Autophagy pathway

No Pathway Network information available for Autophagy pathway

Pathways in the Autophagy pathway SuperPath

#	Name	Source	Genes
1	Autophagy pathway	Sino Biological	ADAM12 AKT1S1 ATG10 ATG12 ATG13 ATG14 ATG16L1 ATG3 ATG4A ATG4B ATG4C ATG4D ATG5 ATG7 BCL2 BECN1 BMF CCR1 CCR2 CCR5 CIB1 CSF1R CSF3R CXCR4 EDIL3 EIF5 EMB EPHA1 EPHA2 EPHA3 EPHA4 EPHA6 EPHA7 EPHA8 EPHB1 EPHB2 EPHB3 EPHB4 EPHB6 FBLN5 FERMT2 FGF1 FURIN FZD1 FZD10 FZD2 FZD4 FZD5 FZD9 HMGB1 ICAM4 IFNL2 IGF1R IKBKE IL10RA IL10RB IL11RA IL12RB1 IL12RB2 IL13RA1 IL15 IL15RA IL20RB IL21 IL21R IL23R IL27RA IL2RA IL2RB IL3RA IL4R IL5RA IL6R IL6ST IL7R IL9R INS INSR ITGA1 ITGA10 ITGA11 ITGA2 ITGA2B ITGA3 ITGA4 ITGA5 ITGA6 ITGA7 ITGA8 ITGA9 ITGAD ITGAE ITGAL ITGAM ITGAV ITGAX ITGB1 ITGB1BP1 ITGB2 ITGB3 ITGB3BP ITGB4 ITGB5 ITGB6 ITGB7 ITGB8 MAP1LC3A MAP1LC3B MAPK10 MAPK8 MAPK9 MLST8 MTOR PIK3R1 PIK3R2 PIK3R4 PIK3R6 RAB10 RAB11A RAB11B RAB13 RAB14 RAB15 RAB17 RAB18 RAB1A RAB1B RAB20 RAB22A RAB23 RAB25 RAB26 RAB27A RAB27B RAB28 RAB2A RAB2B RAB30 RAB31 RAB33A RAB35 RAB38 RAB39A RAB39B RAB3A RAB3B RAB3C RAB3D RAB40A RAB40AL RAB40B RAB40C RAB41 RAB4A RAB4B RAB5A RAB5B RAB5C RAB6A RAB6B RAB6C RAB7A RAB8A RAB8B RAB9A RPTOR TP53 ULK1 ULK3 (see all 169) (see less)
2	AKT Signaling Pathway	Sino Biological	AKT1 AKT1S1 AKT2 AKT3 AKTIP ATF4 BAD BAX BCAP29 BCAP31 BCL2 BCL2L11 CASP9 CCND1 CCR1 CCR2 CCR5 CDC37 CDKN1A CDKN1B CREB1 CREB3 CREB3L1 CREB3L2 CREB3L4 CSF1R CSF3R CXCR4 EIF4EBP1 FZD1 FZD10 FZD2 FZD4 FZD5 FZD9 GAB1 GAB2 GSK3B GYS1 HRAS HSP90AA1 HSP90AB1 HSP90B1 IFNL2 IGF1R IKBKE IL10RA IL10RB IL11RA IL12RB1 IL12RB2 IL13RA1 IL15 IL15RA IL20RB IL21 IL21R IL23R IL27RA IL2RA IL2RB IL3RA IL4R IL5RA IL6R IL6ST IL7R IL9R ILK ILKAP ITGA1 ITGA10 ITGA11 ITGA2 ITGA2B ITGA3 ITGA4 ITGA5 ITGA6 ITGA7 ITGA8 ITGA9 ITGAD ITGAE ITGAL ITGAM ITGAV ITGAX ITGB1 ITGB1BP1 ITGB2 ITGB3 ITGB3BP ITGB4 ITGB5 ITGB6 ITGB7 ITGB8 JAK1 KRAS LMNA MAP3K8 MDM2 MTOR NRAS PDK1 PIK3CA PIK3CB PIK3R1 PIK3R2 PIP5K1C PIP5KL1 PPP2CA PRKDC PTEN PTK2 PXN RAF1 RPS6KB1 RPS6KB2 SYK THEM4 TP53 XIAP YWHAB YWHAE YWHAG YWHAH YWHAQ YWHAZ (see all 130) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	AKT1S1	AKT1 Substrate 1	Protein Coding	2
2	BCL2	BCL2 Apoptosis Regulator	Protein Coding	2
3	CCR1	C-C Motif Chemokine Receptor 1	Protein Coding	2
4	CCR2	C-C Motif Chemokine Receptor 2	Protein Coding	2
5	CCR5	C-C Motif Chemokine Receptor 5	Protein Coding	2
6	CSF1R	Colony Stimulating Factor 1 Receptor	Protein Coding	2
7	CSF3R	Colony Stimulating Factor 3 Receptor	Protein Coding	2
8	CXCR4	C-X-C Motif Chemokine Receptor 4	Protein Coding	2
9	FZD1	Frizzled Class Receptor 1	Protein Coding	2
10	FZD10	Frizzled Class Receptor 10	Protein Coding	2
11	FZD2	Frizzled Class Receptor 2	Protein Coding	2
12	FZD4	Frizzled Class Receptor 4	Protein Coding	2
13	FZD5	Frizzled Class Receptor 5	Protein Coding	2
14	FZD9	Frizzled Class Receptor 9	Protein Coding	2
15	IFNL2	Interferon Lambda 2	Protein Coding	2
16	IGF1R	Insulin Like Growth Factor 1 Receptor	Protein Coding	2
17	IKBKE	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Epsilon	Protein Coding	2
18	IL10RA	Interleukin 10 Receptor Subunit Alpha	Protein Coding	2
19	IL10RB	Interleukin 10 Receptor Subunit Beta	Protein Coding	2
20	IL11RA	Interleukin 11 Receptor Subunit Alpha	Protein Coding	2
21	IL12RB1	Interleukin 12 Receptor Subunit Beta 1	Protein Coding	2
22	IL12RB2	Interleukin 12 Receptor Subunit Beta 2	Protein Coding	2
23	IL13RA1	Interleukin 13 Receptor Subunit Alpha 1	Protein Coding	2
24	IL15	Interleukin 15	Protein Coding	2
25	IL15RA	Interleukin 15 Receptor Subunit Alpha	Protein Coding	2
26	IL20RB	Interleukin 20 Receptor Subunit Beta	Protein Coding	2
27	IL21	Interleukin 21	Protein Coding	2
28	IL21R	Interleukin 21 Receptor	Protein Coding	2
29	IL23R	Interleukin 23 Receptor	Protein Coding	2
30	IL27RA	Interleukin 27 Receptor Subunit Alpha	Protein Coding	2
31	IL2RA	Interleukin 2 Receptor Subunit Alpha	Protein Coding	2
32	IL2RB	Interleukin 2 Receptor Subunit Beta	Protein Coding	2
33	IL3RA	Interleukin 3 Receptor Subunit Alpha	Protein Coding	2
34	IL4R	Interleukin 4 Receptor	Protein Coding	2
35	IL5RA	Interleukin 5 Receptor Subunit Alpha	Protein Coding	2
36	IL6R	Interleukin 6 Receptor	Protein Coding	2
37	IL6ST	Interleukin 6 Cytokine Family Signal Transducer	Protein Coding	2
38	IL7R	Interleukin 7 Receptor	Protein Coding	2
39	IL9R	Interleukin 9 Receptor	Protein Coding	2
40	ITGA1	Integrin Subunit Alpha 1	Protein Coding	2
41	ITGA10	Integrin Subunit Alpha 10	Protein Coding	2
42	ITGA11	Integrin Subunit Alpha 11	Protein Coding	2
43	ITGA2	Integrin Subunit Alpha 2	Protein Coding	2
44	ITGA2B	Integrin Subunit Alpha 2b	Protein Coding	2
45	ITGA3	Integrin Subunit Alpha 3	Protein Coding	2
46	ITGA4	Integrin Subunit Alpha 4	Protein Coding	2
47	ITGB1	Integrin Subunit Beta 1	Protein Coding	2
48	ITGA5	Integrin Subunit Alpha 5	Protein Coding	2
49	ITGA6	Integrin Subunit Alpha 6	Protein Coding	2
50	ITGA7	Integrin Subunit Alpha 7	Protein Coding	2
51	ITGA8	Integrin Subunit Alpha 8	Protein Coding	2
52	ITGA9	Integrin Subunit Alpha 9	Protein Coding	2
53	ITGAD	Integrin Subunit Alpha D	Protein Coding	2
54	ITGAE	Integrin Subunit Alpha E	Protein Coding	2
55	ITGAL	Integrin Subunit Alpha L	Protein Coding	2
56	ITGAM	Integrin Subunit Alpha M	Protein Coding	2
57	ITGB2	Integrin Subunit Beta 2	Protein Coding	2
58	ITGAV	Integrin Subunit Alpha V	Protein Coding	2
59	ITGAX	Integrin Subunit Alpha X	Protein Coding	2
60	ITGB1BP1	Integrin Subunit Beta 1 Binding Protein 1	Protein Coding	2
61	ITGB3	Integrin Subunit Beta 3	Protein Coding	2
62	ITGB3BP	Integrin Subunit Beta 3 Binding Protein	Protein Coding	2
63	ITGB4	Integrin Subunit Beta 4	Protein Coding	2
64	ITGB5	Integrin Subunit Beta 5	Protein Coding	2
65	ITGB6	Integrin Subunit Beta 6	Protein Coding	2
66	ITGB7	Integrin Subunit Beta 7	Protein Coding	2
67	ITGB8	Integrin Subunit Beta 8	Protein Coding	2
68	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	2
69	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	2
70	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	2
71	TP53	Tumor Protein P53	Protein Coding	2
72	ADAM12	ADAM Metallopeptidase Domain 12	Protein Coding	1
73	ATG10	Autophagy Related 10	Protein Coding	1
74	ATG12	Autophagy Related 12	Protein Coding	1
75	ATG13	Autophagy Related 13	Protein Coding	1
76	ATG14	Autophagy Related 14	Protein Coding	1
77	ATG16L1	Autophagy Related 16 Like 1	Protein Coding	1
78	ATG3	Autophagy Related 3	Protein Coding	1
79	ATG4A	Autophagy Related 4A Cysteine Peptidase	Protein Coding	1
80	ATG4B	Autophagy Related 4B Cysteine Peptidase	Protein Coding	1
81	ATG4C	Autophagy Related 4C Cysteine Peptidase	Protein Coding	1
82	ATG4D	Autophagy Related 4D Cysteine Peptidase	Protein Coding	1
83	ATG5	Autophagy Related 5	Protein Coding	1
84	ATG7	Autophagy Related 7	Protein Coding	1
85	BECN1	Beclin 1	Protein Coding	1
86	BMF	Bcl2 Modifying Factor	Protein Coding	1
87	CIB1	Calcium And Integrin Binding 1	Protein Coding	1
88	EDIL3	EGF Like And Discoidin Domains 3	Protein Coding	1
89	EIF5	Eukaryotic Translation Initiation Factor 5	Protein Coding	1
90	EMB	Embigin	Protein Coding	1
91	EPHA1	EPH Receptor A1	Protein Coding	1
92	EPHA2	EPH Receptor A2	Protein Coding	1
93	EPHA3	EPH Receptor A3	Protein Coding	1
94	EPHA4	EPH Receptor A4	Protein Coding	1
95	EPHA6	EPH Receptor A6	Protein Coding	1
96	EPHA7	EPH Receptor A7	Protein Coding	1
97	EPHA8	EPH Receptor A8	Protein Coding	1
98	EPHB1	EPH Receptor B1	Protein Coding	1
99	EPHB2	EPH Receptor B2	Protein Coding	1
100	EPHB3	EPH Receptor B3	Protein Coding	1
101	EPHB4	EPH Receptor B4	Protein Coding	1
102	EPHB6	EPH Receptor B6	Protein Coding	1
103	FBLN5	Fibulin 5	Protein Coding	1
104	FERMT2	FERM Domain Containing Kindlin 2	Protein Coding	1
105	FGF1	Fibroblast Growth Factor 1	Protein Coding	1
106	FURIN	Furin, Paired Basic Amino Acid Cleaving Enzyme	Protein Coding	1
107	HMGB1	High Mobility Group Box 1	Protein Coding	1
108	ICAM4	Intercellular Adhesion Molecule 4 (Landsteiner-Wiener Blood Group)	Protein Coding	1
109	INS	Insulin	Protein Coding	1
110	INSR	Insulin Receptor	Protein Coding	1
111	MAP1LC3A	Microtubule Associated Protein 1 Light Chain 3 Alpha	Protein Coding	1
112	MAP1LC3B	Microtubule Associated Protein 1 Light Chain 3 Beta	Protein Coding	1
113	MAPK10	Mitogen-Activated Protein Kinase 10	Protein Coding	1
114	MAPK8	Mitogen-Activated Protein Kinase 8	Protein Coding	1
115	MAPK9	Mitogen-Activated Protein Kinase 9	Protein Coding	1
116	MLST8	MTOR Associated Protein MLST8	Protein Coding	1
117	PIK3R4	Phosphoinositide-3-Kinase Regulatory Subunit 4	Protein Coding	1
118	PIK3R6	Phosphoinositide-3-Kinase Regulatory Subunit 6	Protein Coding	1
119	RAB1A	RAB1A, Member RAS Oncogene Family	Protein Coding	1
120	RAB10	RAB10, Member RAS Oncogene Family	Protein Coding	1
121	RAB11A	RAB11A, Member RAS Oncogene Family	Protein Coding	1
122	RAB11B	RAB11B, Member RAS Oncogene Family	Protein Coding	1
123	RAB13	RAB13, Member RAS Oncogene Family	Protein Coding	1
124	RAB14	RAB14, Member RAS Oncogene Family	Protein Coding	1
125	RAB15	RAB15, Member RAS Oncogene Family	Protein Coding	1
126	RAB17	RAB17, Member RAS Oncogene Family	Protein Coding	1
127	RAB18	RAB18, Member RAS Oncogene Family	Protein Coding	1
128	RAB1B	RAB1B, Member RAS Oncogene Family	Protein Coding	1
129	RAB20	RAB20, Member RAS Oncogene Family	Protein Coding	1
130	RAB22A	RAB22A, Member RAS Oncogene Family	Protein Coding	1
131	RAB23	RAB23, Member RAS Oncogene Family	Protein Coding	1
132	RAB25	RAB25, Member RAS Oncogene Family	Protein Coding	1
133	RAB26	RAB26, Member RAS Oncogene Family	Protein Coding	1
134	RAB27A	RAB27A, Member RAS Oncogene Family	Protein Coding	1
135	RAB27B	RAB27B, Member RAS Oncogene Family	Protein Coding	1
136	RAB28	RAB28, Member RAS Oncogene Family	Protein Coding	1
137	RAB2A	RAB2A, Member RAS Oncogene Family	Protein Coding	1
138	RAB2B	RAB2B, Member RAS Oncogene Family	Protein Coding	1
139	RAB30	RAB30, Member RAS Oncogene Family	Protein Coding	1
140	RAB31	RAB31, Member RAS Oncogene Family	Protein Coding	1
141	RAB33A	RAB33A, Member RAS Oncogene Family	Protein Coding	1
142	RAB35	RAB35, Member RAS Oncogene Family	Protein Coding	1
143	RAB38	RAB38, Member RAS Oncogene Family	Protein Coding	1
144	RAB39A	RAB39A, Member RAS Oncogene Family	Protein Coding	1
145	RAB39B	RAB39B, Member RAS Oncogene Family	Protein Coding	1
146	RAB3A	RAB3A, Member RAS Oncogene Family	Protein Coding	1
147	RAB3B	RAB3B, Member RAS Oncogene Family	Protein Coding	1
148	RAB3C	RAB3C, Member RAS Oncogene Family	Protein Coding	1
149	RAB3D	RAB3D, Member RAS Oncogene Family	Protein Coding	1
150	RAB40A	RAB40A, Member RAS Oncogene Family	Protein Coding	1
151	RAB40AL	RAB40A Like	Protein Coding	1
152	RAB40B	RAB40B, Member RAS Oncogene Family	Protein Coding	1
153	RAB40C	RAB40C, Member RAS Oncogene Family	Protein Coding	1
154	RAB41	RAB41, Member RAS Oncogene Family	Protein Coding	1
155	RAB4A	RAB4A, Member RAS Oncogene Family	Protein Coding	1
156	RAB4B	RAB4B, Member RAS Oncogene Family	Protein Coding	1
157	RAB5A	RAB5A, Member RAS Oncogene Family	Protein Coding	1
158	RAB5B	RAB5B, Member RAS Oncogene Family	Protein Coding	1
159	RAB5C	RAB5C, Member RAS Oncogene Family	Protein Coding	1
160	RAB6A	RAB6A, Member RAS Oncogene Family	Protein Coding	1
161	RAB6B	RAB6B, Member RAS Oncogene Family	Protein Coding	1
162	RAB6C	RAB6C, Member RAS Oncogene Family	Protein Coding	1
163	RAB7A	RAB7A, Member RAS Oncogene Family	Protein Coding	1
164	RAB8A	RAB8A, Member RAS Oncogene Family	Protein Coding	1
165	RAB8B	RAB8B, Member RAS Oncogene Family	Protein Coding	1
166	RAB9A	RAB9A, Member RAS Oncogene Family	Protein Coding	1
167	RPTOR	Regulatory Associated Protein Of MTOR Complex 1	Protein Coding	1
168	ULK1	Unc-51 Like Autophagy Activating Kinase 1	Protein Coding	1
169	ULK3	Unc-51 Like Kinase 3	Protein Coding	1
170	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	1
171	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	1
172	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	1
173	AKTIP	AKT Interacting Protein	Protein Coding	1
174	ATF4	Activating Transcription Factor 4	Protein Coding	1
175	BAD	BCL2 Associated Agonist Of Cell Death	Protein Coding	1
176	BAX	BCL2 Associated X, Apoptosis Regulator	Protein Coding	1
177	BCAP29	B Cell Receptor Associated Protein 29	Protein Coding	1
178	BCAP31	B Cell Receptor Associated Protein 31	Protein Coding	1
179	BCL2L11	BCL2 Like 11	Protein Coding	1
180	CASP9	Caspase 9	Protein Coding	1
181	CCND1	Cyclin D1	Protein Coding	1
182	CDC37	Cell Division Cycle 37, HSP90 Cochaperone	Protein Coding	1
183	CDKN1A	Cyclin Dependent Kinase Inhibitor 1A	Protein Coding	1
184	CDKN1B	Cyclin Dependent Kinase Inhibitor 1B	Protein Coding	1
185	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	1
186	CREB3	CAMP Responsive Element Binding Protein 3	Protein Coding	1
187	CREB3L1	CAMP Responsive Element Binding Protein 3 Like 1	Protein Coding	1
188	CREB3L2	CAMP Responsive Element Binding Protein 3 Like 2	Protein Coding	1
189	CREB3L4	CAMP Responsive Element Binding Protein 3 Like 4	Protein Coding	1
190	EIF4EBP1	Eukaryotic Translation Initiation Factor 4E Binding Protein 1	Protein Coding	1
191	GAB1	GRB2 Associated Binding Protein 1	Protein Coding	1
192	GAB2	GRB2 Associated Binding Protein 2	Protein Coding	1
193	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	1
194	GYS1	Glycogen Synthase 1	Protein Coding	1
195	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	1
196	HSP90AA1	Heat Shock Protein 90 Alpha Family Class A Member 1	Protein Coding	1
197	HSP90AB1	Heat Shock Protein 90 Alpha Family Class B Member 1	Protein Coding	1
198	HSP90B1	Heat Shock Protein 90 Beta Family Member 1	Protein Coding	1
199	ILK	Integrin Linked Kinase	Protein Coding	1
200	ILKAP	ILK Associated Serine/Threonine Phosphatase	Protein Coding	1
201	JAK1	Janus Kinase 1	Protein Coding	1
202	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	1
203	LMNA	Lamin A/C	Protein Coding	1
204	MAP3K8	Mitogen-Activated Protein Kinase Kinase Kinase 8	Protein Coding	1
205	MDM2	MDM2 Proto-Oncogene	Protein Coding	1
206	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	1
207	PDK1	Pyruvate Dehydrogenase Kinase 1	Protein Coding	1
208	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	1
209	PIK3CB	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta	Protein Coding	1
210	PIP5K1C	Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Gamma	Protein Coding	1
211	PIP5KL1	Phosphatidylinositol-4-Phosphate 5-Kinase Like 1	Protein Coding	1
212	PPP2CA	Protein Phosphatase 2 Catalytic Subunit Alpha	Protein Coding	1
213	PRKDC	Protein Kinase, DNA-Activated, Catalytic Subunit	Protein Coding	1
214	PTEN	Phosphatase And Tensin Homolog	Protein Coding	1
215	PTK2	Protein Tyrosine Kinase 2	Protein Coding	1
216	PXN	Paxillin	Protein Coding	1
217	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
218	RPS6KB1	Ribosomal Protein S6 Kinase B1	Protein Coding	1
219	RPS6KB2	Ribosomal Protein S6 Kinase B2	Protein Coding	1
220	SYK	Spleen Associated Tyrosine Kinase	Protein Coding	1
221	THEM4	Thioesterase Superfamily Member 4	Protein Coding	1
222	XIAP	X-Linked Inhibitor Of Apoptosis	Protein Coding	1
223	YWHAB	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Beta	Protein Coding	1
224	YWHAE	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Epsilon	Protein Coding	1
225	YWHAG	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Gamma	Protein Coding	1
226	YWHAH	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Eta	Protein Coding	1
227	YWHAQ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Theta	Protein Coding	1
228	YWHAZ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Zeta	Protein Coding	1

Disorders associated with Autophagy pathway SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Hemimegalencephaly	Enrichment	AKT3, MTOR, PIK3CA, PTEN	7.40
2	Breast adenocarcinoma	Enrichment	AKT1, KRAS, PIK3CA, TP53	6.92
3	Bladder cancer	Enrichment	CDKN1A, HRAS, KRAS, PIK3CA, PTEN, TP53	6.56
4	Nevus, epidermal	Enrichment	HRAS, KRAS, NRAS, PIK3CA	6.56
5	Lung non-small cell carcinoma	Enrichment	HRAS, KRAS, NRAS, PIK3CA	5.60
6	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS, KRAS, NRAS	5.47
7	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3, PIK3CA, PIK3R2	5.47
8	Noonan syndrome and noonan-related syndrome	Enrichment	HRAS, KRAS, NRAS, RAF1	4.99
9	Fetomaternal alloimmune thrombocytopenia 1	Enrichment	ITGA2, ITGA2B, ITGB3	4.77
10	Colorectal cancer	Enrichment	AKT1, BAX, CCND1, NRAS, PIK3CA, PIK3R1, TP53	4.71
11	Thyroid cancer, nonmedullary, 2	Enrichment	HRAS, NRAS, PTEN	4.53
12	Noonan syndrome 3	Enrichment	HRAS, KRAS, RAF1	4.53
13	Gallbladder cancer	Enrichment	KRAS, PIK3CA, TP53	4.53
14	Follicular thyroid carcinoma	Enrichment	HRAS, NRAS, PTEN	4.53
15	Melanocytic nevus syndrome, congenital	Enrichment	HRAS, NRAS, RAF1	4.33
16	Hereditary breast carcinoma	Enrichment	AKT1, KRAS, PIK3CA, PTEN, TP53	4.22
17	Noonan syndrome 1	Enrichment	HRAS, KRAS, NRAS, RAF1	4.21
18	Cowden syndrome	Enrichment	AKT1, PIK3CA, PTEN	4.16
19	Breast cancer	Enrichment	AKT1, IL7R, KRAS, PIK3CA, PTEN, TP53	4.09
20	Ras-associated autoimmune leukoproliferative disorder	Enrichment	KRAS, NRAS	4.04
21	Rasopathy	Enrichment	HRAS, KRAS, NRAS, RAF1	3.99
22	Meningioma	Enrichment	AKT1, PIK3CA, PTEN	3.75
23	Lip and oral cavity carcinoma	Enrichment	HRAS, PIK3CA, TP53	3.75
24	Myeloma, multiple	Enrichment	CCND1, IL7R, KRAS, PIK3R2, TP53	3.71
25	Bleeding disorder, platelet-type, 16	Enrichment	ITGA2B, ITGB3	3.57
26	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3CA, PIK3R1	3.57
27	Large congenital melanocytic nevus	Enrichment	HRAS, NRAS	3.57
28	Myxofibrosarcoma	Enrichment	CREB3L1, CREB3L2	3.57
29	Ovarian cancer	Enrichment	AKT1, CDKN1B, KRAS, PIK3CA, PTEN, TP53	3.38
30	Rhabdomyosarcoma	Enrichment	HRAS, PTEN, TP53	3.36
31	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3, PIK3R2	3.27
32	Lung sarcomatoid carcinoma	Enrichment	KRAS, TP53	3.27
33	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	KRAS, NRAS	3.27
34	Gastric cancer	Enrichment	KRAS, PIK3CA, PTEN, TP53	3.13
35	Acute megakaryocytic leukemia	Enrichment	PTEN, TP53	3.05
36	Li-fraumeni syndrome	Enrichment	MDM2, TP53	2.88
37	Cowden syndrome 1	Enrichment	PIK3CA, PTEN	2.88
38	Epidermolysis bullosa, junctional 5b, with pyloric atresia	Enrichment	ITGA6, ITGB4	2.88
39	Il10-related early-onset inflammatory bowel disease	Enrichment	IL10RA, IL10RB	2.88
40	Lung squamous cell carcinoma	Enrichment	KRAS, PIK3CA	2.88
41	Multiple endocrine neoplasia, type i	Enrichment	CDKN1A, CDKN1B	2.73
42	Squamous cell carcinoma, head and neck	Enrichment	PTEN, TP53	2.73
43	Glanzmann thrombasthenia 1	Enrichment	ITGA2B, ITGB3	2.73
44	Capillary malformation-arteriovenous malformation 1	Enrichment	KRAS, PIK3CA	2.73
45	Leukemia, chronic myeloid	Enrichment	KRAS, NRAS	2.73
46	Pilomyxoid astrocytoma	Enrichment	KRAS, RAF1	2.73
47	Oligoarticular juvenile idiopathic arthritis	Enrichment	IL2RA, IL2RB	2.73
48	Overgrowth syndrome	Enrichment	MTOR, PIK3R1	2.73
49	Rheumatoid factor-negative juvenile idiopathic arthritis	Enrichment	IL2RA, IL2RB	2.73
50	Prostate cancer	Enrichment	PIK3CA, PTEN, TP53	2.58
51	Differentiated thyroid carcinoma	Enrichment	HRAS, KRAS, NRAS	2.58
52	Arteriovenous malformation	Enrichment	HRAS, PIK3CA	2.50
53	Adult hepatocellular carcinoma	Enrichment	PIK3CA, TP53	2.50
54	Junctional epidermolysis bullosa	Enrichment	ITGA6, ITGB4	2.50
55	Lung cancer	Enrichment	KRAS, MAP3K8, PIK3CA	2.46
56	Leukemia, chronic lymphocytic	Enrichment	CCND1, TP53	2.41
57	Myopathy, x-linked, with excessive autophagy	Enrichment	HRAS, PIK3CA	2.41
58	Autosomal dominant macrothrombocytopenia	Enrichment	ITGA2B, ITGB3	2.41
59	Severe covid-19	Enrichment	CIB1, IL10RB, ITGAV	2.26
60	Juvenile myelomonocytic leukemia	Enrichment	KRAS, NRAS	2.25
61	Leukemia, acute myeloid	Enrichment	KRAS, NRAS, TP53	2.18
62	Nk-cell enteropathy	Enrichment	IGF1R, PIK3CB	2.18
63	Lung cancer susceptibility 3	Enrichment	KRAS, TP53	2.11
64	Lynch syndrome	Enrichment	KRAS, PIK3CA	2.05
65	Macrodactyly	Enrichment	PIK3CA	2.02
66	Proteus syndrome	Enrichment	AKT1	2.02
67	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	2.02
68	Oculoectodermal syndrome	Enrichment	KRAS	2.02
69	Vacterl association with hydrocephalus	Enrichment	PTEN	2.02
70	Type 1 diabetes mellitus 10	Enrichment	IL2RA	2.02
71	Lymphoproliferative syndrome, x-linked, 2	Enrichment	XIAP	2.02
72	Systemic lupus erythematosus 6	Enrichment	ITGAM	2.02
73	Deafness, autosomal recessive 26	Enrichment	GAB1	2.02
74	Noonan syndrome 5	Enrichment	RAF1	2.02
75	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	2.02
76	Immunodeficiency 30	Enrichment	IL12RB1	2.02
77	Omodysplasia 2	Enrichment	FZD2	2.02
78	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	2.02
79	Cowden syndrome 5	Enrichment	PIK3CA	2.02
80	Polycystic lung disease	Enrichment	CCR2	2.02
81	Melanosis, neurocutaneous	Enrichment	NRAS	2.02
82	Noonan syndrome 6	Enrichment	NRAS	2.02
83	Osteogenesis imperfecta, type xvi	Enrichment	CREB3L1	2.02
84	Whim syndrome 1	Enrichment	CXCR4	2.02
85	Accelerated tumor formation	Enrichment	MDM2	2.02
86	Craniosynostosis and dental anomalies	Enrichment	IL11RA	2.02
87	Cerebral cavernous malformations 4	Enrichment	PIK3CA	2.02
88	Stuve-wiedemann syndrome 2	Enrichment	IL6ST	2.02
89	Hyper-ige syndrome 4a, autosomal dominant, with recurrent infections	Enrichment	IL6ST	2.02
90	Immunodeficiency 82 with systemic inflammation	Enrichment	SYK	2.02
91	Immunodeficiency 63 with lymphoproliferation and autoimmunity	Enrichment	IL2RB	2.02
92	Lessel-kubisch syndrome	Enrichment	MDM2	2.02
93	Short syndrome	Enrichment	PIK3R1	2.02
94	Bone marrow failure syndrome 5	Enrichment	TP53	2.02
95	Fetomaternal alloimmune thrombocytopenia 2	Enrichment	ITGA2B	2.02
96	Papilloma of choroid plexus	Enrichment	TP53	2.02
97	Basal cell carcinoma 7	Enrichment	TP53	2.02
98	Deafness, dystonia, and cerebral hypomyelination	Enrichment	BCAP31	2.02
99	Anaplastic thyroid carcinoma	Enrichment	TP53	2.02
100	Papillary tumor of the pineal region	Enrichment	PTEN	2.02
101	Cardiofaciocutaneous syndrome 2	Enrichment	KRAS	2.02
102	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	2.02
103	Psoriasis 7	Enrichment	IL23R	2.02
104	Hemifacial myohyperplasia	Enrichment	PIK3CA	2.02
105	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
106	Neuroendocrine tumor	Enrichment	CDKN1B	2.02
107	Leopard syndrome 2	Enrichment	RAF1	2.02
108	Interleukin 6, serum level of, quantitative trait locus	Enrichment	IL6R	2.02
109	Immunodeficiency 26 with or without neurologic abnormalities	Enrichment	PRKDC	2.02
110	Soluble interleukin-6 receptor, serum level of, quantitative trait locus	Enrichment	IL6R	2.02
111	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	2.02
112	Cowden syndrome 6	Enrichment	AKT1	2.02
113	Hyper-ige syndrome 5, autosomal recessive, with recurrent infections	Enrichment	IL6R	2.02
114	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	2.02
115	Inflammatory bowel disease 17	Enrichment	IL23R	2.02
116	Microphthalmia/coloboma 11	Enrichment	FZD5	2.02
117	Type 1 diabetes mellitus 22	Enrichment	CCR5	2.02
118	Glioma susceptibility 2	Enrichment	PTEN	2.02
119	Ductal carcinoma in situ	Enrichment	TP53	2.02
120	Developmental and epileptic encephalopathy 56	Enrichment	YWHAG	2.02
121	Hyper-ige syndrome 4b, autosomal recessive, with recurrent infections	Enrichment	IL6ST	2.02
122	Atypical werner syndrome	Enrichment	LMNA	2.02
123	Immunodeficiency 94 with autoinflammation and dysmorphic facies	Enrichment	IL6ST	2.02
124	Brain abnormalities, neurodegeneration, and dysosteosclerosis	Enrichment	CSF1R	2.02
125	Trigonitis	Enrichment	RAF1	2.02
126	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	2.02
127	Thyroid gland undifferentiated carcinoma	Enrichment	TP53	2.02
128	Small-cell carcinoma of the ovary of hypercalcemic type	Enrichment	TP53	2.02
129	Amelogenesis imperfecta, type ih	Enrichment	ITGB6	2.02
130	Csf1r-related disorder	Enrichment	CSF1R	2.02
131	Mandibuloacral dysplasia	Enrichment	LMNA	2.02
132	Atrioventricular block	Enrichment	LMNA	2.02
133	Hypospadias	Enrichment	PIK3CA	2.02
134	Capillary hemangioma	Enrichment	AKT3	2.02
135	Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype	Enrichment	TP53	2.02
136	Colitis	Enrichment	SYK	2.02
137	Congenital pulmonary airway malformation	Enrichment	KRAS	2.02
138	Choroid plexus cancer	Enrichment	TP53	2.02
139	Rare venous malformation	Enrichment	PIK3CA	2.02
140	Fetomaternal alloimmune thrombocytopenia 3	Enrichment	ITGA2	2.02
141	Immune dysregulation, neurodevelopmental defects, and colitis	Enrichment	ITGAV	2.02
142	Diaphragmatic eventration	Enrichment	PIK3CA	2.02
143	Chronic neutrophilic leukemia	Enrichment	CSF3R	2.02
144	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	2.02
145	Early-onset calcifying leukoencephalopathy-skeletal dysplasia	Enrichment	CSF1R	2.02
146	Pleomorphic xanthoastrocytoma	Enrichment	TP53	2.02
147	Rare combined vascular malformation	Enrichment	PIK3CA	2.02
148	Cavernous lymphangioma	Enrichment	PIK3CA	2.02
149	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	2.02
150	Lmna-related cardiocutaneous progeria syndrome	Enrichment	LMNA	2.02
151	T-b+ severe combined immunodeficiency due to il-7ralpha deficiency	Enrichment	IL7R	2.02
152	Phakomatosis pigmentokeratotica	Enrichment	HRAS	2.02
153	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Enrichment	PTEN	2.02
154	Autosomal semi-dominant severe lipodystrophic laminopathy	Enrichment	LMNA	2.02
155	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	2.02
156	Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency	Enrichment	JAK1	2.02
157	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	2.02
158	Distal 17p13.3 microdeletion syndrome	Enrichment	YWHAE	2.02
159	Macrodactyly of toe	Enrichment	PIK3CA	2.02
160	Neurocutaneous melanocytosis	Enrichment	NRAS	2.02
161	Autosomal recessive axonal hereditary motor and sensory neuropathy	Enrichment	LMNA	2.02
162	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	2.02
163	Laminopathy	Enrichment	LMNA	2.02
164	Blood group system, landsteiner-wiener	Enrichment	ICAM4	1.90
165	Lymphatic malformation 5	Enrichment	EPHB4	1.90
166	Cutis laxa, autosomal recessive, type ia	Enrichment	FBLN5	1.90
167	Donohue syndrome	Enrichment	INSR	1.90
168	Waisman syndrome	Enrichment	RAB39B	1.90
169	Griscelli syndrome, type 2	Enrichment	RAB27A	1.90
170	Hyperinsulinemic hypoglycemia, familial, 5	Enrichment	INSR	1.90
171	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	Enrichment	INSR	1.90
172	Diabetes mellitus, insulin-resistant, with acanthosis nigricans	Enrichment	INSR	1.90
173	Macular degeneration, age-related, 3	Enrichment	FBLN5	1.90
174	Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia	Enrichment	HMGB1	1.90
175	Cone-rod dystrophy 18	Enrichment	RAB28	1.90
176	Spinocerebellar ataxia, autosomal recessive 25	Enrichment	ATG5	1.90
177	Charcot-marie-tooth disease, axonal, type 2b	Enrichment	RAB7A	1.90
178	Charcot-marie-tooth disease type 2b	Enrichment	RAB7A	1.90
179	Intellectual developmental disorder, x-linked 72	Enrichment	RAB39B	1.90
180	Prostate cancer/brain cancer susceptibility	Enrichment	EPHB2	1.90
181	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	Enrichment	RAB11B	1.90
182	Inflammatory bowel disease 10	Enrichment	ATG16L1	1.90
183	Cutis laxa, autosomal dominant 2	Enrichment	FBLN5	1.90
184	Spermatogenic failure 101	Enrichment	ATG4D	1.90
185	Warburg micro syndrome 3	Enrichment	RAB18	1.90
186	Bleeding disorder, platelet-type, 22	Enrichment	EPHB2	1.90
187	Charcot-marie-tooth disease, demyelinating, type 1h	Enrichment	FBLN5	1.90
188	Griscelli syndrome	Enrichment	RAB27A	1.90
189	Hereditary sensorimotor neuropathy with hyperelastic skin	Enrichment	FBLN5	1.90
190	Ephb4-related lymphatic-related hydrops fetalis	Enrichment	EPHB4	1.90
191	Vein of galen aneurysmal malformation	Enrichment	EPHB4	1.90
192	Human immunodeficiency virus type 1	Enrichment	CCR2, CCR5	1.90
193	Behcet syndrome	Enrichment	CCR1, IL23R	1.85
194	Diffuse large b-cell lymphoma	Enrichment	PTEN, TP53	1.85
195	Hereditary breast ovarian cancer syndrome	Enrichment	KRAS, PTEN, TP53	1.80
196	Endometrial cancer	Enrichment	PIK3CA, PTEN	1.77
197	Hepatocellular carcinoma	Enrichment	PIK3CA, TP53	1.73
198	Leukocyte adhesion deficiency, type i	Enrichment	ITGB2	1.72
199	Adrenocortical carcinoma, hereditary	Enrichment	TP53	1.72
200	Costello syndrome	Enrichment	HRAS	1.72
201	Mandibuloacral dysplasia with type a lipodystrophy	Enrichment	LMNA	1.72
202	Cervical cancer	Enrichment	TP53	1.72
203	West nile virus	Enrichment	CCR5	1.72
204	Lethal congenital contracture syndrome 3	Enrichment	PIP5K1C	1.72
205	Immunodeficiency 41 with lymphoproliferation and autoimmunity	Enrichment	IL2RA	1.72
206	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	1.72
207	Inflammatory bowel disease 28, autosomal recessive	Enrichment	IL10RA	1.72
208	Heart-hand syndrome, slovenian type	Enrichment	LMNA	1.72
209	Keratosis, seborrheic	Enrichment	PIK3CA	1.72
210	Charcot-marie-tooth disease, axonal, type 2b1	Enrichment	LMNA	1.72
211	Leukocyte adhesion deficiency, type iii	Enrichment	ITGB2	1.72
212	Encephalocraniocutaneous lipomatosis	Enrichment	KRAS	1.72
213	Neutrophilia, hereditary	Enrichment	CSF3R	1.72
214	Cardiomyopathy, dilated, with hypergonadotropic hypogonadism	Enrichment	LMNA	1.72
215	Robinow syndrome, autosomal dominant 3	Enrichment	FZD2	1.72
216	Noonan syndrome 8	Enrichment	PIK3CA	1.72
217	Lymphoma, hodgkin, classic	Enrichment	TP53	1.72
218	Neutropenia, severe congenital, 7, autosomal recessive	Enrichment	CSF3R	1.72
219	Multiple endocrine neoplasia, type iv	Enrichment	CDKN1B	1.72
220	Immunodeficiency 31c	Enrichment	IL21R	1.72
221	Cardiomyopathy, dilated, 1d	Enrichment	LMNA	1.72
222	Restrictive dermopathy 2	Enrichment	LMNA	1.72
223	Emery-dreifuss muscular dystrophy 3, autosomal recessive	Enrichment	LMNA	1.72
224	Epidermolysis bullosa, junctional 5a, intermediate	Enrichment	ITGB4	1.72
225	Cebalid syndrome	Enrichment	MTOR	1.72
226	Intravascular large b-cell lymphoma	Enrichment	BCL2	1.72
227	Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	Enrichment	ITGA3	1.72
228	Immunodeficiency 56	Enrichment	IL21R	1.72
229	Glycogen storage disease 0, muscle	Enrichment	GYS1	1.72
230	Senior-loken syndrome 7	Enrichment	AKT3	1.72
231	Rosette-forming glioneuronal tumor	Enrichment	PIK3CA	1.72
232	Lipodystrophy, familial partial, type 1	Enrichment	LMNA	1.72
233	Congenital fibrosarcoma	Enrichment	TP53	1.72
234	Inflammatory bowel disease 28	Enrichment	IL10RA	1.72
235	Li-fraumeni syndrome 1	Enrichment	TP53	1.72
236	Severe congenital neutropenia 7	Enrichment	CSF3R	1.72
237	Sarcoma	Enrichment	TP53	1.72
238	Immunodeficiency 104, severe combined	Enrichment	IL7R	1.72
239	Autoinflammation, immune dysregulation, and eosinophilia	Enrichment	JAK1	1.72
240	Multiple sclerosis 3	Enrichment	IL7R	1.72
241	Cervix carcinoma	Enrichment	TP53	1.72
242	Hodgkin's lymphoma	Enrichment	TP53	1.72
243	Bardet-biedl syndrome 16	Enrichment	AKT3	1.72
244	Smith-kingsmore syndrome	Enrichment	MTOR	1.72
245	Houge-janssens syndrome 3	Enrichment	PPP2CA	1.72
246	Localized junctional epidermolysis bullosa, non-herlitz type	Enrichment	ITGB4	1.72
247	Familial partial lipodystrophy	Enrichment	LMNA	1.72
248	Cadds	Enrichment	BCAP31	1.72
249	Vacterl with hydrocephalus	Enrichment	PTEN	1.72
250	Arthritis	Enrichment	SYK	1.72
251	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	Enrichment	GYS1	1.72
252	Juvenile polyposis of infancy	Enrichment	PTEN	1.72
253	Charcot-marie-tooth disease type 2b1	Enrichment	LMNA	1.72
254	Pleomorphic rhabdomyosarcoma	Enrichment	TP53	1.72
255	Wooly hair nevus	Enrichment	HRAS	1.72
256	Cardiomyopathy, familial hypertrophic, 1	Enrichment	LMNA, RAF1	1.66
257	Pancreatic cancer	Enrichment	KRAS, TP53	1.63
258	Lymphatic malformation 1	Enrichment	EPHB4	1.61
259	Intracranial hypertension, idiopathic	Enrichment	EPHB4	1.61
260	Spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy	Enrichment	RAB33A	1.61
261	Charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxia	Enrichment	RAB33A	1.61
262	Combined oxidative phosphorylation deficiency 6	Enrichment	RAB33A	1.61
263	Hyperinsulinemic hypoglycemia, familial, 4	Enrichment	INSR	1.61
264	Fatty liver disease 1	Enrichment	ATG7	1.61
265	Maturity-onset diabetes of the young, type 10	Enrichment	INS	1.61
266	Carpenter syndrome 1	Enrichment	RAB23	1.61
267	Hyperproinsulinemia	Enrichment	INS	1.61
268	Epidermodysplasia verruciformis 3	Enrichment	CIB1	1.61
269	Spinocerebellar ataxia, autosomal recessive 31	Enrichment	ATG7	1.61
270	Diabetes mellitus, permanent neonatal, 4	Enrichment	INS	1.61
271	Hereditary lymphedema i	Enrichment	EPHB4	1.61
272	Charcot-marie-tooth disease x-linked recessive 4	Enrichment	RAB33A	1.61
273	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	ITGB3	1.55
274	Pompe disease, infantile-onset	Enrichment	PIK3CA	1.55
275	Leukoencephalopathy, hereditary diffuse, with spheroids 1	Enrichment	CSF1R	1.55
276	Restrictive dermopathy 1	Enrichment	LMNA	1.55
277	Stuve-wiedemann syndrome 1	Enrichment	IL6ST	1.55
278	Langerhans cell histiocytosis	Enrichment	NRAS	1.55
279	Osteogenic sarcoma	Enrichment	TP53	1.55
280	Hepatitis c virus	Enrichment	CCR5	1.55
281	Nasopharyngeal carcinoma	Enrichment	TP53	1.55
282	Lipodystrophy, familial partial, type 2	Enrichment	LMNA	1.55
283	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	Enrichment	ITGA7	1.55
284	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3R1	1.55
285	Miller-dieker lissencephaly syndrome	Enrichment	YWHAE	1.55
286	Muscular dystrophy, congenital, lmna-related	Enrichment	LMNA	1.55
287	Chromosome 17p13.3, centromeric, duplication syndrome	Enrichment	YWHAE	1.55
288	Epidermolysis bullosa, junctional 6, with pyloric atresia	Enrichment	ITGA6	1.55
289	Breast implant-associated anaplastic large cell lymphoma	Enrichment	JAK1	1.55
290	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	BCL2	1.55
291	Dedifferentiated liposarcoma	Enrichment	MDM2	1.55
292	Atypical teratoid rhabdoid tumor	Enrichment	TP53	1.55
293	Inflammatory bowel disease 25	Enrichment	IL10RB	1.55
294	Anaplastic astrocytoma	Enrichment	TP53	1.55
295	Immunodeficiency 14	Enrichment	PIK3R1	1.55
296	Squamous cell carcinoma	Enrichment	TP53	1.55
297	T-cell acute lymphoblastic leukemia	Enrichment	BAX	1.55
298	Adenocarcinoma	Enrichment	TP53	1.55
299	Immunodeficiency, common variable, 11	Enrichment	IL21	1.55
300	Laryngeal squamous cell carcinoma	Enrichment	PTEN	1.55
301	Bone osteosarcoma	Enrichment	TP53	1.55
302	Restrictive dermopathy	Enrichment	LMNA	1.55
303	Spermatocytoma	Enrichment	HRAS	1.55
304	Growth delay due to insulin-like growth factor i resistance	Enrichment	IGF1R	1.55
305	Bleeding disorder, platelet-type, 24	Enrichment	ITGB3	1.55
306	Melanoma of soft tissue	Enrichment	CREB1	1.55
307	Well-differentiated liposarcoma	Enrichment	MDM2	1.55
308	Alopecia - intellectual disability syndrome	Enrichment	ITGB6	1.55
309	Stüve-wiedemann syndrome	Enrichment	IL6ST	1.55
310	Keratoacanthoma	Enrichment	PIK3CA	1.55
311	Non-immune hydrops fetalis	Enrichment	HRAS, KRAS	1.45
312	Type 1 diabetes mellitus 2	Enrichment	INS	1.43
313	Deafness, x-linked 5, with peripheral neuropathy	Enrichment	RAB33A	1.43
314	X-linked deafness 5	Enrichment	RAB33A	1.43
315	Autosomal recessive cutis laxa type i	Enrichment	FBLN5	1.43
316	Autosomal dominant cutis laxa	Enrichment	FBLN5	1.43
317	Lymphatic malformation 7	Enrichment	EPHB4	1.43
318	Capillary malformation-arteriovenous malformation 2	Enrichment	EPHB4	1.43
319	Combined oxidative phosphorylation deficiency	Enrichment	RAB33A	1.43
320	Amelogenesis imperfecta, type iiia	Enrichment	ITGB6	1.42
321	Hutchinson-gilford progeria syndrome	Enrichment	LMNA	1.42
322	Cardiofaciocutaneous syndrome 1	Enrichment	KRAS	1.42
323	Diffuse gastric and lobular breast cancer syndrome	Enrichment	KRAS	1.42
324	Small cell cancer of the lung	Enrichment	TP53	1.42
325	Robinow syndrome, autosomal dominant 1	Enrichment	FZD2	1.42
326	Emery-dreifuss muscular dystrophy 1, x-linked	Enrichment	LMNA	1.42
327	Thyroid cancer, nonmedullary, 1	Enrichment	TP53	1.42
328	Microtia-anotia	Enrichment	LMNA	1.42
329	Epidermolysis bullosa simplex 5c, with pyloric atresia	Enrichment	ITGB4	1.42
330	Focal cortical dysplasia, type ii	Enrichment	MTOR	1.42
331	Retinitis pigmentosa 26	Enrichment	ITGA4	1.42
332	Lymphoproliferative syndrome 2	Enrichment	XIAP	1.42
333	Mantle cell lymphoma	Enrichment	CCND1	1.42
334	Cardiofaciocutaneous syndrome	Enrichment	KRAS	1.42
335	Emery-dreifuss muscular dystrophy	Enrichment	LMNA	1.42
336	Retinopathy of prematurity	Enrichment	FZD4	1.42
337	Hepatitis b	Enrichment	IL10RB	1.42
338	Cerebrovascular disease	Enrichment	PIK3CA	1.42
339	Embryonal rhabdomyosarcoma	Enrichment	TP53	1.42
340	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	YWHAZ	1.42
341	Noonan syndrome with multiple lentigines	Enrichment	RAF1	1.42
342	Pilocytic astrocytoma	Enrichment	KRAS	1.42
343	Epidermolytic nevus	Enrichment	HRAS	1.42
344	Autosomal dominant robinow syndrome	Enrichment	FZD2	1.42
345	Familial cerebral cavernous malformations	Enrichment	PIK3CA	1.42
346	Eyelid coloboma	Enrichment	FZD5	1.42
347	Sick sinus syndrome	Enrichment	LMNA	1.42
348	Primary hyperparathyroidism	Enrichment	CDKN1B	1.42
349	Isolated focal cortical dysplasia type ii	Enrichment	MTOR	1.42
350	Glioma	Enrichment	PTEN	1.42
351	Lens coloboma	Enrichment	FZD5	1.42
352	Left ventricular noncompaction	Enrichment	LMNA, RAF1	1.36
353	Capillary malformations, congenital	Enrichment	PIK3CA	1.33
354	Epidermolysis bullosa simplex 1c, localized	Enrichment	ITGB4	1.33
355	Exudative vitreoretinopathy 1	Enrichment	FZD4	1.33
356	Von hippel-lindau syndrome	Enrichment	CCND1	1.33
357	Robinow syndrome, autosomal recessive 1	Enrichment	FZD2	1.33
358	Norrie disease	Enrichment	FZD4	1.33
359	Rhabdomyosarcoma 2	Enrichment	TP53	1.33
360	Macrocephaly/autism syndrome	Enrichment	PTEN	1.33
361	Insulin-like growth factor i	Enrichment	IGF1R	1.33
362	Robinow syndrome, autosomal dominant 2	Enrichment	FZD2	1.33
363	Glanzmann thrombasthenia 2	Enrichment	ITGB3	1.33
364	Follicular lymphoma	Enrichment	BCL2	1.33
365	Lymphoma	Enrichment	TP53	1.33
366	Autosomal recessive limb-girdle muscular dystrophy type 2b	Enrichment	LMNA	1.33
367	Epidermolysis bullosa	Enrichment	ITGA6	1.33
368	Hemangioma	Enrichment	PTEN	1.33
369	Persistent hyperplastic primary vitreous	Enrichment	FZD4	1.33
370	Histiocytoid hemangioma	Enrichment	LMNA	1.33
371	Aplasia cutis congenita	Enrichment	ITGB4	1.33
372	Coloboma of choroid and retina	Enrichment	FZD5	1.33
373	Endometrial stromal sarcoma	Enrichment	YWHAE	1.33
374	Warburg micro syndrome 1	Enrichment	RAB18	1.31
375	Neonatal diabetes mellitus	Enrichment	INS	1.31
376	Inherited epidermodysplasia verruciformis	Enrichment	CIB1	1.31
377	Klippel-trenaunay-weber syndrome	Enrichment	PIK3CA	1.25
378	Coloboma of optic nerve	Enrichment	FZD5	1.25
379	Emery-dreifuss muscular dystrophy 2, autosomal dominant	Enrichment	LMNA	1.25
380	Epidermolysis bullosa, junctional 1a, intermediate	Enrichment	ITGB4	1.25
381	Hemihyperplasia, isolated	Enrichment	PIK3CA	1.25
382	Inflammatory bowel disease 25, autosomal recessive	Enrichment	IL10RB	1.25
383	Junctional epidermolysis bullosa non-herlitz type	Enrichment	ITGB4	1.25
384	Autosomal recessive robinow syndrome	Enrichment	FZD2	1.25
385	Adrenocortical carcinoma	Enrichment	TP53	1.25
386	Kidney clear cell sarcoma	Enrichment	YWHAE	1.25
387	Cataract 6, multiple types	Enrichment	EPHA2	1.22
388	Aniridia	Enrichment	EPHA2	1.22
389	Esophageal cancer	Enrichment	TP53	1.19
390	Bethlem myopathy 1a	Enrichment	LMNA	1.19
391	Coats disease	Enrichment	FZD4	1.19
392	Renal cell carcinoma, papillary, 1	Enrichment	MTOR	1.19
393	Essential thrombocythemia	Enrichment	TP53	1.19
394	Megacolon	Enrichment	AKT3	1.19
395	Epidermolysis bullosa simplex	Enrichment	ITGB4	1.19
396	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	TP53	1.19
397	Type 1 diabetes mellitus	Enrichment	INS	1.14
398	46,xy disorder of sex development	Enrichment	INSR	1.14
399	Glioma susceptibility 1	Enrichment	TP53	1.13
400	Renal hypodysplasia/aplasia 1	Enrichment	ITGA8	1.13
401	Lymphoma, non-hodgkin, familial	Enrichment	TP53	1.13
402	Exudative vitreoretinopathy	Enrichment	FZD4	1.13
403	Severe congenital neutropenia	Enrichment	CSF3R	1.13
404	Congenital muscular dystrophy	Enrichment	LMNA	1.13
405	Myocarditis	Enrichment	LMNA	1.13
406	Thrombocytopenia	Enrichment	ITGA2B, ITGB3	1.11
407	Arrhythmogenic right ventricular dysplasia, familial, 9	Enrichment	LMNA	1.08
408	Atypical chronic myeloid leukemia, bcr-abl1 negative	Enrichment	CSF3R	1.08
409	Primary hyperaldosteronism	Enrichment	TP53	1.08
410	Primary biliary cholangitis	Enrichment	IL12RB1	1.08
411	Renal agenesis, bilateral	Enrichment	ITGA8	1.08
412	Familial isolated dilated cardiomyopathy	Enrichment	LMNA, RAF1	1.04
413	Cat eye syndrome	Enrichment	FZD5	1.04
414	Amelogenesis imperfecta, type ie	Enrichment	ITGB6	1.04
415	Omenn syndrome	Enrichment	IL7R	1.04
416	Polymicrogyria	Enrichment	AKT3	1.04
417	Melanoma	Enrichment	PTEN	1.04
418	Familial colorectal cancer	Enrichment	TP53	1.04
419	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3R1	1.04
420	Lennox-gastaut syndrome	Enrichment	MAPK10	1.02
421	Permanent neonatal diabetes mellitus	Enrichment	INS	1.02
422	Early-onset posterior polar cataract	Enrichment	EPHA2	1.02
423	Immune deficiency disease	Enrichment	SYK	1.00
424	Frontotemporal dementia 1	Enrichment	CSF1R	1.00
425	Meningioma, familial	Enrichment	PTEN	1.00
426	Myelodysplastic syndrome	Enrichment	TP53	1.00
427	Glycogen storage disease	Enrichment	GYS1	1.00
428	Ichthyosis	Enrichment	IL2RB	1.00
429	Uterine corpus cancer	Enrichment	PTEN	1.00
430	Specific learning disability	Enrichment	YWHAG	1.00
431	Cardiac conduction defect	Enrichment	LMNA	0.96
432	Muscular dystrophy, limb-girdle, autosomal recessive 2	Enrichment	LMNA	0.96
433	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	LMNA	0.96
434	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	LMNA	0.96
435	Microphthalmia/coloboma 12	Enrichment	FZD5	0.93
436	Neural tube defects	Enrichment	ITGB1	0.93
437	Alzheimer's disease	Enrichment	CSF1R	0.93
438	Protein-deficiency anemia	Enrichment	NRAS	0.93
439	Multiple sclerosis	Enrichment	ITGB4	0.90
440	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	LMNA	0.90
441	Isolated macular dystrophy	Enrichment	ITGA4	0.90
442	Diabetes mellitus	Enrichment	INS	0.89
443	Inherited cancer-predisposing syndrome	Enrichment	CDKN1B, PTEN, TP53	0.88
444	Coloboma of macula	Enrichment	FZD5	0.87
445	Renal cell carcinoma, nonpapillary	Enrichment	MTOR	0.87
446	Congenital myopathy 4a, autosomal dominant	Enrichment	ITGA7	0.87
447	Osteogenesis imperfecta, type iii	Enrichment	CREB3L1	0.87
448	Rare genetic intellectual disability	Enrichment	MTOR	0.87
449	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	LMNA	0.85
450	Gliosarcoma	Enrichment	TP53	0.85
451	Alzheimer disease, familial, 1	Enrichment	CSF1R	0.82
452	Cardiomyopathy, dilated, 1e	Enrichment	LMNA	0.82
453	Giant cell glioblastoma	Enrichment	TP53	0.82
454	Neuromuscular disease	Enrichment	LMNA	0.80
455	Cataract	Enrichment	EPHA2	0.79
456	Arteriovenous malformations of the brain	Enrichment	KRAS	0.78
457	Neuropathy, hereditary motor and sensory, okinawa type	Enrichment	LMNA	0.78
458	Craniosynostosis	Enrichment	IL11RA	0.76
459	Dilated cardiomyopathy	Enrichment	LMNA, RAF1	0.75
460	Isolated congenital microcephaly	Enrichment	RAB11A	0.74
461	Cardiomyopathy, dilated, 1a	Enrichment	LMNA	0.74
462	Hepatoblastoma	Enrichment	TP53	0.74
463	Myocardial infarction	Enrichment	ITGB3	0.72
464	Skin disease	Enrichment	ITGB4	0.72
465	Cataract 44	Enrichment	EPHA2	0.72
466	Diamond-blackfan anemia 1	Enrichment	TP53	0.70
467	Brittle bone disorder	Enrichment	CREB3L1	0.70
468	Early-onset nuclear cataract	Enrichment	EPHA2	0.69
469	Autoinflammatory disease	Enrichment	XIAP	0.69
470	Muscular dystrophy	Enrichment	LMNA	0.69
471	Cone-rod dystrophy 2	Enrichment	ITGA4, RAB28	0.68
472	Hydrops fetalis, nonimmune	Enrichment	HRAS	0.65
473	Brugada syndrome	Enrichment	LMNA	0.65
474	Maturity-onset diabetes of the young	Enrichment	INS	0.65
475	Leukodystrophy	Enrichment	RAB33A	0.65
476	Multisystem inflammatory syndrome in children	Enrichment	RAB27A	0.62
477	Long qt syndrome	Enrichment	LMNA	0.59
478	Cone dystrophy	Enrichment	RAB28	0.58
479	Peripheral nervous system disease	Enrichment	LMNA	0.58
480	Neuropathy	Enrichment	LMNA	0.58
481	Familial hypertrophic cardiomyopathy	Enrichment	RAF1	0.56
482	Severe combined immunodeficiency	Enrichment	IL7R	0.56
483	Tetralogy of fallot	Enrichment	EPHB4	0.56
484	Auditory neuropathy	Enrichment	RAB33A	0.56
485	Diamond-blackfan anemia	Enrichment	TP53	0.53
486	Systemic lupus erythematosus	Enrichment	ITGAM	0.50
487	Charcot-marie-tooth disease	Enrichment	LMNA	0.49
488	Microcephaly	Enrichment	IGF1R, YWHAG	0.48
489	Type 2 diabetes mellitus	Enrichment	AKT2	0.48
490	Nephrotic syndrome	Enrichment	ITGA3	0.47
491	Non-syndromic x-linked intellectual disability	Enrichment	RAB39B	0.44
492	Autosomal dominant non-syndromic intellectual disability	Enrichment	YWHAZ	0.42
493	Hypertelorism	Enrichment	PIK3CA	0.40
494	Undetermined early-onset epileptic encephalopathy	Enrichment	YWHAG	0.38
495	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	CSF1R	0.37
496	Sensorineural hearing loss	Enrichment	RAB33A	0.34
497	Congenital nervous system abnormality	Enrichment	PTEN	0.19
498	Nervous system disease	Enrichment	PTEN	0.19
499	Autism spectrum disorder	Enrichment	PTEN	0.19
500	Complex neurodevelopmental disorder	Enrichment	PPP2CA	0.16
501	Hereditary retinal dystrophy	Enrichment	FZD4, ITGA4, RAB28	0.15
502	Fundus dystrophy	Enrichment	FZD4, ITGA4, RAB28	0.15

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Autophagy pathway

Pathway Network for Autophagy pathway

Member Pathways for Autophagy pathway

Pathways in the Autophagy pathway SuperPath

Associated Genes for Autophagy pathway

Associated Disorders for Autophagy pathway

Disorders associated with Autophagy pathway SuperPath

STRING Interaction Network for Autophagy pathway

Sources for Autophagy pathway