PI3K-Akt signaling pathway

No Pathway Network information available for PI3K-Akt signaling pathway

Pathways in the PI3K-Akt signaling pathway SuperPath

#	Name	Source	Genes
1	PI3K-Akt signaling pathway	WikiPathways	ADAMTSL4-AS1 AKT1 AKT2 AKT3 ANGPT1 ANGPT2 ANGPT4 ATF2 ATF4 ATF6B BAD BCL2 BCL2L1 BCL2L11 BDNF BRCA1 CASP9 CCND1 CCND2 CCND3 CCNE1 CCNE2 CD19 CDC37 CDK2 CDK4 CDK6 CDKN1A CDKN1B CHAD CHRM1 CHRM2 CHUK COL1A1 COL1A2 COL2A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 COL6A1 COL6A2 COL6A3 COL6A5 COL6A6 COL9A1 COL9A2 COL9A3 COMP CREB1 CREB3 CREB3L1 CREB3L2 CREB3L3 CREB3L4 CREB5 CSF1 CSF1R CSF3 CSF3R CSH1 CSH2 DDIT4 EFNA1 EFNA2 EFNA3 EFNA4 EFNA5 EGF EGFR EIF4B EIF4E EIF4E1B EIF4E2 EIF4EBP1 EPHA2 EPO EPOR F2R FASLG FGF1 FGF10 FGF11 FGF12 FGF13 FGF14 FGF17 FGF18 FGF19 FGF2 FGF20 FGF21 FGF22 FGF23 FGF3 FGF4 FGF5 FGF6 FGF7 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFR4 FLT1 FLT3 FLT3LG FLT4 FN1 FOXO3 G6PC1 G6PC2 G6PC3 GH1 GH2 GHR GNB1 GNB2 GNB3 GNB4 GNB5 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 GRB2 GSK3B GYS1 GYS2 HGF HRAS HSP90AA1 HSP90AB1 HSP90B1 IBSP IFNA1 IFNA10 IFNA13 IFNA14 IFNA16 IFNA17 IFNA2 IFNA21 IFNA4 IFNA5 IFNA6 IFNA7 IFNA8 IFNAR1 IFNAR2 IFNB1 IGF1 IGF1R IGF2 IKBKB IKBKG IL2 IL2RA IL2RB IL2RG IL3 IL3RA IL4 IL4R IL6 IL6R IL7 IL7R INS INSR IRS1 ITGA1 ITGA10 ITGA11 ITGA2 ITGA2B ITGA3 ITGA4 ITGA5 ITGA6 ITGA7 ITGA8 ITGA9 ITGAV ITGB1 ITGB3 ITGB4 ITGB5 ITGB6 ITGB7 ITGB8 JAK1 JAK2 JAK3 KDR KIT KITLG KRAS LAMA1 LAMA2 LAMA3 LAMA4 LAMA5 LAMB1 LAMB2 LAMB3 LAMB4 LAMC1 LAMC2 LAMC3 LOC102723407 LPAR1 LPAR2 LPAR3 LPAR4 LPAR5 LPAR6 MAP2K1 MAP2K2 MAPK1 MAPK3 MDM2 MET MLST8 MTOR MYB MYC NFKB1 NGF NGFR NOS3 NRAS NTF3 NTF4 NTRK1 NTRK2 OSM OSMR PCK1 PCK2 PDGFA PDGFB PDGFC PDGFD PDGFRA PDGFRB PDPK1 PGF PHLPP1 PHLPP2 PIK3AP1 PIK3CA PIK3CB PIK3CD PIK3CG PIK3R1 PIK3R2 PIK3R3 PIK3R5 PIK3R6 PKN1 PKN2 PKN3 PPP2CA PPP2CB PPP2R1A PPP2R1B PPP2R2A PPP2R2B PPP2R2C PPP2R2D PPP2R3A PPP2R3B PPP2R3C PPP2R5A PPP2R5B PPP2R5C PPP2R5D PPP2R5E PRKAA1 PRKAA2 PRKCA PRL PRLR PTEN PTK2 RAC1 RAF1 RBL2 RELA RELN RHEB RPS6 RPS6KB1 RPS6KB2 RPTOR SGK1 SGK2 SGK3 SOS1 SOS2 SPP1 STK11 SYK TCL1A TCL1B TEK TGFA THBS1 THBS2 THBS3 THBS4 THEM4 TLR2 TLR4 TNC TNN TNR TNXB TP53 TSC1 TSC2 VEGFA VEGFB VEGFC VEGFD VTN VWF (see all 339) (see less)
2	Focal adhesion: PI3K-Akt-mTOR-signaling pathway	WikiPathways	ACACA AKT1 AKT1S1 AKT2 AKT3 ANGPT1 ANGPT2 ANGPT4 ATF2 ATF4 ATF6B BAD CAB39 CAB39L CASP9 CDC37 CDKN1A CDKN1B CHAD CHRM1 CHRM2 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COL3A1 COL4A1 COL4A2 COL4A4 COL4A6 COL5A1 COL5A2 COL5A3 COL6A2 COMP CREB1 CREB3 CREB3L1 CREB3L2 CREB3L3 CREB3L4 CREB5 CRTC2 CSF1 CSF1R CSF3 CSF3R CSH1 DDIT4 EFNA1 EFNA2 EFNA3 EFNA4 EFNA5 EGF EGFR EIF4B EIF4E EIF4E1B EIF4E2 EIF4EBP1 ELAVL1 EPAS1 EPHA2 EPO EPOR F2R FGF1 FGF10 FGF11 FGF12 FGF13 FGF14 FGF16 FGF17 FGF18 FGF19 FGF2 FGF20 FGF21 FGF22 FGF3 FGF4 FGF6 FGF7 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFR4 FLT1 FLT4 FN1 FOXA1 FOXO1 FOXO3 GHR GNB1 GNB2 GNB3 GNB4 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 GRB2 GSK3B GYS1 GYS2 HGF HIF1A HIF3A HRAS HSP90AA1 HSP90AB1 HSP90B1 IBSP IFNA7 IFNAR1 IFNAR2 IFNB1 IGF1 IGF1R IKBKB IKBKG IL2 IL2RA IL2RB IL2RG IL3RA IL4R IL6R IL7R INS INSR IRS1 IRS2 IRS4 ITGA10 ITGA11 ITGA2 ITGA2B ITGA3 ITGA4 ITGA5 ITGA6 ITGA7 ITGA8 ITGA9 ITGAD ITGAE ITGAL ITGAV ITGAX ITGB1 ITGB2 ITGB3 ITGB4 ITGB5 ITGB6 ITGB7 ITGB8 JAK1 JAK2 JAK3 KDR KIT KITLG KRAS LAMA1 LAMA2 LAMA3 LAMA4 LAMA5 LAMB1 LAMB2 LAMB3 LAMC1 LAMC2 LAMC3 LIPE LPAR1 LPAR2 LPAR3 LPAR4 LPAR5 LPAR6 MAP2K1 MAP2K2 MAPK1 MAPK3 MDM2 MET MLST8 MTOR NGF NGFR NOS1 NOS2 NOS3 NRAS OSM OSMR PDGFA PDGFB PDGFC PDGFD PDGFRA PDGFRB PDPK1 PELO PFKFB1 PFKFB2 PFKFB3 PFKFB4 PGF PHLPP1 PHLPP2 PIK3C2A PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PIK3IP1 PIK3R1 PIK3R2 PIK3R4 PIK3R5 PPARGC1A PPP2CA PPP2CB PPP2R1A PPP2R1B PPP2R2B PPP2R2C PPP2R2D PPP2R3A PPP2R3C PPP2R5A PPP2R5B PPP2R5C PPP2R5D PPP2R5E PRKAA1 PRKAA2 PRL PRLR PTEN PTK2 RAB10 RAB11B RAB14 RAB2A RAB8A RAF1 RELN RHEB RPS6 RPS6KB1 RPS6KB2 RPTOR SLC2A1 SLC2A2 SLC2A3 SLC2A4 SOS1 SPP1 SREBF1 STK11 STRADA TBC1D1 TCL1A TCL1B TEK THBS1 THBS2 THBS3 THBS4 TNC TNN TNR TNXB TSC1 TSC2 ULK1 VEGFA VEGFB VEGFC VEGFD VTN VWF (see all 302) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	EFNA2	Ephrin A2	Protein Coding	2
2	FGF19	Fibroblast Growth Factor 19	Protein Coding	2
3	TCL1B	TCL1 Family AKT Coactivator B	Protein Coding	2
4	CREB5	CAMP Responsive Element Binding Protein 5	Protein Coding	2
5	GNG8	G Protein Subunit Gamma 8	Protein Coding	2
6	OSMR	Oncostatin M Receptor	Protein Coding	2
7	FGF17	Fibroblast Growth Factor 17	Protein Coding	2
8	FGF18	Fibroblast Growth Factor 18	Protein Coding	2
9	IKBKG	Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma	Protein Coding	2
10	ITGA8	Integrin Subunit Alpha 8	Protein Coding	2
11	CASP9	Caspase 9	Protein Coding	2
12	PDGFD	Platelet Derived Growth Factor D	Protein Coding	2
13	VWF	Von Willebrand Factor	Protein Coding	2
14	VTN	Vitronectin	Protein Coding	2
15	VEGFC	Vascular Endothelial Growth Factor C	Protein Coding	2
16	VEGFB	Vascular Endothelial Growth Factor B	Protein Coding	2
17	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	2
18	TSC2	TSC Complex Subunit 2	Protein Coding	2
19	TSC1	TSC Complex Subunit 1	Protein Coding	2
20	HSP90B1	Heat Shock Protein 90 Beta Family Member 1	Protein Coding	2
21	TNXB	Tenascin XB	Protein Coding	2
22	TNR	Tenascin R	Protein Coding	2
23	THBS2	Thrombospondin 2	Protein Coding	2
24	THBS1	Thrombospondin 1	Protein Coding	2
25	TEK	TEK Receptor Tyrosine Kinase	Protein Coding	2
26	STK11	Serine/Threonine Kinase 11	Protein Coding	2
27	SPP1	Secreted Phosphoprotein 1	Protein Coding	2
28	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	2
29	RPS6KB2	Ribosomal Protein S6 Kinase B2	Protein Coding	2
30	RPS6KB1	Ribosomal Protein S6 Kinase B1	Protein Coding	2
31	RPS6	Ribosomal Protein S6	Protein Coding	2
32	RHEB	Ras Homolog, MTORC1 Binding	Protein Coding	2
33	GNB4	G Protein Subunit Beta 4	Protein Coding	2
34	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	2
35	RPTOR	Regulatory Associated Protein Of MTOR Complex 1	Protein Coding	2
36	PTK2	Protein Tyrosine Kinase 2	Protein Coding	2
37	PTEN	Phosphatase And Tensin Homolog	Protein Coding	2
38	BAD	BCL2 Associated Agonist Of Cell Death	Protein Coding	2
39	RELN	Reelin	Protein Coding	2
40	PRLR	Prolactin Receptor	Protein Coding	2
41	PRL	Prolactin	Protein Coding	2
42	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	2
43	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	2
44	PDGFC	Platelet Derived Growth Factor C	Protein Coding	2
45	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	2
46	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	2
47	PRKAA2	Protein Kinase AMP-Activated Catalytic Subunit Alpha 2	Protein Coding	2
48	PRKAA1	Protein Kinase AMP-Activated Catalytic Subunit Alpha 1	Protein Coding	2
49	PPP2R5E	Protein Phosphatase 2 Regulatory Subunit B''Epsilon	Protein Coding	2
50	PPP2R5D	Protein Phosphatase 2 Regulatory Subunit B''Delta	Protein Coding	2
51	PPP2R5C	Protein Phosphatase 2 Regulatory Subunit B''Gamma	Protein Coding	2
52	PPP2R5A	Protein Phosphatase 2 Regulatory Subunit B''Alpha	Protein Coding	2
53	PPP2R3A	Protein Phosphatase 2 Regulatory Subunit B''''Alpha	Protein Coding	2
54	PPP2R2C	Protein Phosphatase 2 Regulatory Subunit Bgamma	Protein Coding	2
55	PPP2R2B	Protein Phosphatase 2 Regulatory Subunit Bbeta	Protein Coding	2
56	PPP2R1B	Protein Phosphatase 2 Scaffold Subunit Abeta	Protein Coding	2
57	PPP2R1A	Protein Phosphatase 2 Scaffold Subunit Aalpha	Protein Coding	2
58	PPP2CA	Protein Phosphatase 2 Catalytic Subunit Alpha	Protein Coding	2
59	DDIT4	DNA Damage Inducible Transcript 4	Protein Coding	2
60	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	2
61	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	2
62	PIK3CG	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Gamma	Protein Coding	2
63	PIK3CD	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta	Protein Coding	2
64	PIK3CB	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta	Protein Coding	2
65	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	2
66	PGF	Placental Growth Factor	Protein Coding	2
67	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	2
68	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	2
69	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	Protein Coding	2
70	PDGFB	Platelet Derived Growth Factor Subunit B	Protein Coding	2
71	PDGFA	Platelet Derived Growth Factor Subunit A	Protein Coding	2
72	OSM	Oncostatin M	Protein Coding	2
73	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	2
74	NOS3	Nitric Oxide Synthase 3	Protein Coding	2
75	NGFR	Nerve Growth Factor Receptor	Protein Coding	2
76	NGF	Nerve Growth Factor	Protein Coding	2
77	ATF4	Activating Transcription Factor 4	Protein Coding	2
78	KITLG	KIT Ligand	Protein Coding	2
79	MET	MET Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	2
80	MDM2	MDM2 Proto-Oncogene	Protein Coding	2
81	LAMC2	Laminin Subunit Gamma 2	Protein Coding	2
82	LAMC1	Laminin Subunit Gamma 1	Protein Coding	2
83	LAMB3	Laminin Subunit Beta 3	Protein Coding	2
84	LAMB2	Laminin Subunit Beta 2	Protein Coding	2
85	LAMB1	Laminin Subunit Beta 1	Protein Coding	2
86	LAMA4	Laminin Subunit Alpha 4	Protein Coding	2
87	LAMA3	Laminin Subunit Alpha 3	Protein Coding	2
88	LAMA2	Laminin Subunit Alpha 2	Protein Coding	2
89	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	2
90	KIT	KIT Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	2
91	KDR	Kinase Insert Domain Receptor	Protein Coding	2
92	JAK3	Janus Kinase 3	Protein Coding	2
93	JAK2	Janus Kinase 2	Protein Coding	2
94	JAK1	Janus Kinase 1	Protein Coding	2
95	ITGB8	Integrin Subunit Beta 8	Protein Coding	2
96	ITGB6	Integrin Subunit Beta 6	Protein Coding	2
97	ITGB5	Integrin Subunit Beta 5	Protein Coding	2
98	ITGB4	Integrin Subunit Beta 4	Protein Coding	2
99	ITGB3	Integrin Subunit Beta 3	Protein Coding	2
100	ITGB1	Integrin Subunit Beta 1	Protein Coding	2
101	ITGAV	Integrin Subunit Alpha V	Protein Coding	2
102	ITGA7	Integrin Subunit Alpha 7	Protein Coding	2
103	ITGA5	Integrin Subunit Alpha 5	Protein Coding	2
104	ITGA4	Integrin Subunit Alpha 4	Protein Coding	2
105	ITGA3	Integrin Subunit Alpha 3	Protein Coding	2
106	ITGA2B	Integrin Subunit Alpha 2b	Protein Coding	2
107	ITGA2	Integrin Subunit Alpha 2	Protein Coding	2
108	IRS1	Insulin Receptor Substrate 1	Protein Coding	2
109	ITGA6	Integrin Subunit Alpha 6	Protein Coding	2
110	INSR	Insulin Receptor	Protein Coding	2
111	INS	Insulin	Protein Coding	2
112	IL7R	Interleukin 7 Receptor	Protein Coding	2
113	IL6R	Interleukin 6 Receptor	Protein Coding	2
114	IL4R	Interleukin 4 Receptor	Protein Coding	2
115	IL2RG	Interleukin 2 Receptor Subunit Gamma	Protein Coding	2
116	IL2RB	Interleukin 2 Receptor Subunit Beta	Protein Coding	2
117	IL2RA	Interleukin 2 Receptor Subunit Alpha	Protein Coding	2
118	IL2	Interleukin 2	Protein Coding	2
119	IKBKB	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta	Protein Coding	2
120	IGF1R	Insulin Like Growth Factor 1 Receptor	Protein Coding	2
121	IGF1	Insulin Like Growth Factor 1	Protein Coding	2
122	IFNB1	Interferon Beta 1	Protein Coding	2
123	IFNAR2	Interferon Alpha And Beta Receptor Subunit 2	Protein Coding	2
124	IFNAR1	Interferon Alpha And Beta Receptor Subunit 1	Protein Coding	2
125	IBSP	Integrin Binding Sialoprotein	Protein Coding	2
126	TNC	Tenascin C	Protein Coding	2
127	HSP90AB1	Heat Shock Protein 90 Alpha Family Class B Member 1	Protein Coding	2
128	HSP90AA1	Heat Shock Protein 90 Alpha Family Class A Member 1	Protein Coding	2
129	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	2
130	HGF	Hepatocyte Growth Factor	Protein Coding	2
131	GYS2	Glycogen Synthase 2	Protein Coding	2
132	GYS1	Glycogen Synthase 1	Protein Coding	2
133	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	2
134	ANGPT2	Angiopoietin 2	Protein Coding	2
135	LAMA1	Laminin Subunit Alpha 1	Protein Coding	2
136	ANGPT1	Angiopoietin 1	Protein Coding	2
137	GNGT2	G Protein Subunit Gamma Transducin 2	Protein Coding	2
138	GNGT1	G Protein Subunit Gamma Transducin 1	Protein Coding	2
139	GNG11	G Protein Subunit Gamma 11	Protein Coding	2
140	GNG7	G Protein Subunit Gamma 7	Protein Coding	2
141	GNG5	G Protein Subunit Gamma 5	Protein Coding	2
142	GNB3	G Protein Subunit Beta 3	Protein Coding	2
143	GNB1	G Protein Subunit Beta 1	Protein Coding	2
144	GHR	Growth Hormone Receptor	Protein Coding	2
145	FGF21	Fibroblast Growth Factor 21	Protein Coding	2
146	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	2
147	PIK3R5	Phosphoinositide-3-Kinase Regulatory Subunit 5	Protein Coding	2
148	FN1	Fibronectin 1	Protein Coding	2
149	FLT4	Fms Related Receptor Tyrosine Kinase 4	Protein Coding	2
150	PHLPP1	PH Domain And Leucine Rich Repeat Protein Phosphatase 1	Protein Coding	2
151	FLT1	Fms Related Receptor Tyrosine Kinase 1	Protein Coding	2
152	FOXO3	Forkhead Box O3	Protein Coding	2
153	VEGFD	Vascular Endothelial Growth Factor D	Protein Coding	2
154	FGFR4	Fibroblast Growth Factor Receptor 4	Protein Coding	2
155	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	2
156	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	2
157	FGFR1	Fibroblast Growth Factor Receptor 1	Protein Coding	2
158	FGF14	Fibroblast Growth Factor 14	Protein Coding	2
159	FGF13	Fibroblast Growth Factor 13	Protein Coding	2
160	FGF12	Fibroblast Growth Factor 12	Protein Coding	2
161	FGF10	Fibroblast Growth Factor 10	Protein Coding	2
162	FGF9	Fibroblast Growth Factor 9	Protein Coding	2
163	FGF8	Fibroblast Growth Factor 8	Protein Coding	2
164	FGF7	Fibroblast Growth Factor 7	Protein Coding	2
165	FGF6	Fibroblast Growth Factor 6	Protein Coding	2
166	FGF4	Fibroblast Growth Factor 4	Protein Coding	2
167	FGF3	Fibroblast Growth Factor 3	Protein Coding	2
168	FGF2	Fibroblast Growth Factor 2	Protein Coding	2
169	FGF1	Fibroblast Growth Factor 1	Protein Coding	2
170	F2R	Coagulation Factor II Thrombin Receptor	Protein Coding	2
171	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	2
172	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	2
173	EPOR	Erythropoietin Receptor	Protein Coding	2
174	EPO	Erythropoietin	Protein Coding	2
175	EIF4EBP1	Eukaryotic Translation Initiation Factor 4E Binding Protein 1	Protein Coding	2
176	EIF4E	Eukaryotic Translation Initiation Factor 4E	Protein Coding	2
177	EPHA2	EPH Receptor A2	Protein Coding	2
178	EGFR	Epidermal Growth Factor Receptor	Protein Coding	2
179	EGF	Epidermal Growth Factor	Protein Coding	2
180	EFNA5	Ephrin A5	Protein Coding	2
181	EFNA1	Ephrin A1	Protein Coding	2
182	LPAR1	Lysophosphatidic Acid Receptor 1	Protein Coding	2
183	CREB3L4	CAMP Responsive Element Binding Protein 3 Like 4	Protein Coding	2
184	CSH1	Chorionic Somatomammotropin Hormone 1	Protein Coding	2
185	CSF3R	Colony Stimulating Factor 3 Receptor	Protein Coding	2
186	CSF3	Colony Stimulating Factor 3	Protein Coding	2
187	CSF1R	Colony Stimulating Factor 1 Receptor	Protein Coding	2
188	CSF1	Colony Stimulating Factor 1	Protein Coding	2
189	ATF2	Activating Transcription Factor 2	Protein Coding	2
190	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	2
191	COMP	Cartilage Oligomeric Matrix Protein	Protein Coding	2
192	COL6A2	Collagen Type VI Alpha 2 Chain	Protein Coding	2
193	COL4A6	Collagen Type IV Alpha 6 Chain	Protein Coding	2
194	COL4A4	Collagen Type IV Alpha 4 Chain	Protein Coding	2
195	COL4A2	Collagen Type IV Alpha 2 Chain	Protein Coding	2
196	COL4A1	Collagen Type IV Alpha 1 Chain	Protein Coding	2
197	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	2
198	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	2
199	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	2
200	CHRM2	Cholinergic Receptor Muscarinic 2	Protein Coding	2
201	CHRM1	Cholinergic Receptor Muscarinic 1	Protein Coding	2
202	LAMC3	Laminin Subunit Gamma 3	Protein Coding	2
203	CDKN1B	Cyclin Dependent Kinase Inhibitor 1B	Protein Coding	2
204	CDKN1A	Cyclin Dependent Kinase Inhibitor 1A	Protein Coding	2
205	LPAR6	Lysophosphatidic Acid Receptor 6	Protein Coding	2
206	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	2
207	EIF4B	Eukaryotic Translation Initiation Factor 4B	Protein Coding	2
208	EFNA4	Ephrin A4	Protein Coding	2
209	EFNA3	Ephrin A3	Protein Coding	2
210	EIF4E2	Eukaryotic Translation Initiation Factor 4E Family Member 2	Protein Coding	2
211	LPAR2	Lysophosphatidic Acid Receptor 2	Protein Coding	2
212	CREB3L1	CAMP Responsive Element Binding Protein 3 Like 1	Protein Coding	2
213	ITGA10	Integrin Subunit Alpha 10	Protein Coding	2
214	CREB3L3	CAMP Responsive Element Binding Protein 3 Like 3	Protein Coding	2
215	ATF6B	Activating Transcription Factor 6 Beta	Protein Coding	2
216	CDC37	Cell Division Cycle 37, HSP90 Cochaperone	Protein Coding	2
217	CHAD	Chondroadherin	Protein Coding	2
218	CREB3	CAMP Responsive Element Binding Protein 3	Protein Coding	2
219	TCL1A	TCL1 Family AKT Coactivator A	Protein Coding	2
220	THBS4	Thrombospondin 4	Protein Coding	2
221	THBS3	Thrombospondin 3	Protein Coding	2
222	CREB3L2	CAMP Responsive Element Binding Protein 3 Like 2	Protein Coding	2
223	MLST8	MTOR Associated Protein MLST8	Protein Coding	2
224	TNN	Tenascin N	Protein Coding	2
225	LPAR5	Lysophosphatidic Acid Receptor 5	Protein Coding	2
226	GNG12	G Protein Subunit Gamma 12	Protein Coding	2
227	PPP2R2D	Protein Phosphatase 2 Regulatory Subunit Bdelta	Protein Coding	2
228	PPP2R5B	Protein Phosphatase 2 Regulatory Subunit B''Beta	Protein Coding	2
229	PPP2CB	Protein Phosphatase 2 Catalytic Subunit Beta	Protein Coding	2
230	PPP2R3C	Protein Phosphatase 2 Regulatory Subunit B''''Gamma~Name Same As:- HGNC:9311	Protein Coding	2
231	GNG2	G Protein Subunit Gamma 2	Protein Coding	2
232	GNG13	G Protein Subunit Gamma 13	Protein Coding	2
233	ANGPT4	Angiopoietin 4	Protein Coding	2
234	LAMA5	Laminin Subunit Alpha 5	Protein Coding	2
235	ITGB7	Integrin Subunit Beta 7	Protein Coding	2
236	ITGA9	Integrin Subunit Alpha 9	Protein Coding	2
237	IL3RA	Interleukin 3 Receptor Subunit Alpha	Protein Coding	2
238	IFNA7	Interferon Alpha 7	Protein Coding	2
239	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	2
240	LPAR4	Lysophosphatidic Acid Receptor 4	Protein Coding	2
241	GNG10	G Protein Subunit Gamma 10	Protein Coding	2
242	GNG4	G Protein Subunit Gamma 4	Protein Coding	2
243	GNG3	G Protein Subunit Gamma 3	Protein Coding	2
244	GNB2	G Protein Subunit Beta 2	Protein Coding	2
245	FGF22	Fibroblast Growth Factor 22	Protein Coding	2
246	FGF20	Fibroblast Growth Factor 20	Protein Coding	2
247	EIF4E1B	Eukaryotic Translation Initiation Factor 4E Family Member 1B	Protein Coding	2
248	LPAR3	Lysophosphatidic Acid Receptor 3	Protein Coding	2
249	PHLPP2	PH Domain And Leucine Rich Repeat Protein Phosphatase 2	Protein Coding	2
250	ITGA11	Integrin Subunit Alpha 11	Protein Coding	2
251	FGF11	Fibroblast Growth Factor 11	Protein Coding	2
252	LOC102723407	Immunoglobulin Heavy Variable 4-38-2-Like	Protein Coding	1
253	G6PC2	Glucose-6-Phosphatase Catalytic Subunit 2	Protein Coding	1
254	CD19	CD19 Molecule	Protein Coding	1
255	G6PC3	Glucose-6-Phosphatase Catalytic Subunit 3	Protein Coding	1
256	CCNE2	Cyclin E2	Protein Coding	1
257	CCNE1	Cyclin E1	Protein Coding	1
258	CCND3	Cyclin D3	Protein Coding	1
259	CCND2	Cyclin D2	Protein Coding	1
260	FGF23	Fibroblast Growth Factor 23	Protein Coding	1
261	TP53	Tumor Protein P53	Protein Coding	1
262	TLR4	Toll Like Receptor 4	Protein Coding	1
263	TLR2	Toll Like Receptor 2	Protein Coding	1
264	TGFA	Transforming Growth Factor Alpha	Protein Coding	1
265	SYK	Spleen Associated Tyrosine Kinase	Protein Coding	1
266	BRCA1	BRCA1 DNA Repair Associated	Protein Coding	1
267	SOS2	SOS Ras/Rho Guanine Nucleotide Exchange Factor 2	Protein Coding	1
268	SGK1	Serum/Glucocorticoid Regulated Kinase 1	Protein Coding	1
269	BDNF	Brain Derived Neurotrophic Factor	Protein Coding	1
270	BCL2L1	BCL2 Like 1	Protein Coding	1
271	RELA	RELA Proto-Oncogene, NF-KB Subunit	Protein Coding	1
272	BCL2	BCL2 Apoptosis Regulator	Protein Coding	1
273	CCND1	Cyclin D1	Protein Coding	1
274	RBL2	RB Transcriptional Corepressor Like 2	Protein Coding	1
275	RAC1	Rac Family Small GTPase 1	Protein Coding	1
276	PRKCA	Protein Kinase C Alpha	Protein Coding	1
277	PPP2R2A	Protein Phosphatase 2 Regulatory Subunit Balpha	Protein Coding	1
278	PCK2	Phosphoenolpyruvate Carboxykinase 2, Mitochondrial	Protein Coding	1
279	PCK1	Phosphoenolpyruvate Carboxykinase 1	Protein Coding	1
280	NTRK2	Neurotrophic Receptor Tyrosine Kinase 2	Protein Coding	1
281	NTRK1	Neurotrophic Receptor Tyrosine Kinase 1	Protein Coding	1
282	NTF4	Neurotrophin 4	Protein Coding	1
283	NTF3	Neurotrophin 3	Protein Coding	1
284	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	1
285	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	1
286	MYB	MYB Proto-Oncogene, Transcription Factor	Protein Coding	1
287	ITGA1	Integrin Subunit Alpha 1	Protein Coding	1
288	IL7	Interleukin 7	Protein Coding	1
289	IL6	Interleukin 6	Protein Coding	1
290	IL4	Interleukin 4	Protein Coding	1
291	IL3	Interleukin 3	Protein Coding	1
292	FASLG	Fas Ligand	Protein Coding	1
293	IGF2	Insulin Like Growth Factor 2	Protein Coding	1
294	IFNA10	Interferon Alpha 10	Protein Coding	1
295	IFNA5	Interferon Alpha 5	Protein Coding	1
296	IFNA2	Interferon Alpha 2	Protein Coding	1
297	IFNA1	Interferon Alpha 1	Protein Coding	1
298	GH2	Growth Hormone 2	Protein Coding	1
299	GH1	Growth Hormone 1	Protein Coding	1
300	G6PC1	Glucose-6-Phosphatase Catalytic Subunit 1	Protein Coding	1
301	FLT3	Fms Related Receptor Tyrosine Kinase 3	Protein Coding	1
302	FGF5	Fibroblast Growth Factor 5	Protein Coding	1
303	COL9A3	Collagen Type IX Alpha 3 Chain	Protein Coding	1
304	COL9A2	Collagen Type IX Alpha 2 Chain	Protein Coding	1
305	COL9A1	Collagen Type IX Alpha 1 Chain	Protein Coding	1
306	COL6A3	Collagen Type VI Alpha 3 Chain	Protein Coding	1
307	COL6A1	Collagen Type VI Alpha 1 Chain	Protein Coding	1
308	COL4A5	Collagen Type IV Alpha 5 Chain	Protein Coding	1
309	COL4A3	Collagen Type IV Alpha 3 Chain	Protein Coding	1
310	THEM4	Thioesterase Superfamily Member 4	Protein Coding	1
311	CHUK	Component Of Inhibitor Of Nuclear Factor Kappa B Kinase Complex	Protein Coding	1
312	GNB5	G Protein Subunit Beta 5	Protein Coding	1
313	CDK6	Cyclin Dependent Kinase 6	Protein Coding	1
314	CDK4	Cyclin Dependent Kinase 4	Protein Coding	1
315	CDK2	Cyclin Dependent Kinase 2	Protein Coding	1
316	SGK2	Serum/Glucocorticoid Regulated Kinase 2	Protein Coding	1
317	BCL2L11	BCL2 Like 11	Protein Coding	1
318	PIK3R6	Phosphoinositide-3-Kinase Regulatory Subunit 6	Protein Coding	1
319	PIK3R3	Phosphoinositide-3-Kinase Regulatory Subunit 3	Protein Coding	1
320	CSH2	Chorionic Somatomammotropin Hormone 2	Protein Coding	1
321	COL6A6	Collagen Type VI Alpha 6 Chain	Protein Coding	1
322	PIK3AP1	Phosphoinositide-3-Kinase Adaptor Protein 1	Protein Coding	1
323	ADAMTSL4-AS1	ADAMTSL4 Antisense RNA 1	RNA Gene	1
324	PKN2	Protein Kinase N2	Protein Coding	1
325	PKN1	Protein Kinase N1	Protein Coding	1
326	IFNA21	Interferon Alpha 21	Protein Coding	1
327	IFNA17	Interferon Alpha 17	Protein Coding	1
328	IFNA16	Interferon Alpha 16	Protein Coding	1
329	IFNA14	Interferon Alpha 14	Protein Coding	1
330	IFNA13	Interferon Alpha 13	Protein Coding	1
331	IFNA8	Interferon Alpha 8	Protein Coding	1
332	IFNA6	Interferon Alpha 6	Protein Coding	1
333	IFNA4	Interferon Alpha 4	Protein Coding	1
334	PKN3	Protein Kinase N3	Protein Coding	1
335	PPP2R3B	Protein Phosphatase 2 Regulatory Subunit B''''Beta~Name Same As:- HGNC:9310	Protein Coding	1
336	COL6A5	Collagen Type VI Alpha 5 Chain	Protein Coding	1
337	SGK3	Serum/Glucocorticoid Regulated Kinase Family Member 3	Protein Coding	1
338	FLT3LG	Fms Related Receptor Tyrosine Kinase 3 Ligand	Protein Coding	1
339	LAMB4	Laminin Subunit Beta 4	Protein Coding	1
340	PIK3C2A	Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Alpha	Protein Coding	1
341	PFKFB4	6-Phosphofructo-2-Kinase/Fructose-2,6-Biphosphatase 4	Protein Coding	1
342	PFKFB2	6-Phosphofructo-2-Kinase/Fructose-2,6-Biphosphatase 2	Protein Coding	1
343	PFKFB1	6-Phosphofructo-2-Kinase/Fructose-2,6-Biphosphatase 1	Protein Coding	1
344	RAB14	RAB14, Member RAS Oncogene Family	Protein Coding	1
345	RAB10	RAB10, Member RAS Oncogene Family	Protein Coding	1
346	STRADA	STE20 Related Adaptor Alpha	Protein Coding	1
347	RAB11B	RAB11B, Member RAS Oncogene Family	Protein Coding	1
348	FGF16	Fibroblast Growth Factor 16	Protein Coding	1
349	IRS2	Insulin Receptor Substrate 2	Protein Coding	1
350	IRS4	Insulin Receptor Substrate 4	Protein Coding	1
351	AKT1S1	AKT1 Substrate 1	Protein Coding	1
352	SREBF1	Sterol Regulatory Element Binding Transcription Factor 1	Protein Coding	1
353	SLC2A4	Solute Carrier Family 2 Member 4	Protein Coding	1
354	SLC2A3	Solute Carrier Family 2 Member 3	Protein Coding	1
355	SLC2A2	Solute Carrier Family 2 Member 2	Protein Coding	1
356	SLC2A1	Solute Carrier Family 2 Member 1	Protein Coding	1
357	RAB2A	RAB2A, Member RAS Oncogene Family	Protein Coding	1
358	PIK3C2B	Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Beta	Protein Coding	1
359	PFKFB3	6-Phosphofructo-2-Kinase/Fructose-2,6-Biphosphatase 3	Protein Coding	1
360	COL5A3	Collagen Type V Alpha 3 Chain	Protein Coding	1
361	NOS2	Nitric Oxide Synthase 2	Protein Coding	1
362	NOS1	Nitric Oxide Synthase 1	Protein Coding	1
363	RAB8A	RAB8A, Member RAS Oncogene Family	Protein Coding	1
364	LIPE	Lipase E, Hormone Sensitive Type	Protein Coding	1
365	ITGB2	Integrin Subunit Beta 2	Protein Coding	1
366	ITGAX	Integrin Subunit Alpha X	Protein Coding	1
367	ITGAL	Integrin Subunit Alpha L	Protein Coding	1
368	FOXA1	Forkhead Box A1	Protein Coding	1
369	ACACA	Acetyl-CoA Carboxylase Alpha	Protein Coding	1
370	HIF1A	Hypoxia Inducible Factor 1 Subunit Alpha	Protein Coding	1
371	TBC1D1	TBC1 Domain Family Member 1	Protein Coding	1
372	FOXO1	Forkhead Box O1	Protein Coding	1
373	EPAS1	Endothelial PAS Domain Protein 1	Protein Coding	1
374	ELAVL1	ELAV Like RNA Binding Protein 1	Protein Coding	1
375	COL11A2	Collagen Type XI Alpha 2 Chain	Protein Coding	1
376	COL11A1	Collagen Type XI Alpha 1 Chain	Protein Coding	1
377	COL5A2	Collagen Type V Alpha 2 Chain	Protein Coding	1
378	COL5A1	Collagen Type V Alpha 1 Chain	Protein Coding	1
379	COL3A1	Collagen Type III Alpha 1 Chain	Protein Coding	1
380	PIK3IP1	Phosphoinositide-3-Kinase Interacting Protein 1	Protein Coding	1
381	PPARGC1A	PPARG Coactivator 1 Alpha	Protein Coding	1
382	ULK1	Unc-51 Like Autophagy Activating Kinase 1	Protein Coding	1
383	CAB39L	Calcium Binding Protein 39 Like	Protein Coding	1
384	HIF3A	Hypoxia Inducible Factor 3 Subunit Alpha	Protein Coding	1
385	PELO	Pelota MRNA Surveillance And Ribosome Rescue Factor	Protein Coding	1
386	CAB39	Calcium Binding Protein 39	Protein Coding	1
387	ITGAE	Integrin Subunit Alpha E	Protein Coding	1
388	ITGAD	Integrin Subunit Alpha D	Protein Coding	1
389	PIK3R4	Phosphoinositide-3-Kinase Regulatory Subunit 4	Protein Coding	1
390	CRTC2	CREB Regulated Transcription Coactivator 2	Protein Coding	1

Disorders associated with PI3K-Akt signaling pathway SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Bladder cancer	Enrichment	BRCA1, CDKN1A, EGFR, FGFR3, HRAS, KRAS, PIK3CA, PTEN, TP53, TSC1	8.95
2	Hemimegalencephaly	Enrichment	AKT3, MTOR, PIK3CA, PTEN, RHEB	8.28
3	Noonan syndrome and noonan-related syndrome	Enrichment	HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1	7.85
4	Lung non-small cell carcinoma	Enrichment	EGFR, HRAS, KRAS, MAP2K1, NRAS, PIK3CA	7.31
5	Noonan syndrome 1	Enrichment	HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1, SOS2	7.31
6	Ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, THBS2, TNXB	6.99
7	Nevus, epidermal	Enrichment	FGFR3, HRAS, KRAS, NRAS, PIK3CA	6.97
8	Rasopathy	Enrichment	HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1, SOS2	6.83
9	Lip and oral cavity carcinoma	Enrichment	EGFR, HRAS, KIT, PIK3CA, STK11, TP53	6.72
10	Colorectal cancer	Enrichment	AKT1, BRCA1, CCND1, FGFR2, FGFR3, IGF2, MET, NRAS, PIK3CA, PIK3R1, SGK2, TLR2, TP53	6.64
11	Focal cortical dysplasia, type ii	Enrichment	MTOR, RHEB, TSC1, TSC2	6.62
12	Isolated focal cortical dysplasia type ii	Enrichment	MTOR, RHEB, TSC1, TSC2	6.62
13	Junctional epidermolysis bullosa	Enrichment	ITGA6, ITGB4, LAMA3, LAMB3, LAMC2	6.21
14	Adult hepatocellular carcinoma	Enrichment	EGF, PIK3CA, TP53, TSC1, TSC2	5.96
15	Ovarian cancer	Enrichment	AKT1, BRCA1, CDKN1B, EGFR, KIT, KRAS, MET, NTRK1, PDGFRA, PIK3CA, PTEN, TP53, TSC2	5.88
16	Ehlers-danlos syndrome, classic type, 1	Enrichment	COL1A1, COL1A2, COL5A1, COL5A2	5.46
17	Epidermolysis bullosa, junctional 1a, intermediate	Enrichment	ITGB4, LAMA3, LAMB3, LAMC2	5.46
18	Testicular germ cell tumor	Enrichment	FGFR3, KIT, KITLG, STK11	5.46
19	Junctional epidermolysis bullosa non-herlitz type	Enrichment	ITGB4, LAMA3, LAMB3, LAMC2	5.46
20	Keratoconus	Enrichment	COL1A1, COL4A1, COL5A2, TSC1	5.46
21	Lung squamous cell carcinoma	Enrichment	EGFR, FGFR3, KRAS, PIK3CA	5.46
22	Classic ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2, COL5A1, COL5A2	5.46
23	Breast adenocarcinoma	Enrichment	AKT1, KRAS, PIK3CA, TP53	5.26
24	Noonan syndrome 3	Enrichment	HRAS, KRAS, RAF1, SOS1	5.10
25	Gastric cancer	Enrichment	BRCA1, CDK4, FGFR2, KRAS, PIK3CA, PTEN, STK11, TP53	5.02
26	Lacrimoauriculodentodigital syndrome 1	Enrichment	FGF10, FGFR2, FGFR3	4.96
27	Hamartoma	Enrichment	FGFR3, TSC1, TSC2	4.96
28	Testicular germ cell cancer	Enrichment	FGFR3, KIT, STK11	4.96
29	Lung cancer	Enrichment	BRCA1, EGFR, FASLG, KRAS, MET, PIK3CA, PPP2R1B	4.95
30	Pilomyxoid astrocytoma	Enrichment	FGFR1, KRAS, NTRK2, RAF1	4.90
31	Multiple epiphyseal dysplasia due to collagen 9 anomaly	Enrichment	COL9A1, COL9A2, COL9A3	4.81
32	Collagen vi-related dystrophies	Enrichment	COL6A1, COL6A2, COL6A3	4.81
33	Intermediate collagen vi-related muscular dystrophy	Enrichment	COL6A1, COL6A2, COL6A3	4.81
34	Digenic alport syndrome	Enrichment	COL4A3, COL4A4, COL4A5	4.81
35	Kidney disease	Enrichment	COL4A3, COL4A4, COL4A5, LAMB2, TSC1	4.64
36	Arteriovenous malformation	Enrichment	HRAS, MAP2K1, PIK3CA, TEK	4.56
37	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS, KRAS, NRAS	4.37
38	Cardiofaciocutaneous syndrome 1	Enrichment	KRAS, MAP2K1, MAP2K2	4.37
39	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3, PIK3CA, PIK3R2	4.37
40	Cardiofaciocutaneous syndrome	Enrichment	KRAS, MAP2K1, MAP2K2	4.37
41	Myopathy, x-linked, with excessive autophagy	Enrichment	HRAS, MAP2K1, PIK3CA, TEK	4.34
42	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3, CCND2, PIK3R2	4.22
43	Autosomal recessive stickler syndrome	Enrichment	COL9A1, COL9A2, COL9A3	4.22
44	Bethlem muscular dystrophy	Enrichment	COL6A1, COL6A2, COL6A3	4.22
45	Myeloma, multiple	Enrichment	CCND1, FGFR3, FLT3, IL7R, KRAS, PIK3R2, SGK1, TP53	4.16
46	Stickler syndrome	Enrichment	COL2A1, COL9A1, COL9A2, COL9A3	4.15
47	Nephrotic syndrome	Enrichment	COL4A3, COL4A4, COL4A5, FN1, ITGA3, LAMA5, LAMB2	4.07
48	Breast cancer	Enrichment	AKT1, BRCA1, GNG3, IL2, IL7R, KRAS, PIK3CA, PTEN, TP53	4.00
49	Meningioma	Enrichment	AKT1, PDGFB, PIK3CA, PTEN	3.98
50	Primary hypereosinophilic syndrome	Enrichment	FGFR1, PDGFRA, PDGFRB	3.98
51	Inherited cancer-predisposing syndrome	Enrichment	BRCA1, CDK4, CDKN1B, EGFR, KIT, MET, PDGFRA, PTEN, STK11, TP53, TSC1, TSC2	3.93
52	Alport syndrome 3a, autosomal dominant	Enrichment	COL4A3, COL4A4, COL4A5	3.83
53	Ullrich congenital muscular dystrophy 1a	Enrichment	COL6A1, COL6A2, COL6A3	3.83
54	Autosomal dominant alport syndrome	Enrichment	COL4A3, COL4A4, COL4A5	3.83
55	Alport syndrome	Enrichment	COL4A3, COL4A4, COL4A5	3.83
56	Multisystem inflammatory syndrome in children	Enrichment	IFNA21, IFNA4, IFNA6, IFNAR2, IFNB1	3.76
57	Cowden syndrome 1	Enrichment	EGFR, PIK3CA, PTEN	3.68
58	Epidermolysis bullosa, junctional 1b, severe	Enrichment	LAMA3, LAMB3, LAMC2	3.68
59	Fetomaternal alloimmune thrombocytopenia 1	Enrichment	ITGA2, ITGA2B, ITGB3	3.68
60	Type 2 diabetes mellitus	Enrichment	AKT2, INSR, IRS1, IRS2, SLC2A2, SLC2A4	3.51
61	Lung cancer susceptibility 3	Enrichment	EGFR, FGF10, KRAS, TP53	3.50
62	Thyroid cancer, nonmedullary, 2	Enrichment	HRAS, NRAS, PTEN	3.45
63	Capillary malformation-arteriovenous malformation 1	Enrichment	KRAS, MAP2K1, PIK3CA	3.45
64	Follicular thyroid carcinoma	Enrichment	HRAS, NRAS, PTEN	3.45
65	Leukemia, acute myeloid	Enrichment	FLT3, JAK2, KIT, KRAS, NRAS, TP53	3.36
66	Epiphyseal dysplasia, multiple, 1	Enrichment	COL1A1, COMP	3.31
67	Ehlers-danlos syndrome, hypermobility type	Enrichment	COL3A1, TNXB	3.31
68	Spondyloepimetaphyseal dysplasia, strudwick type	Enrichment	COL2A1, FN1	3.31
69	Spondylometaphyseal dysplasia, corner fracture type	Enrichment	COL2A1, FN1	3.31
70	Otospondylomegaepiphyseal dysplasia, autosomal recessive	Enrichment	COL11A2, COL2A1	3.31
71	Dermatofibrosarcoma protuberans	Enrichment	COL1A1, PDGFB	3.31
72	Lymphangioleiomyomatosis	Enrichment	TSC1, TSC2	3.31
73	Keratosis, seborrheic	Enrichment	FGFR3, PIK3CA	3.31
74	Pfeiffer syndrome	Enrichment	FGFR1, FGFR2	3.31
75	Jackson-weiss syndrome	Enrichment	FGFR1, FGFR2	3.31
76	Encephalocraniocutaneous lipomatosis	Enrichment	FGFR1, KRAS	3.31
77	Ras-associated autoimmune leukoproliferative disorder	Enrichment	KRAS, NRAS	3.31
78	Otospondylomegaepiphyseal dysplasia, autosomal dominant	Enrichment	COL11A2, COL2A1	3.31
79	Ehlers-danlos syndrome, arthrochalasia type, 2	Enrichment	COL1A1, COL1A2	3.31
80	Fibrochondrogenesis	Enrichment	COL11A1, COL11A2	3.31
81	Rosette-forming glioneuronal tumor	Enrichment	FGFR1, PIK3CA	3.31
82	Stickler syndrome, type ii	Enrichment	COL11A1, COL1A1	3.31
83	Ehlers-danlos/osteogenesis imperfecta syndrome	Enrichment	COL1A1, COL1A2	3.31
84	Bethlem myopathy 1a	Enrichment	COL6A1, COL6A2, COL6A3	3.30
85	Squamous cell carcinoma, head and neck	Enrichment	EGFR, PTEN, TP53	3.30
86	Intervertebral disc disease	Enrichment	COL9A2, COL9A3, THBS2	3.30
87	Gallbladder cancer	Enrichment	KRAS, PIK3CA, TP53	3.30
88	Rhabdomyosarcoma	Enrichment	BRCA1, HRAS, PTEN, TP53	3.26
89	Gliosarcoma	Enrichment	EGFR, FGFR1, FGFR3, TP53	3.26
90	Melanocytic nevus syndrome, congenital	Enrichment	HRAS, NRAS, RAF1	3.25
91	Cervical cancer	Enrichment	FGFR3, TP53	3.21
92	Cervix carcinoma	Enrichment	FGFR3, TP53	3.21
93	Arthritis	Enrichment	RELN, SYK	3.21
94	X-linked diffuse leiomyomatosis-alport syndrome	Enrichment	COL4A5, COL4A6	3.21
95	Differentiated thyroid carcinoma	Enrichment	HRAS, KRAS, LPAR4, NRAS, NTRK1	3.16
96	Giant cell glioblastoma	Enrichment	EGFR, FGFR1, FGFR3, TP53	3.15
97	Hereditary breast carcinoma	Enrichment	AKT1, BRCA1, KRAS, PIK3CA, PTEN, TP53	3.13
98	Cowden syndrome	Enrichment	AKT1, PIK3CA, PTEN	3.08
99	Primary bone dysplasia	Enrichment	COL1A1, COL1A2, FGFR3	2.93
100	Crouzon syndrome	Enrichment	FGFR2, FGFR3	2.84
101	Bleeding disorder, platelet-type, 16	Enrichment	ITGA2B, ITGB3	2.84
102	Telecanthus	Enrichment	COL11A1, COL5A2	2.84
103	Tuberous sclerosis 1	Enrichment	TSC1, TSC2	2.84
104	Langerhans cell histiocytosis	Enrichment	MAP2K1, NRAS	2.84
105	Ehlers-danlos syndrome, classic type, 2	Enrichment	COL5A1, COL5A2	2.84
106	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3CA, PIK3R1	2.84
107	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3CD, PIK3R1	2.84
108	Large congenital melanocytic nevus	Enrichment	HRAS, NRAS	2.84
109	Breast implant-associated anaplastic large cell lymphoma	Enrichment	JAK1, JAK2	2.84
110	Immunodeficiency 14	Enrichment	PIK3CD, PIK3R1	2.84
111	Spermatocytoma	Enrichment	FGFR3, HRAS	2.84
112	High bone mass osteogenesis imperfecta	Enrichment	COL1A1, COL1A2	2.84
113	Myxofibrosarcoma	Enrichment	CREB3L1, CREB3L2	2.84
114	Multiple epiphyseal dysplasia	Enrichment	COL2A1, COMP	2.84
115	Testicular cancer	Enrichment	FGFR3, STK11	2.84
116	Osteochondrodysplasia	Enrichment	COL1A1, COL1A2, FGFR3	2.80
117	Endometrial cancer	Enrichment	BRCA1, FGFR2, PIK3CA, PTEN	2.79
118	Hematuria, benign familial, 1	Enrichment	COL4A3, COL4A4	2.74
119	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	BCL2, MYC	2.74
120	Dedifferentiated liposarcoma	Enrichment	CDK4, MDM2	2.74
121	Phosphoenolpyruvate carboxykinase deficiency	Enrichment	PCK1, PCK2	2.74
122	Well-differentiated liposarcoma	Enrichment	CDK4, MDM2	2.74
123	Glycogen storage disease	Enrichment	G6PC1, GYS1, GYS2	2.66
124	Precursor t-cell acute lymphoblastic leukemia	Enrichment	FLT3, MYB, MYC, TCL1A	2.63
125	Nk-cell enteropathy	Enrichment	IGF1R, JAK3, PIK3CB	2.58
126	Ehlers-danlos syndrome, arthrochalasia type, 1	Enrichment	COL1A1, COL1A2	2.54
127	Brain small vessel disease 1 with or without ocular anomalies	Enrichment	COL4A1, COL4A2	2.54
128	Erythrocytosis, familial, 1	Enrichment	EPOR, JAK2	2.54
129	Saethre-chotzen syndrome	Enrichment	FGFR2, FGFR3	2.54
130	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	KRAS, NRAS	2.54
131	Tuberous sclerosis	Enrichment	TSC1, TSC2	2.54
132	Osteogenesis imperfecta with normal sclerae, dominant form	Enrichment	COL1A1, COL1A2	2.54
133	Glioma	Enrichment	FGFR2, PTEN	2.54
134	Pancreatic cancer	Enrichment	BRCA1, KRAS, STK11, TP53	2.49
135	Multiple sclerosis	Enrichment	ITGB4, LAMA5, LAMB1	2.48
136	Primary ovarian insufficiency	Enrichment	JAK2, KDR, NOS3, NTRK1, PRLR, THBS1	2.46
137	Alport syndrome 2, autosomal recessive	Enrichment	COL4A3, COL4A4	2.44
138	Lung sarcomatoid carcinoma	Enrichment	KRAS, TP53	2.44
139	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Enrichment	FLT3, KIT	2.44
140	Autosomal recessive alport syndrome	Enrichment	COL4A3, COL4A4	2.44
141	Osteogenesis imperfecta, type iii	Enrichment	COL1A1, COL1A2, CREB3L1	2.39
142	Myopia	Enrichment	COL11A1, COL2A1, COL4A4	2.39
143	Non-immune hydrops fetalis	Enrichment	ANGPT2, FLT4, HRAS, KRAS	2.33
144	Hemifacial hyperplasia	Enrichment	FGFR2, FGFR3	2.33
145	Insulin-like growth factor i	Enrichment	IGF1, IGF1R	2.33
146	Pre-eclampsia	Enrichment	FLT1, NOS3	2.33
147	Holoprosencephaly	Enrichment	FGF8, FGFR1	2.33
148	Epidermolysis bullosa	Enrichment	ITGA6, LAMB3	2.33
149	Familial porencephaly	Enrichment	COL4A1, COL4A2	2.33
150	Connective tissue disease	Enrichment	COL11A1, COL2A1, COL5A1, FGFR3	2.28
151	Prostate cancer	Enrichment	BRCA1, PIK3CA, PTEN, TP53	2.26
152	Retinal detachment	Enrichment	COL2A1, COL9A3	2.23
153	Acute myeloid leukemia with maturation	Enrichment	FLT3, KIT	2.23
154	Acute megakaryocytic leukemia	Enrichment	PTEN, TP53	2.23
155	Acute myeloid leukemia with t(8;21)(q22;q22) translocation	Enrichment	FLT3, KIT	2.23
156	Heart, malformation of	Enrichment	COL11A2, COL2A1, MAPK1	2.16
157	Normosmic congenital hypogonadotropic hypogonadism	Enrichment	FGF17, FGF8, FGFR1	2.16
158	Osteogenesis imperfecta, type i	Enrichment	COL1A1, COL1A2	2.16
159	Holoprosencephaly 1	Enrichment	FGF8, FGFR1	2.16
160	Epidermolysis bullosa, junctional 5b, with pyloric atresia	Enrichment	ITGA6, ITGB4	2.16
161	Hemangioma, capillary infantile	Enrichment	FLT4, KDR	2.16
162	Hemorrhage, intracerebral	Enrichment	COL4A1, COL4A2	2.16
163	46,xy disorder of sex development	Enrichment	FGFR3, INSR	2.16
164	Autosomal dominant secondary polycythemia	Enrichment	EPAS1, EPO	2.16
165	Li-fraumeni syndrome	Enrichment	MDM2, TP53	2.06
166	Hemihyperplasia, isolated	Enrichment	IGF2, PIK3CA	2.06
167	Type 1 diabetes mellitus	Enrichment	IL6, INS	2.06
168	Multiple endocrine neoplasia, type i	Enrichment	CDKN1A, CDKN1B	2.02
169	Osteogenesis imperfecta, type ii	Enrichment	COL1A1, COL1A2	2.02
170	Glanzmann thrombasthenia 1	Enrichment	ITGA2B, ITGB3	2.02
171	Gastrointestinal stromal tumor	Enrichment	KIT, PDGFRA	2.02
172	Leukemia, chronic myeloid	Enrichment	KRAS, NRAS	2.02
173	Renal cell carcinoma, papillary, 1	Enrichment	MET, MTOR	2.02
174	Multiple enchondromatosis, maffucci type	Enrichment	COL2A1, HIF1A	2.02
175	Oligoarticular juvenile idiopathic arthritis	Enrichment	IL2RA, IL2RB	2.02
176	Overgrowth syndrome	Enrichment	MTOR, PIK3R1	2.02
177	Rheumatoid factor-negative juvenile idiopathic arthritis	Enrichment	IL2RA, IL2RB	2.02
178	Cerebral palsy	Enrichment	COL4A1, COL4A2, GNB1, PDGFRB	1.97
179	Arteriovenous malformations of the brain	Enrichment	EGFR, IL6, KRAS	1.95
180	Neuropathy, hereditary sensory and autonomic, type v	Enrichment	NGF, NTRK1	1.92
181	Essential thrombocythemia	Enrichment	JAK2, TP53	1.92
182	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	FLT3, TP53	1.92
183	Skin disease	Enrichment	ITGB4, LAMB3, LAMC2	1.91
184	Basal ganglia calcification, idiopathic, 1	Enrichment	PDGFB, PDGFRB	1.90
185	Brittle bone disorder	Enrichment	COL1A1, COL1A2, CREB3L1	1.86
186	Kallmann syndrome	Enrichment	FGF17, FGF8, FGFR1	1.86
187	Renal agenesis, bilateral	Enrichment	FGF20, ITGA8	1.79
188	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	COL1A1, COL3A1, COL5A1, COL5A2	1.79
189	Hepatocellular carcinoma	Enrichment	MET, PIK3CA, TP53	1.78
190	Amelogenesis imperfecta, type ie	Enrichment	ITGB6, LAMB3	1.70
191	Omenn syndrome	Enrichment	IL2RG, IL7R	1.70
192	Melanoma	Enrichment	PTEN, STK11	1.70
193	Autosomal dominant macrothrombocytopenia	Enrichment	ITGA2B, ITGB3	1.70
194	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3CD, PIK3R1	1.70
195	Atypical chronic myeloid leukemia, bcr-abl1 negative	Enrichment	CSF3R, FLT3	1.70
196	Amyloidosis, primary localized cutaneous, 1	Enrichment	OSMR	1.65
197	Stickler syndrome, type i	Enrichment	COL2A1	1.65
198	Hypochondroplasia	Enrichment	FGFR3	1.65
199	Arthritis, sacroiliac	Enrichment	RELN	1.65
200	Macrodactyly	Enrichment	PIK3CA	1.65
201	Proteus syndrome	Enrichment	AKT1	1.65
202	Beare-stevenson cutis gyrata syndrome	Enrichment	FGFR2	1.65
203	Pyloric stenosis, infantile hypertrophic, 1	Enrichment	NOS1	1.65
204	Osteoglophonic dysplasia	Enrichment	FGFR1	1.65
205	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	Enrichment	COL2A1	1.65
206	Thanatophoric dysplasia, type i	Enrichment	FGFR3	1.65
207	Pseudoachondroplasia	Enrichment	COMP	1.65
208	Trigonocephaly 1	Enrichment	FGFR1	1.65
209	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	1.65
210	Ehlers-danlos syndrome, cardiac valvular type	Enrichment	COL1A2	1.65
211	Donohue syndrome	Enrichment	INSR	1.65
212	Spondylometaphyseal dysplasia, algerian type	Enrichment	COL2A1	1.65
213	Von willebrand disease, type 1	Enrichment	VWF	1.65
214	Spinocerebellar ataxia 27a	Enrichment	FGF14	1.65
215	Hypothyroidism, congenital, nongoitrous, 9	Enrichment	IRS4	1.65
216	Oculoectodermal syndrome	Enrichment	KRAS	1.65
217	Muenke syndrome	Enrichment	FGFR3	1.65
218	Vacterl association with hydrocephalus	Enrichment	PTEN	1.65
219	Premature aging syndrome, penttinen type	Enrichment	PDGFRB	1.65
220	Incontinentia pigmenti	Enrichment	IKBKG	1.65
221	Type 1 diabetes mellitus 10	Enrichment	IL2RA	1.65
222	Deafness, autosomal recessive 53	Enrichment	COL11A2	1.65
223	Hyperinsulinemic hypoglycemia, familial, 5	Enrichment	INSR	1.65
224	Osteoarthritis with mild chondrodysplasia	Enrichment	COL2A1	1.65
225	Autoinflammatory disease, systemic, x-linked	Enrichment	IKBKG	1.65
226	Avascular necrosis of femoral head, primary, 1	Enrichment	COL2A1	1.65
227	Noonan syndrome 5	Enrichment	RAF1	1.65
228	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	Enrichment	INSR	1.65
229	Hypomagnesemia 4, renal	Enrichment	EGF	1.65
230	Czech dysplasia	Enrichment	COL2A1	1.65
231	Diabetes mellitus, insulin-resistant, with acanthosis nigricans	Enrichment	INSR	1.65
232	Noonan syndrome 4	Enrichment	SOS1	1.65
233	Hypereosinophilic syndrome, idiopathic	Enrichment	PDGFRA	1.65
234	Deafness, autosomal recessive 39	Enrichment	HGF	1.65
235	Mastocytosis, cutaneous	Enrichment	KIT	1.65
236	Stomatin-deficient cryohydrocytosis with neurologic defects	Enrichment	SLC2A1	1.65
237	Spinocerebellar ataxia 12	Enrichment	PPP2R2B	1.65
238	Scaphocephaly, maxillary retrusion, and impaired intellectual development	Enrichment	FGFR2	1.65
239	Marshall syndrome	Enrichment	COL11A1	1.65
240	Melorheostosis, isolated	Enrichment	MAP2K1	1.65
241	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	1.65
242	Kniest dysplasia	Enrichment	COL2A1	1.65
243	Apert syndrome	Enrichment	FGFR2	1.65
244	Cardiomyopathy, dilated, 1jj	Enrichment	LAMA4	1.65
245	Basal ganglia calcification, idiopathic, 5	Enrichment	PDGFB	1.65
246	Hyperpigmentation with or without hypopigmentation, familial progressive	Enrichment	KITLG	1.65
247	Platyspondylic lethal skeletal dysplasia, torrance type	Enrichment	COL2A1	1.65
248	Mucoepithelial dysplasia, hereditary	Enrichment	SREBF1	1.65
249	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	1.65
250	Cowden syndrome 5	Enrichment	PIK3CA	1.65
251	Von willebrand disease, type 2	Enrichment	VWF	1.65
252	Cardiofaciocutaneous syndrome 3	Enrichment	MAP2K1	1.65
253	Myofibromatosis, infantile, 1	Enrichment	PDGFRB	1.65
254	Fibrochondrogenesis 1	Enrichment	COL11A1	1.65
255	Melanosis, neurocutaneous	Enrichment	NRAS	1.65
256	Multiple fibroadenomas of the breast	Enrichment	PRLR	1.65
257	Thanatophoric dysplasia, type ii	Enrichment	FGFR3	1.65
258	Spondyloepiphyseal dysplasia, stanescu type	Enrichment	COL2A1	1.65
259	Noonan syndrome 6	Enrichment	NRAS	1.65
260	Lissencephaly 5	Enrichment	LAMB1	1.65
261	Osteogenesis imperfecta, type xvi	Enrichment	CREB3L1	1.65
262	Hypogonadotropic hypogonadism 20 with or without anosmia	Enrichment	FGF17	1.65
263	Deafness, autosomal dominant 56	Enrichment	TNC	1.65
264	Gist-plus syndrome	Enrichment	PDGFRA	1.65
265	Microvascular complications of diabetes 2	Enrichment	EPO	1.65
266	Camptodactyly, tall stature, and hearing loss syndrome	Enrichment	FGFR3	1.65
267	Ataxia-oculomotor apraxia 3	Enrichment	PIK3R5	1.65
268	Accelerated tumor formation	Enrichment	MDM2	1.65
269	Aplasia of lacrimal and salivary glands	Enrichment	FGF10	1.65
270	Bent bone dysplasia syndrome 1	Enrichment	FGFR2	1.65
271	Acrogeria, gottron type	Enrichment	COL3A1	1.65
272	Achondrogenesis, type ii	Enrichment	COL2A1	1.65
273	Carpal tunnel syndrome 2	Enrichment	COMP	1.65
274	Hypertriglyceridemia 2	Enrichment	CREB3L3	1.65
275	Angioedema, hereditary, 5	Enrichment	ANGPT1	1.65
276	Cerebral cavernous malformations 4	Enrichment	PIK3CA	1.65
277	Immunodeficiency 15b	Enrichment	IKBKB	1.65
278	Neurodevelopmental disorder with hypotonia and dysmorphic facies	Enrichment	GNB2	1.65
279	Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus	Enrichment	TNR	1.65
280	Noonan syndrome 13	Enrichment	MAPK1	1.65
281	Immunodeficiency 106 viral infections	Enrichment	IFNAR1	1.65
282	Nephrotic syndrome, type 26	Enrichment	LAMA5	1.65
283	Deafness, x-linked 6	Enrichment	COL4A6	1.65
284	Immunodeficiency 15a	Enrichment	IKBKB	1.65
285	Intellectual developmental disorder, x-linked 110	Enrichment	FGF13	1.65
286	Spinocerebellar ataxia 27b, late-onset	Enrichment	FGF14	1.65
287	Venous malformations, multiple cutaneous and mucosal	Enrichment	TEK	1.65
288	Immunodeficiency 63 with lymphoproliferation and autoimmunity	Enrichment	IL2RB	1.65
289	Lessel-kubisch syndrome	Enrichment	MDM2	1.65
290	Ullrich congenital muscular dystrophy 1b	Enrichment	COL6A2	1.65
291	Short syndrome	Enrichment	PIK3R1	1.65
292	Von willebrand disease, type 3	Enrichment	VWF	1.65
293	Houge-janssens syndrome 4	Enrichment	PPP2R5C	1.65
294	Fetomaternal alloimmune thrombocytopenia 2	Enrichment	ITGA2B	1.65
295	Ectodermal dysplasia and immunodeficiency 1	Enrichment	IKBKG	1.65
296	Combined osteogenesis imperfecta and ehlers-danlos syndrome 2	Enrichment	COL1A2	1.65
297	Hereditary lymphedema id	Enrichment	VEGFC	1.65
298	Acetyl-coa carboxylase-alpha deficiency	Enrichment	ACACA	1.65
299	Osteofibrous dysplasia	Enrichment	MET	1.65
300	Spondyloperipheral dysplasia	Enrichment	COL2A1	1.65
301	Myosclerosis, autosomal recessive	Enrichment	COL6A2	1.65
302	Laron syndrome	Enrichment	GHR	1.65
303	Porencephaly	Enrichment	COL4A1	1.65
304	Oculoskeletodental syndrome	Enrichment	PIK3C2A	1.65
305	Deafness, autosomal dominant 37	Enrichment	COL11A1	1.65
306	Autism 19	Enrichment	EIF4E	1.65
307	Myeloid and lymphoid neoplasms associated with pdgfra rearrangement	Enrichment	PDGFRA	1.65
308	Ifap syndrome 2	Enrichment	SREBF1	1.65
309	Developmental and epileptic encephalopathy 90	Enrichment	FGF13	1.65
310	Metacarpal 4-5 fusion	Enrichment	FGF16	1.65
311	Hyperprolactinemia	Enrichment	PRLR	1.65
312	Lymphatic malformation 4	Enrichment	VEGFC	1.65
313	Growth hormone insensitivity, partial	Enrichment	GHR	1.65
314	Papillary tumor of the pineal region	Enrichment	PTEN	1.65
315	Lacrimoauriculodentodigital syndrome 3	Enrichment	FGF10	1.65
316	Cardiofaciocutaneous syndrome 2	Enrichment	KRAS	1.65
317	Houge-janssens syndrome 2	Enrichment	PPP2R1A	1.65
318	Deafness, autosomal dominant 13	Enrichment	COL11A2	1.65
319	Deafness, autosomal recessive 97	Enrichment	MET	1.65
320	Microvascular complications of diabetes 1	Enrichment	VEGFA	1.65
321	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	1.65
322	Skin/hair/eye pigmentation, variation in, 7	Enrichment	KITLG	1.65
323	Crouzon syndrome with acanthosis nigricans	Enrichment	FGFR3	1.65
324	Hemifacial myohyperplasia	Enrichment	PIK3CA	1.65
325	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	Enrichment	RAB11B	1.65
326	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	Enrichment	PIK3CA	1.65
327	Melorheostosis	Enrichment	MAP2K1	1.65
328	Neuroendocrine tumor	Enrichment	CDKN1B	1.65
329	Autism 9	Enrichment	MET	1.65
330	Stickler syndrome, type i, nonsyndromic ocular	Enrichment	COL2A1	1.65
331	Leopard syndrome 2	Enrichment	RAF1	1.65
332	Erythrocytosis, familial, 4	Enrichment	EPAS1	1.65
333	Multiple synostoses syndrome 3	Enrichment	FGF9	1.65
334	Interleukin 6, serum level of, quantitative trait locus	Enrichment	IL6R	1.65
335	Cortical malformations, occipital	Enrichment	LAMC3	1.65
336	Epilepsy, idiopathic generalized 12	Enrichment	SLC2A1	1.65
337	Basal ganglia calcification, idiopathic, 4	Enrichment	PDGFRB	1.65
338	Soluble interleukin-6 receptor, serum level of, quantitative trait locus	Enrichment	IL6R	1.65
339	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	1.65
340	Cardiofaciocutaneous syndrome 4	Enrichment	MAP2K2	1.65
341	Cowden syndrome 6	Enrichment	AKT1	1.65
342	Hyper-ige syndrome 5, autosomal recessive, with recurrent infections	Enrichment	IL6R	1.65
343	Fibrochondrogenesis 2	Enrichment	COL11A2	1.65
344	Synovitis	Enrichment	RELN	1.65
345	Immunodeficiency 14b, autosomal recessive	Enrichment	PIK3CD	1.65
346	Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement	Enrichment	PDGFRB	1.65
347	Charcot-marie-tooth disease, dominant intermediate f	Enrichment	GNB4	1.65
348	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	1.65
349	Immunodeficiency 97 with autoinflammation	Enrichment	PIK3CG	1.65
350	Hypogonadotropic hypogonadism 6 with or without anosmia	Enrichment	FGF8	1.65
351	Glioma susceptibility 2	Enrichment	PTEN	1.65
352	Achondroplasia, severe, with developmental delay and acanthosis nigricans	Enrichment	FGFR3	1.65
353	Kosaki overgrowth syndrome	Enrichment	PDGFRB	1.65
354	Erythrocytosis, familial, 5	Enrichment	EPO	1.65
355	Hartsfield syndrome	Enrichment	FGFR1	1.65
356	Congenital heart defects, multiple types, 7	Enrichment	FLT4	1.65
357	Renal hypodysplasia/aplasia 2	Enrichment	FGF20	1.65
358	Intellectual developmental disorder, autosomal dominant 42	Enrichment	GNB1	1.65
359	Glaucoma 3, primary congenital, e	Enrichment	TEK	1.65
360	Sick sinus syndrome 4	Enrichment	GNB2	1.65
361	Von willebrand's disease	Enrichment	VWF	1.65
362	Qualitative or quantitative defects of collagen 6	Enrichment	COL6A2	1.65
363	Brain abnormalities, neurodegeneration, and dysosteosclerosis	Enrichment	CSF1R	1.65
364	Developmental and epileptic encephalopathy 47	Enrichment	FGF12	1.65
365	Ocular pterygium-digital keloid dysplasia syndrome	Enrichment	PDGFRB	1.65
366	Chronic mast cell leukemia	Enrichment	KIT	1.65
367	Trigonitis	Enrichment	RAF1	1.65
368	Bent bone dysplasia syndrome 2	Enrichment	LAMA5	1.65
369	Vitreoretinopathy with phalangeal epiphyseal dysplasia	Enrichment	COL2A1	1.65
370	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	1.65
371	Tufted angioma of skin	Enrichment	KDR	1.65
372	Asphyxia neonatorum	Enrichment	COL1A1	1.65
373	Deafness, autosomal dominant 69	Enrichment	KITLG	1.65
374	Bethlem myopathy 1b	Enrichment	COL6A2	1.65
375	T-b+ severe combined immunodeficiency due to jak3 deficiency	Enrichment	JAK3	1.65
376	Arthrogryposis, distal, type 11	Enrichment	MET	1.65
377	Amelogenesis imperfecta, type ih	Enrichment	ITGB6	1.65
378	Lacrimoauriculodentodigital syndrome 2	Enrichment	FGFR3	1.65
379	Csf1r-related disorder	Enrichment	CSF1R	1.65
380	Col4a1-related disorders	Enrichment	COL4A1	1.65
381	Occipital pachygyria and polymicrogyria	Enrichment	LAMC3	1.65
382	Short-rib thoracic dysplasia 22 without polydactyly	Enrichment	FGF4	1.65
383	Hypospadias	Enrichment	PIK3CA	1.65
384	Bockenheimer syndrome	Enrichment	TEK	1.65
385	Capillary hemangioma	Enrichment	AKT3	1.65
386	Familial hyperprolactinemia	Enrichment	PRLR	1.65
387	Multiple paragangliomas associated with polycythemia	Enrichment	EPAS1	1.65
388	Isolated bone marrow mastocytosis	Enrichment	KIT	1.65
389	Congenital pulmonary airway malformation	Enrichment	KRAS	1.65
390	Autosomal dominant rhegmatogenous retinal detachment	Enrichment	COL2A1	1.65
391	Smoldering systemic mastocytosis	Enrichment	KIT	1.65
392	Rare venous malformation	Enrichment	PIK3CA	1.65
393	Fetomaternal alloimmune thrombocytopenia 3	Enrichment	ITGA2	1.65
394	Col4a1 or col4a2-related cerebral small vessel disease	Enrichment	COL4A1	1.65
395	Multiple epiphyseal dysplasia with myopia and deafness	Enrichment	COL2A1	1.65
396	Immune dysregulation, neurodevelopmental defects, and colitis	Enrichment	ITGAV	1.65
397	Spinocerebellar ataxia type 27b	Enrichment	FGF14	1.65
398	Diaphragmatic eventration	Enrichment	PIK3CA	1.65
399	Hypochondrogenesis	Enrichment	COL2A1	1.65
400	Fgfr3-related chondrodysplasia	Enrichment	FGFR3	1.65
401	Chronic neutrophilic leukemia	Enrichment	CSF3R	1.65
402	Pneumothorax	Enrichment	COL5A1	1.65
403	Mastocytosis	Enrichment	KIT	1.65
404	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	1.65
405	Congenital primary lymphedema of gordon	Enrichment	VEGFC	1.65
406	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	Enrichment	FGFR3	1.65
407	Epilepsy with myoclonic absences	Enrichment	SLC2A1	1.65
408	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	Enrichment	COL11A1	1.65
409	Familial progressive hyperpigmentation	Enrichment	KITLG	1.65
410	Dysspondyloenchondromatosis	Enrichment	COL2A1	1.65
411	Early-onset calcifying leukoencephalopathy-skeletal dysplasia	Enrichment	CSF1R	1.65
412	Cystic lymphangioma	Enrichment	COL11A2	1.65
413	Rare combined vascular malformation	Enrichment	PIK3CA	1.65
414	Abdominal aortic aneurysm	Enrichment	COL3A1	1.65
415	Cavernous lymphangioma	Enrichment	PIK3CA	1.65
416	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	1.65
417	Cutaneous mastocytoma	Enrichment	KIT	1.65
418	Oculocerebrodental syndrome	Enrichment	PIK3C2A	1.65
419	Typical urticaria pigmentosa	Enrichment	KIT	1.65
420	T-b+ severe combined immunodeficiency due to il-7ralpha deficiency	Enrichment	IL7R	1.65
421	Phakomatosis pigmentokeratotica	Enrichment	HRAS	1.65
422	Ppp2r1a-related neurodevelopmental disorder	Enrichment	PPP2R1A	1.65
423	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Enrichment	PTEN	1.65
424	Nodular urticaria pigmentosa	Enrichment	KIT	1.65
425	Type 2 collagen-related bone disorder	Enrichment	COL2A1	1.65
426	Intestinal polyposis syndrome	Enrichment	STK11	1.65
427	Hartsfield-bixler-demyer syndrome	Enrichment	FGFR1	1.65
428	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	1.65
429	Pseudoxanthomatous diffuse cutaneous mastocytosis	Enrichment	KIT	1.65
430	Lama5-related multisystemic syndrome	Enrichment	LAMA5	1.65
431	Telangiectasia macularis eruptiva perstans	Enrichment	KIT	1.65
432	Acute mast cell leukemia	Enrichment	KIT	1.65
433	Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency	Enrichment	JAK1	1.65
434	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	1.65
435	Egf-related primary hypomagnesemia with intellectual disability	Enrichment	EGF	1.65
436	Non-syndromic unicoronal craniosynostosis	Enrichment	FGFR2	1.65
437	Familial progressive hyper- and hypopigmentation	Enrichment	KITLG	1.65
438	Plaque-form urticaria pigmentosa	Enrichment	KIT	1.65
439	Interstitial lung disease specific to childhood	Enrichment	FGF10	1.65
440	Macrodactyly of toe	Enrichment	PIK3CA	1.65
441	Neurocutaneous melanocytosis	Enrichment	NRAS	1.65
442	Hereditary cryohydrocytosis with reduced stomatin	Enrichment	SLC2A1	1.65
443	Bullous diffuse cutaneous mastocytosis	Enrichment	KIT	1.65
444	Laminin subunit alpha 2-related muscular dystrophy	Enrichment	LAMA2	1.65
445	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	1.65
446	Testis seminoma	Enrichment	KIT	1.65
447	Meningioma, familial	Enrichment	PDGFB, PTEN	1.62
448	Specific learning disability	Enrichment	GHR, MAPK1	1.62
449	Leukemia, chronic lymphocytic	Enrichment	CCND1, TP53	1.61
450	Palmoplantar keratoderma, punctate type ii	Enrichment	BRCA1	1.60
451	Leprosy 3	Enrichment	TLR2	1.60
452	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Enrichment	PCK1	1.60
453	Alport syndrome 1, x-linked	Enrichment	COL4A5	1.60
454	Melanoma, cutaneous malignant 3	Enrichment	CDK4	1.60
455	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	Enrichment	CCND2	1.60
456	Microcephaly 12, primary, autosomal recessive	Enrichment	CDK6	1.60
457	Noonan syndrome 9	Enrichment	SOS2	1.60
458	Fetal encasement syndrome	Enrichment	CHUK	1.60
459	Epiphyseal dysplasia, multiple, 6	Enrichment	COL9A1	1.60
460	Immunodeficiency 82 with systemic inflammation	Enrichment	SYK	1.60
461	Developmental and epileptic encephalopathy 58	Enrichment	NTRK2	1.60
462	Brunet-wagner neurodevelopmental syndrome	Enrichment	RBL2	1.60
463	Immunodeficiency 130 with hpv-related verrucosis	Enrichment	IL7	1.60
464	Epiphyseal dysplasia, multiple, 2	Enrichment	COL9A2	1.60
465	Bone marrow failure syndrome 5	Enrichment	TP53	1.60
466	Papilloma of choroid plexus	Enrichment	TP53	1.60
467	Basal cell carcinoma 7	Enrichment	TP53	1.60
468	Ullrich congenital muscular dystrophy 1c	Enrichment	COL6A3	1.60
469	Anaplastic thyroid carcinoma	Enrichment	TP53	1.60
470	Infant-type hemispheric glioma	Enrichment	BRCA1	1.60
471	Epiphyseal dysplasia, multiple, 3	Enrichment	COL9A3	1.60
472	Familial isolated trichomegaly	Enrichment	FGF5	1.60
473	Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia	Enrichment	GNB5	1.60
474	Stickler syndrome, type iv	Enrichment	COL9A1	1.60
475	Glaucoma 1, open angle, o	Enrichment	NTF4	1.60
476	Dystonia 27	Enrichment	COL6A3	1.60
477	Immunodeficiency, common variable, 3	Enrichment	CD19	1.60
478	Acute myeloid leukemia with minimal differentiation	Enrichment	FLT3	1.60
479	Macular degeneration, age-related, 10	Enrichment	TLR4	1.60
480	Obesity, hyperphagia, and developmental delay	Enrichment	NTRK2	1.60
481	Ductal carcinoma in situ	Enrichment	TP53	1.60
482	Stickler syndrome, type v	Enrichment	COL9A2	1.60
483	Tumoral calcinosis, hyperphosphatemic, familial, 2	Enrichment	FGF23	1.60
484	Bartsocas-papas syndrome 2	Enrichment	CHUK	1.60
485	Thyroid gland undifferentiated carcinoma	Enrichment	TP53	1.60
486	Small-cell carcinoma of the ovary of hypercalcemic type	Enrichment	TP53	1.60
487	Immunodeficiency 125	Enrichment	FLT3LG	1.60
488	Bethlem myopathy 1c	Enrichment	COL6A3	1.60
489	Retinal lattice degeneration	Enrichment	COL9A3	1.60
490	Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype	Enrichment	TP53	1.60
491	Colitis	Enrichment	SYK	1.60
492	Choroid plexus cancer	Enrichment	TP53	1.60
493	X-linked alport syndrome	Enrichment	COL4A5	1.60
494	Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency	Enrichment	CHUK	1.60
495	Pleomorphic xanthoastrocytoma	Enrichment	TP53	1.60
496	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	1.60
497	Primary peritoneal carcinoma	Enrichment	BRCA1	1.60
498	Juvenile myelomonocytic leukemia	Enrichment	KRAS, NRAS	1.55
499	Hypertelorism	Enrichment	COL11A1, COL1A1, FGFR2, PIK3CA	1.55
500	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	COL11A1, COL11A2, KITLG, TNC	1.55
501	Leukemia, acute lymphoblastic	Enrichment	FLT3, GNB1	1.53
502	Myelodysplastic syndrome	Enrichment	GNB1, TP53	1.53
503	Uterine corpus cancer	Enrichment	BRCA1, PTEN	1.53
504	Osteogenesis imperfecta, type iv	Enrichment	COL1A1, COL1A2	1.48
505	Severe combined immunodeficiency	Enrichment	IKBKB, IL7R, JAK3	1.44
506	Osteoporosis	Enrichment	COL1A1, COL1A2	1.42
507	Cataract	Enrichment	COL5A1, EPHA2	1.42
508	Chronic kidney disease	Enrichment	COL4A4, COL4A5	1.39
509	Renal cell carcinoma, nonpapillary	Enrichment	MET, MTOR	1.37
510	Hydrocephalus	Enrichment	FGFR2, PDGFRB	1.37
511	Lynch syndrome	Enrichment	KRAS, PIK3CA	1.37
512	Ehlers-danlos syndrome, vascular type	Enrichment	COL3A1	1.36
513	Lymphatic malformation 1	Enrichment	FLT4	1.36
514	Amelogenesis imperfecta, type ia	Enrichment	LAMB3	1.36
515	Leukocyte adhesion deficiency, type i	Enrichment	ITGB2	1.36
516	Peutz-jeghers syndrome	Enrichment	STK11	1.36
517	Blue rubber bleb nevus	Enrichment	TEK	1.36
518	Myeloproliferative disorder, chronic, with eosinophilia	Enrichment	PDGFRB	1.36
519	Fibromatosis, gingival, 1	Enrichment	SOS1	1.36
520	Otodental dysplasia	Enrichment	FGF3	1.36
521	Costello syndrome	Enrichment	HRAS	1.36
522	Fanconi-bickel syndrome	Enrichment	SLC2A2	1.36
523	Glycogen storage disease 0, liver	Enrichment	GYS2	1.36
524	Epidermolysis bullosa, junctional 2c, laryngoonychocutaneous	Enrichment	LAMA3	1.36
525	Bruck syndrome 1	Enrichment	COL1A2	1.36
526	Intracranial hypertension, idiopathic	Enrichment	FLT4	1.36
527	Myasthenic syndrome, congenital, 5	Enrichment	LAMB2	1.36
528	Dystonia 9	Enrichment	SLC2A1	1.36
529	Pulmonary hypoplasia, primary	Enrichment	FGF10	1.36
530	Immunodeficiency 33	Enrichment	IKBKG	1.36
531	Pulmonic stenosis	Enrichment	SOS1	1.36
532	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Enrichment	PIK3R5	1.36
533	Immunodeficiency 41 with lymphoproliferation and autoimmunity	Enrichment	IL2RA	1.36
534	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	1.36
535	Piebald trait	Enrichment	KIT	1.36
536	Hyperinsulinemic hypoglycemia, familial, 4	Enrichment	INSR	1.36
537	Aural atresia, congenital	Enrichment	FGFR2	1.36
538	Glut1 deficiency syndrome 1	Enrichment	SLC2A1	1.36
539	Legg-calve-perthes disease	Enrichment	COL2A1	1.36
540	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	Enrichment	FGF3	1.36
541	Leukocyte adhesion deficiency, type iii	Enrichment	ITGB2	1.36
542	Lissencephaly 1	Enrichment	LAMB1	1.36
543	Neutrophilia, hereditary	Enrichment	CSF3R	1.36
544	Roifman-chitayat syndrome	Enrichment	PIK3CD	1.36
545	Specific language impairment 5	Enrichment	COL4A4	1.36
546	Immunodeficiency 45	Enrichment	IFNAR2	1.36
547	Growth hormone deficiency, isolated partial	Enrichment	GHR	1.36
548	Angioma, tufted	Enrichment	KDR	1.36
549	Maturity-onset diabetes of the young, type 10	Enrichment	INS	1.36
550	Night blindness, congenital stationary, type 1h	Enrichment	GNB3	1.36
551	Noonan syndrome 8	Enrichment	PIK3CA	1.36
552	Pierson syndrome	Enrichment	LAMB2	1.36
553	Thrombocythemia 3	Enrichment	JAK2	1.36
554	Neutropenia, severe congenital, 7, autosomal recessive	Enrichment	CSF3R	1.36
555	Multiple endocrine neoplasia, type iv	Enrichment	CDKN1B	1.36
556	Houge-janssens syndrome 1	Enrichment	PPP2R5D	1.36
557	Antley-bixler syndrome without genital anomalies or disordered steroidogenesis	Enrichment	FGFR2	1.36
558	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	Enrichment	COL4A2	1.36
559	Combined osteogenesis imperfecta and ehlers-danlos syndrome 1	Enrichment	COL1A1	1.36
560	Epidermolysis bullosa, junctional 3b, severe	Enrichment	LAMC2	1.36
561	Epidermolysis bullosa, junctional 3a, intermediate	Enrichment	LAMC2	1.36
562	Waardenburg syndrome, type 2f	Enrichment	KITLG	1.36
563	Hyperproinsulinemia	Enrichment	INS	1.36
564	Fibromuscular dysplasia, multifocal	Enrichment	COL5A1	1.36
565	Diamond-blackfan anemia-like	Enrichment	EPO	1.36
566	Epidermolysis bullosa, junctional 2a, intermediate	Enrichment	LAMA3	1.36
567	Epidermolysis bullosa, junctional 5a, intermediate	Enrichment	ITGB4	1.36
568	Myoectodermal gonadal dysgenesis syndrome	Enrichment	PPP2R3C	1.36
569	Spermatogenic failure 36	Enrichment	PPP2R3C	1.36
570	Cebalid syndrome	Enrichment	MTOR	1.36
571	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	Enrichment	COL3A1	1.36
572	Infantile myofibromatosis	Enrichment	PDGFRB	1.36
573	Nephrotic syndrome, type 5, with or without ocular abnormalities	Enrichment	LAMB2	1.36
574	Primary cutaneous amyloidosis	Enrichment	OSMR	1.36
575	Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	Enrichment	ITGA3	1.36
576	Childhood hepatocellular carcinoma	Enrichment	MET	1.36
577	Glucose transporter type 1 deficiency syndrome	Enrichment	SLC2A1	1.36
578	Polyhydramnios, megalencephaly, and symptomatic epilepsy	Enrichment	STRADA	1.36
579	Glycogen storage disease 0, muscle	Enrichment	GYS1	1.36
580	Aortic dissection	Enrichment	COL3A1	1.36
581	Senior-loken syndrome 7	Enrichment	AKT3	1.36
582	Split hand-foot malformation	Enrichment	FGFR2	1.36
583	Erythrocytosis, familial, 3	Enrichment	EPAS1	1.36
584	Papillary renal cell carcinoma	Enrichment	MET	1.36
585	Glomerulonephritis	Enrichment	COL4A4	1.36
586	Severe congenital neutropenia 7	Enrichment	CSF3R	1.36
587	Immunodeficiency 104, severe combined	Enrichment	IL7R	1.36
588	Diabetes mellitus, permanent neonatal, 4	Enrichment	INS	1.36
589	Autoinflammation, immune dysregulation, and eosinophilia	Enrichment	JAK1	1.36
590	Ectodermal dysplasia and immune deficiency	Enrichment	IKBKG	1.36
591	Multiple sclerosis 3	Enrichment	IL7R	1.36
592	Familial avascular necrosis of the femoral head	Enrichment	COL2A1	1.36
593	Immune system disease	Enrichment	PIK3CD	1.36
594	Bardet-biedl syndrome 16	Enrichment	AKT3	1.36
595	Epidermolysis bullosa, junctional 2b, severe	Enrichment	LAMA3	1.36
596	Smith-kingsmore syndrome	Enrichment	MTOR	1.36
597	Hereditary lymphedema i	Enrichment	FLT4	1.36
598	Glucosephosphate dehydrogenase deficiency	Enrichment	IKBKG	1.36
599	Polycythemia	Enrichment	JAK2	1.36
600	Lymphatic malformation 10	Enrichment	ANGPT2	1.36
601	Glycogen storage disorder due to hepatic glycogen synthase deficiency	Enrichment	GYS2	1.36
602	Houge-janssens syndrome 3	Enrichment	PPP2CA	1.36
603	Interfrontal craniofaciosynostosis	Enrichment	FGFR1	1.36
604	Localized junctional epidermolysis bullosa, non-herlitz type	Enrichment	ITGB4	1.36
605	Autosomal dominant nonsyndromic deafness	Enrichment	FGFR2	1.36
606	Chronic eosinophilic leukemia	Enrichment	PDGFRA	1.36
607	Transient infantile hypertriglyceridemia and hepatosteatosis	Enrichment	CREB3L3	1.36
608	Vacterl with hydrocephalus	Enrichment	PTEN	1.36
609	Growth delay due to insulin-like growth factor type 1 deficiency	Enrichment	IGF1	1.36
610	Hypereosinophilic syndrome	Enrichment	JAK2	1.36
611	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	Enrichment	GYS1	1.36
612	Dentinogenesis imperfecta	Enrichment	COL1A2	1.36
613	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality	Enrichment	PDGFRA	1.36
614	B-lymphoblastic leukemia/lymphoma with t	Enrichment	KIT	1.36
615	Juvenile polyposis of infancy	Enrichment	PTEN	1.36
616	Tafro syndrome	Enrichment	MAP2K2	1.36
617	Oculootodental syndrome	Enrichment	FGF3	1.36
618	Cerebral visual impairment	Enrichment	GNB1	1.36
619	Wooly hair nevus	Enrichment	HRAS	1.36
620	Isolated macular dystrophy	Enrichment	COL4A5, ITGA4	1.33
621	Microform holoprosencephaly	Enrichment	FGF8, FGFR1	1.32
622	Lobar holoprosencephaly	Enrichment	FGF8, FGFR1	1.32
623	Hereditary breast ovarian cancer syndrome	Enrichment	BRCA1, KRAS, PTEN, TP53	1.32
624	Burkitt lymphoma	Enrichment	MYC	1.31
625	Adrenocortical carcinoma, hereditary	Enrichment	TP53	1.31
626	Insensitivity to pain, congenital, with anhidrosis	Enrichment	NTRK1	1.31
627	Trichomegaly	Enrichment	FGF5	1.31
628	Phosphoenolpyruvate carboxykinase deficiency, mitochondrial	Enrichment	PCK2	1.31
629	Neutropenia, severe congenital, 4, autosomal recessive	Enrichment	G6PC3	1.31
630	Silver-russell syndrome 3	Enrichment	IGF2	1.31
631	Lymphoma, hodgkin, classic	Enrichment	TP53	1.31
632	Immunodeficiency, common variable, 12, with autoimmunity	Enrichment	NFKB1	1.31
633	Pain sensitivity quantitative trait locus 1	Enrichment	NTRK1	1.31
634	Stickler syndrome, type vi	Enrichment	COL9A3	1.31
635	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	1.31
636	Fanconi anemia, complementation group s	Enrichment	BRCA1	1.31
637	Autoinflammatory disease, familial, behcet-like 3	Enrichment	RELA	1.31
638	Kowarski syndrome	Enrichment	GH1	1.31
639	Intravascular large b-cell lymphoma	Enrichment	BCL2	1.31
640	Pancreatic cancer 4	Enrichment	BRCA1	1.31
641	Rela fusion-positive ependymoma	Enrichment	RELA	1.31
642	Acute basophilic leukemia	Enrichment	MYB	1.31
643	Congenital fibrosarcoma	Enrichment	TP53	1.31
644	Li-fraumeni syndrome 1	Enrichment	TP53	1.31
645	Sarcoma	Enrichment	TP53	1.31
646	Angiocentric glioma	Enrichment	MYB	1.31
647	Hodgkin's lymphoma	Enrichment	TP53	1.31
648	Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia	Enrichment	GNB5	1.31
649	Inflammatory breast carcinoma	Enrichment	BRCA1	1.31
650	Acute myeloid leukemia without maturation	Enrichment	FLT3	1.31
651	Severe congenital neutropenia 4	Enrichment	G6PC3	1.31
652	Peritoneum cancer	Enrichment	BRCA1	1.31
653	Bilateral breast cancer	Enrichment	BRCA1	1.31
654	Short stature due to growth hormone qualitative anomaly	Enrichment	GH1	1.31
655	Common variable immunodeficiency phenotype due to cd19/cd81 deficiency	Enrichment	CD19	1.31
656	Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)	Enrichment	FLT3	1.31
657	Common variable immunodeficiency 12	Enrichment	NFKB1	1.31
658	Silver-russell syndrome due to an imprinting defect of 11p15	Enrichment	IGF2	1.31
659	Pleomorphic rhabdomyosarcoma	Enrichment	TP53	1.31
660	Silver-russell syndrome due to 11p15 microduplication	Enrichment	IGF2	1.31
661	Alzheimer disease, familial, 1	Enrichment	CSF1R, NOS3	1.27
662	Hypertension, essential	Enrichment	GNB3, NOS3	1.27
663	Cleft palate, isolated	Enrichment	COL11A1, GNB1	1.27
664	Hypertension	Enrichment	COL4A4, COL4A5	1.23
665	Semilobar holoprosencephaly	Enrichment	FGF8, FGFR1	1.22
666	Benign epilepsy with centrotemporal spikes	Enrichment	RELN, SLC2A1, STRADA	1.20
667	Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency	Enrichment	JAK3	1.18
668	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	ITGB3	1.18
669	Achondroplasia	Enrichment	FGFR3	1.18
670	Mccune-albright syndrome	Enrichment	COL2A1	1.18
671	Type 1 diabetes mellitus 2	Enrichment	INS	1.18
672	Retinal arteries, tortuosity of	Enrichment	COL4A1	1.18
673	Hypogonadotropic hypogonadism 2 with or without anosmia	Enrichment	FGFR1	1.18
674	Larsen syndrome	Enrichment	FGFR3	1.18
675	Spondyloepiphyseal dysplasia congenita	Enrichment	COL2A1	1.18
676	Megalocornea	Enrichment	COL11A1	1.18
677	Hypophosphatasia, infantile	Enrichment	COL11A2	1.18
678	Polycythemia vera	Enrichment	JAK2	1.18
679	Pompe disease, infantile-onset	Enrichment	PIK3CA	1.18
680	Periventricular nodular heterotopia 1	Enrichment	VWF	1.18
681	Leukoencephalopathy, hereditary diffuse, with spheroids 1	Enrichment	CSF1R	1.18
682	Ifap syndrome 1, with or without bresheck syndrome	Enrichment	SREBF1	1.18
683	Polycystic kidney disease, infantile severe, with tuberous sclerosis	Enrichment	TSC2	1.18
684	Severe combined immunodeficiency, x-linked	Enrichment	IL2RG	1.18
685	Glomerulopathy with fibronectin deposits 2	Enrichment	FN1	1.18
686	Nuchal bleb, familial	Enrichment	SOS1	1.18
687	Ehlers-danlos syndrome, classic-like, 1	Enrichment	TNXB	1.18
688	Combined immunodeficiency, x-linked	Enrichment	IL2RG	1.18
689	Glut1 deficiency syndrome 2	Enrichment	SLC2A1	1.18
690	Muscular dystrophy, congenital merosin-deficient, 1a	Enrichment	LAMA2	1.18
691	Caffey disease	Enrichment	COL1A1	1.18
692	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	Enrichment	ITGA7	1.18
693	Tuberous sclerosis 2	Enrichment	TSC2	1.18
694	Brain small vessel disease 2	Enrichment	COL4A2	1.18
695	Lipodystrophy, familial partial, type 6	Enrichment	LIPE	1.18
696	Chromosome 8p11 myeloproliferative syndrome	Enrichment	FGFR1	1.18
697	Woolly hair, autosomal recessive 3	Enrichment	LPAR6	1.18
698	Epilepsy, familial temporal lobe, 7	Enrichment	RELN	1.18
699	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	1.18
700	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Enrichment	COL4A1	1.18
701	Vesicoureteral reflux 8	Enrichment	TNXB	1.18
702	Epidermolysis bullosa, junctional 6, with pyloric atresia	Enrichment	ITGA6	1.18
703	Hypotrichosis 8	Enrichment	LPAR6	1.18
704	Ehlers-danlos syndrome, classic-like, 3	Enrichment	THBS2	1.18
705	Primary polycythemia	Enrichment	EPOR	1.18
706	Poretti-boltshauser syndrome	Enrichment	LAMA1	1.18
707	Chromosome 17q23.1-q23.2 deletion syndrome	Enrichment	SLC2A1	1.18
708	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	Enrichment	COL4A1	1.18
709	Xanthinuria, type ii	Enrichment	TSC2	1.18
710	Kyphosis	Enrichment	RELN	1.18
711	Familial vesicoureteral reflux	Enrichment	TNXB	1.18
712	Immunodeficiency 44	Enrichment	IFNAR2	1.18
713	Laryngeal squamous cell carcinoma	Enrichment	PTEN	1.18
714	Growth delay due to insulin-like growth factor i resistance	Enrichment	IGF1R	1.18
715	Bleeding disorder, platelet-type, 24	Enrichment	ITGB3	1.18
716	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	1.18
717	Melanoma of soft tissue	Enrichment	CREB1	1.18
718	Alopecia - intellectual disability syndrome	Enrichment	ITGB6	1.18
719	Renal cell carcinoma	Enrichment	MET	1.18
720	Enchondromatosis	Enrichment	HIF1A	1.18
721	Keratoacanthoma	Enrichment	PIK3CA	1.18
722	Apc-associated polyposis conditions	Enrichment	STK11	1.18
723	Epilepsy with auditory features	Enrichment	RELN	1.18
724	Lama2-related muscular dystrophy	Enrichment	LAMA2	1.18
725	Diffuse large b-cell lymphoma	Enrichment	FOXO1, PTEN	1.18
726	Melanoma, cutaneous malignant 1	Enrichment	CDK4, STK11	1.18
727	Centralopathic epilepsy	Enrichment	RELN, SLC2A1, STRADA	1.15
728	Craniosynostosis	Enrichment	FGFR2, FGFR3	1.14
729	Thyroid carcinoma, familial medullary	Enrichment	NTRK1	1.14
730	Tumoral calcinosis, hyperphosphatemic, familial, 1	Enrichment	FGF23	1.14
731	Hypophosphatemic rickets, autosomal dominant	Enrichment	FGF23	1.14
732	Immunodeficiency 98 with autoinflammation, x-linked	Enrichment	FASLG	1.14
733	Osteogenic sarcoma	Enrichment	TP53	1.14
734	Nasopharyngeal carcinoma	Enrichment	TP53	1.14
735	Pilarowski-bjornsson syndrome	Enrichment	COL4A3	1.14
736	Alport syndrome 3b, autosomal recessive	Enrichment	COL4A3	1.14
737	Isolated growth hormone deficiency, type ib	Enrichment	GH1	1.14
738	Atypical teratoid rhabdoid tumor	Enrichment	TP53	1.14
739	Anaplastic astrocytoma	Enrichment	TP53	1.14
740	Squamous cell carcinoma	Enrichment	TP53	1.14
741	Adenocarcinoma	Enrichment	TP53	1.14
742	Hematuria, benign familial, 2	Enrichment	COL4A3	1.14
743	Bone osteosarcoma	Enrichment	TP53	1.14
744	Adenoid cystic carcinoma	Enrichment	MYB	1.14
745	Mixed phenotype acute leukemia with t	Enrichment	FLT3	1.14
746	Beckwith-wiedemann syndrome due to imprinting defect of 11p15	Enrichment	IGF2	1.14
747	Beckwith-wiedemann syndrome	Enrichment	COL6A1, IGF2	1.14
748	Myopathy	Enrichment	COL6A1, COL6A2, COL6A3	1.11
749	Amelogenesis imperfecta, type iiia	Enrichment	ITGB6	1.06
750	Hypertriglyceridemia 1	Enrichment	CREB3L3	1.06
751	Diffuse gastric and lobular breast cancer syndrome	Enrichment	KRAS	1.06
752	Huntington disease	Enrichment	SLC2A3	1.06
753	Phenylketonuria	Enrichment	COL1A1	1.06
754	Schizencephaly	Enrichment	COL4A1	1.06
755	Spastic paraplegia 17, autosomal dominant	Enrichment	GNG3	1.06
756	Budd-chiari syndrome	Enrichment	JAK2	1.06
757	Neurofibromatosis-noonan syndrome	Enrichment	MAP2K2	1.06
758	Lipodystrophy, congenital generalized, type 2	Enrichment	GNG3	1.06
759	Glaucoma 3, primary infantile, b	Enrichment	TEK	1.06
760	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.06
761	Epidermolysis bullosa simplex 5c, with pyloric atresia	Enrichment	ITGB4	1.06
762	Retinitis pigmentosa 26	Enrichment	ITGA4	1.06
763	Multiple synostoses syndrome	Enrichment	FGF9	1.06
764	Neonatal diabetes mellitus	Enrichment	INS	1.06
765	Hepatitis b	Enrichment	IFNAR2	1.06
766	Cerebrovascular disease	Enrichment	PIK3CA	1.06
767	Noonan syndrome with multiple lentigines	Enrichment	RAF1	1.06
768	Pilocytic astrocytoma	Enrichment	KRAS	1.06
769	Epidermolytic nevus	Enrichment	HRAS	1.06
770	Idiopathic achalasia	Enrichment	NOS1	1.06
771	Familial cerebral cavernous malformations	Enrichment	PIK3CA	1.06
772	Adenosine deaminase deficiency	Enrichment	JAK3	1.06
773	Non-syndromic bicoronal craniosynostosis	Enrichment	FGFR3	1.06
774	Pediatric systemic lupus erythematosus	Enrichment	SPP1	1.06
775	Primary hyperparathyroidism	Enrichment	CDKN1B	1.06
776	Systemic mastocytosis with associated hematologic neoplasm	Enrichment	KIT	1.06
777	Rare x-linked non-syndromic sensorineural deafness type dfn	Enrichment	COL4A6	1.06
778	Gingival fibromatosis	Enrichment	SOS1	1.06
779	Hereditary angioedema with normal c1inh not related to f12 or plg variant	Enrichment	ANGPT1	1.06
780	Familial sick sinus syndrome	Enrichment	GNB2	1.06
781	Focal segmental glomerulosclerosis	Enrichment	COL4A4, COL4A5	1.06
782	Thrombocytopenia	Enrichment	ITGA2B, ITGB3, VWF	1.04
783	Malaria	Enrichment	IKBKG, NOS2	1.04
784	Hepatoblastoma	Enrichment	FGFR3, TP53	1.02
785	Kaposi sarcoma	Enrichment	IL6	1.02
786	Isolated growth hormone deficiency, type ii	Enrichment	GH1	1.02
787	Small cell cancer of the lung	Enrichment	TP53	1.02
788	Glycogen storage disease ia	Enrichment	G6PC1	1.02
789	Thyroid cancer, nonmedullary, 1	Enrichment	TP53	1.02
790	Polyposis syndrome, hereditary mixed, 1	Enrichment	BRCA1	1.02
791	Autoimmune lymphoproliferative syndrome	Enrichment	FASLG	1.02
792	Cholangiocarcinoma	Enrichment	BRCA1	1.02
793	Mantle cell lymphoma	Enrichment	CCND1	1.02
794	Chronic myelomonocytic leukemia	Enrichment	FLT3	1.02
795	Embryonal rhabdomyosarcoma	Enrichment	TP53	1.02
796	Silver-russell syndrome due to a point mutation	Enrichment	IGF2	1.02
797	Inherited epidermodysplasia verruciformis	Enrichment	IL7	1.02
798	Systemic-onset juvenile idiopathic arthritis	Enrichment	IL6	1.02
799	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	SOS2	1.02
800	Scoliosis	Enrichment	COL2A1, RELN	1.00
801	Tooth agenesis	Enrichment	FGFR1, TGFA	0.98
802	Cataract 6, multiple types	Enrichment	EPHA2	0.97
803	Capillary malformations, congenital	Enrichment	PIK3CA	0.97
804	Enchondromatosis, multiple, ollier type	Enrichment	HIF1A	0.97
805	Alzheimer disease 2	Enrichment	NOS3	0.97
806	Epidermolysis bullosa simplex 1c, localized	Enrichment	ITGB4	0.97
807	Microcephaly 1, primary, autosomal recessive	Enrichment	ANGPT2	0.97
808	Anemia, congenital, nonspherocytic hemolytic, 1	Enrichment	IKBKG	0.97
809	Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative	Enrichment	JAK3	0.97
810	Rhabdomyosarcoma 2	Enrichment	FOXO1	0.97
811	Macrocephaly/autism syndrome	Enrichment	PTEN	0.97
812	Familial adenomatous polyposis 1	Enrichment	STK11	0.97
813	Lissencephaly 2	Enrichment	RELN	0.97
814	Glanzmann thrombasthenia 2	Enrichment	ITGB3	0.97
815	Muscular dystrophy, limb-girdle, autosomal recessive 23	Enrichment	LAMA2	0.97
816	Familial woolly hair syndrome	Enrichment	LPAR6	0.97
817	Myeloproliferative neoplasm	Enrichment	JAK2	0.97
818	Hemangioma	Enrichment	PTEN	0.97
819	Aplasia cutis congenita	Enrichment	ITGB4	0.97
820	Aniridia	Enrichment	EPHA2	0.97
821	Generalized juvenile polyposis/juvenile polyposis coli	Enrichment	STK11	0.97
822	Familial cerebral saccular aneurysm	Enrichment	COL3A1	0.97
823	Tetralogy of fallot	Enrichment	FLT4, KDR	0.95
824	Hydrops fetalis, nonimmune	Enrichment	FLT4, HRAS	0.95
825	Von hippel-lindau syndrome	Enrichment	CCND1	0.92
826	Rheumatoid arthritis, systemic juvenile	Enrichment	IL6	0.92
827	Breast-ovarian cancer, familial 2	Enrichment	BRCA1	0.92
828	Follicular lymphoma	Enrichment	BCL2	0.92
829	Lymphoma	Enrichment	TP53	0.92
830	Hypoglycemia	Enrichment	G6PC1	0.92
831	Strabismus	Enrichment	GNB1, SLC2A1	0.92
832	Developmental dysplasia of the hip 1	Enrichment	COL2A1	0.90
833	Klippel-trenaunay-weber syndrome	Enrichment	PIK3CA	0.90
834	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	Enrichment	TNXB	0.90
835	Split-hand/foot malformation 1	Enrichment	FGFR2	0.90
836	Anterior segment dysgenesis 5	Enrichment	COL4A1	0.90
837	Inguinal hernia	Enrichment	COL5A1	0.90
838	Pain disorder	Enrichment	COL5A1	0.90
839	Sporadic pheochromocytoma/secreting paraganglioma	Enrichment	EPAS1	0.90
840	21-hydroxylase-deficient congenital adrenal hyperplasia	Enrichment	TNXB	0.90
841	Severe covid-19	Enrichment	ITGAV, JAK3	0.87
842	Microcephaly	Enrichment	COL4A1, GNB1, IGF1R, MAPK1, SLC2A1	0.85
843	Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome	Enrichment	BDNF	0.85
844	Adrenocortical carcinoma	Enrichment	TP53	0.85
845	Polycystic kidney disease 1 with or without polycystic liver disease	Enrichment	TSC2	0.84
846	Glaucoma 3, primary congenital, a	Enrichment	TEK	0.84
847	Myelofibrosis	Enrichment	JAK2	0.84
848	Waardenburg syndrome, type 2e	Enrichment	KITLG	0.84
849	Polycystic kidney disease 1	Enrichment	TSC2	0.84
850	Megacolon	Enrichment	AKT3	0.84
851	Epidermolysis bullosa simplex	Enrichment	ITGB4	0.84
852	Paroxysmal dystonia	Enrichment	SLC2A1	0.84
853	Esophageal cancer	Enrichment	TP53	0.79
854	Silver-russell syndrome 1	Enrichment	IGF2	0.79
855	Common variable immunodeficiency	Enrichment	NFKB1	0.79
856	Hypophosphatemic rickets	Enrichment	FGF23	0.79
857	Arthrogryposis, distal, type 1a	Enrichment	MET	0.78
858	Gastroesophageal reflux	Enrichment	COL5A1	0.78
859	Spastic paraplegia 4, autosomal dominant	Enrichment	COL3A1	0.78
860	Renal hypodysplasia/aplasia 1	Enrichment	ITGA8	0.78
861	Orthostatic intolerance	Enrichment	COL5A1	0.78
862	Severe congenital neutropenia	Enrichment	CSF3R	0.78
863	Alternating hemiplegia of childhood	Enrichment	SLC2A1	0.78
864	Congenital muscular dystrophy	Enrichment	LAMA2	0.78
865	Hypothyroidism	Enrichment	GNB1	0.78
866	Permanent neonatal diabetes mellitus	Enrichment	INS	0.78
867	Early-onset posterior polar cataract	Enrichment	EPHA2	0.78
868	Glioma susceptibility 1	Enrichment	TP53	0.74
869	Isolated growth hormone deficiency, type ia	Enrichment	GH1	0.74
870	Lymphoma, non-hodgkin, familial	Enrichment	TP53	0.74
871	Orofacial cleft 1	Enrichment	FGF10	0.74
872	Coronary heart disease 5	Enrichment	IKBKG	0.74
873	Leukemia, acute lymphoblastic 3	Enrichment	JAK2	0.74
874	Myoclonic-atonic epilepsy	Enrichment	SLC2A1	0.74
875	Hypogonadotropic hypogonadism	Enrichment	FGFR1	0.74
876	Ventricular septal defect	Enrichment	TEK	0.74
877	Hypotrichosis simplex	Enrichment	LPAR6	0.74
878	Familial thoracic aortic aneurysm and dissection	Enrichment	COL3A1	0.74
879	Primary autosomal recessive microcephaly	Enrichment	ANGPT2, CDK6	0.72
880	Marfan syndrome	Enrichment	COL2A1	0.70
881	Meier-gorlin syndrome 1	Enrichment	FGFR2	0.70
882	Peters-plus syndrome	Enrichment	COL4A1	0.70
883	Stroke, ischemic	Enrichment	NOS3	0.70
884	Polymicrogyria	Enrichment	AKT3	0.70
885	Inflammatory bowel disease 1	Enrichment	IL6	0.69
886	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	RAC1	0.69
887	Congenital central hypoventilation syndrome	Enrichment	BDNF	0.69
888	Primary hyperaldosteronism	Enrichment	TP53	0.69
889	Genetic steroid-resistant nephrotic syndrome	Enrichment	COL4A3, LAMA5	0.68
890	Frontotemporal dementia 1	Enrichment	CSF1R	0.66
891	Combined immunodeficiency	Enrichment	IL2RG	0.66
892	Ichthyosis	Enrichment	IL2RB	0.66
893	Combined t cell and b cell immunodeficiency	Enrichment	IL2RG	0.66
894	Diabetes mellitus	Enrichment	INS	0.66
895	Combined t and b cell immunodeficiency	Enrichment	IL2RG	0.66
896	Presynaptic congenital myasthenic syndromes	Enrichment	LAMA5	0.66
897	Ciliary dyskinesia, primary, 3	Enrichment	NFKB1	0.65
898	Familial colorectal cancer	Enrichment	TP53	0.65
899	Autism spectrum disorder	Enrichment	GNB1, MAP2K1, PTEN, TSC2	0.65
900	Septooptic dysplasia	Enrichment	FGFR1	0.63
901	Renal hypodysplasia/aplasia 3	Enrichment	FGFR3	0.63
902	Cutis laxa	Enrichment	COL5A1	0.63
903	Congenital long qt syndrome	Enrichment	SLC2A2	0.63
904	Immune deficiency disease	Enrichment	SYK	0.61
905	Aortic valve disease 1	Enrichment	SOS1	0.60
906	Hypercholesterolemia, familial, 1	Enrichment	GHR	0.60
907	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	Enrichment	COL5A1	0.60
908	Neural tube defects	Enrichment	ITGB1	0.60
909	Alzheimer's disease	Enrichment	CSF1R	0.60
910	Clubfoot	Enrichment	COL5A1	0.60
911	Amelogenesis imperfecta	Enrichment	LAMB3	0.60
912	Protein-deficiency anemia	Enrichment	NRAS	0.60
913	West syndrome	Enrichment	SLC2A1, TSC2	0.59
914	Hypogonadotropic hypogonadism 7 with or without anosmia	Enrichment	FGFR1	0.57
915	Lipoid congenital adrenal hyperplasia	Enrichment	TNXB	0.57
916	Aortic aneurysm, familial thoracic 1	Enrichment	COL3A1	0.57
917	Walker-warburg syndrome	Enrichment	COL4A1	0.57
918	Generalized epilepsy with febrile seizures plus	Enrichment	FGF13	0.57
919	Cleft lip/palate	Enrichment	PDGFRA	0.57
920	46,xy partial gonadal dysgenesis	Enrichment	SOS1	0.57
921	Congenital nervous system abnormality	Enrichment	FGFR3, GNB5, PTEN, TSC2	0.56
922	Nervous system disease	Enrichment	FGFR3, GNB5, PTEN, TSC2	0.56
923	Breast-ovarian cancer, familial 1	Enrichment	BRCA1	0.55
924	Congenital myopathy 4a, autosomal dominant	Enrichment	ITGA7	0.54
925	Corpus callosum, agenesis of	Enrichment	COL4A1	0.54
926	Anterior segment dysgenesis	Enrichment	COL4A1	0.54
927	Familial hypercholesterolemia	Enrichment	GHR	0.54
928	Autosomal dominant polycystic kidney disease	Enrichment	TSC2	0.54
929	Isolated corpus callosum agenesis	Enrichment	COL4A1	0.54
930	Rare genetic intellectual disability	Enrichment	MTOR	0.54
931	Septopreoptic holoprosencephaly	Enrichment	FGF8	0.54
932	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	COL4A1	0.54
933	Midline interhemispheric variant of holoprosencephaly	Enrichment	FGF8	0.54
934	Sensorineural hearing loss	Enrichment	COL11A2, HGF	0.54
935	Periventricular nodular heterotopia	Enrichment	BRCA1	0.53
936	Creatine phosphokinase, elevated serum	Enrichment	LAMA2	0.52
937	Isolated elevated serum creatine phosphokinase levels	Enrichment	LAMA2	0.52
938	Wilms tumor 1	Enrichment	IGF2	0.50
939	Atypical hemolytic-uremic syndrome	Enrichment	COL4A5	0.50
940	Dandy-walker syndrome	Enrichment	PDGFRB	0.50
941	Cataract 44	Enrichment	EPHA2	0.50
942	Alobar holoprosencephaly	Enrichment	FGF8	0.50
943	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	COL11A2, HGF, MET	0.50
944	Familial isolated dilated cardiomyopathy	Enrichment	LAMA4, RAF1	0.48
945	Polycystic kidney disease	Enrichment	COL4A4	0.48
946	Early-onset nuclear cataract	Enrichment	EPHA2	0.48
947	Maturity-onset diabetes of the young	Enrichment	INS	0.44
948	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	CSF1R, PPARGC1A	0.43
949	Lissencephaly	Enrichment	RELN	0.42
950	Behcet syndrome	Enrichment	TLR4	0.42
951	Myocardial infarction	Enrichment	ITGB3	0.41
952	Congenital stationary night blindness	Enrichment	GNB3	0.39
953	Undetermined early-onset epileptic encephalopathy	Enrichment	FGF12, NTRK2	0.39
954	Ear malformation	Enrichment	COL11A2	0.38
955	Cardiomyopathy, familial hypertrophic, 1	Enrichment	RAF1	0.38
956	Muscular dystrophy	Enrichment	COL6A2	0.38
957	Attention deficit-hyperactivity disorder	Enrichment	GNB5	0.37
958	Developmental and epileptic encephalopathy 1	Enrichment	SLC2A1	0.37
959	Diamond-blackfan anemia 1	Enrichment	TP53	0.36
960	Hirschsprung disease 1	Enrichment	SREBF1	0.32
961	Long qt syndrome 1	Enrichment	SLC2A2	0.31
962	Stargardt disease 1	Enrichment	COL2A1	0.31
963	Peripheral nervous system disease	Enrichment	NGF	0.29
964	Neuropathy	Enrichment	NGF	0.29
965	Familial hypertrophic cardiomyopathy	Enrichment	RAF1	0.28
966	Dilated cardiomyopathy	Enrichment	LAMA2, RAF1	0.27
967	Cakut	Enrichment	COL4A1	0.27
968	Left ventricular noncompaction	Enrichment	RAF1	0.26
969	Dystonia	Enrichment	GNB1	0.26
970	Systemic lupus erythematosus	Enrichment	SPP1	0.23
971	Fanconi anemia, complementation group a	Enrichment	BRCA1	0.23
972	Epilepsy	Enrichment	SLC2A1	0.23
973	Diamond-blackfan anemia	Enrichment	TP53	0.22
974	Charcot-marie-tooth disease	Enrichment	LAMA2	0.22
975	Nonsyndromic hearing loss	Enrichment	COL11A2	0.21
976	Autosomal dominant non-syndromic intellectual disability	Enrichment	GNB1	0.17
977	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	FGF8	0.14
978	Body mass index quantitative trait locus 11	Enrichment	BDNF	0.14
979	Schizophrenia	Enrichment	RELN	0.13
980	Complex neurodevelopmental disorder	Enrichment	GNB2, PPP2CA	0.12
981	Cone-rod dystrophy 2	Enrichment	ITGA4	0.11
982	Autism	Enrichment	COL11A1	0.10
983	Rare genetic deafness	Enrichment	COL11A2	0.08
984	Hereditary retinal dystrophy	Enrichment	COL11A2, COL2A1, ITGA4, LAMA1	0.05
985	Fundus dystrophy	Enrichment	COL11A2, COL2A1, ITGA4, LAMA1	0.05

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

PI3K-Akt signaling pathway

Pathway Network for PI3K-Akt signaling pathway

Member Pathways for PI3K-Akt signaling pathway

Pathways in the PI3K-Akt signaling pathway SuperPath

Associated Genes for PI3K-Akt signaling pathway

Associated Disorders for PI3K-Akt signaling pathway

Disorders associated with PI3K-Akt signaling pathway SuperPath

STRING Interaction Network for PI3K-Akt signaling pathway

Sources for PI3K-Akt signaling pathway