Immune response IL-23 signaling pathway

Pathway network for the Immune response IL-23 signaling pathway SuperPath

Sources:

GeneGo (Thomson Reuters)
WikiPathways
PubChem
QIAGEN

Pathways in the Immune response IL-23 signaling pathway SuperPath

#	Name	Source	Genes
1	Immune response IL-23 signaling pathway	GeneGo (Thomson Reuters)	AKT1 AKT2 AKT3 CHUK IKBKB IL12B IL12RB1 IL17A IL17F IL23A IL23R JAK2 NFKB1 NFKBIA NFKBIB NFKBIE PDPK1 PIK3CA PIK3CB PIK3CD PIK3R1 PIK3R2 PIK3R3 RELA RORC SOCS3 STAT1 STAT3 STAT4 STAT5A STAT5B TYK2 (see all 32) (see less)
2	RAC1/PAK1/p38/MMP2 pathway	WikiPathways	AKT1 ANGPT1 ANGPT2 ANGPT4 ANGPTL1 BAD BAX BIRC5 CASP7 CASP9 CHUK CRK CTNNB1 DOK2 EGFR EIF4EBP1 ERBB2 FN1 FOXO1 GRB14 GRB2 GRB7 HRAS IKBKB IKBKG ITGB1 KRAS MAPK1 MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 MAPK8 MAPK9 MMP2 MSH2 MYC NCK1 NFKB1 NFKBIA NOS1 NOS2 NRAS PAK1 PIK3CA PIK3R1 PTK2 PTPN11 PXN RAC1 RAD51 RASA1 RELA RS1 SOS1 SRC STAT3 STAT5A STAT5B STMN1 TEK TIE1 TNIP1 TNIP2 TNIP3 TP53 YAP1 (see all 68) (see less)
3	Development Angiopoietin - Tie2 signaling	GeneGo (Thomson Reuters)	AKT1 AKT2 AKT3 ANGPT1 ANGPT2 ANGPT4 ANGPTL1 ARNT BIRC5 CDKN1A CHUK CRK DOK2 ELF2 EPAS1 FOXO1 GRB14 GRB2 GRB7 IKBKB IKBKG NCK1 NFKB1 NFKB2 NFKBIA NFKBIB NFKBIE PAK1 PIK3CA PIK3CB PIK3CD PIK3R1 PIK3R2 PIK3R3 PTPN11 RASA1 REL RELA RELB RIPK1 STAT1 STAT3 STAT5A STAT5B TEK TIE1 TNIP2 (see all 47) (see less)
4	Angiopoietin receptor Tie2-mediated signaling	PubChem	AGTR1 AKT1 ANGPT1 ANGPT2 BMX CDKN1A CRK DOK2 ELF1 ELF2 ELK1 ETS1 F2 FES FGF2 FN1 FOXO1 FYN GRB14 GRB2 GRB7 ITGA5 ITGB1 MAPK14 MAPK3 MAPK8 MMP2 NCK1 NFKB1 NOS3 PAK1 PIK3CA PIK3R1 PLD2 PLG PTK2 PTPN11 PXN RAC1 RASA1 RELA RPS6KB1 SHC1 STAT5A TEK TNF (see all 46) (see less)
5	Angiopoietin-TIE2 Signaling	QIAGEN	ANGPT1 ANGPT2 ANGPT4 ANGPTL1 BAD BIRC5 CASP9 CHUK DOK2 FOXO1 FOXO3 GRB14 GRB2 GRB7 IKBKB IKBKE IKBKG NCK1 NCK2 NOS3 PAK1 PAK2 PAK3 PAK4 PAK5 PAK6 PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 PTK2 PTK2B RASA1 STAT3 STAT5A STAT5B TEK TIE1 TNIP1 (see all 40) (see less)
6	Development PDGF signaling via STATs and NF-kB	GeneGo (Thomson Reuters)	AKT1 AKT2 AKT3 CHUK EIF2AK2 FOS GRB2 HRAS IKBKB JAK1 JAK2 MYC NFKB1 NFKB2 NFKBIA NFKBIB NFKBIE PDGFA PDGFB PDGFRA PDGFRB PIK3CA PIK3CB PIK3CD PIK3R1 PIK3R2 PIK3R3 REL RELA RELB SHC1 SOS1 SOS2 SRC STAT1 STAT3 STAT5A STAT5B STAT6 TYK2 (see all 40) (see less)
7	IL23-mediated signaling events	PubChem	ALOX12B CCL2 CD3E CD4 CXCL1 CXCL9 IFNG IL12B IL12RB1 IL17A IL17F IL18 IL18R1 IL18RAP IL19 IL1B IL2 IL23A IL23R IL24 IL6 ITGA3 JAK2 MPO NFKB1 NFKBIA NOS2 PIK3CA PIK3R1 RELA SOCS3 STAT1 STAT3 STAT4 STAT5A TNF TYK2 (see all 37) (see less)
8	Immune response IL-10 signaling pathway	GeneGo (Thomson Reuters)	AKT1 AKT2 AKT3 BCL2 BCL2L1 CD14 CDKN2D CSRP2 IL10 IL10RA IL10RB IRS2 JAK1 PDPK1 PIK3CA PIK3CB PIK3CD PIK3R1 PIK3R2 PIK3R3 RPS6KB1 SOCS3 STAT1 STAT3 STAT5A STAT5B TIMP1 TNF TYK2 (see all 29) (see less)

Gene overlap in member pathways for Immune response IL-23 signaling pathway SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	8
2	STAT5A	Signal Transducer And Activator Of Transcription 5A	Protein Coding	8
3	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	7
4	STAT3	Signal Transducer And Activator Of Transcription 3	Protein Coding	7
5	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	6
6	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	6
7	RELA	RELA Proto-Oncogene, NF-KB Subunit	Protein Coding	6
8	STAT5B	Signal Transducer And Activator Of Transcription 5B	Protein Coding	6
9	CHUK	Component Of Inhibitor Of Nuclear Factor Kappa B Kinase Complex	Protein Coding	5
10	IKBKB	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta	Protein Coding	5
11	NFKBIA	NFKB Inhibitor Alpha	Protein Coding	5
12	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	5
13	STAT1	Signal Transducer And Activator Of Transcription 1	Protein Coding	5
14	PIK3R3	Phosphoinositide-3-Kinase Regulatory Subunit 3	Protein Coding	5
15	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	5
16	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	4
17	PIK3CB	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta	Protein Coding	4
18	PIK3CD	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta	Protein Coding	4
19	TYK2	Tyrosine Kinase 2	Protein Coding	4
20	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	4
21	DOK2	Docking Protein 2	Protein Coding	4
22	TEK	TEK Receptor Tyrosine Kinase	Protein Coding	4
23	RASA1	RAS P21 Protein Activator 1	Protein Coding	4
24	PAK1	P21 (RAC1) Activated Kinase 1	Protein Coding	4
25	NCK1	NCK Adaptor Protein 1	Protein Coding	4
26	GRB14	Growth Factor Receptor Bound Protein 14	Protein Coding	4
27	GRB7	Growth Factor Receptor Bound Protein 7	Protein Coding	4
28	ANGPT2	Angiopoietin 2	Protein Coding	4
29	ANGPT1	Angiopoietin 1	Protein Coding	4
30	FOXO1	Forkhead Box O1	Protein Coding	4
31	JAK2	Janus Kinase 2	Protein Coding	3
32	NFKBIB	NFKB Inhibitor Beta	Protein Coding	3
33	NFKBIE	NFKB Inhibitor Epsilon	Protein Coding	3
34	SOCS3	Suppressor Of Cytokine Signaling 3	Protein Coding	3
35	IKBKG	Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma	Protein Coding	3
36	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	3
37	PTK2	Protein Tyrosine Kinase 2	Protein Coding	3
38	BIRC5	Baculoviral IAP Repeat Containing 5	Protein Coding	3
39	CRK	CRK Proto-Oncogene, Adaptor Protein	Protein Coding	3
40	ANGPTL1	Angiopoietin Like 1	Protein Coding	3
41	TIE1	Tyrosine Kinase With Immunoglobulin Like And EGF Like Domains 1	Protein Coding	3
42	ANGPT4	Angiopoietin 4	Protein Coding	3
43	TNF	Tumor Necrosis Factor	Protein Coding	3
44	IL12B	Interleukin 12B	Protein Coding	2
45	IL12RB1	Interleukin 12 Receptor Subunit Beta 1	Protein Coding	2
46	IL17A	Interleukin 17A	Protein Coding	2
47	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	2
48	STAT4	Signal Transducer And Activator Of Transcription 4	Protein Coding	2
49	IL23A	Interleukin 23 Subunit Alpha	Protein Coding	2
50	IL17F	Interleukin 17F	Protein Coding	2
51	IL23R	Interleukin 23 Receptor	Protein Coding	2
52	CASP9	Caspase 9	Protein Coding	2
53	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	2
54	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	2
55	RAC1	Rac Family Small GTPase 1	Protein Coding	2
56	PXN	Paxillin	Protein Coding	2
57	BAD	BCL2 Associated Agonist Of Cell Death	Protein Coding	2
58	MAPK8	Mitogen-Activated Protein Kinase 8	Protein Coding	2
59	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	2
60	NOS2	Nitric Oxide Synthase 2	Protein Coding	2
61	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	2
62	MMP2	Matrix Metallopeptidase 2	Protein Coding	2
63	ITGB1	Integrin Subunit Beta 1	Protein Coding	2
64	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	2
65	FN1	Fibronectin 1	Protein Coding	2
66	MAPK14	Mitogen-Activated Protein Kinase 14	Protein Coding	2
67	TNIP1	TNFAIP3 Interacting Protein 1	Protein Coding	2
68	TNIP2	TNFAIP3 Interacting Protein 2	Protein Coding	2
69	CDKN1A	Cyclin Dependent Kinase Inhibitor 1A	Protein Coding	2
70	ELF2	E74 Like ETS Transcription Factor 2	Protein Coding	2
71	NFKB2	Nuclear Factor Kappa B Subunit 2	Protein Coding	2
72	REL	REL Proto-Oncogene, NF-KB Subunit	Protein Coding	2
73	RELB	RELB Proto-Oncogene, NF-KB Subunit	Protein Coding	2
74	NOS3	Nitric Oxide Synthase 3	Protein Coding	2
75	RPS6KB1	Ribosomal Protein S6 Kinase B1	Protein Coding	2
76	SHC1	SHC Adaptor Protein 1	Protein Coding	2
77	JAK1	Janus Kinase 1	Protein Coding	2
78	RORC	RAR Related Orphan Receptor C	Protein Coding	1
79	CASP7	Caspase 7	Protein Coding	1
80	TP53	Tumor Protein P53	Protein Coding	1
81	RS1	Retinoschisin 1	Protein Coding	1
82	RAD51	RAD51 Recombinase	Protein Coding	1
83	BAX	BCL2 Associated X, Apoptosis Regulator	Protein Coding	1
84	MAPK13	Mitogen-Activated Protein Kinase 13	Protein Coding	1
85	MAPK9	Mitogen-Activated Protein Kinase 9	Protein Coding	1
86	MAPK11	Mitogen-Activated Protein Kinase 11	Protein Coding	1
87	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	1
88	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	1
89	NOS1	Nitric Oxide Synthase 1	Protein Coding	1
90	MSH2	MutS Homolog 2	Protein Coding	1
91	STMN1	Stathmin 1	Protein Coding	1
92	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	1
93	ERBB2	Erb-B2 Receptor Tyrosine Kinase 2	Protein Coding	1
94	EIF4EBP1	Eukaryotic Translation Initiation Factor 4E Binding Protein 1	Protein Coding	1
95	EGFR	Epidermal Growth Factor Receptor	Protein Coding	1
96	CTNNB1	Catenin Beta 1	Protein Coding	1
97	YAP1	Yes1 Associated Transcriptional Regulator	Protein Coding	1
98	TNIP3	TNFAIP3 Interacting Protein 3	Protein Coding	1
99	MAPK12	Mitogen-Activated Protein Kinase 12	Protein Coding	1
100	ARNT	Aryl Hydrocarbon Receptor Nuclear Translocator	Protein Coding	1
101	EPAS1	Endothelial PAS Domain Protein 1	Protein Coding	1
102	RIPK1	Receptor Interacting Serine/Threonine Kinase 1	Protein Coding	1
103	PLD2	Phospholipase D2	Protein Coding	1
104	ELF1	E74 Like ETS Transcription Factor 1	Protein Coding	1
105	ETS1	ETS Proto-Oncogene 1, Transcription Factor	Protein Coding	1
106	ELK1	ETS Transcription Factor ELK1	Protein Coding	1
107	BMX	BMX Non-Receptor Tyrosine Kinase	Protein Coding	1
108	PLG	Plasminogen	Protein Coding	1
109	F2	Coagulation Factor II, Thrombin	Protein Coding	1
110	ITGA5	Integrin Subunit Alpha 5	Protein Coding	1
111	FES	FES Proto-Oncogene, Tyrosine Kinase	Protein Coding	1
112	FYN	FYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
113	FGF2	Fibroblast Growth Factor 2	Protein Coding	1
114	AGTR1	Angiotensin II Receptor Type 1	Protein Coding	1
115	FOXO3	Forkhead Box O3	Protein Coding	1
116	IKBKE	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Epsilon	Protein Coding	1
117	NCK2	NCK Adaptor Protein 2	Protein Coding	1
118	PIK3R5	Phosphoinositide-3-Kinase Regulatory Subunit 5	Protein Coding	1
119	PAK2	P21 (RAC1) Activated Kinase 2	Protein Coding	1
120	PAK3	P21 (RAC1) Activated Kinase 3	Protein Coding	1
121	PAK4	P21 (RAC1) Activated Kinase 4	Protein Coding	1
122	PAK6	P21 (RAC1) Activated Kinase 6	Protein Coding	1
123	PAK5	P21 (RAC1) Activated Kinase 5	Protein Coding	1
124	PIK3R4	Phosphoinositide-3-Kinase Regulatory Subunit 4	Protein Coding	1
125	PTK2B	Protein Tyrosine Kinase 2 Beta	Protein Coding	1
126	FOS	Fos Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
127	PDGFA	Platelet Derived Growth Factor Subunit A	Protein Coding	1
128	PDGFB	Platelet Derived Growth Factor Subunit B	Protein Coding	1
129	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	Protein Coding	1
130	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	1
131	EIF2AK2	Eukaryotic Translation Initiation Factor 2 Alpha Kinase 2	Protein Coding	1
132	SOS2	SOS Ras/Rho Guanine Nucleotide Exchange Factor 2	Protein Coding	1
133	STAT6	Signal Transducer And Activator Of Transcription 6	Protein Coding	1
134	CXCL9	C-X-C Motif Chemokine Ligand 9	Protein Coding	1
135	CXCL1	C-X-C Motif Chemokine Ligand 1	Protein Coding	1
136	IL24	Interleukin 24	Protein Coding	1
137	IL19	Interleukin 19	Protein Coding	1
138	IL18RAP	Interleukin 18 Receptor Accessory Protein	Protein Coding	1
139	IL18R1	Interleukin 18 Receptor 1	Protein Coding	1
140	IL18	Interleukin 18	Protein Coding	1
141	IL1B	Interleukin 1 Beta	Protein Coding	1
142	CD3E	CD3 Epsilon Subunit Of T-Cell Receptor Complex	Protein Coding	1
143	IFNG	Interferon Gamma	Protein Coding	1
144	IL2	Interleukin 2	Protein Coding	1
145	CD4	CD4 Molecule	Protein Coding	1
146	CCL2	C-C Motif Chemokine Ligand 2	Protein Coding	1
147	IL6	Interleukin 6	Protein Coding	1
148	ALOX12B	Arachidonate 12-Lipoxygenase, 12R Type	Protein Coding	1
149	ITGA3	Integrin Subunit Alpha 3	Protein Coding	1
150	MPO	Myeloperoxidase	Protein Coding	1
151	BCL2	BCL2 Apoptosis Regulator	Protein Coding	1
152	BCL2L1	BCL2 Like 1	Protein Coding	1
153	CD14	CD14 Molecule	Protein Coding	1
154	CDKN2D	Cyclin Dependent Kinase Inhibitor 2D	Protein Coding	1
155	CSRP2	Cysteine And Glycine Rich Protein 2	Protein Coding	1
156	IL10	Interleukin 10	Protein Coding	1
157	IL10RA	Interleukin 10 Receptor Subunit Alpha	Protein Coding	1
158	IL10RB	Interleukin 10 Receptor Subunit Beta	Protein Coding	1
159	TIMP1	TIMP Metallopeptidase Inhibitor 1	Protein Coding	1
160	IRS2	Insulin Receptor Substrate 2	Protein Coding	1

Disorders associated with Immune response IL-23 signaling pathway SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Lung non-small cell carcinoma	Enrichment	EGFR, ERBB2, HRAS, KRAS, NRAS, PIK3CA	10.71
2	Colorectal cancer	Enrichment	AKT1, BAX, CTNNB1, ERBB2, MSH2, NRAS, PIK3CA, PIK3R1, SRC, TP53	10.53
3	Bladder cancer	Enrichment	CTNNB1, EGFR, ERBB2, HRAS, KRAS, PIK3CA, TP53	10.06
4	Noonan syndrome and noonan-related syndrome	Enrichment	HRAS, KRAS, NRAS, PTPN11, SOS1	8.10
5	Breast adenocarcinoma	Enrichment	AKT1, KRAS, PIK3CA, TP53	8.06
6	Nevus, epidermal	Enrichment	HRAS, KRAS, NRAS, PIK3CA	7.70
7	Noonan syndrome 3	Enrichment	HRAS, KRAS, PTPN11, SOS1	7.70
8	Gallbladder cancer	Enrichment	CTNNB1, KRAS, PIK3CA, TP53	7.70
9	Breast implant-associated anaplastic large cell lymphoma	Enrichment	JAK1, JAK2, STAT3	7.62
10	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3, PIK3CA, PIK3R2	7.45
11	Ovarian cancer	Enrichment	AKT1, CTNNB1, EGFR, ERBB2, KRAS, MSH2, PIK3CA, TP53	7.44
12	Arteriovenous malformation	Enrichment	HRAS, PIK3CA, RASA1, TEK	7.15
13	Hereditary breast carcinoma	Enrichment	AKT1, KRAS, MSH2, PIK3CA, RAD51, TP53	7.11
14	Noonan syndrome 1	Enrichment	HRAS, KRAS, NRAS, PTPN11, SOS1	7.07
15	Myopathy, x-linked, with excessive autophagy	Enrichment	HRAS, PIK3CA, RASA1, TEK	6.93
16	Rasopathy	Enrichment	HRAS, KRAS, NRAS, PTPN11, SOS1	6.78
17	Il10-related early-onset inflammatory bowel disease	Enrichment	IL10, IL10RA, IL10RB	6.76
18	Lip and oral cavity carcinoma	Enrichment	EGFR, HRAS, PIK3CA, TP53	6.56
19	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS, KRAS, NRAS	6.32
20	Lung cancer susceptibility 3	Enrichment	EGFR, ERBB2, KRAS, TP53	6.25
21	Gliosarcoma	Enrichment	EGFR, MSH2, NFKBIA, TP53	6.00
22	Giant cell glioblastoma	Enrichment	EGFR, MSH2, NFKBIA, TP53	5.88
23	Breast cancer	Enrichment	AKT1, KRAS, MSH2, PIK3CA, RAD51, TP53	5.71
24	Gastric cancer	Enrichment	ERBB2, KRAS, MSH2, PIK3CA, TP53	5.65
25	Lung squamous cell carcinoma	Enrichment	EGFR, KRAS, PIK3CA	5.62
26	Capillary malformation-arteriovenous malformation 1	Enrichment	KRAS, PIK3CA, RASA1	5.38
27	Meningioma	Enrichment	AKT1, PDGFB, PIK3CA	5.29
28	Adult hepatocellular carcinoma	Enrichment	CTNNB1, PIK3CA, TP53	5.00
29	Ectodermal dysplasia and immune deficiency	Enrichment	IKBKG, NFKBIA	4.93
30	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3CA, PIK3R1	4.88
31	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3CD, PIK3R1	4.88
32	Immunodeficiency 14	Enrichment	PIK3CD, PIK3R1	4.88
33	Human immunodeficiency virus type 1	Enrichment	CCL2, IFNG, IL19	4.83
34	Non-immune hydrops fetalis	Enrichment	ANGPT2, HRAS, KRAS, PTPN11	4.78
35	Lung cancer	Enrichment	EGFR, ERBB2, KRAS, PIK3CA	4.73
36	Ras-associated autoimmune leukoproliferative disorder	Enrichment	KRAS, NRAS	4.61
37	Juvenile myelomonocytic leukemia	Enrichment	KRAS, NRAS, PTPN11	4.59
38	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3, PIK3R2	4.58
39	Hemimegalencephaly	Enrichment	AKT3, PIK3CA	4.36
40	Lynch syndrome	Enrichment	KRAS, MSH2, PIK3CA	4.28
41	Rhabdomyosarcoma	Enrichment	HRAS, MSH2, TP53	4.19
42	Nasopharyngeal carcinoma	Enrichment	NFKBIA, TP53	4.13
43	Large congenital melanocytic nevus	Enrichment	HRAS, NRAS	4.13
44	Chronic mucocutaneous candidiasis	Enrichment	IL17F, STAT1	4.09
45	Primary hypereosinophilic syndrome	Enrichment	PDGFRA, PDGFRB	4.07
46	Diffuse large b-cell lymphoma	Enrichment	FOXO1, STAT3, TP53	3.96
47	Capillary malformations, congenital	Enrichment	PIK3CA, RASA1	3.95
48	Lung sarcomatoid carcinoma	Enrichment	KRAS, TP53	3.83
49	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	KRAS, NRAS	3.83
50	Hepatoblastoma	Enrichment	CTNNB1, MSH2, TP53	3.82
51	Cowden syndrome	Enrichment	AKT1, PIK3CA	3.80
52	Hereditary breast ovarian cancer syndrome	Enrichment	KRAS, MSH2, RAD51, TP53	3.79
53	Klippel-trenaunay-weber syndrome	Enrichment	PIK3CA, RASA1	3.78
54	Hepatocellular carcinoma	Enrichment	CTNNB1, PIK3CA, TP53	3.76
55	Myelofibrosis	Enrichment	JAK2, SRC	3.75
56	Common variable immunodeficiency	Enrichment	NFKB1, NFKB2	3.75
57	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3CD, PIK3R1	3.71
58	Basal ganglia calcification, idiopathic, 1	Enrichment	PDGFB, PDGFRB	3.63
59	Rhabdomyosarcoma 2	Enrichment	FOXO1, TP53	3.61
60	Lymphoma	Enrichment	PTPN11, TP53	3.61
61	Acute promyelocytic leukemia	Enrichment	STAT3, STAT5B	3.47
62	Cowden syndrome 1	Enrichment	EGFR, PIK3CA	3.44
63	Adrenocortical carcinoma	Enrichment	CTNNB1, TP53	3.44
64	Differentiated thyroid carcinoma	Enrichment	HRAS, KRAS, NRAS	3.40
65	Stroke, ischemic	Enrichment	F2, NOS3	3.30
66	Thyroid cancer, nonmedullary, 2	Enrichment	HRAS, NRAS	3.29
67	Squamous cell carcinoma, head and neck	Enrichment	EGFR, TP53	3.29
68	Leukemia, chronic myeloid	Enrichment	KRAS, NRAS	3.29
69	Follicular thyroid carcinoma	Enrichment	HRAS, NRAS	3.29
70	Alzheimer's disease	Enrichment	MPO, TNF	3.26
71	Melanocytic nevus syndrome, congenital	Enrichment	HRAS, NRAS	3.17
72	Glioma susceptibility 1	Enrichment	ERBB2, TP53	3.17
73	Behcet syndrome	Enrichment	IL23R, STAT4	3.05
74	Leukemia, acute myeloid	Enrichment	KRAS, NRAS, TP53	2.98
75	Familial colorectal cancer	Enrichment	MSH2, TP53	2.96
76	Specific learning disability	Enrichment	MAPK1, PTPN11	2.88
77	Hypertension, essential	Enrichment	AGTR1, NOS3	2.83
78	Malaria	Enrichment	NOS2, TNF	2.75
79	Macrodactyly	Enrichment	PIK3CA	2.67
80	Proteus syndrome	Enrichment	AKT1	2.67
81	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	2.67
82	Immunodeficiency 35	Enrichment	TYK2	2.67
83	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	2.67
84	Dermatitis, atopic, 4	Enrichment	SOCS3	2.67
85	Cowden syndrome 5	Enrichment	PIK3CA	2.67
86	Cerebral cavernous malformations 4	Enrichment	PIK3CA	2.67
87	Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant	Enrichment	STAT5B	2.67
88	Short syndrome	Enrichment	PIK3R1	2.67
89	Graft-versus-host disease	Enrichment	IL10	2.67
90	T-cell large granular lymphocyte leukemia	Enrichment	STAT3	2.67
91	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	2.67
92	Hemifacial myohyperplasia	Enrichment	PIK3CA	2.67
93	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	Enrichment	PIK3CA	2.67
94	Immunodeficiency 31a	Enrichment	STAT1	2.67
95	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	2.67
96	Cowden syndrome 6	Enrichment	AKT1	2.67
97	Immunodeficiency 14b, autosomal recessive	Enrichment	PIK3CD	2.67
98	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	2.67
99	Immunodeficiency 31b	Enrichment	STAT1	2.67
100	Autoimmune disease, multisystem, infantile-onset, 1	Enrichment	STAT3	2.67
101	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	2.67
102	Hypospadias	Enrichment	PIK3CA	2.67
103	Capillary hemangioma	Enrichment	AKT3	2.67
104	Stat3-related early-onset multisystem autoimmune disease	Enrichment	STAT3	2.67
105	Rare venous malformation	Enrichment	PIK3CA	2.67
106	Diaphragmatic eventration	Enrichment	PIK3CA	2.67
107	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	2.67
108	Rare combined vascular malformation	Enrichment	PIK3CA	2.67
109	Cavernous lymphangioma	Enrichment	PIK3CA	2.67
110	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	2.67
111	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	2.67
112	Chronic lymphoproliferative disorder of natural killer cells	Enrichment	STAT3	2.67
113	Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency	Enrichment	JAK1	2.67
114	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	2.67
115	Macrodactyly of toe	Enrichment	PIK3CA	2.67
116	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	2.67
117	Immunodeficiency 30	Enrichment	IL12RB1	2.63
118	Fetal encasement syndrome	Enrichment	CHUK	2.63
119	Candidiasis, familial, 6	Enrichment	IL17F	2.63
120	Immunodeficiency 15b	Enrichment	IKBKB	2.63
121	Immunodeficiency 15a	Enrichment	IKBKB	2.63
122	Disabling pansclerotic morphea of childhood	Enrichment	STAT4	2.63
123	Systemic lupus erythematosus 11	Enrichment	STAT4	2.63
124	Immunodeficiency 42	Enrichment	RORC	2.63
125	Psoriasis 7	Enrichment	IL23R	2.63
126	Immunodeficiency 29	Enrichment	IL12B	2.63
127	Inflammatory bowel disease 17	Enrichment	IL23R	2.63
128	Bartsocas-papas syndrome 2	Enrichment	CHUK	2.63
129	Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency	Enrichment	CHUK	2.63
130	Immunodeficiency 69	Enrichment	IFNG	2.56
131	Okt4 epitope deficiency	Enrichment	CD4	2.56
132	Immunodeficiency 18	Enrichment	CD3E	2.56
133	Immunodeficiency 79	Enrichment	CD4	2.56
134	Myeloma, multiple	Enrichment	KRAS, TP53, YAP1	2.56
135	Cystic angiomatosis of bone, diffuse	Enrichment	RASA1	2.53
136	Intellectual developmental disorder, x-linked 30	Enrichment	PAK3	2.53
137	Incontinentia pigmenti	Enrichment	IKBKG	2.53
138	Autoinflammatory disease, systemic, x-linked	Enrichment	IKBKG	2.53
139	Ataxia-oculomotor apraxia 3	Enrichment	PIK3R5	2.53
140	Angioedema, hereditary, 5	Enrichment	ANGPT1	2.53
141	Venous malformations, multiple cutaneous and mucosal	Enrichment	TEK	2.53
142	Knobloch syndrome 2	Enrichment	PAK2	2.53
143	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	Enrichment	PAK1	2.53
144	Ectodermal dysplasia and immunodeficiency 1	Enrichment	IKBKG	2.53
145	Glaucoma 3, primary congenital, e	Enrichment	TEK	2.53
146	Bockenheimer syndrome	Enrichment	TEK	2.53
147	Gorham's disease	Enrichment	RASA1	2.53
148	Premature aging syndrome, penttinen type	Enrichment	PDGFRB	2.53
149	Noonan syndrome 4	Enrichment	SOS1	2.53
150	Hypereosinophilic syndrome, idiopathic	Enrichment	PDGFRA	2.53
151	Basal ganglia calcification, idiopathic, 5	Enrichment	PDGFB	2.53
152	Myofibromatosis, infantile, 1	Enrichment	PDGFRB	2.53
153	Noonan syndrome 9	Enrichment	SOS2	2.53
154	Gist-plus syndrome	Enrichment	PDGFRA	2.53
155	Immunodeficiency 92	Enrichment	REL	2.53
156	Hyper-ige syndrome 6, autosomal dominant, with recurrent infections	Enrichment	STAT6	2.53
157	Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome	Enrichment	EIF2AK2	2.53
158	Myeloid and lymphoid neoplasms associated with pdgfra rearrangement	Enrichment	PDGFRA	2.53
159	Basal ganglia calcification, idiopathic, 4	Enrichment	PDGFRB	2.53
160	Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement	Enrichment	PDGFRB	2.53
161	Kosaki overgrowth syndrome	Enrichment	PDGFRB	2.53
162	Thrombocytopenia 6	Enrichment	SRC	2.53
163	Deficiency in anterior pituitary function - variable immunodeficiency syndrome	Enrichment	NFKB2	2.53
164	Immunodeficiency 53	Enrichment	RELB	2.53
165	Dystonia 33	Enrichment	EIF2AK2	2.53
166	Ocular pterygium-digital keloid dysplasia syndrome	Enrichment	PDGFRB	2.53
167	Phakomatosis pigmentokeratotica	Enrichment	HRAS	2.53
168	Systemic lupus erythematosus	Enrichment	IL10, TNF	2.51
169	Metachondromatosis	Enrichment	PTPN11	2.47
170	Prothrombin deficiency, congenital	Enrichment	F2	2.47
171	Leopard syndrome 1	Enrichment	PTPN11	2.47
172	Angioedema, hereditary, 4	Enrichment	PLG	2.47
173	Pregnancy loss, recurrent 2	Enrichment	F2	2.47
174	Prothrombin deficiency	Enrichment	F2	2.47
175	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	2.47
176	Malignant astrocytoma	Enrichment	PTPN11	2.47
177	Erythrocytosis, familial, 4	Enrichment	EPAS1	2.46
178	Autoinflammation with episodic fever and lymphadenopathy	Enrichment	RIPK1	2.46
179	Multiple paragangliomas associated with polycythemia	Enrichment	EPAS1	2.46
180	Type 2 diabetes mellitus	Enrichment	AKT2, IRS2	2.44
181	Arteriovenous malformations of the brain	Enrichment	EGFR, KRAS	2.40
182	Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive	Enrichment	STAT5B	2.37
183	Inflammatory bowel disease 28, autosomal recessive	Enrichment	IL10RA	2.37
184	Keratosis, seborrheic	Enrichment	PIK3CA	2.37
185	Roifman-chitayat syndrome	Enrichment	PIK3CD	2.37
186	Noonan syndrome 8	Enrichment	PIK3CA	2.37
187	Immunodeficiency 31c	Enrichment	STAT1	2.37
188	Intravascular large b-cell lymphoma	Enrichment	BCL2	2.37
189	Immunodeficiency 127	Enrichment	TNF	2.37
190	Senior-loken syndrome 7	Enrichment	AKT3	2.37
191	Rosette-forming glioneuronal tumor	Enrichment	PIK3CA	2.37
192	Inflammatory bowel disease 28	Enrichment	IL10RA	2.37
193	Autoinflammation, immune dysregulation, and eosinophilia	Enrichment	JAK1	2.37
194	Immune system disease	Enrichment	PIK3CD	2.37
195	Bardet-biedl syndrome 16	Enrichment	AKT3	2.37
196	Lymphomatoid papulosis	Enrichment	TYK2	2.37
197	Laron syndrome with immunodeficiency	Enrichment	STAT5B	2.37
198	Primary cutaneous anaplastic large cell lymphoma	Enrichment	TYK2	2.37
199	Inherited cancer-predisposing syndrome	Enrichment	EGFR, MSH2, PTPN11, TP53	2.37
200	Ectodermal dysplasia and immunodeficiency 2	Enrichment	NFKBIA	2.33
201	Immunodeficiency, common variable, 12, with autoimmunity	Enrichment	NFKB1	2.33
202	Thrombocythemia 3	Enrichment	JAK2	2.33
203	Autoinflammatory disease, familial, behcet-like 3	Enrichment	RELA	2.33
204	Rela fusion-positive ependymoma	Enrichment	RELA	2.33
205	Polycythemia	Enrichment	JAK2	2.33
206	Hypereosinophilic syndrome	Enrichment	JAK2	2.33
207	Common variable immunodeficiency 12	Enrichment	NFKB1	2.33
208	Endometrial cancer	Enrichment	MSH2, PIK3CA	2.31
209	Paget disease, extramammary	Enrichment	ERBB2	2.30
210	Pyloric stenosis, infantile hypertrophic, 1	Enrichment	NOS1	2.30
211	Oculoectodermal syndrome	Enrichment	KRAS	2.30
212	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development	Enrichment	YAP1	2.30
213	Mirror movements 2	Enrichment	RAD51	2.30
214	Melanosis, neurocutaneous	Enrichment	NRAS	2.30
215	Noonan syndrome 6	Enrichment	NRAS	2.30
216	Visceral neuropathy, familial, 2, autosomal recessive	Enrichment	ERBB2	2.30
217	Noonan syndrome 13	Enrichment	MAPK1	2.30
218	Fanconi anemia, complementation group r	Enrichment	RAD51	2.30
219	Bone marrow failure syndrome 5	Enrichment	TP53	2.30
220	Papilloma of choroid plexus	Enrichment	TP53	2.30
221	Basal cell carcinoma 7	Enrichment	TP53	2.30
222	Anaplastic thyroid carcinoma	Enrichment	TP53	2.30
223	Uveal coloboma-cleft lip and palate-intellectual disability	Enrichment	YAP1	2.30
224	Cardiofaciocutaneous syndrome 2	Enrichment	KRAS	2.30
225	Ductal carcinoma in situ	Enrichment	TP53	2.30
226	Mismatch repair cancer syndrome 2	Enrichment	MSH2	2.30
227	Rectal benign neoplasm	Enrichment	MSH2	2.30
228	Thyroid gland undifferentiated carcinoma	Enrichment	TP53	2.30
229	Small-cell carcinoma of the ovary of hypercalcemic type	Enrichment	TP53	2.30
230	Adenoid ameloblastoma	Enrichment	CTNNB1	2.30
231	Ascending colon cancer	Enrichment	MSH2	2.30
232	Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype	Enrichment	TP53	2.30
233	Congenital pulmonary airway malformation	Enrichment	KRAS	2.30
234	Choroid plexus cancer	Enrichment	TP53	2.30
235	Ovarian cyst	Enrichment	MSH2	2.30
236	Pleomorphic xanthoastrocytoma	Enrichment	TP53	2.30
237	Serous carcinoma of the corpus uteri	Enrichment	ERBB2	2.30
238	Neurocutaneous melanocytosis	Enrichment	NRAS	2.30
239	Microcystic stromal tumor	Enrichment	CTNNB1	2.30
240	Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	Enrichment	ITGA3	2.26
241	Blue rubber bleb nevus	Enrichment	TEK	2.23
242	Immunodeficiency 33	Enrichment	IKBKG	2.23
243	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Enrichment	PIK3R5	2.23
244	Lymphatic malformation 11	Enrichment	TIE1	2.23
245	Glucosephosphate dehydrogenase deficiency	Enrichment	IKBKG	2.23
246	Lymphatic malformation 10	Enrichment	ANGPT2	2.23
247	Burkitt lymphoma	Enrichment	MYC	2.23
248	Myeloproliferative disorder, chronic, with eosinophilia	Enrichment	PDGFRB	2.23
249	Fibromatosis, gingival, 1	Enrichment	SOS1	2.23
250	Costello syndrome	Enrichment	HRAS	2.23
251	Hemangiopericytoma, malignant	Enrichment	STAT6	2.23
252	Dermatofibrosarcoma protuberans	Enrichment	PDGFB	2.23
253	Pulmonic stenosis	Enrichment	SOS1	2.23
254	Immunodeficiency, common variable, 10	Enrichment	NFKB2	2.23
255	Infantile myofibromatosis	Enrichment	PDGFRB	2.23
256	Chronic eosinophilic leukemia	Enrichment	PDGFRA	2.23
257	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality	Enrichment	PDGFRA	2.23
258	Wooly hair nevus	Enrichment	HRAS	2.23
259	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	STAT3	2.19
260	Pompe disease, infantile-onset	Enrichment	PIK3CA	2.19
261	Psoriatic arthritis	Enrichment	TNF	2.19
262	Hyper ige syndrome	Enrichment	STAT3	2.19
263	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	BCL2	2.19
264	Inflammatory bowel disease 25	Enrichment	IL10RB	2.19
265	Migraine without aura	Enrichment	TNF	2.19
266	Keratoacanthoma	Enrichment	PIK3CA	2.19
267	Spondyloepimetaphyseal dysplasia, strudwick type	Enrichment	FN1	2.17
268	Spondylometaphyseal dysplasia, corner fracture type	Enrichment	FN1	2.17
269	Plasminogen deficiency, type i	Enrichment	PLG	2.17
270	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	Enrichment	ELF2	2.17
271	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	2.17
272	Werner syndrome	Enrichment	PTPN11	2.17
273	Hereditary angioedema	Enrichment	PLG	2.17
274	Pancreatic cancer	Enrichment	KRAS, TP53	2.16
275	Erythrocytosis, familial, 3	Enrichment	EPAS1	2.16
276	Immunodeficiency 57 with autoinflammation	Enrichment	RIPK1	2.16
277	Takayasu arteritis	Enrichment	IL12B	2.15
278	Polycythemia vera	Enrichment	JAK2	2.15
279	Hydrops fetalis, nonimmune	Enrichment	HRAS, PTPN11	2.13
280	Tuberous sclerosis 1	Enrichment	IFNG	2.09
281	Hepatitis c virus	Enrichment	IFNG	2.09
282	Tuberous sclerosis 2	Enrichment	IFNG	2.09
283	T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta	Enrichment	CD3E	2.09
284	Self-improving collodion baby	Enrichment	ALOX12B	2.09
285	Hepatitis b	Enrichment	IL10RB	2.07
286	Cerebrovascular disease	Enrichment	PIK3CA	2.07
287	Familial cerebral cavernous malformations	Enrichment	PIK3CA	2.07
288	Cerebral malaria	Enrichment	TNF	2.07
289	Wieacker-wolff syndrome	Enrichment	RASA1	2.05
290	Nuchal bleb, familial	Enrichment	SOS1	2.05
291	Torsion dystonia 1	Enrichment	EIF2AK2	2.05
292	Spermatocytoma	Enrichment	HRAS	2.05
293	Prostate cancer	Enrichment	PIK3CA, TP53	2.04
294	Erythrocytosis, familial, 1	Enrichment	JAK2	2.03
295	Budd-chiari syndrome	Enrichment	JAK2	2.03
296	Pediatric systemic lupus erythematosus	Enrichment	STAT4	2.03
297	Muir-torre syndrome	Enrichment	MSH2	2.00
298	Adrenocortical carcinoma, hereditary	Enrichment	TP53	2.00
299	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	2.00
300	Cervical cancer	Enrichment	TP53	2.00
301	Retinoschisis 1, x-linked, juvenile	Enrichment	RS1	2.00
302	Encephalocraniocutaneous lipomatosis	Enrichment	KRAS	2.00
303	Lymphoma, hodgkin, classic	Enrichment	TP53	2.00
304	Childhood hepatocellular carcinoma	Enrichment	CTNNB1	2.00
305	Congenital fibrosarcoma	Enrichment	TP53	2.00
306	Li-fraumeni syndrome 1	Enrichment	TP53	2.00
307	Sarcoma	Enrichment	TP53	2.00
308	Cervix carcinoma	Enrichment	TP53	2.00
309	Hodgkin's lymphoma	Enrichment	TP53	2.00
310	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	2.00
311	Teratoma	Enrichment	CTNNB1	2.00
312	Retinoschisis	Enrichment	RS1	2.00
313	Pleomorphic rhabdomyosarcoma	Enrichment	TP53	2.00
314	Jacobsen syndrome	Enrichment	ETS1	1.99
315	Angioedema, hereditary, 1	Enrichment	PLG	1.99
316	Glomerulopathy with fibronectin deposits 2	Enrichment	FN1	1.99
317	Multicentric osteolysis, nodulosis, and arthropathy	Enrichment	MMP2	1.99
318	Tricuspid valve insufficiency	Enrichment	PTPN11	1.99
319	Cerebral sinovenous thrombosis	Enrichment	F2	1.99
320	Follicular lymphoma	Enrichment	BCL2	1.97
321	Vascular dementia	Enrichment	TNF	1.97
322	Kaposi sarcoma	Enrichment	IL6	1.96
323	Myeloperoxidase deficiency	Enrichment	MPO	1.96
324	Systemic-onset juvenile idiopathic arthritis	Enrichment	IL6	1.96
325	Myeloproliferative neoplasm	Enrichment	JAK2	1.93
326	Glaucoma 3, primary infantile, b	Enrichment	TEK	1.93
327	Knobloch syndrome	Enrichment	PAK2	1.93
328	Hereditary angioedema with normal c1inh not related to f12 or plg variant	Enrichment	ANGPT1	1.93
329	Immunodeficiency, common variable, 1	Enrichment	NFKB2	1.93
330	Congenital generalized lipodystrophy	Enrichment	FOS	1.93
331	Epidermolytic nevus	Enrichment	HRAS	1.93
332	Gingival fibromatosis	Enrichment	SOS1	1.93
333	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	SOS2	1.93
334	Hemihyperplasia, isolated	Enrichment	PIK3CA	1.89
335	Inflammatory bowel disease 25, autosomal recessive	Enrichment	IL10RB	1.89
336	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	PTPN11	1.87
337	Noonan syndrome with multiple lentigines	Enrichment	PTPN11	1.87
338	Ichthyosis, congenital, autosomal recessive 2	Enrichment	ALOX12B	1.87
339	Rheumatoid arthritis, systemic juvenile	Enrichment	IL6	1.87
340	Idiopathic aplastic anemia	Enrichment	IFNG	1.87
341	Alzheimer disease 2	Enrichment	NOS3	1.83
342	Microcephaly 1, primary, autosomal recessive	Enrichment	ANGPT2	1.83
343	Anemia, congenital, nonspherocytic hemolytic, 1	Enrichment	IKBKG	1.83
344	Knobloch syndrome 1	Enrichment	PAK2	1.83
345	Mosaic variegated aneuploidy syndrome 1	Enrichment	PAK6	1.83
346	Pre-eclampsia	Enrichment	NOS3	1.83
347	Histiocytoid hemangioma	Enrichment	FOS	1.83
348	Megacolon	Enrichment	AKT3	1.83
349	Overgrowth syndrome	Enrichment	PIK3R1	1.83
350	Desmoid disease, hereditary	Enrichment	CTNNB1	1.82
351	Langerhans cell histiocytosis	Enrichment	NRAS	1.82
352	Osteogenic sarcoma	Enrichment	TP53	1.82
353	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	1.82
354	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	1.82
355	Anus, imperforate	Enrichment	CTNNB1	1.82
356	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	1.82
357	Desmoid tumor	Enrichment	CTNNB1	1.82
358	Atypical teratoid rhabdoid tumor	Enrichment	TP53	1.82
359	Anaplastic astrocytoma	Enrichment	TP53	1.82
360	Squamous cell carcinoma	Enrichment	TP53	1.82
361	Cellular ependymoma	Enrichment	MSH2	1.82
362	Tanycytic ependymoma	Enrichment	MSH2	1.82
363	Papillary ependymoma	Enrichment	MSH2	1.82
364	T-cell acute lymphoblastic leukemia	Enrichment	BAX	1.82
365	Adenocarcinoma	Enrichment	TP53	1.82
366	Bone osteosarcoma	Enrichment	TP53	1.82
367	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	1.82
368	Clear cell ependymoma	Enrichment	MSH2	1.82
369	Type 1 diabetes mellitus	Enrichment	IL6	1.79
370	Essential thrombocythemia	Enrichment	JAK2	1.79
371	Oligoarticular juvenile idiopathic arthritis	Enrichment	STAT4	1.79
372	Rheumatoid factor-negative juvenile idiopathic arthritis	Enrichment	STAT4	1.79
373	Permanent neonatal diabetes mellitus	Enrichment	STAT3	1.77
374	Telangiectasia, hereditary hemorrhagic, type 1	Enrichment	RASA1	1.76
375	Hemangioma, capillary infantile	Enrichment	RASA1	1.76
376	Basal cell carcinoma 1	Enrichment	RASA1	1.76
377	Leukoencephalopathy, brain calcifications, and cysts	Enrichment	ALOX12B	1.72
378	Alzheimer's disease 1	Enrichment	MPO	1.72
379	Rheumatoid arthritis	Enrichment	IL10	1.72
380	Mirror movements 1	Enrichment	RAD51	1.70
381	Cardiofaciocutaneous syndrome 1	Enrichment	KRAS	1.70
382	Diffuse gastric and lobular breast cancer syndrome	Enrichment	KRAS	1.70
383	Small cell cancer of the lung	Enrichment	TP53	1.70
384	Thyroid cancer, nonmedullary, 1	Enrichment	TP53	1.70
385	Mismatch repair cancer syndrome 1	Enrichment	MSH2	1.70
386	Nicolaides-baraitser syndrome	Enrichment	RS1	1.70
387	Developmental and epileptic encephalopathy 2	Enrichment	RS1	1.70
388	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.70
389	Pilomatrixoma	Enrichment	CTNNB1	1.70
390	Barrett esophagus	Enrichment	ERBB2	1.70
391	Lynch syndrome 4	Enrichment	MSH2	1.70
392	Alazami syndrome	Enrichment	CTNNB1	1.70
393	Cardiofaciocutaneous syndrome	Enrichment	KRAS	1.70
394	Malignant epithelioid hemangioendothelioma	Enrichment	YAP1	1.70
395	Embryonal rhabdomyosarcoma	Enrichment	TP53	1.70
396	Craniopharyngioma	Enrichment	CTNNB1	1.70
397	Pilocytic astrocytoma	Enrichment	KRAS	1.70
398	Idiopathic achalasia	Enrichment	NOS1	1.70
399	Smarca2-related nicolaides-baraitser syndrome	Enrichment	RS1	1.70
400	Benign ependymoma	Enrichment	MSH2	1.70
401	Renal tubular dysgenesis	Enrichment	AGTR1	1.70
402	Patent ductus arteriosus	Enrichment	PTPN11	1.70
403	Glaucoma 3, primary congenital, a	Enrichment	TEK	1.69
404	Hereditary hemorrhagic telangiectasia	Enrichment	RASA1	1.69
405	Gastrointestinal stromal tumor	Enrichment	PDGFRA	1.69
406	Autosomal dominant secondary polycythemia	Enrichment	EPAS1	1.69
407	Sporadic pheochromocytoma/secreting paraganglioma	Enrichment	EPAS1	1.69
408	Leukemia, acute lymphoblastic 3	Enrichment	JAK2	1.68
409	Primary biliary cholangitis	Enrichment	IL12RB1	1.68
410	Polymicrogyria	Enrichment	AKT3	1.67
411	Asthma	Enrichment	TNF	1.63
412	Ciliary dyskinesia, primary, 3	Enrichment	NFKB1	1.63
413	Mosaic variegated aneuploidy syndrome	Enrichment	PAK6	1.63
414	Multiple endocrine neoplasia, type i	Enrichment	CDKN1A	1.63
415	Thrombophilia due to thrombin defect	Enrichment	F2	1.63
416	Microcephaly	Enrichment	CTNNB1, MAPK1, PTPN11	1.62
417	Thrombocytopenia	Enrichment	PTPN11, SRC	1.62
418	Inflammatory bowel disease 1	Enrichment	IL6	1.61
419	Exudative vitreoretinopathy 1	Enrichment	CTNNB1	1.61
420	Glioblastoma	Enrichment	MSH2	1.61
421	Acute megakaryocytic leukemia	Enrichment	TP53	1.61
422	Coronary heart disease 5	Enrichment	IKBKG	1.58
423	Ventricular septal defect	Enrichment	TEK	1.58
424	Aplastic anemia	Enrichment	IFNG	1.57
425	Congenital nonbullous ichthyosiform erythroderma	Enrichment	ALOX12B	1.57
426	Nk-cell enteropathy	Enrichment	PIK3CB	1.56
427	Ichthyosis	Enrichment	ALOX12B	1.53
428	Li-fraumeni syndrome	Enrichment	TP53	1.53
429	Weyers acrofacial dysostosis	Enrichment	CTNNB1	1.53
430	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	RAC1	1.52
431	Meningioma, familial	Enrichment	PDGFB	1.50
432	Esophageal cancer	Enrichment	TP53	1.46
433	Pilomyxoid astrocytoma	Enrichment	KRAS	1.46
434	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	TP53	1.46
435	Pectus excavatum	Enrichment	PTPN11	1.44
436	Immune deficiency disease	Enrichment	RIPK1	1.43
437	Aortic valve disease 1	Enrichment	SOS1	1.42
438	Lymphoma, non-hodgkin, familial	Enrichment	TP53	1.40
439	Exudative vitreoretinopathy	Enrichment	CTNNB1	1.40
440	Epicanthus	Enrichment	PTPN11	1.40
441	Congenital long qt syndrome	Enrichment	PTPN11	1.40
442	Autosomal recessive congenital ichthyosis	Enrichment	ALOX12B	1.40
443	Osteoporosis	Enrichment	SRC	1.39
444	Cleft lip/palate	Enrichment	PDGFRA	1.39
445	46,xy partial gonadal dysgenesis	Enrichment	SOS1	1.39
446	Neural tube defects	Enrichment	ITGB1	1.36
447	Hydrocephalus	Enrichment	PDGFRB	1.36
448	Primary hyperaldosteronism	Enrichment	TP53	1.35
449	Alzheimer disease, familial, 1	Enrichment	MPO	1.34
450	Dandy-walker syndrome	Enrichment	PDGFRB	1.31
451	Lynch syndrome 1	Enrichment	MSH2	1.31
452	Leukemia, chronic lymphocytic	Enrichment	TP53	1.31
453	Myelodysplastic syndrome	Enrichment	TP53	1.27
454	Uterine corpus cancer	Enrichment	MSH2	1.27
455	Patent foramen ovale	Enrichment	PTPN11	1.23
456	Severe covid-19	Enrichment	IL10RB	1.22
457	Microphthalmia/coloboma 12	Enrichment	YAP1	1.20
458	Breast-ovarian cancer, familial 1	Enrichment	MSH2	1.20
459	Protein-deficiency anemia	Enrichment	NRAS	1.20
460	Precursor t-cell acute lymphoblastic leukemia	Enrichment	MYC	1.18
461	Medulloblastoma	Enrichment	CTNNB1	1.17
462	Coloboma of macula	Enrichment	YAP1	1.14
463	Severe combined immunodeficiency	Enrichment	IKBKB	1.12
464	Scoliosis	Enrichment	PTPN11	1.11
465	Polycystic liver disease	Enrichment	CTNNB1	1.09
466	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1	1.09
467	Heart, malformation of	Enrichment	MAPK1	1.06
468	Strabismus	Enrichment	PTPN11	1.06
469	Primary autosomal recessive microcephaly	Enrichment	ANGPT2	1.04
470	Long qt syndrome 1	Enrichment	PTPN11	1.01
471	Cystic fibrosis	Enrichment	PLG	0.99
472	Hypertelorism	Enrichment	PIK3CA	0.98
473	Cerebral palsy	Enrichment	PDGFRB	0.96
474	Diamond-blackfan anemia 1	Enrichment	TP53	0.96
475	Nephrotic syndrome	Enrichment	ITGA3	0.95
476	Primary ovarian insufficiency	Enrichment	JAK2	0.88
477	Hirschsprung disease 1	Enrichment	ERBB2	0.87
478	Hypertrophic cardiomyopathy	Enrichment	PTPN11	0.87
479	Fanconi anemia, complementation group a	Enrichment	RAD51	0.79
480	Diamond-blackfan anemia	Enrichment	TP53	0.78
481	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	PTPN11	0.76
482	Complex neurodevelopmental disorder	Enrichment	PAK3	0.51
483	Autism spectrum disorder	Enrichment	PTPN11	0.51
484	Congenital nervous system abnormality	Enrichment	CTNNB1	0.38
485	Nervous system disease	Enrichment	CTNNB1	0.38
486	Hereditary retinal dystrophy	Enrichment	RS1	0.11
487	Fundus dystrophy	Enrichment	RS1	0.11

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

Immune response IL-23 signaling pathway

Pathway Network for Immune response IL-23 signaling pathway

Pathway network for the Immune response IL-23 signaling pathway SuperPath

Member Pathways for Immune response IL-23 signaling pathway

Pathways in the Immune response IL-23 signaling pathway SuperPath

Gene overlap in member pathways for Immune response IL-23 signaling pathway SuperPath

Associated Genes for Immune response IL-23 signaling pathway

Associated Disorders for Immune response IL-23 signaling pathway

Disorders associated with Immune response IL-23 signaling pathway SuperPath

STRING Interaction Network for Immune response IL-23 signaling pathway

Sources for Immune response IL-23 signaling pathway