Angiopoietin-like protein 8 regulatory pathway

Pathway network for the Angiopoietin-like protein 8 regulatory pathway SuperPath

Sources:

WikiPathways

Pathways in the Angiopoietin-like protein 8 regulatory pathway SuperPath

#	Name	Source	Genes
1	Angiopoietin-like protein 8 regulatory pathway	WikiPathways	ABCG5 ABCG8 AKT1 AKT2 ANGPTL8 CAP1 CBL CBLB CBLC CRK CYP2B6 CYP3A4 CYP7A1 DIO2 EIF4E EIF4EBP1 EXOC7 FASN FBP1 FLOT1 FLOT2 FOXO1 FOXO3 G6PC1 GSK3A GSK3B GYS1 HRAS INSR IRS1 IRS2 IRS4 LPL MAP2K1 MAP2K2 MAP2K3 MAP2K4 MAP2K5 MAP2K6 MAP2K7 MAP3K1 MAP3K10 MAP3K11 MAP3K12 MAP3K13 MAP3K14 MAP3K2 MAP3K3 MAP3K4 MAP3K5 MAP3K6 MAP3K7 MAP3K8 MAP3K9 MAP4K1 MAP4K2 MAP4K3 MAP4K4 MAP4K5 MAPK1 MAPK10 MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 MAPK4 MAPK6 MAPK7 MAPK8 MAPK9 MAPKAP1 MINK1 MLST8 MLXIPL MTOR NR1H3 PCK1 PDPK1 PIK3C2A PIK3C2G PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIK3R1 PIK3R2 PIK3R3 PIK3R4 PRKAA1 PRKAA2 PRKAB1 PRKAB2 PRKAG1 PRKAG2 PRKAG3 PTPN1 RAF1 RAPGEF1 RHEB RHOQ RICTOR RPS6KA1 RPS6KA2 RPS6KA3 RPS6KA4 RPS6KA5 RPS6KA6 RPS6KB1 RPS6KB2 RPTOR RXRA SCD SESN3 SHC1 SHC2 SHC3 SLC16A2 SLC2A1 SLC2A4 SLCO1C1 SOS1 SOS2 SREBF1 SREBF2 THRA THRB TRIP10 TSC1 TSC2 (see all 131) (see less)
2	Insulin signaling	WikiPathways	AKT1 AKT2 ARF1 ARF6 ARHGAP33 CAP1 CBL CBLB CBLC CRK CYTH3 EGR1 EHD1 EHD2 EIF4E EIF4EBP1 ELK1 ENPP1 FLOT1 FLOT2 FOS FOXO1 FOXO3 GAB1 GRB10 GRB14 GRB2 GSK3A GSK3B GYG1 GYS1 GYS2 HRAS IGF1R IKBKB INPP4A INPPL1 INSR IRS1 IRS2 IRS4 JUN KIF3A KIF5B LIPE MAP2K1 MAP2K2 MAP2K3 MAP2K4 MAP2K5 MAP2K6 MAP2K7 MAP3K1 MAP3K10 MAP3K11 MAP3K12 MAP3K13 MAP3K14 MAP3K2 MAP3K3 MAP3K4 MAP3K5 MAP3K6 MAP3K7 MAP3K8 MAP3K9 MAP4K1 MAP4K2 MAP4K3 MAP4K4 MAP4K5 MAPK1 MAPK10 MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 MAPK4 MAPK6 MAPK7 MAPK8 MAPK9 MINK1 MTOR MYO1C PDPK1 PFKL PFKM PIK3C2A PIK3C2G PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIK3R1 PIK3R2 PIK3R3 PIK3R4 PPP1R3A PRKAA1 PRKAA2 PRKCA PRKCB PRKCD PRKCH PRKCI PRKCQ PRKCZ PTEN PTPN1 PTPN11 PTPRF RAB4A RAC1 RAC2 RAF1 RAPGEF1 REG1A RHEB RHOJ RHOQ RPS6KA1 RPS6KA2 RPS6KA3 RPS6KA4 RPS6KA5 RPS6KA6 RPS6KB1 RPS6KB2 RRAD SGK1 SGK2 SGK3 SH2B2 SHC1 SHC2 SHC3 SLC2A1 SLC2A4 SNAP23 SNAP25 SOCS1 SOCS3 SORBS1 SOS1 SOS2 SRF STX4 STXBP1 STXBP2 STXBP3 STXBP4 TBC1D4 TRIB3 TSC1 TSC2 VAMP2 XBP1 (see all 160) (see less)
3	Liver X receptor pathway	WikiPathways	ABCG5 ABCG8 CYP2B6 CYP3A4 CYP7A1 FASN NR1H3 RXRA SCD SREBF1 (see all 10) (see less)

Gene overlap in member pathways for Angiopoietin-like protein 8 regulatory pathway SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	PIK3C3	Phosphatidylinositol 3-Kinase Catalytic Subunit Type 3	Protein Coding	2
2	PIK3C2G	Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Gamma	Protein Coding	2
3	PIK3C2A	Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Alpha	Protein Coding	2
4	MAP4K4	Mitogen-Activated Protein Kinase Kinase Kinase Kinase 4	Protein Coding	2
5	RPS6KA5	Ribosomal Protein S6 Kinase A5	Protein Coding	2
6	CBLB	Cbl Proto-Oncogene B	Protein Coding	2
7	CBL	Cbl Proto-Oncogene	Protein Coding	2
8	IRS2	Insulin Receptor Substrate 2	Protein Coding	2
9	IRS4	Insulin Receptor Substrate 4	Protein Coding	2
10	TSC2	TSC Complex Subunit 2	Protein Coding	2
11	TSC1	TSC Complex Subunit 1	Protein Coding	2
12	MAP3K7	Mitogen-Activated Protein Kinase Kinase Kinase 7	Protein Coding	2
13	SREBF1	Sterol Regulatory Element Binding Transcription Factor 1	Protein Coding	2
14	SOS2	SOS Ras/Rho Guanine Nucleotide Exchange Factor 2	Protein Coding	2
15	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	2
16	SLC2A4	Solute Carrier Family 2 Member 4	Protein Coding	2
17	SLC2A1	Solute Carrier Family 2 Member 1	Protein Coding	2
18	SHC1	SHC Adaptor Protein 1	Protein Coding	2
19	ABCG8	ATP Binding Cassette Subfamily G Member 8	Protein Coding	2
20	ABCG5	ATP Binding Cassette Subfamily G Member 5	Protein Coding	2
21	SCD	Stearoyl-CoA Desaturase	Protein Coding	2
22	RXRA	Retinoid X Receptor Alpha	Protein Coding	2
23	RPS6KB2	Ribosomal Protein S6 Kinase B2	Protein Coding	2
24	RPS6KB1	Ribosomal Protein S6 Kinase B1	Protein Coding	2
25	RPS6KA3	Ribosomal Protein S6 Kinase A3	Protein Coding	2
26	RPS6KA2	Ribosomal Protein S6 Kinase A2	Protein Coding	2
27	RPS6KA1	Ribosomal Protein S6 Kinase A1	Protein Coding	2
28	RHEB	Ras Homolog, MTORC1 Binding	Protein Coding	2
29	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	2
30	PTPN1	Protein Tyrosine Phosphatase Non-Receptor Type 1	Protein Coding	2
31	MAP2K7	Mitogen-Activated Protein Kinase Kinase 7	Protein Coding	2
32	MAP2K6	Mitogen-Activated Protein Kinase Kinase 6	Protein Coding	2
33	MAP2K5	Mitogen-Activated Protein Kinase Kinase 5	Protein Coding	2
34	MAP2K3	Mitogen-Activated Protein Kinase Kinase 3	Protein Coding	2
35	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	2
36	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	2
37	MAPK13	Mitogen-Activated Protein Kinase 13	Protein Coding	2
38	MAPK10	Mitogen-Activated Protein Kinase 10	Protein Coding	2
39	MAPK9	Mitogen-Activated Protein Kinase 9	Protein Coding	2
40	MAPK11	Mitogen-Activated Protein Kinase 11	Protein Coding	2
41	MAPK8	Mitogen-Activated Protein Kinase 8	Protein Coding	2
42	MAPK7	Mitogen-Activated Protein Kinase 7	Protein Coding	2
43	MAPK6	Mitogen-Activated Protein Kinase 6	Protein Coding	2
44	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	2
45	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	2
46	PRKAA2	Protein Kinase AMP-Activated Catalytic Subunit Alpha 2	Protein Coding	2
47	PRKAA1	Protein Kinase AMP-Activated Catalytic Subunit Alpha 1	Protein Coding	2
48	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	2
49	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	2
50	PIK3CG	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Gamma	Protein Coding	2
51	PIK3CD	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta	Protein Coding	2
52	PIK3CB	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta	Protein Coding	2
53	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	2
54	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	2
55	MAP3K9	Mitogen-Activated Protein Kinase Kinase Kinase 9	Protein Coding	2
56	MAP3K5	Mitogen-Activated Protein Kinase Kinase Kinase 5	Protein Coding	2
57	MAP3K4	Mitogen-Activated Protein Kinase Kinase Kinase 4	Protein Coding	2
58	MAP3K3	Mitogen-Activated Protein Kinase Kinase Kinase 3	Protein Coding	2
59	MAP3K1	Mitogen-Activated Protein Kinase Kinase Kinase 1	Protein Coding	2
60	IRS1	Insulin Receptor Substrate 1	Protein Coding	2
61	INSR	Insulin Receptor	Protein Coding	2
62	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	2
63	GYS1	Glycogen Synthase 1	Protein Coding	2
64	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	2
65	GSK3A	Glycogen Synthase Kinase 3 Alpha	Protein Coding	2
66	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	2
67	RHOQ	Ras Homolog Family Member Q	Protein Coding	2
68	FOXO3	Forkhead Box O3	Protein Coding	2
69	FOXO1	Forkhead Box O1	Protein Coding	2
70	FASN	Fatty Acid Synthase	Protein Coding	2
71	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	2
72	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	2
73	EIF4EBP1	Eukaryotic Translation Initiation Factor 4E Binding Protein 1	Protein Coding	2
74	EIF4E	Eukaryotic Translation Initiation Factor 4E	Protein Coding	2
75	CYP7A1	Cytochrome P450 Family 7 Subfamily A Member 1	Protein Coding	2
76	CYP3A4	Cytochrome P450 Family 3 Subfamily A Member 4	Protein Coding	2
77	CYP2B6	Cytochrome P450 Family 2 Subfamily B Member 6	Protein Coding	2
78	MAPK14	Mitogen-Activated Protein Kinase 14	Protein Coding	2
79	CRK	CRK Proto-Oncogene, Adaptor Protein	Protein Coding	2
80	MAP3K8	Mitogen-Activated Protein Kinase Kinase Kinase 8	Protein Coding	2
81	CAP1	Cyclase Associated Actin Cytoskeleton Regulatory Protein 1	Protein Coding	2
82	FLOT1	Flotillin 1	Protein Coding	2
83	NR1H3	Nuclear Receptor Subfamily 1 Group H Member 3	Protein Coding	2
84	MAP3K6	Mitogen-Activated Protein Kinase Kinase Kinase 6	Protein Coding	2
85	MAP3K14	Mitogen-Activated Protein Kinase Kinase Kinase 14	Protein Coding	2
86	RPS6KA4	Ribosomal Protein S6 Kinase A4	Protein Coding	2
87	PIK3R3	Phosphoinositide-3-Kinase Regulatory Subunit 3	Protein Coding	2
88	MAP4K3	Mitogen-Activated Protein Kinase Kinase Kinase Kinase 3	Protein Coding	2
89	MAP4K1	Mitogen-Activated Protein Kinase Kinase Kinase Kinase 1	Protein Coding	2
90	MAP4K5	Mitogen-Activated Protein Kinase Kinase Kinase Kinase 5	Protein Coding	2
91	MAP3K2	Mitogen-Activated Protein Kinase Kinase Kinase 2	Protein Coding	2
92	MAP3K12	Mitogen-Activated Protein Kinase Kinase Kinase 12	Protein Coding	2
93	MAP2K4	Mitogen-Activated Protein Kinase Kinase 4	Protein Coding	2
94	MAPK12	Mitogen-Activated Protein Kinase 12	Protein Coding	2
95	MAP4K2	Mitogen-Activated Protein Kinase Kinase Kinase Kinase 2	Protein Coding	2
96	MAPK4	Mitogen-Activated Protein Kinase 4	Protein Coding	2
97	SHC3	SHC Adaptor Protein 3	Protein Coding	2
98	MINK1	Misshapen Like Kinase 1	Protein Coding	2
99	MAP3K11	Mitogen-Activated Protein Kinase Kinase Kinase 11	Protein Coding	2
100	MAP3K10	Mitogen-Activated Protein Kinase Kinase Kinase 10	Protein Coding	2
101	MAP3K13	Mitogen-Activated Protein Kinase Kinase Kinase 13	Protein Coding	2
102	PIK3R4	Phosphoinositide-3-Kinase Regulatory Subunit 4	Protein Coding	2
103	RAPGEF1	Rap Guanine Nucleotide Exchange Factor 1	Protein Coding	2
104	RPS6KA6	Ribosomal Protein S6 Kinase A6	Protein Coding	2
105	SHC2	SHC Adaptor Protein 2	Protein Coding	2
106	CBLC	Cbl Proto-Oncogene C	Protein Coding	2
107	FLOT2	Flotillin 2	Protein Coding	2
108	THRB	Thyroid Hormone Receptor Beta	Protein Coding	1
109	THRA	Thyroid Hormone Receptor Alpha	Protein Coding	1
110	SREBF2	Sterol Regulatory Element Binding Transcription Factor 2	Protein Coding	1
111	SLC16A2	Solute Carrier Family 16 Member 2	Protein Coding	1
112	RPTOR	Regulatory Associated Protein Of MTOR Complex 1	Protein Coding	1
113	PRKAB1	Protein Kinase AMP-Activated Non-Catalytic Subunit Beta 1	Protein Coding	1
114	SLCO1C1	Solute Carrier Organic Anion Transporter Family Member 1C1	Protein Coding	1
115	PRKAG3	Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 3	Protein Coding	1
116	PRKAG2	Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2	Protein Coding	1
117	MLXIPL	MLX Interacting Protein Like	Protein Coding	1
118	PCK1	Phosphoenolpyruvate Carboxykinase 1	Protein Coding	1
119	LPL	Lipoprotein Lipase	Protein Coding	1
120	G6PC1	Glucose-6-Phosphatase Catalytic Subunit 1	Protein Coding	1
121	FBP1	Fructose-Bisphosphatase 1	Protein Coding	1
122	DIO2	Iodothyronine Deiodinase 2	Protein Coding	1
123	SESN3	Sestrin 3	Protein Coding	1
124	TRIP10	Thyroid Hormone Receptor Interactor 10	Protein Coding	1
125	MAPKAP1	MAPK Associated Protein 1	Protein Coding	1
126	MLST8	MTOR Associated Protein MLST8	Protein Coding	1
127	ANGPTL8	Angiopoietin Like 8	Protein Coding	1
128	PRKAG1	Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 1	Protein Coding	1
129	PRKAB2	Protein Kinase AMP-Activated Non-Catalytic Subunit Beta 2	Protein Coding	1
130	RICTOR	RPTOR Independent Companion Of MTOR Complex 2	Protein Coding	1
131	EXOC7	Exocyst Complex Component 7	Protein Coding	1
132	RAB4A	RAB4A, Member RAS Oncogene Family	Protein Coding	1
133	PFKL	Phosphofructokinase, Liver Type	Protein Coding	1
134	ARF6	ARF GTPase 6	Protein Coding	1
135	EHD2	EH Domain Containing 2	Protein Coding	1
136	TBC1D4	TBC1 Domain Family Member 4	Protein Coding	1
137	SOCS3	Suppressor Of Cytokine Signaling 3	Protein Coding	1
138	SNAP23	Synaptosome Associated Protein 23	Protein Coding	1
139	SOCS1	Suppressor Of Cytokine Signaling 1	Protein Coding	1
140	XBP1	X-Box Binding Protein 1	Protein Coding	1
141	STXBP2	Syntaxin Binding Protein 2	Protein Coding	1
142	STXBP1	Syntaxin Binding Protein 1	Protein Coding	1
143	SRF	Serum Response Factor	Protein Coding	1
144	SNAP25	Synaptosome Associated Protein 25	Protein Coding	1
145	SGK1	Serum/Glucocorticoid Regulated Kinase 1	Protein Coding	1
146	RRAD	RRAD, Ras Related Glycolysis Inhibitor And Calcium Channel Regulator	Protein Coding	1
147	RAC2	Rac Family Small GTPase 2	Protein Coding	1
148	RAC1	Rac Family Small GTPase 1	Protein Coding	1
149	PTPRF	Protein Tyrosine Phosphatase Receptor Type F	Protein Coding	1
150	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	1
151	TRIB3	Tribbles Pseudokinase 3	Protein Coding	1
152	RHOJ	Ras Homolog Family Member J	Protein Coding	1
153	PTEN	Phosphatase And Tensin Homolog	Protein Coding	1
154	PRKCZ	Protein Kinase C Zeta	Protein Coding	1
155	PRKCQ	Protein Kinase C Theta	Protein Coding	1
156	PRKCI	Protein Kinase C Iota	Protein Coding	1
157	PRKCH	Protein Kinase C Eta	Protein Coding	1
158	PRKCD	Protein Kinase C Delta	Protein Coding	1
159	PRKCB	Protein Kinase C Beta	Protein Coding	1
160	PRKCA	Protein Kinase C Alpha	Protein Coding	1
161	PPP1R3A	Protein Phosphatase 1 Regulatory Subunit 3A	Protein Coding	1
162	PFKM	Phosphofructokinase, Muscle	Protein Coding	1
163	ENPP1	Ectonucleotide Pyrophosphatase/Phosphodiesterase 1	Protein Coding	1
164	MYO1C	Myosin IC	Protein Coding	1
165	LIPE	Lipase E, Hormone Sensitive Type	Protein Coding	1
166	KIF5B	Kinesin Family Member 5B	Protein Coding	1
167	ARF1	ARF GTPase 1	Protein Coding	1
168	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
169	INPPL1	Inositol Polyphosphate Phosphatase Like 1	Protein Coding	1
170	INPP4A	Inositol Polyphosphate-4-Phosphatase Type I A	Protein Coding	1
171	IKBKB	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta	Protein Coding	1
172	IGF1R	Insulin Like Growth Factor 1 Receptor	Protein Coding	1
173	GYS2	Glycogen Synthase 2	Protein Coding	1
174	GYG1	Glycogenin 1	Protein Coding	1
175	GRB14	Growth Factor Receptor Bound Protein 14	Protein Coding	1
176	GAB1	GRB2 Associated Binding Protein 1	Protein Coding	1
177	STXBP4	Syntaxin Binding Protein 4	Protein Coding	1
178	FOS	Fos Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
179	EGR1	Early Growth Response 1	Protein Coding	1
180	KIF3A	Kinesin Family Member 3A	Protein Coding	1
181	EHD1	EH Domain Containing 1	Protein Coding	1
182	SGK2	Serum/Glucocorticoid Regulated Kinase 2	Protein Coding	1
183	CYTH3	Cytohesin 3	Protein Coding	1
184	ARHGAP33	Rho GTPase Activating Protein 33	Protein Coding	1
185	SH2B2	SH2B Adaptor Protein 2	Protein Coding	1
186	SORBS1	Sorbin And SH3 Domain Containing 1	Protein Coding	1
187	VAMP2	Vesicle Associated Membrane Protein 2	Protein Coding	1
188	STXBP3	Syntaxin Binding Protein 3	Protein Coding	1
189	STX4	Syntaxin 4	Protein Coding	1
190	REG1A	Regenerating Family Member 1 Alpha	Protein Coding	1
191	GRB10	Growth Factor Receptor Bound Protein 10	Protein Coding	1
192	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	1
193	SGK3	Serum/Glucocorticoid Regulated Kinase Family Member 3	Protein Coding	1
194	ELK1	ETS Transcription Factor ELK1	Protein Coding	1

Disorders associated with Angiopoietin-like protein 8 regulatory pathway SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Noonan syndrome 1	Enrichment	CBL, HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1, SOS2	9.79
2	Noonan syndrome and noonan-related syndrome	Enrichment	CBL, HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1	9.73
3	Rasopathy	Enrichment	CBL, HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1, SOS2	9.40
4	Type 2 diabetes mellitus	Enrichment	AKT2, ENPP1, INSR, IRS1, IRS2, PPP1R3A, PTPN1, SLC2A4, TBC1D4	8.95
5	Focal cortical dysplasia, type ii	Enrichment	MTOR, RHEB, TSC1, TSC2	8.08
6	Isolated focal cortical dysplasia type ii	Enrichment	MTOR, RHEB, TSC1, TSC2	8.08
7	Hemimegalencephaly	Enrichment	MTOR, PIK3CA, PTEN, RHEB	7.03
8	Gallbladder disease 4	Enrichment	ABCG5, ABCG8	6.31
9	Noonan syndrome 3	Enrichment	HRAS, PTPN11, RAF1, SOS1	6.20
10	Sitosterolemia 1	Enrichment	ABCG5, ABCG8	5.83
11	Sitosterolemia	Enrichment	ABCG5, ABCG8	5.83
12	Glycogen storage disease	Enrichment	GYG1, GYS1, GYS2, PFKM	5.24
13	Lipid metabolism disorder	Enrichment	ABCG5, ABCG8	5.14
14	Homozygous familial hypercholesterolemia	Enrichment	ABCG5, ABCG8	4.86
15	Coronary heart disease 5	Enrichment	ABCG5, ABCG8	4.76
16	Arteriovenous malformation	Enrichment	HRAS, MAP2K1, PIK3CA	4.15
17	Adult hepatocellular carcinoma	Enrichment	PIK3CA, TSC1, TSC2	4.15
18	Lymphangioleiomyomatosis	Enrichment	TSC1, TSC2	4.03
19	Myopathy, x-linked, with excessive autophagy	Enrichment	HRAS, MAP2K1, PIK3CA	4.00
20	Cowden syndrome	Enrichment	AKT1, PIK3CA, PTEN	3.89
21	Lung non-small cell carcinoma	Enrichment	HRAS, MAP2K1, PIK3CA	3.86
22	Specific learning disability	Enrichment	MAPK1, PTPN11, RPS6KA3	3.61
23	Tuberous sclerosis 1	Enrichment	TSC1, TSC2	3.56
24	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3CA, PIK3R1	3.56
25	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3CD, PIK3R1	3.56
26	Hamartoma	Enrichment	TSC1, TSC2	3.56
27	Immunodeficiency 14	Enrichment	PIK3CD, PIK3R1	3.56
28	Meningioma	Enrichment	AKT1, PIK3CA, PTEN	3.48
29	Bladder cancer	Enrichment	HRAS, PIK3CA, PTEN, TSC1	3.45
30	Cardiofaciocutaneous syndrome 1	Enrichment	MAP2K1, MAP2K2	3.26
31	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	PIK3CA, PIK3R2	3.26
32	Cardiofaciocutaneous syndrome	Enrichment	MAP2K1, MAP2K2	3.26
33	Tuberous sclerosis	Enrichment	TSC1, TSC2	3.26
34	Microcephaly	Enrichment	IGF1R, INPP4A, MAPK1, PTPN11, SLC2A1, SNAP25, STXBP1	3.20
35	Mucoepithelial dysplasia, hereditary	Enrichment	SREBF1	3.13
36	Ifap syndrome 2	Enrichment	SREBF1	3.13
37	Efavirenz, poor metabolism of	Enrichment	CYP2B6	3.13
38	Vitamin d-dependent rickets, type 3	Enrichment	CYP3A4	3.13
39	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	Enrichment	CYP7A1	3.13
40	Rhabdomyosarcoma	Enrichment	CBL, HRAS, PTEN	3.09
41	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	CBL, PTPN11	3.09
42	Noonan syndrome with multiple lentigines	Enrichment	PTPN11, RAF1	3.09
43	Breast adenocarcinoma	Enrichment	AKT1, PIK3CA	2.87
44	Diffuse large b-cell lymphoma	Enrichment	FOXO1, PTEN, SOCS1	2.87
45	Sitosterolemia 2	Enrichment	ABCG5	2.83
46	Short-rib thoracic dysplasia 15 with polydactyly	Enrichment	ABCG5	2.83
47	Nevus, epidermal	Enrichment	HRAS, PIK3CA	2.73
48	Capillary malformation-arteriovenous malformation 1	Enrichment	MAP2K1, PIK3CA	2.73
49	Overgrowth syndrome	Enrichment	MTOR, PIK3R1	2.73
50	Breast cancer	Enrichment	AKT1, JUN, PIK3CA, PTEN, SHC1	2.72
51	Cowden syndrome 1	Enrichment	PIK3CA, PTEN	2.70
52	Ifap syndrome 1, with or without bresheck syndrome	Enrichment	SREBF1	2.66
53	Melanocytic nevus syndrome, congenital	Enrichment	HRAS, RAF1	2.60
54	Thyroid cancer, nonmedullary, 2	Enrichment	HRAS, PTEN	2.55
55	Follicular thyroid carcinoma	Enrichment	HRAS, PTEN	2.55
56	Strabismus	Enrichment	PTPN11, SLC2A1, STXBP1	2.42
57	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3CD, PIK3R1	2.40
58	Lip and oral cavity carcinoma	Enrichment	HRAS, PIK3CA	2.24
59	Ovarian cancer	Enrichment	AKT1, MAP3K1, PIK3CA, PTEN, TSC2	2.16
60	Pectus excavatum	Enrichment	INPP4A, PTPN11	2.15
61	46,xy partial gonadal dysgenesis	Enrichment	MAP3K1, SOS1	2.11
62	Juvenile myelomonocytic leukemia	Enrichment	CBL, PTPN11	2.07
63	Autism spectrum disorder	Enrichment	MAP2K1, PTEN, PTPN11, STXBP1, TSC2	2.03
64	Macrodactyly	Enrichment	PIK3CA	2.02
65	Proteus syndrome	Enrichment	AKT1	2.02
66	Cardiospondylocarpofacial syndrome	Enrichment	MAP3K7	2.02
67	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	2.02
68	Donohue syndrome	Enrichment	INSR	2.02
69	Hypothyroidism, congenital, nongoitrous, 9	Enrichment	IRS4	2.02
70	Coffin-lowry syndrome	Enrichment	RPS6KA3	2.02
71	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Enrichment	PCK1	2.02
72	Fructose-1,6-bisphosphatase deficiency	Enrichment	FBP1	2.02
73	Hyperinsulinemic hypoglycemia, familial, 5	Enrichment	INSR	2.02
74	Noonan syndrome 5	Enrichment	RAF1	2.02
75	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	Enrichment	INSR	2.02
76	Diabetes mellitus, insulin-resistant, with acanthosis nigricans	Enrichment	INSR	2.02
77	Noonan syndrome 4	Enrichment	SOS1	2.02
78	Stomatin-deficient cryohydrocytosis with neurologic defects	Enrichment	SLC2A1	2.02
79	Melorheostosis, isolated	Enrichment	MAP2K1	2.02
80	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	2.02
81	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	2.02
82	Cowden syndrome 5	Enrichment	PIK3CA	2.02
83	Cardiofaciocutaneous syndrome 3	Enrichment	MAP2K1	2.02
84	Noonan syndrome 9	Enrichment	SOS2	2.02
85	46,xy sex reversal 6	Enrichment	MAP3K1	2.02
86	Frontometaphyseal dysplasia 2	Enrichment	MAP3K7	2.02
87	Cerebral cavernous malformations 4	Enrichment	PIK3CA	2.02
88	Noonan syndrome 13	Enrichment	MAPK1	2.02
89	Short syndrome	Enrichment	PIK3R1	2.02
90	Allan-herndon-dudley syndrome	Enrichment	SLC16A2	2.02
91	Oculoskeletodental syndrome	Enrichment	PIK3C2A	2.02
92	Autism 19	Enrichment	EIF4E	2.02
93	Intellectual developmental disorder, x-linked 19	Enrichment	RPS6KA3	2.02
94	Cardiomyopathy, familial hypertrophic, 6	Enrichment	PRKAG2	2.02
95	Glycogen storage disease of heart, lethal congenital	Enrichment	PRKAG2	2.02
96	Hemifacial myohyperplasia	Enrichment	PIK3CA	2.02
97	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	Enrichment	PIK3CA	2.02
98	Melorheostosis	Enrichment	MAP2K1	2.02
99	Leopard syndrome 2	Enrichment	RAF1	2.02
100	Epilepsy, idiopathic generalized 12	Enrichment	SLC2A1	2.02
101	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	2.02
102	Cardiofaciocutaneous syndrome 4	Enrichment	MAP2K2	2.02
103	Cowden syndrome 6	Enrichment	AKT1	2.02
104	Immunodeficiency 14b, autosomal recessive	Enrichment	PIK3CD	2.02
105	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	2.02
106	Immunodeficiency 97 with autoinflammation	Enrichment	PIK3CG	2.02
107	Skeletal muscle glycogen content and metabolism quantitative trait locus	Enrichment	PRKAG3	2.02
108	Neurodevelopmental disorder with seizures and brain atrophy	Enrichment	EXOC7	2.02
109	Trigonitis	Enrichment	RAF1	2.02
110	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	2.02
111	Symptomatic form of coffin-lowry syndrome in female carriers	Enrichment	RPS6KA3	2.02
112	Hypospadias	Enrichment	PIK3CA	2.02
113	Immunodeficiency 112	Enrichment	MAP3K14	2.02
114	Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha	Enrichment	THRA	2.02
115	Cerebral cavernous malformations 5	Enrichment	MAP3K3	2.02
116	Rare venous malformation	Enrichment	PIK3CA	2.02
117	Diaphragmatic eventration	Enrichment	PIK3CA	2.02
118	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	2.02
119	Epilepsy with myoclonic absences	Enrichment	SLC2A1	2.02
120	Rare combined vascular malformation	Enrichment	PIK3CA	2.02
121	Cavernous lymphangioma	Enrichment	PIK3CA	2.02
122	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	2.02
123	Oculocerebrodental syndrome	Enrichment	PIK3C2A	2.02
124	Phakomatosis pigmentokeratotica	Enrichment	HRAS	2.02
125	Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta	Enrichment	THRB	2.02
126	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	2.02
127	Verrucous hemangioma	Enrichment	MAP3K3	2.02
128	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	2.02
129	Generalized resistance to thyroid hormone	Enrichment	THRB	2.02
130	Macrodactyly of toe	Enrichment	PIK3CA	2.02
131	Hereditary cryohydrocytosis with reduced stomatin	Enrichment	SLC2A1	2.02
132	Nik deficiency	Enrichment	MAP3K14	2.02
133	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	2.02
134	Nk-cell enteropathy	Enrichment	IGF1R, PIK3CB	2.00
135	Multiple sclerosis	Enrichment	NR1H3	1.99
136	Metachondromatosis	Enrichment	PTPN11	1.93
137	Vacterl association with hydrocephalus	Enrichment	PTEN	1.93
138	Deafness, autosomal recessive 26	Enrichment	GAB1	1.93
139	Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis	Enrichment	RAC2	1.93
140	Dermatitis, atopic, 4	Enrichment	SOCS3	1.93
141	Breasts and/or nipples, aplasia or hypoplasia of, 1	Enrichment	PTPRF	1.93
142	Leopard syndrome 1	Enrichment	PTPN11	1.93
143	Type 2 diabetes 5	Enrichment	TBC1D4	1.93
144	Autoimmune lymphoproliferative syndrome, type iii	Enrichment	PRKCD	1.93
145	Arterial calcification, generalized, of infancy, 1	Enrichment	ENPP1	1.93
146	Immunodeficiency 15b	Enrichment	IKBKB	1.93
147	Breasts and/or nipples, aplasia or hypoplasia of, 2	Enrichment	PTPRF	1.93
148	Developmental and epileptic encephalopathy 117	Enrichment	SNAP25	1.93
149	Immunodeficiency 15a	Enrichment	IKBKB	1.93
150	Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	Enrichment	RAC2	1.93
151	Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech	Enrichment	INPP4A	1.93
152	Papillary tumor of the pineal region	Enrichment	PTEN	1.93
153	Major affective disorder 7	Enrichment	XBP1	1.93
154	Ossification of the posterior longitudinal ligament of spine	Enrichment	ENPP1	1.93
155	Familial hemophagocytic lymphohistiocytosis 5	Enrichment	STXBP2	1.93
156	Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease	Enrichment	STXBP2	1.93
157	Hypophosphatemic rickets, autosomal recessive, 2	Enrichment	ENPP1	1.93
158	Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements	Enrichment	VAMP2	1.93
159	Deafness, autosomal recessive 123	Enrichment	STX4	1.93
160	Cole disease	Enrichment	ENPP1	1.93
161	Epilepsy with generalized tonic-clonic seizures	Enrichment	SNAP25	1.93
162	Glioma susceptibility 2	Enrichment	PTEN	1.93
163	Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	Enrichment	RAC2	1.93
164	Infantile lad-like disease due to rac2 deficiency	Enrichment	RAC2	1.93
165	Reticular dysgenesis-like severe combined immunodeficiency	Enrichment	RAC2	1.93
166	Hypopigmentation-punctate palmoplantar keratoderma syndrome	Enrichment	ENPP1	1.93
167	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Enrichment	PTEN	1.93
168	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	1.93
169	Silver-russell syndrome due to maternal uniparental disomy of chromosome 7	Enrichment	GRB10	1.93
170	Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome	Enrichment	RAC2	1.93
171	Malignant astrocytoma	Enrichment	PTPN11	1.93
172	West syndrome	Enrichment	SLC2A1, STXBP1, TSC2	1.82
173	Hereditary breast carcinoma	Enrichment	AKT1, PIK3CA, PTEN	1.82
174	Thyroid hormone resistance, selective pituitary	Enrichment	THRB	1.72
175	Fibromatosis, gingival, 1	Enrichment	SOS1	1.72
176	Scoliosis, isolated 1	Enrichment	MAPK7	1.72
177	Costello syndrome	Enrichment	HRAS	1.72
178	Hyperlipoproteinemia, type i	Enrichment	LPL	1.72
179	Thyroid hormone resistance, generalized, autosomal dominant	Enrichment	THRB	1.72
180	Dystonia 9	Enrichment	SLC2A1	1.72
181	Ovarian germ cell cancer	Enrichment	CBL	1.72
182	Thyroid hormone resistance, generalized, autosomal recessive	Enrichment	THRB	1.72
183	Pulmonic stenosis	Enrichment	SOS1	1.72
184	Hyperinsulinemic hypoglycemia, familial, 4	Enrichment	INSR	1.72
185	Glut1 deficiency syndrome 1	Enrichment	SLC2A1	1.72
186	Keratosis, seborrheic	Enrichment	PIK3CA	1.72
187	Roifman-chitayat syndrome	Enrichment	PIK3CD	1.72
188	Lipase deficiency, combined	Enrichment	LPL	1.72
189	Noonan syndrome 8	Enrichment	PIK3CA	1.72
190	Spermatogenic failure 17	Enrichment	PIK3C2G	1.72
191	Hypothyroidism, congenital, nongoitrous, 6	Enrichment	THRA	1.72
192	Cebalid syndrome	Enrichment	MTOR	1.72
193	Autoimmune disease, multisystem, infantile-onset, 3	Enrichment	CBLB	1.72
194	Thyroid hormone resistance syndrome	Enrichment	THRB	1.72
195	Glucose transporter type 1 deficiency syndrome	Enrichment	SLC2A1	1.72
196	Glycogen storage disease 0, muscle	Enrichment	GYS1	1.72
197	Rosette-forming glioneuronal tumor	Enrichment	PIK3CA	1.72
198	Familial lipoprotein lipase deficiency	Enrichment	LPL	1.72
199	Immune system disease	Enrichment	PIK3CD	1.72
200	Smith-kingsmore syndrome	Enrichment	MTOR	1.72
201	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	Enrichment	GYS1	1.72
202	Malignant germ cell tumor of ovary	Enrichment	CBL	1.72
203	Tafro syndrome	Enrichment	MAP2K2	1.72
204	Wooly hair nevus	Enrichment	HRAS	1.72
205	Colorectal cancer	Enrichment	AKT1, PIK3CA, PIK3R1, SGK2	1.71
206	Inherited cancer-predisposing syndrome	Enrichment	MAP4K2, PTEN, PTPN11, TSC1, TSC2	1.70
207	Hirschsprung disease 1	Enrichment	SREBF1	1.67
208	Glycogen storage disease 0, liver	Enrichment	GYS2	1.63
209	Glycogen storage disease vii	Enrichment	PFKM	1.63
210	Schneckenbecken dysplasia	Enrichment	INPPL1	1.63
211	Glycogen storage disease xv	Enrichment	GYG1	1.63
212	Polyglucosan body myopathy 2	Enrichment	GYG1	1.63
213	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	1.63
214	Periventricular nodular heterotopia 8	Enrichment	ARF1	1.63
215	Werner syndrome	Enrichment	PTPN11	1.63
216	Autosomal recessive hypophosphatemic rickets	Enrichment	ENPP1	1.63
217	Mitochondrial complex iv deficiency, nuclear type 12	Enrichment	STXBP2	1.63
218	9q33.3q34.11 microdeletion syndrome	Enrichment	STXBP1	1.63
219	Dystonia 28, childhood-onset	Enrichment	ENPP1	1.63
220	Glycogen storage disorder due to hepatic glycogen synthase deficiency	Enrichment	GYS2	1.63
221	Arterial calcification of infancy	Enrichment	ENPP1	1.63
222	Vacterl with hydrocephalus	Enrichment	PTEN	1.63
223	Skeletal muscle disease	Enrichment	KIF5B	1.63
224	Juvenile polyposis of infancy	Enrichment	PTEN	1.63
225	Short-rib thoracic dysplasia 1 with or without polydactyly	Enrichment	ABCG5	1.62
226	Endometrial cancer	Enrichment	PIK3CA, PTEN	1.60
227	Pompe disease, infantile-onset	Enrichment	PIK3CA	1.54
228	Polycystic kidney disease, infantile severe, with tuberous sclerosis	Enrichment	TSC2	1.54
229	Nuchal bleb, familial	Enrichment	SOS1	1.54
230	Langerhans cell histiocytosis	Enrichment	MAP2K1	1.54
231	Glut1 deficiency syndrome 2	Enrichment	SLC2A1	1.54
232	Tuberous sclerosis 2	Enrichment	TSC2	1.54
233	Anus, imperforate	Enrichment	MAP4K4	1.54
234	Large congenital melanocytic nevus	Enrichment	HRAS	1.54
235	Chromosome 17q23.1-q23.2 deletion syndrome	Enrichment	SLC2A1	1.54
236	Xanthinuria, type ii	Enrichment	TSC2	1.54
237	Frontometaphyseal dysplasia	Enrichment	MAP3K7	1.54
238	Spermatocytoma	Enrichment	HRAS	1.54
239	Phosphoenolpyruvate carboxykinase deficiency	Enrichment	PCK1	1.54
240	Keratoacanthoma	Enrichment	PIK3CA	1.54
241	Immune thrombocytopenia	Enrichment	SOCS1	1.46
242	Opsismodysplasia	Enrichment	INPPL1	1.46
243	Lipodystrophy, familial partial, type 6	Enrichment	LIPE	1.46
244	Autoinflammatory syndrome, familial, with or without immunodeficiency	Enrichment	SOCS1	1.46
245	Laryngeal squamous cell carcinoma	Enrichment	PTEN	1.46
246	Growth delay due to insulin-like growth factor i resistance	Enrichment	IGF1R	1.46
247	Tricuspid valve insufficiency	Enrichment	PTPN11	1.46
248	Hydrops fetalis, nonimmune	Enrichment	HRAS, PTPN11	1.43
249	Lung cancer	Enrichment	MAP3K8, PIK3CA	1.42
250	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS	1.42
251	Diffuse gastric and lobular breast cancer syndrome	Enrichment	MAP3K6	1.42
252	Glycogen storage disease ia	Enrichment	G6PC1	1.42
253	Neurofibromatosis-noonan syndrome	Enrichment	MAP2K2	1.42
254	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.42
255	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	PIK3R2	1.42
256	Cerebrovascular disease	Enrichment	PIK3CA	1.42
257	Epidermolytic nevus	Enrichment	HRAS	1.42
258	Familial cerebral cavernous malformations	Enrichment	PIK3CA	1.42
259	Coronary artery anomaly	Enrichment	LPL	1.42
260	Gingival fibromatosis	Enrichment	SOS1	1.42
261	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	SOS2	1.42
262	Familial hypertrophic cardiomyopathy	Enrichment	PRKAG2, RAF1	1.40
263	Myeloma, multiple	Enrichment	RXRA	1.39
264	Prostate cancer	Enrichment	PIK3CA, PTEN	1.34
265	Anemia, autoimmune hemolytic	Enrichment	SOCS1	1.33
266	Developmental and epileptic encephalopathy 2	Enrichment	SNAP25	1.33
267	Developmental and epileptic encephalopathy 4	Enrichment	STXBP1	1.33
268	Congenital generalized lipodystrophy	Enrichment	FOS	1.33
269	Glioma	Enrichment	PTEN	1.33
270	Capillary malformations, congenital	Enrichment	PIK3CA	1.32
271	Hyperlipidemia, familial combined, 3	Enrichment	LPL	1.32
272	Rhabdomyosarcoma 2	Enrichment	FOXO1	1.32
273	Myasthenic syndrome, congenital, 4a, slow-channel	Enrichment	MINK1	1.32
274	Myasthenic syndrome, congenital, 4b, fast-channel	Enrichment	MINK1	1.32
275	Myeloproliferative neoplasm	Enrichment	CBL	1.32
276	Hypoglycemia	Enrichment	G6PC1	1.32
277	Aggressive systemic mastocytosis	Enrichment	CBL	1.32
278	Non-immune hydrops fetalis	Enrichment	HRAS, PTPN11	1.29
279	Klippel-trenaunay-weber syndrome	Enrichment	PIK3CA	1.25
280	Hemihyperplasia, isolated	Enrichment	PIK3CA	1.25
281	Keratoconus	Enrichment	TSC1	1.25
282	Lung squamous cell carcinoma	Enrichment	PIK3CA	1.25
283	46,xy disorder of sex development	Enrichment	INSR	1.25
284	Kearns-sayre syndrome	Enrichment	KIF5B	1.24
285	Macrocephaly/autism syndrome	Enrichment	PTEN	1.24
286	Insulin-like growth factor i	Enrichment	IGF1R	1.24
287	Hemophagocytic lymphohistiocytosis, familial, 1	Enrichment	STXBP2	1.24
288	Lymphoma	Enrichment	PTPN11	1.24
289	Hemangioma	Enrichment	PTEN	1.24
290	Histiocytoid hemangioma	Enrichment	FOS	1.24
291	Acute megakaryocytic leukemia	Enrichment	PTEN	1.24
292	Polycystic kidney disease 1 with or without polycystic liver disease	Enrichment	TSC2	1.18
293	Multiple endocrine neoplasia, type i	Enrichment	MAP4K2	1.18
294	Myasthenic syndrome, congenital, 1a, slow-channel	Enrichment	MINK1	1.18
295	Renal cell carcinoma, papillary, 1	Enrichment	MTOR	1.18
296	Polycystic kidney disease 1	Enrichment	TSC2	1.18
297	Gallbladder cancer	Enrichment	PIK3CA	1.18
298	Pilomyxoid astrocytoma	Enrichment	RAF1	1.18
299	Paroxysmal dystonia	Enrichment	SLC2A1	1.18
300	Developmental and epileptic encephalopathy	Enrichment	SNAP25, STXBP1	1.17
301	Dyskeratosis congenita, autosomal dominant 1	Enrichment	INPP4A	1.16
302	Pseudoxanthoma elasticum	Enrichment	ENPP1	1.16
303	Patent ductus arteriosus	Enrichment	PTPN11	1.16
304	Gastroesophageal reflux	Enrichment	RPS6KA3	1.13
305	Renal hypodysplasia/aplasia 1	Enrichment	MAP4K4	1.13
306	Orthostatic intolerance	Enrichment	RPS6KA3	1.13
307	Lennox-gastaut syndrome	Enrichment	MAPK10	1.13
308	Alternating hemiplegia of childhood	Enrichment	SLC2A1	1.13
309	Squamous cell carcinoma, head and neck	Enrichment	PTEN	1.10
310	Dyskeratosis congenita, autosomal dominant 2	Enrichment	INPP4A	1.10
311	Focal epilepsy	Enrichment	SNAP25	1.10
312	Hypophosphatemic rickets	Enrichment	ENPP1	1.10
313	Myoclonic-atonic epilepsy	Enrichment	SLC2A1	1.08
314	Ventricular septal defect	Enrichment	RPS6KA3	1.08
315	Hypertelorism	Enrichment	PIK3CA, RPS6KA3	1.05
316	Gastric cancer	Enrichment	PIK3CA, PTEN	1.04
317	Hypertrophic cardiomyopathy	Enrichment	KIF5B, PTPN11	1.04
318	Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency	Enrichment	MINK1	1.03
319	46,xy complete gonadal dysgenesis	Enrichment	MAP3K1	0.99
320	Inflammatory bowel disease 1	Enrichment	PRKCQ	0.99
321	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	RAC1	0.99
322	Stroke, ischemic	Enrichment	PRKCH	0.95
323	Melanoma	Enrichment	PTEN	0.95
324	Aortic valve disease 1	Enrichment	SOS1	0.93
325	Meningioma, familial	Enrichment	PTEN	0.91
326	Uterine corpus cancer	Enrichment	PTEN	0.91
327	Presynaptic congenital myasthenic syndromes	Enrichment	SNAP25	0.91
328	Congenital myasthenic syndrome	Enrichment	MINK1	0.90
329	Epicanthus	Enrichment	PTPN11	0.88
330	Congenital long qt syndrome	Enrichment	PTPN11	0.88
331	Renal cell carcinoma, nonpapillary	Enrichment	MTOR	0.87
332	Lynch syndrome	Enrichment	PIK3CA	0.87
333	Autosomal dominant polycystic kidney disease	Enrichment	TSC2	0.87
334	Kidney disease	Enrichment	TSC1	0.87
335	Rare genetic intellectual disability	Enrichment	MTOR	0.87
336	Chromosome 1p36 deletion syndrome	Enrichment	PRKCZ	0.84
337	Stereotypic movement disorder	Enrichment	SNAP25	0.84
338	Wolff-parkinson-white syndrome	Enrichment	PRKAG2	0.84
339	Periventricular nodular heterotopia	Enrichment	ARF1	0.81
340	Heart, malformation of	Enrichment	MAPK1	0.79
341	Arteriovenous malformations of the brain	Enrichment	MAP4K4	0.77
342	Cardiomyopathy, dilated, 1a	Enrichment	LPL	0.73
343	Hepatocellular carcinoma	Enrichment	PIK3CA	0.72
344	Patent foramen ovale	Enrichment	PTPN11	0.72
345	Cardiomyopathy, familial hypertrophic, 1	Enrichment	RAF1	0.68
346	Developmental and epileptic encephalopathy 1	Enrichment	SLC2A1	0.67
347	Attention deficit-hyperactivity disorder	Enrichment	KIF5B	0.64
348	Mitochondrial complex iv deficiency, nuclear type 1	Enrichment	STXBP2	0.64
349	Dilated cardiomyopathy	Enrichment	KIF5B, RAF1	0.61
350	Differentiated thyroid carcinoma	Enrichment	HRAS	0.61
351	Autoinflammatory disease	Enrichment	STXBP2	0.61
352	Scoliosis	Enrichment	PTPN11	0.61
353	Left ventricular noncompaction	Enrichment	RAF1	0.54
354	Non-syndromic x-linked intellectual disability	Enrichment	RPS6KA3	0.53
355	Long qt syndrome 1	Enrichment	PTPN11	0.52
356	Epilepsy	Enrichment	SLC2A1	0.49
357	Severe combined immunodeficiency	Enrichment	IKBKB	0.49
358	Benign epilepsy with centrotemporal spikes	Enrichment	SLC2A1	0.48
359	Hereditary spastic paraplegia	Enrichment	SLC16A2	0.47
360	Centralopathic epilepsy	Enrichment	SLC2A1	0.47
361	Congenital nervous system abnormality	Enrichment	PTEN, TSC2	0.45
362	Nervous system disease	Enrichment	PTEN, TSC2	0.45
363	Systemic lupus erythematosus	Enrichment	SOCS1	0.43
364	Familial isolated dilated cardiomyopathy	Enrichment	RAF1	0.40
365	Optic atrophy plus syndrome	Enrichment	SNAP25	0.39
366	Sensorineural hearing loss	Enrichment	STX4	0.36
367	Thrombocytopenia	Enrichment	PTPN11	0.36
368	Primary ovarian insufficiency	Enrichment	RICTOR	0.36
369	Body mass index quantitative trait locus 11	Enrichment	ENPP1	0.35
370	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	MYO1C	0.34
371	Spastic ataxia	Enrichment	STXBP1	0.33
372	Hereditary breast ovarian cancer syndrome	Enrichment	PTEN	0.32
373	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	PTPN11	0.31
374	Autism	Enrichment	STXBP1	0.24

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

Angiopoietin-like protein 8 regulatory pathway

Pathway Network for Angiopoietin-like protein 8 regulatory pathway

Pathway network for the Angiopoietin-like protein 8 regulatory pathway SuperPath

Member Pathways for Angiopoietin-like protein 8 regulatory pathway

Pathways in the Angiopoietin-like protein 8 regulatory pathway SuperPath

Gene overlap in member pathways for Angiopoietin-like protein 8 regulatory pathway SuperPath

Associated Genes for Angiopoietin-like protein 8 regulatory pathway

Associated Disorders for Angiopoietin-like protein 8 regulatory pathway

Disorders associated with Angiopoietin-like protein 8 regulatory pathway SuperPath

STRING Interaction Network for Angiopoietin-like protein 8 regulatory pathway

Sources for Angiopoietin-like protein 8 regulatory pathway