarpal 4-5 fusion	Enrichment	FGF16	2.20
114	Lacrimoauriculodentodigital syndrome 3	Enrichment	FGF10	2.20
115	Familial isolated trichomegaly	Enrichment	FGF5	2.20
116	Deafness, autosomal recessive 97	Enrichment	MET	2.20
117	Skin/hair/eye pigmentation, variation in, 7	Enrichment	KITLG	2.20
118	Crouzon syndrome with acanthosis nigricans	Enrichment	FGFR3	2.20
119	Hemifacial myohyperplasia	Enrichment	PIK3CA	2.20
120	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	Enrichment	PIK3CA	2.20
121	Ovarian dysgenesis 8	Enrichment	ESR2	2.20
122	Autism 9	Enrichment	MET	2.20
123	Multiple synostoses syndrome 3	Enrichment	FGF9	2.20
124	Glaucoma 1, open angle, o	Enrichment	NTF4	2.20
125	Basal ganglia calcification, idiopathic, 4	Enrichment	PDGFRB	2.20
126	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	2.20
127	Amyotrophic lateral sclerosis 19	Enrichment	ERBB4	2.20
128	Immunodeficiency 14b, autosomal recessive	Enrichment	PIK3CD	2.20
129	Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement	Enrichment	PDGFRB	2.20
130	Immunodeficiency, common variable, 3	Enrichment	CD19	2.20
131	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	2.20
132	Acute myeloid leukemia with minimal differentiation	Enrichment	FLT3	2.20
133	Immunodeficiency 97 with autoinflammation	Enrichment	PIK3CG	2.20
134	Immunodeficiency 123 with hpv-related verrucosis	Enrichment	CD28	2.20
135	Hypogonadotropic hypogonadism 6 with or without anosmia	Enrichment	FGF8	2.20
136	Obesity, hyperphagia, and developmental delay	Enrichment	NTRK2	2.20
137	Achondroplasia, severe, with developmental delay and acanthosis nigricans	Enrichment	FGFR3	2.20
138	Kosaki overgrowth syndrome	Enrichment	PDGFRB	2.20
139	Tumoral calcinosis, hyperphosphatemic, familial, 2	Enrichment	FGF23	2.20
140	Hartsfield syndrome	Enrichment	FGFR1	2.20
141	Renal hypodysplasia/aplasia 2	Enrichment	FGF20	2.20
142	Immunodeficiency 22	Enrichment	LCK	2.20
143	Thrombocytopenia 6	Enrichment	SRC	2.20
144	Ocular pterygium-digital keloid dysplasia syndrome	Enrichment	PDGFRB	2.20
145	Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	Enrichment	RAC2	2.20
146	Chronic mast cell leukemia	Enrichment	KIT	2.20
147	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	2.20
148	Deafness, autosomal dominant 69	Enrichment	KITLG	2.20
149	Arthrogryposis, distal, type 11	Enrichment	MET	2.20
150	Lacrimoauriculodentodigital syndrome 2	Enrichment	FGFR3	2.20
151	Immunodeficiency 125	Enrichment	FLT3LG	2.20
152	Short-rib thoracic dysplasia 22 without polydactyly	Enrichment	FGF4	2.20
153	Hypospadias	Enrichment	PIK3CA	2.20
154	Isolated bone marrow mastocytosis	Enrichment	KIT	2.20
155	Smoldering systemic mastocytosis	Enrichment	KIT	2.20
156	Rare venous malformation	Enrichment	PIK3CA	2.20
157	Diaphragmatic eventration	Enrichment	PIK3CA	2.20
158	Infantile lad-like disease due to rac2 deficiency	Enrichment	RAC2	2.20
159	Fgfr3-related chondrodysplasia	Enrichment	FGFR3	2.20
160	Reticular dysgenesis-like severe combined immunodeficiency	Enrichment	RAC2	2.20
161	Mastocytosis	Enrichment	KIT	2.20
162	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	2.20
163	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	Enrichment	FGFR3	2.20
164	Familial progressive hyperpigmentation	Enrichment	KITLG	2.20
165	Rare combined vascular malformation	Enrichment	PIK3CA	2.20
166	Cavernous lymphangioma	Enrichment	PIK3CA	2.20
167	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	2.20
168	Cutaneous mastocytoma	Enrichment	KIT	2.20
169	Typical urticaria pigmentosa	Enrichment	KIT	2.20
170	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	2.20
171	Nodular urticaria pigmentosa	Enrichment	KIT	2.20
172	Hartsfield-bixler-demyer syndrome	Enrichment	FGFR1	2.20
173	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	2.20
174	Pseudoxanthomatous diffuse cutaneous mastocytosis	Enrichment	KIT	2.20
175	Telangiectasia macularis eruptiva perstans	Enrichment	KIT	2.20
176	Acute mast cell leukemia	Enrichment	KIT	2.20
177	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	2.20
178	Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome	Enrichment	RAC2	2.20
179	Egf-related primary hypomagnesemia with intellectual disability	Enrichment	EGF	2.20
180	Non-syndromic unicoronal craniosynostosis	Enrichment	FGFR2	2.20
181	Familial progressive hyper- and hypopigmentation	Enrichment	KITLG	2.20
182	Plaque-form urticaria pigmentosa	Enrichment	KIT	2.20
183	Interstitial lung disease specific to childhood	Enrichment	FGF10	2.20
184	Macrodactyly of toe	Enrichment	PIK3CA	2.20
185	Serous carcinoma of the corpus uteri	Enrichment	ERBB2	2.20
186	Bullous diffuse cutaneous mastocytosis	Enrichment	KIT	2.20
187	Malignant astrocytoma	Enrichment	PTPN11	2.20
188	Testis seminoma	Enrichment	KIT	2.20
189	Renal cell carcinoma, nonpapillary	Enrichment	MET, MTOR	2.18
190	Craniosynostosis	Enrichment	FGFR2, FGFR3	2.15
191	Proteus syndrome	Enrichment	AKT1	2.08
192	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	2.08
193	Vacterl association with hydrocephalus	Enrichment	PTEN	2.08
194	Fetal encasement syndrome	Enrichment	CHUK	2.08
195	Accelerated tumor formation	Enrichment	MDM2	2.08
196	Lessel-kubisch syndrome	Enrichment	MDM2	2.08
197	Papillary tumor of the pineal region	Enrichment	PTEN	2.08
198	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	2.08
199	Neuroendocrine tumor	Enrichment	CDKN1B	2.08
200	Cowden syndrome 6	Enrichment	AKT1	2.08
201	Glioma susceptibility 2	Enrichment	PTEN	2.08
202	Bartsocas-papas syndrome 2	Enrichment	CHUK	2.08
203	Capillary hemangioma	Enrichment	AKT3	2.08
204	Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency	Enrichment	CHUK	2.08
205	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Enrichment	PTEN	2.08
206	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	2.08
207	Donohue syndrome	Enrichment	INSR	2.08
208	Hyperinsulinemic hypoglycemia, familial, 5	Enrichment	INSR	2.08
209	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	Enrichment	INSR	2.08
210	Immunodeficiency 68	Enrichment	MYD88	2.08
211	Diabetes mellitus, insulin-resistant, with acanthosis nigricans	Enrichment	INSR	2.08
212	Macroglobulinemia, waldenstrom 1	Enrichment	MYD88	2.08
213	Noonan syndrome 13	Enrichment	MAPK1	2.08
214	Houge-janssens syndrome 4	Enrichment	PPP2R5C	2.08
215	Houge-janssens syndrome 2	Enrichment	PPP2R1A	2.08
216	Immunodeficiency 67	Enrichment	IRAK4	2.08
217	Waldenstram macroglobulinemia	Enrichment	MYD88	2.08
218	Ppp2r1a-related neurodevelopmental disorder	Enrichment	PPP2R1A	2.08
219	Hepatocellular carcinoma	Enrichment	MET, PIK3CA	2.07
220	Tooth agenesis	Enrichment	FGFR1, TGFA	2.07
221	Diffuse large b-cell lymphoma	Enrichment	FOXO1, PTEN	1.98
222	Myeloproliferative disorder, chronic, with eosinophilia	Enrichment	PDGFRB	1.90
223	Otodental dysplasia	Enrichment	FGF3	1.90
224	Trichomegaly	Enrichment	FGF5	1.90
225	Visceral neuropathy, familial, 1, autosomal recessive	Enrichment	ERBB3	1.90
226	Pulmonary hypoplasia, primary	Enrichment	FGF10	1.90
227	Dermatofibrosarcoma protuberans	Enrichment	PDGFB	1.90
228	Cervical cancer	Enrichment	FGFR3	1.90
229	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Enrichment	PIK3R5	1.90
230	Piebald trait	Enrichment	KIT	1.90
231	Aural atresia, congenital	Enrichment	FGFR2	1.90
232	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	Enrichment	FGF3	1.90
233	Encephalocraniocutaneous lipomatosis	Enrichment	FGFR1	1.90
234	Roifman-chitayat syndrome	Enrichment	PIK3CD	1.90
235	Noonan syndrome 8	Enrichment	PIK3CA	1.90
236	Antley-bixler syndrome without genital anomalies or disordered steroidogenesis	Enrichment	FGFR2	1.90
237	Waardenburg syndrome, type 2f	Enrichment	KITLG	1.90
238	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	1.90
239	Werner syndrome	Enrichment	PTPN11	1.90
240	Infantile myofibromatosis	Enrichment	PDGFRB	1.90
241	Childhood hepatocellular carcinoma	Enrichment	MET	1.90
242	Split hand-foot malformation	Enrichment	FGFR2	1.90
243	Papillary renal cell carcinoma	Enrichment	MET	1.90
244	Congenital mesoblastic nephroma	Enrichment	NTRK3	1.90
245	Cervix carcinoma	Enrichment	FGFR3	1.90
246	Immune system disease	Enrichment	PIK3CD	1.90
247	Fibrosarcoma	Enrichment	NTRK3	1.90
248	Acute myeloid leukemia without maturation	Enrichment	FLT3	1.90
249	Interfrontal craniofaciosynostosis	Enrichment	FGFR1	1.90
250	Common variable immunodeficiency phenotype due to cd19/cd81 deficiency	Enrichment	CD19	1.90
251	Autosomal dominant nonsyndromic deafness	Enrichment	FGFR2	1.90
252	Chronic eosinophilic leukemia	Enrichment	PDGFRA	1.90
253	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality	Enrichment	PDGFRA	1.90
254	Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)	Enrichment	FLT3	1.90
255	B-lymphoblastic leukemia/lymphoma with t	Enrichment	KIT	1.90
256	Oculootodental syndrome	Enrichment	FGF3	1.90
257	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	1.78
258	Lymphangioleiomyomatosis	Enrichment	TSC2	1.78
259	Multiple endocrine neoplasia, type iv	Enrichment	CDKN1B	1.78
260	Cebalid syndrome	Enrichment	MTOR	1.78
261	Senior-loken syndrome 7	Enrichment	AKT3	1.78
262	Bardet-biedl syndrome 16	Enrichment	AKT3	1.78
263	Smith-kingsmore syndrome	Enrichment	MTOR	1.78
264	Vacterl with hydrocephalus	Enrichment	PTEN	1.78
265	Juvenile polyposis of infancy	Enrichment	PTEN	1.78
266	Immunodeficiency 33	Enrichment	IRAK4	1.78
267	Lethal congenital contracture syndrome 3	Enrichment	PIP5K1C	1.78
268	Hyperinsulinemic hypoglycemia, familial, 4	Enrichment	INSR	1.78
269	Neutrophilia, hereditary	Enrichment	PIP4K2B	1.78
270	Maturity-onset diabetes of the young, type 10	Enrichment	INS	1.78
271	Neutropenia, severe congenital, 7, autosomal recessive	Enrichment	PIP4K2B	1.78
272	Houge-janssens syndrome 1	Enrichment	PPP2R5D	1.78
273	Hyperproinsulinemia	Enrichment	INS	1.78
274	Severe congenital neutropenia 7	Enrichment	PIP4K2B	1.78
275	Congenital dyserythropoietic anemia	Enrichment	IRAK4	1.78
276	Diabetes mellitus, permanent neonatal, 4	Enrichment	INS	1.78
277	Intellectual developmental disorder, autosomal dominant 60, with seizures	Enrichment	PIP5K1A	1.78
278	B-lymphoblastic leukemia/lymphoma with hyperdiploidy	Enrichment	PIP4K2A	1.78
279	Houge-janssens syndrome 3	Enrichment	PPP2CA	1.78
280	Achondroplasia	Enrichment	FGFR3	1.72
281	Hypogonadotropic hypogonadism 2 with or without anosmia	Enrichment	FGFR1	1.72
282	Larsen syndrome	Enrichment	FGFR3	1.72
283	Thyroid carcinoma, familial medullary	Enrichment	ESR2	1.72
284	Hypophosphatemic rickets, autosomal dominant	Enrichment	FGF23	1.72
285	Pompe disease, infantile-onset	Enrichment	PIK3CA	1.72
286	Mycosis fungoides	Enrichment	CD28	1.72
287	Estrogen resistance	Enrichment	ESR1	1.72
288	Chromosome 8p11 myeloproliferative syndrome	Enrichment	FGFR1	1.72
289	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	1.72
290	Migraine without aura	Enrichment	ESR1	1.72
291	Spermatocytoma	Enrichment	FGFR3	1.72
292	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	1.72
293	Tricuspid valve insufficiency	Enrichment	PTPN11	1.72
294	Mixed phenotype acute leukemia with t	Enrichment	FLT3	1.72
295	Renal cell carcinoma	Enrichment	MET	1.72
296	Testicular cancer	Enrichment	FGFR3	1.72
297	Keratoacanthoma	Enrichment	PIK3CA	1.72
298	Saczary syndrome	Enrichment	CD28	1.72
299	Prostate cancer	Enrichment	PIK3CA, PTEN	1.62
300	Tuberous sclerosis 1	Enrichment	TSC2	1.61
301	Polycystic kidney disease, infantile severe, with tuberous sclerosis	Enrichment	TSC2	1.61
302	Tuberous sclerosis 2	Enrichment	TSC2	1.61
303	Dedifferentiated liposarcoma	Enrichment	MDM2	1.61
304	Xanthinuria, type ii	Enrichment	TSC2	1.61
305	Laryngeal squamous cell carcinoma	Enrichment	PTEN	1.61
306	Melanoma of soft tissue	Enrichment	CREB1	1.61
307	Well-differentiated liposarcoma	Enrichment	MDM2	1.61
308	Type 1 diabetes mellitus 2	Enrichment	INS	1.60
309	Immunodeficiency, common variable, 1	Enrichment	ICOS	1.60
310	Barrett esophagus	Enrichment	ERBB2	1.60
311	Arthrogryposis multiplex congenita 3, myogenic type	Enrichment	ESR1	1.60
312	Multiple synostoses syndrome	Enrichment	FGF9	1.60
313	Chronic myelomonocytic leukemia	Enrichment	FLT3	1.60
314	Cerebrovascular disease	Enrichment	PIK3CA	1.60
315	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	PTPN11	1.60
316	Noonan syndrome with multiple lentigines	Enrichment	PTPN11	1.60
317	Familial cerebral cavernous malformations	Enrichment	PIK3CA	1.60
318	Non-syndromic bicoronal craniosynostosis	Enrichment	FGFR3	1.60
319	Systemic mastocytosis with associated hematologic neoplasm	Enrichment	KIT	1.60
320	Leukemia, acute myeloid	Enrichment	FLT3, KIT	1.58
321	Capillary malformations, congenital	Enrichment	PIK3CA	1.50
322	Lymphoma	Enrichment	PTPN11	1.50
323	Tuberous sclerosis	Enrichment	TSC2	1.49
324	Primary hyperparathyroidism	Enrichment	CDKN1B	1.49
325	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.48
326	Neonatal diabetes mellitus	Enrichment	INS	1.48
327	Pediatric systemic lupus erythematosus	Enrichment	IRAK1	1.48
328	Thrombocytopenia	Enrichment	PTPN11, SRC	1.43
329	Klippel-trenaunay-weber syndrome	Enrichment	PIK3CA	1.43
330	Split-hand/foot malformation 1	Enrichment	FGFR2	1.43
331	Hemihyperplasia, isolated	Enrichment	PIK3CA	1.43
332	Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome	Enrichment	BDNF	1.43
333	Patent ductus arteriosus	Enrichment	PTPN11	1.43
334	Rhabdomyosarcoma 2	Enrichment	FOXO1	1.39
335	Macrocephaly/autism syndrome	Enrichment	PTEN	1.39
336	Hemangioma	Enrichment	PTEN	1.39
337	Acute megakaryocytic leukemia	Enrichment	PTEN	1.39
338	Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant	Enrichment	TRAF6	1.38
339	Hypertelorism	Enrichment	FGFR2, PIK3CA	1.37
340	Myelofibrosis	Enrichment	SRC	1.36
341	Waardenburg syndrome, type 2e	Enrichment	KITLG	1.36
342	Capillary malformation-arteriovenous malformation 1	Enrichment	PIK3CA	1.36
343	Noonan syndrome 3	Enrichment	PTPN11	1.36
344	Gallbladder cancer	Enrichment	PIK3CA	1.36
345	Hypophosphatemic rickets	Enrichment	FGF23	1.36
346	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	FLT3	1.36
347	Li-fraumeni syndrome	Enrichment	MDM2	1.31
348	Type 1 diabetes mellitus	Enrichment	INS	1.31
349	Arthrogryposis, distal, type 1a	Enrichment	MET	1.30
350	Glioma susceptibility 1	Enrichment	ERBB2	1.30
351	West syndrome	Enrichment	NTRK2, TSC2	1.29
352	Orofacial cleft 1	Enrichment	FGF10	1.25
353	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	RAC1	1.25
354	Arteriovenous malformation	Enrichment	PIK3CA	1.25
355	Atypical chronic myeloid leukemia, bcr-abl1 negative	Enrichment	FLT3	1.25
356	Hypogonadotropic hypogonadism	Enrichment	FGFR1	1.25
357	Congenital central hypoventilation syndrome	Enrichment	BDNF	1.25
358	Renal agenesis, bilateral	Enrichment	FGF20	1.25
359	Polycystic kidney disease 1 with or without polycystic liver disease	Enrichment	TSC2	1.25
360	Thyroid cancer, nonmedullary, 2	Enrichment	PTEN	1.25
361	Polycystic kidney disease 1	Enrichment	TSC2	1.25
362	Megacolon	Enrichment	AKT3	1.25
363	Follicular thyroid carcinoma	Enrichment	PTEN	1.25
364	Congenital nervous system abnormality	Enrichment	FGFR3, PTEN, TSC2	1.24
365	Nervous system disease	Enrichment	FGFR3, PTEN, TSC2	1.24
366	Autism spectrum disorder	Enrichment	PTEN, PTPN11, TSC2	1.21
367	Meier-gorlin syndrome 1	Enrichment	FGFR2	1.21
368	Myopathy, x-linked, with excessive autophagy	Enrichment	PIK3CA	1.21
369	Primary bone dysplasia	Enrichment	FGFR3	1.21
370	Permanent neonatal diabetes mellitus	Enrichment	INS	1.19
371	Migraine with or without aura 1	Enrichment	ESR1	1.17
372	Pectus excavatum	Enrichment	PTPN11	1.17
373	Leukemia, acute lymphoblastic	Enrichment	FLT3	1.17
374	Osteochondrodysplasia	Enrichment	FGFR3	1.17
375	Epicanthus	Enrichment	PTPN11	1.13
376	Septooptic dysplasia	Enrichment	FGFR1	1.13
377	Juvenile myelomonocytic leukemia	Enrichment	PTPN11	1.13
378	Renal hypodysplasia/aplasia 3	Enrichment	FGFR3	1.13
379	Congenital long qt syndrome	Enrichment	PTPN11	1.13
380	Polymicrogyria	Enrichment	AKT3	1.10
381	Melanoma	Enrichment	PTEN	1.10
382	Hypogonadotropic hypogonadism 7 with or without anosmia	Enrichment	FGFR1	1.07
383	Osteoporosis	Enrichment	SRC	1.07
384	Cleft lip/palate	Enrichment	PDGFRA	1.07
385	Uterine corpus cancer	Enrichment	PTEN	1.06
386	Diabetes mellitus	Enrichment	INS	1.05
387	Lynch syndrome	Enrichment	PIK3CA	1.04
388	Septopreoptic holoprosencephaly	Enrichment	FGF8	1.04
389	Midline interhemispheric variant of holoprosencephaly	Enrichment	FGF8	1.04
390	Noonan syndrome and noonan-related syndrome	Enrichment	PTPN11	1.04
391	Dandy-walker syndrome	Enrichment	PDGFRB	0.99
392	Alobar holoprosencephaly	Enrichment	FGF8	0.99
393	Patent foramen ovale	Enrichment	PTPN11	0.97
394	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	HGF, MET	0.96
395	Arteriovenous malformations of the brain	Enrichment	EGFR	0.94
396	Autosomal dominant polycystic kidney disease	Enrichment	TSC2	0.93
397	Rare genetic intellectual disability	Enrichment	MTOR	0.93
398	Rhabdomyosarcoma	Enrichment	PTEN	0.91
399	Hepatoblastoma	Enrichment	FGFR3	0.90
400	Myocardial infarction	Enrichment	ESR1	0.88
401	Noonan syndrome 1	Enrichment	PTPN11	0.87
402	Precursor t-cell acute lymphoblastic leukemia	Enrichment	FLT3	0.87
403	Heart, malformation of	Enrichment	MAPK1	0.85
404	Scoliosis	Enrichment	PTPN11	0.85
405	Hydrops fetalis, nonimmune	Enrichment	PTPN11	0.82
406	Rasopathy	Enrichment	PTPN11	0.82
407	Maturity-onset diabetes of the young	Enrichment	INS	0.81
408	Strabismus	Enrichment	PTPN11	0.80
409	Differentiated thyroid carcinoma	Enrichment	NTRK3	0.77
410	Long qt syndrome 1	Enrichment	PTPN11	0.76
411	Non-immune hydrops fetalis	Enrichment	PTPN11	0.75
412	Connective tissue disease	Enrichment	FGFR3	0.73
413	Severe combined immunodeficiency	Enrichment	LCK	0.72
414	Cerebral palsy	Enrichment	PDGFRB	0.66
415	Hypertrophic cardiomyopathy	Enrichment	PTPN11	0.62
416	Sensorineural hearing loss	Enrichment	HGF	0.58
417	Body mass index quantitative trait locus 11	Enrichment	BDNF	0.56
418	Autosomal dominant non-syndromic intellectual disability	Enrichment	ERBB4	0.56
419	Microcephaly	Enrichment	MAPK1, PTPN11	0.56
420	Systemic lupus erythematosus	Enrichment	IRAK1	0.55
421	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	KITLG	0.55
422	Undetermined early-onset epileptic encephalopathy	Enrichment	NTRK2	0.52
423	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	ERBB4	0.51
424	Hereditary breast ovarian cancer syndrome	Enrichment	PTEN	0.44
425	Primary ovarian insufficiency	Enrichment	RICTOR	0.41
426	Complex neurodevelopmental disorder	Enrichment	PPP2CA	0.19

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

Constitutive Signaling by Aberrant PI3K in Cancer

Pathway Network for Constitutive Signaling by Aberrant PI3K in Cancer

Pathway network for the Constitutive Signaling by Aberrant PI3K in Cancer SuperPath

Member Pathways for Constitutive Signaling by Aberrant PI3K in Cancer

Pathways in the Constitutive Signaling by Aberrant PI3K in Cancer SuperPath

Gene overlap in member pathways for Constitutive Signaling by Aberrant PI3K in Cancer SuperPath

Associated Genes for Constitutive Signaling by Aberrant PI3K in Cancer

Associated Disorders for Constitutive Signaling by Aberrant PI3K in Cancer

Disorders associated with Constitutive Signaling by Aberrant PI3K in Cancer SuperPath

STRING Interaction Network for Constitutive Signaling by Aberrant PI3K in Cancer

Sources for Constitutive Signaling by Aberrant PI3K in Cancer