4-1BB Pathway

Pathway network for the 4-1BB Pathway SuperPath

Sources:

QIAGEN

Pathways in the 4-1BB Pathway SuperPath

#	Name	Source	Genes
1	4-1BB Pathway	QIAGEN	ATF2 CHUK IKBKB IKBKE IKBKG JUN MAP2K1 MAP2K2 MAP2K3 MAP2K4 MAP2K5 MAP2K6 MAP2K7 MAP3K14 MAP3K5 MAPK1 MAPK10 MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 MAPK4 MAPK6 MAPK7 MAPK8 MAPK9 NFKB1 NFKBIA NFKBIB NFKBIE TNFRSF9 TNFSF9 TRAF1 TRAF2 (see all 35) (see less)
2	SUMO Pathway	QIAGEN	ATF4 CHUK CREB1 CREB3 CREB3L4 CREBBP DAXX FAS FASLG HRAS IKBKB IKBKE IKBKG IL1A IL1B IL1R1 KRAS LTA MAP2K1 MAP2K2 MAP2K3 MAP2K4 MAP2K5 MAP2K6 MAP2K7 MAPK1 MAPK10 MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 MAPK8 MAPK9 MRAS NFKB1 NFKBIA NFKBIB NFKBIE NRAS PIAS1 PIAS4 PML RAN RANBP1 RANBP2 RANGAP1 RCC1 RRAS RRAS2 SAE1 SIRT1 SIRT2 SIRT3 SIRT4 SIRT5 SIRT6 SIRT7 SP100 SUMO1 SUMO2 SUMO3 TNF TNFRSF1A TNFRSF1B TP53 UBA2 UBE2I (see all 68) (see less)
3	PKR Pathway	QIAGEN	ATF2 CHUK EIF2AK2 EIF2S1 FOS IFNG IFNGR1 IKBKB IKBKE IKBKG JUN MAP2K1 MAP2K2 MAP2K3 MAP2K4 MAP2K5 MAP2K6 MAP2K7 MAPK10 MAPK11 MAPK12 MAPK13 MAPK14 MAPK8 MAPK9 NFKB1 NFKBIA NFKBIB NFKBIE PDGFA PDGFB PDGFC PDGFD PDGFRA PDGFRB PPP2CA PPP2CB PPP2R1A PPP2R1B PPP2R2A PPP2R2B PPP2R2C PPP2R3A PPP2R3B PPP2R5A PPP2R5B PPP2R5C PPP2R5E PRKRA PTPA REL RELA STAT1 STAT3 TP53 (see all 55) (see less)
4	NF-KappaB Activation by EBV	QIAGEN	ATF2 CD40 CD40LG CHUK CR2 EGF EGFR FOS IKBKB IKBKE IKBKG JUN MAP2K4 MAP2K6 MAP3K14 MAPK10 MAPK11 MAPK12 MAPK13 MAPK14 MAPK8 MAPK9 NFKB1 NFKBIA PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 POLR2A POLR2B POLR2C PRKCA PRKCB PRKCD PRKCE PRKCG PRKCH PRKCI PRKCQ PRKCZ PRKD1 PRKD3 TBP TRADD TRAF1 TRAF2 TRAF3 TRAF6 (see all 49) (see less)
5	NF-kappaB Activation by Viruses	QIAGEN	AKT1 ARAF BRAF CCR5 CD4 CHUK CR2 CXCR4 EIF2AK2 HRAS IKBKB IKBKE IKBKG KRAS LCK MAP3K14 MAPK1 MAPK3 MRAS NFKB1 NFKBIA NFKBIB NRAS PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 POLR2A POLR2B POLR2C PRKCA PRKCB PRKCD PRKCE PRKCG PRKCH PRKCI PRKCQ PRKCZ PRKD1 PRKD3 RAF1 RELA RIPK1 RRAS RRAS2 TBP TRAF2 (see all 49) (see less)
6	CD40 Signaling	QIAGEN	CD40 CD40LG CHUK IKBKB IKBKE IKBKG JAK3 MAP2K1 MAP2K2 MAP2K3 MAP2K4 MAP2K5 MAP2K6 MAP2K7 MAP3K14 MAP3K7 MAPK1 MAPK10 MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 MAPK8 MAPK9 NFKB1 NFKBIA NFKBIB NFKBIE PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 STAT3 TNFAIP3 TRAF1 TRAF2 TRAF3 TRAF3IP2 TRAF5 TRAF6 (see all 42) (see less)
7	TNFR2 Pathway	QIAGEN	BIRC2 BIRC3 CHUK IKBKB IKBKE IKBKG JUN LTA MAP3K1 MAP3K10 MAP3K11 MAP3K12 MAP3K13 MAP3K14 MAP3K2 MAP3K3 MAP3K4 MAP3K5 MAP3K6 MAP3K7 MAP3K8 MAP3K9 MAPK10 MAPK8 MAPK9 NFKB1 NFKBIA NFKBIB NFKBIE TANK TBK1 TNF TNFAIP3 TNFRSF1B TRAF1 TRAF2 TRAF3 (see all 37) (see less)
8	CMV and MAPK Pathways	QIAGEN	AKT1 ATF4 CHUK CREB1 CREB3 CREB3L4 IKBKB IKBKE IKBKG MAP2K1 MAP2K2 MAP2K3 MAP2K6 MAPK1 MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 NFKB1 NFKBIA NFKBIB NFKBIE PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 RB1 RPS6KB1 SP1 (see all 31) (see less)
9	CD27 Pathway	QIAGEN	CASP3 CD27 CD70 CHUK FOS IKBKB IKBKE IKBKG JUN MAP2K1 MAP2K2 MAP2K3 MAP2K4 MAP2K5 MAP2K6 MAP3K14 MAP3K2 MAP3K3 MAP3K4 MAP3K5 MAPK10 MAPK8 MAPK9 NFKB1 NFKBIA NFKBIB NFKBIE SIVA1 TRAF2 TRAF5 (see all 30) (see less)

Gene overlap in member pathways for 4-1BB Pathway SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	CHUK	Component Of Inhibitor Of Nuclear Factor Kappa B Kinase Complex	Protein Coding	9
2	IKBKB	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta	Protein Coding	9
3	IKBKE	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Epsilon	Protein Coding	9
4	IKBKG	Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma	Protein Coding	9
5	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	9
6	NFKBIA	NFKB Inhibitor Alpha	Protein Coding	9
7	NFKBIB	NFKB Inhibitor Beta	Protein Coding	8
8	MAP2K6	Mitogen-Activated Protein Kinase Kinase 6	Protein Coding	7
9	MAPK10	Mitogen-Activated Protein Kinase 10	Protein Coding	7
10	MAPK8	Mitogen-Activated Protein Kinase 8	Protein Coding	7
11	MAPK9	Mitogen-Activated Protein Kinase 9	Protein Coding	7
12	NFKBIE	NFKB Inhibitor Epsilon	Protein Coding	7
13	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	6
14	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	6
15	MAP2K3	Mitogen-Activated Protein Kinase Kinase 3	Protein Coding	6
16	MAP2K4	Mitogen-Activated Protein Kinase Kinase 4	Protein Coding	6
17	MAP3K14	Mitogen-Activated Protein Kinase Kinase Kinase 14	Protein Coding	6
18	MAPK11	Mitogen-Activated Protein Kinase 11	Protein Coding	6
19	MAPK12	Mitogen-Activated Protein Kinase 12	Protein Coding	6
20	MAPK13	Mitogen-Activated Protein Kinase 13	Protein Coding	6
21	MAPK14	Mitogen-Activated Protein Kinase 14	Protein Coding	6
22	TRAF2	TNF Receptor Associated Factor 2	Protein Coding	6
23	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	5
24	MAP2K5	Mitogen-Activated Protein Kinase Kinase 5	Protein Coding	5
25	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	5
26	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	5
27	MAP2K7	Mitogen-Activated Protein Kinase Kinase 7	Protein Coding	4
28	TRAF1	TNF Receptor Associated Factor 1	Protein Coding	4
29	PIK3R5	Phosphoinositide-3-Kinase Regulatory Subunit 5	Protein Coding	4
30	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	4
31	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	4
32	PIK3R3	Phosphoinositide-3-Kinase Regulatory Subunit 3	Protein Coding	4
33	PIK3R4	Phosphoinositide-3-Kinase Regulatory Subunit 4	Protein Coding	4
34	ATF2	Activating Transcription Factor 2	Protein Coding	3
35	MAP3K5	Mitogen-Activated Protein Kinase Kinase Kinase 5	Protein Coding	3
36	FOS	Fos Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	3
37	TRAF3	TNF Receptor Associated Factor 3	Protein Coding	3
38	ATF4	Activating Transcription Factor 4	Protein Coding	2
39	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	2
40	CREB3	CAMP Responsive Element Binding Protein 3	Protein Coding	2
41	CREB3L4	CAMP Responsive Element Binding Protein 3 Like 4	Protein Coding	2
42	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	2
43	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	2
44	LTA	Lymphotoxin Alpha	Protein Coding	2
45	MRAS	Muscle RAS Oncogene Homolog	Protein Coding	2
46	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	2
47	RRAS	RAS Related	Protein Coding	2
48	RRAS2	RAS Related 2	Protein Coding	2
49	TNF	Tumor Necrosis Factor	Protein Coding	2
50	TNFRSF1B	TNF Receptor Superfamily Member 1B	Protein Coding	2
51	TP53	Tumor Protein P53	Protein Coding	2
52	EIF2AK2	Eukaryotic Translation Initiation Factor 2 Alpha Kinase 2	Protein Coding	2
53	RELA	RELA Proto-Oncogene, NF-KB Subunit	Protein Coding	2
54	STAT3	Signal Transducer And Activator Of Transcription 3	Protein Coding	2
55	CR2	Complement C3d Receptor 2	Protein Coding	2
56	POLR2A	RNA Polymerase II Subunit A	Protein Coding	2
57	POLR2B	RNA Polymerase II Subunit B	Protein Coding	2
58	POLR2C	RNA Polymerase II Subunit C	Protein Coding	2
59	PRKCA	Protein Kinase C Alpha	Protein Coding	2
60	PRKCB	Protein Kinase C Beta	Protein Coding	2
61	PRKCD	Protein Kinase C Delta	Protein Coding	2
62	PRKCE	Protein Kinase C Epsilon	Protein Coding	2
63	PRKCG	Protein Kinase C Gamma	Protein Coding	2
64	PRKCH	Protein Kinase C Eta	Protein Coding	2
65	PRKCI	Protein Kinase C Iota	Protein Coding	2
66	PRKD1	Protein Kinase D1	Protein Coding	2
67	PRKD3	Protein Kinase D3	Protein Coding	2
68	PRKCQ	Protein Kinase C Theta	Protein Coding	2
69	PRKCZ	Protein Kinase C Zeta	Protein Coding	2
70	TBP	TATA-Box Binding Protein	Protein Coding	2
71	CD40	CD40 Molecule	Protein Coding	2
72	CD40LG	CD40 Ligand	Protein Coding	2
73	TRAF6	TNF Receptor Associated Factor 6	Protein Coding	2
74	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	2
75	MAP3K7	Mitogen-Activated Protein Kinase Kinase Kinase 7	Protein Coding	2
76	TNFAIP3	TNF Alpha Induced Protein 3	Protein Coding	2
77	TRAF5	TNF Receptor Associated Factor 5	Protein Coding	2
78	MAP3K2	Mitogen-Activated Protein Kinase Kinase Kinase 2	Protein Coding	2
79	MAP3K3	Mitogen-Activated Protein Kinase Kinase Kinase 3	Protein Coding	2
80	MAP3K4	Mitogen-Activated Protein Kinase Kinase Kinase 4	Protein Coding	2
81	MAPK4	Mitogen-Activated Protein Kinase 4	Protein Coding	1
82	MAPK6	Mitogen-Activated Protein Kinase 6	Protein Coding	1
83	MAPK7	Mitogen-Activated Protein Kinase 7	Protein Coding	1
84	TNFRSF9	TNF Receptor Superfamily Member 9	Protein Coding	1
85	TNFSF9	TNF Superfamily Member 9	Protein Coding	1
86	RCC1	Regulator Of Chromosome Condensation 1	Protein Coding	1
87	CREBBP	CREB Binding Lysine Acetyltransferase	Protein Coding	1
88	DAXX	Death Domain Associated Protein	Protein Coding	1
89	IL1A	Interleukin 1 Alpha	Protein Coding	1
90	IL1B	Interleukin 1 Beta	Protein Coding	1
91	IL1R1	Interleukin 1 Receptor Type 1	Protein Coding	1
92	PIAS1	Protein Inhibitor Of Activated STAT 1	Protein Coding	1
93	PIAS4	Protein Inhibitor Of Activated STAT 4	Protein Coding	1
94	PML	PML Nuclear Body Scaffold	Protein Coding	1
95	RAN	RAN, Member RAS Oncogene Family	Protein Coding	1
96	RANBP1	RAN Binding Protein 1	Protein Coding	1
97	RANBP2	RAN Binding Protein 2	Protein Coding	1
98	RANGAP1	Ran GTPase Activating Protein 1	Protein Coding	1
99	SAE1	SUMO1 Activating Enzyme Subunit 1	Protein Coding	1
100	SIRT1	Sirtuin 1	Protein Coding	1
101	SIRT2	Sirtuin 2	Protein Coding	1
102	SIRT3	Sirtuin 3	Protein Coding	1
103	SIRT4	Sirtuin 4	Protein Coding	1
104	SIRT5	Sirtuin 5	Protein Coding	1
105	SIRT6	Sirtuin 6	Protein Coding	1
106	SIRT7	Sirtuin 7	Protein Coding	1
107	SUMO3	Small Ubiquitin Like Modifier 3	Protein Coding	1
108	SUMO2	Small Ubiquitin Like Modifier 2	Protein Coding	1
109	SP100	SP100 Nuclear Antigen	Protein Coding	1
110	TNFRSF1A	TNF Receptor Superfamily Member 1A	Protein Coding	1
111	FAS	Fas Cell Surface Death Receptor	Protein Coding	1
112	FASLG	Fas Ligand	Protein Coding	1
113	UBA2	Ubiquitin Like Modifier Activating Enzyme 2	Protein Coding	1
114	UBE2I	Ubiquitin Conjugating Enzyme E2 I	Protein Coding	1
115	SUMO1	Small Ubiquitin Like Modifier 1	Protein Coding	1
116	EIF2S1	Eukaryotic Translation Initiation Factor 2 Subunit Alpha	Protein Coding	1
117	IFNG	Interferon Gamma	Protein Coding	1
118	IFNGR1	Interferon Gamma Receptor 1	Protein Coding	1
119	PDGFA	Platelet Derived Growth Factor Subunit A	Protein Coding	1
120	PDGFB	Platelet Derived Growth Factor Subunit B	Protein Coding	1
121	PDGFC	Platelet Derived Growth Factor C	Protein Coding	1
122	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	Protein Coding	1
123	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	1
124	PPP2CA	Protein Phosphatase 2 Catalytic Subunit Alpha	Protein Coding	1
125	PPP2CB	Protein Phosphatase 2 Catalytic Subunit Beta	Protein Coding	1
126	PPP2R1A	Protein Phosphatase 2 Scaffold Subunit Aalpha	Protein Coding	1
127	PPP2R1B	Protein Phosphatase 2 Scaffold Subunit Abeta	Protein Coding	1
128	PPP2R2A	Protein Phosphatase 2 Regulatory Subunit Balpha	Protein Coding	1
129	PPP2R2B	Protein Phosphatase 2 Regulatory Subunit Bbeta	Protein Coding	1
130	PPP2R2C	Protein Phosphatase 2 Regulatory Subunit Bgamma	Protein Coding	1
131	PPP2R3A	Protein Phosphatase 2 Regulatory Subunit B''''Alpha	Protein Coding	1
132	PTPA	Protein Phosphatase 2 Phosphatase Activator	Protein Coding	1
133	PPP2R5A	Protein Phosphatase 2 Regulatory Subunit B''Alpha	Protein Coding	1
134	PPP2R5B	Protein Phosphatase 2 Regulatory Subunit B''Beta	Protein Coding	1
135	PPP2R5C	Protein Phosphatase 2 Regulatory Subunit B''Gamma	Protein Coding	1
136	PPP2R5E	Protein Phosphatase 2 Regulatory Subunit B''Epsilon	Protein Coding	1
137	PPP2R3B	Protein Phosphatase 2 Regulatory Subunit B''''Beta~Name Same As:- HGNC:9310	Protein Coding	1
138	PRKRA	Protein Activator Of Interferon Induced Protein Kinase EIF2AK2	Protein Coding	1
139	REL	REL Proto-Oncogene, NF-KB Subunit	Protein Coding	1
140	PDGFD	Platelet Derived Growth Factor D	Protein Coding	1
141	STAT1	Signal Transducer And Activator Of Transcription 1	Protein Coding	1
142	EGF	Epidermal Growth Factor	Protein Coding	1
143	EGFR	Epidermal Growth Factor Receptor	Protein Coding	1
144	TRADD	TNFRSF1A Associated Via Death Domain	Protein Coding	1
145	ARAF	A-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
146	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
147	CCR5	C-C Motif Chemokine Receptor 5	Protein Coding	1
148	CD4	CD4 Molecule	Protein Coding	1
149	CXCR4	C-X-C Motif Chemokine Receptor 4	Protein Coding	1
150	LCK	LCK Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
151	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
152	RIPK1	Receptor Interacting Serine/Threonine Kinase 1	Protein Coding	1
153	TRAF3IP2	TRAF3 Interacting Protein 2	Protein Coding	1
154	JAK3	Janus Kinase 3	Protein Coding	1
155	BIRC2	Baculoviral IAP Repeat Containing 2	Protein Coding	1
156	BIRC3	Baculoviral IAP Repeat Containing 3	Protein Coding	1
157	MAP3K1	Mitogen-Activated Protein Kinase Kinase Kinase 1	Protein Coding	1
158	MAP3K10	Mitogen-Activated Protein Kinase Kinase Kinase 10	Protein Coding	1
159	MAP3K11	Mitogen-Activated Protein Kinase Kinase Kinase 11	Protein Coding	1
160	MAP3K12	Mitogen-Activated Protein Kinase Kinase Kinase 12	Protein Coding	1
161	MAP3K13	Mitogen-Activated Protein Kinase Kinase Kinase 13	Protein Coding	1
162	MAP3K6	Mitogen-Activated Protein Kinase Kinase Kinase 6	Protein Coding	1
163	MAP3K8	Mitogen-Activated Protein Kinase Kinase Kinase 8	Protein Coding	1
164	MAP3K9	Mitogen-Activated Protein Kinase Kinase Kinase 9	Protein Coding	1
165	TANK	TRAF Family Member Associated NFKB Activator	Protein Coding	1
166	TBK1	TANK Binding Kinase 1	Protein Coding	1
167	RB1	RB Transcriptional Corepressor 1	Protein Coding	1
168	RPS6KB1	Ribosomal Protein S6 Kinase B1	Protein Coding	1
169	SP1	Sp1 Transcription Factor	Protein Coding	1
170	CASP3	Caspase 3	Protein Coding	1
171	SIVA1	SIVA1 Apoptosis Inducing Factor	Protein Coding	1
172	CD27	CD27 Molecule	Protein Coding	1
173	CD70	CD70 Molecule	Protein Coding	1

Disorders associated with 4-1BB Pathway SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Noonan syndrome 1	Enrichment	BRAF, HRAS, KRAS, MRAS, NRAS, RAF1, RRAS, RRAS2	11.35
2	Rasopathy	Enrichment	BRAF, HRAS, KRAS, MRAS, NRAS, RAF1, RRAS2	10.90
3	Noonan syndrome and noonan-related syndrome	Enrichment	BRAF, HRAS, KRAS, NRAS, RAF1	8.83
4	Melanocytic nevus syndrome, congenital	Enrichment	BRAF, HRAS, NRAS, RAF1	7.98
5	Lung non-small cell carcinoma	Enrichment	BRAF, HRAS, KRAS, NRAS	7.31
6	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS, KRAS, NRAS	6.75
7	Cardiofaciocutaneous syndrome 1	Enrichment	KRAS, MAP2K1, MAP2K2	6.32
8	Cardiofaciocutaneous syndrome	Enrichment	KRAS, MAP2K1, MAP2K2	6.32
9	Nevus, epidermal	Enrichment	HRAS, KRAS, NRAS	5.81
10	Thyroid cancer, nonmedullary, 2	Enrichment	BRAF, HRAS, NRAS	5.81
11	Noonan syndrome 3	Enrichment	HRAS, KRAS, RAF1	5.81
12	Pilomyxoid astrocytoma	Enrichment	BRAF, KRAS, RAF1	5.81
13	Follicular thyroid carcinoma	Enrichment	BRAF, HRAS, NRAS	5.81
14	Differentiated thyroid carcinoma	Enrichment	BRAF, HRAS, KRAS, NRAS	5.48
15	Ectodermal dysplasia and immune deficiency	Enrichment	IKBKG, NFKBIA	5.33
16	Juvenile myelomonocytic leukemia	Enrichment	KRAS, NRAS, RRAS	5.02
17	Ras-associated autoimmune leukoproliferative disorder	Enrichment	KRAS, NRAS	4.89
18	Psoriatic arthritis	Enrichment	LTA, TNF	4.66
19	Langerhans cell histiocytosis	Enrichment	BRAF, NRAS	4.42
20	Large congenital melanocytic nevus	Enrichment	HRAS, NRAS	4.42
21	Nasopharyngeal carcinoma	Enrichment	NFKBIA, TP53	4.32
22	Herpes simplex virus encephalitis	Enrichment	TBK1, TRAF3	4.14
23	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	KRAS, NRAS	4.12
24	Noonan syndrome with multiple lentigines	Enrichment	BRAF, RAF1	4.12
25	Autoimmune lymphoproliferative syndrome	Enrichment	FAS, FASLG	3.83
26	Lung sarcomatoid carcinoma	Enrichment	KRAS, TP53	3.83
27	Primary hypereosinophilic syndrome	Enrichment	PDGFRA, PDGFRB	3.80
28	Breast adenocarcinoma	Enrichment	AKT1, KRAS	3.72
29	Common variable immunodeficiency	Enrichment	CD40LG, NFKB1	3.71
30	Leukemia, chronic myeloid	Enrichment	KRAS, NRAS	3.58
31	Gallbladder cancer	Enrichment	BRAF, KRAS	3.58
32	Colorectal cancer	Enrichment	AKT1, BRAF, NRAS, PIK3R1	3.57
33	Bladder cancer	Enrichment	HRAS, KRAS, TP53	3.40
34	Basal ganglia calcification, idiopathic, 1	Enrichment	PDGFB, PDGFRB	3.35
35	Capillary malformation-arteriovenous malformation 1	Enrichment	KRAS, MAP2K1	3.29
36	Lung cancer	Enrichment	FAS, FASLG, KRAS	3.27
37	Lip and oral cavity carcinoma	Enrichment	BRAF, HRAS	3.08
38	Arteriovenous malformation	Enrichment	HRAS, MAP2K1	3.06
39	Leukemia, acute myeloid	Enrichment	KRAS, NRAS, TP53	2.98
40	Myeloma, multiple	Enrichment	BRAF, KRAS, PIK3R2	2.97
41	Myopathy, x-linked, with excessive autophagy	Enrichment	HRAS, MAP2K1	2.96
42	Lung cancer susceptibility 3	Enrichment	BRAF, KRAS	2.95
43	Gastric cancer	Enrichment	IL1B, KRAS, TP53	2.89
44	Gliosarcoma	Enrichment	EGFR, NFKBIA	2.83
45	Giant cell glioblastoma	Enrichment	EGFR, NFKBIA	2.77
46	Malaria	Enrichment	IKBKG, TNF	2.75
47	Arteriovenous malformations of the brain	Enrichment	BRAF, KRAS	2.68
48	Incontinentia pigmenti	Enrichment	IKBKG	2.66
49	Autoinflammatory disease, systemic, x-linked	Enrichment	IKBKG	2.66
50	Melorheostosis, isolated	Enrichment	MAP2K1	2.66
51	Cardiofaciocutaneous syndrome 3	Enrichment	MAP2K1	2.66
52	Fetal encasement syndrome	Enrichment	CHUK	2.66
53	Immunodeficiency 15b	Enrichment	IKBKB	2.66
54	Immunodeficiency 15a	Enrichment	IKBKB	2.66
55	Lymphoproliferative syndrome 3	Enrichment	CD70	2.66
56	Ectodermal dysplasia and immunodeficiency 1	Enrichment	IKBKG	2.66
57	Melorheostosis	Enrichment	MAP2K1	2.66
58	Cardiofaciocutaneous syndrome 4	Enrichment	MAP2K2	2.66
59	Bartsocas-papas syndrome 2	Enrichment	CHUK	2.66
60	Immunodeficiency 112	Enrichment	MAP3K14	2.66
61	Cerebral cavernous malformations 5	Enrichment	MAP3K3	2.66
62	Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency	Enrichment	CHUK	2.66
63	Verrucous hemangioma	Enrichment	MAP3K3	2.66
64	Nik deficiency	Enrichment	MAP3K14	2.66
65	Proteus syndrome	Enrichment	AKT1	2.64
66	Ataxia-oculomotor apraxia 3	Enrichment	PIK3R5	2.64
67	Noonan syndrome 13	Enrichment	MAPK1	2.64
68	Short syndrome	Enrichment	PIK3R1	2.64
69	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	2.64
70	Cowden syndrome 6	Enrichment	AKT1	2.64
71	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	2.64
72	Trilateral retinoblastoma	Enrichment	RB1	2.64
73	Lung oat cell carcinoma	Enrichment	RB1	2.64
74	Immunodeficiency 109 with lymphoproliferation	Enrichment	TNFRSF9	2.59
75	Diffuse large b-cell lymphoma	Enrichment	STAT3, TP53	2.58
76	Cardiospondylocarpofacial syndrome	Enrichment	MAP3K7	2.56
77	Leprosy 4	Enrichment	LTA	2.56
78	46,xy sex reversal 6	Enrichment	MAP3K1	2.56
79	Frontometaphyseal dysplasia 2	Enrichment	MAP3K7	2.56
80	Immunodeficiency 132a	Enrichment	TRAF3	2.56
81	Immunodeficiency 132b	Enrichment	TRAF3	2.56
82	Autoinflammation with arthritis and vasculitis	Enrichment	TBK1	2.56
83	Corticobasal syndrome	Enrichment	TBK1	2.56
84	Encephalopathy, acute, infection-induced 8	Enrichment	TBK1	2.56
85	Familial behcet-like autoinflammatory syndrome	Enrichment	TNFAIP3	2.56
86	Rhabdomyosarcoma	Enrichment	HRAS, TP53	2.55
87	Immunodeficiency with hyper-igm, type 1	Enrichment	CD40LG	2.51
88	T-cell large granular lymphocyte leukemia	Enrichment	STAT3	2.51
89	Immunodeficiency with hyper-igm, type 3	Enrichment	CD40	2.51
90	Autoimmune disease, multisystem, infantile-onset, 1	Enrichment	STAT3	2.51
91	T-b+ severe combined immunodeficiency due to jak3 deficiency	Enrichment	JAK3	2.51
92	Stat3-related early-onset multisystem autoimmune disease	Enrichment	STAT3	2.51
93	Cd40 ligand deficiency	Enrichment	CD40LG	2.51
94	Chronic lymphoproliferative disorder of natural killer cells	Enrichment	STAT3	2.51
95	Hypomagnesemia 4, renal	Enrichment	EGF	2.44
96	Autoimmune lymphoproliferative syndrome, type iii	Enrichment	PRKCD	2.44
97	Spinocerebellar ataxia 14	Enrichment	PRKCG	2.44
98	Congenital heart defects and ectodermal dysplasia	Enrichment	PRKD1	2.44
99	Malignant epithelial tumor of salivary glands	Enrichment	PRKD1	2.44
100	Egf-related primary hypomagnesemia with intellectual disability	Enrichment	EGF	2.44
101	Oculoectodermal syndrome	Enrichment	KRAS	2.44
102	Pallister-killian syndrome	Enrichment	ARAF	2.44
103	Noonan syndrome 5	Enrichment	RAF1	2.44
104	Noonan syndrome 7	Enrichment	BRAF	2.44
105	Leopard syndrome 3	Enrichment	BRAF	2.44
106	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	2.44
107	Melanosis, neurocutaneous	Enrichment	NRAS	2.44
108	Noonan syndrome 6	Enrichment	NRAS	2.44
109	Whim syndrome 1	Enrichment	CXCR4	2.44
110	Noonan syndrome 11	Enrichment	MRAS	2.44
111	Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome	Enrichment	EIF2AK2	2.44
112	Okt4 epitope deficiency	Enrichment	CD4	2.44
113	Cardiofaciocutaneous syndrome 2	Enrichment	KRAS	2.44
114	Lymphangioma	Enrichment	BRAF	2.44
115	Phace association	Enrichment	BRAF	2.44
116	Leopard syndrome 2	Enrichment	RAF1	2.44
117	Type 1 diabetes mellitus 22	Enrichment	CCR5	2.44
118	Immunodeficiency 22	Enrichment	LCK	2.44
119	Dystonia 33	Enrichment	EIF2AK2	2.44
120	Immunodeficiency 79	Enrichment	CD4	2.44
121	Autoinflammation with episodic fever and lymphadenopathy	Enrichment	RIPK1	2.44
122	Trigonitis	Enrichment	RAF1	2.44
123	Congenital pulmonary airway malformation	Enrichment	KRAS	2.44
124	Syringocystadenoma papilliferum	Enrichment	BRAF	2.44
125	Ganglioglioma	Enrichment	BRAF	2.44
126	Nongerminomatous germ cell tumor	Enrichment	BRAF	2.44
127	Phace syndrome	Enrichment	BRAF	2.44
128	Phakomatosis pigmentokeratotica	Enrichment	HRAS	2.44
129	Classic hairy cell leukemia	Enrichment	BRAF	2.44
130	Neurocutaneous melanocytosis	Enrichment	NRAS	2.44
131	Behcet syndrome	Enrichment	FAS, TNFRSF1A	2.40
132	Helicobacter pylori infection	Enrichment	IFNGR1	2.39
133	Premature aging syndrome, penttinen type	Enrichment	PDGFRB	2.39
134	Hypereosinophilic syndrome, idiopathic	Enrichment	PDGFRA	2.39
135	Spinocerebellar ataxia 12	Enrichment	PPP2R2B	2.39
136	Basal ganglia calcification, idiopathic, 5	Enrichment	PDGFB	2.39
137	Myofibromatosis, infantile, 1	Enrichment	PDGFRB	2.39
138	Gist-plus syndrome	Enrichment	PDGFRA	2.39
139	Immunodeficiency 27a	Enrichment	IFNGR1	2.39
140	Immunodeficiency 69	Enrichment	IFNG	2.39
141	Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development	Enrichment	PTPA	2.39
142	Immunodeficiency 92	Enrichment	REL	2.39
143	Bone marrow failure syndrome 5	Enrichment	TP53	2.39
144	Houge-janssens syndrome 4	Enrichment	PPP2R5C	2.39
145	Papilloma of choroid plexus	Enrichment	TP53	2.39
146	Basal cell carcinoma 7	Enrichment	TP53	2.39
147	Myeloid and lymphoid neoplasms associated with pdgfra rearrangement	Enrichment	PDGFRA	2.39
148	Anaplastic thyroid carcinoma	Enrichment	TP53	2.39
149	Houge-janssens syndrome 2	Enrichment	PPP2R1A	2.39
150	Immunodeficiency 27b	Enrichment	IFNGR1	2.39
151	Immunodeficiency 31a	Enrichment	STAT1	2.39
152	Basal ganglia calcification, idiopathic, 4	Enrichment	PDGFRB	2.39
153	Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement	Enrichment	PDGFRB	2.39
154	Immunodeficiency 31b	Enrichment	STAT1	2.39
155	Ductal carcinoma in situ	Enrichment	TP53	2.39
156	Kosaki overgrowth syndrome	Enrichment	PDGFRB	2.39
157	Ocular pterygium-digital keloid dysplasia syndrome	Enrichment	PDGFRB	2.39
158	Thyroid gland undifferentiated carcinoma	Enrichment	TP53	2.39
159	Small-cell carcinoma of the ovary of hypercalcemic type	Enrichment	TP53	2.39
160	Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype	Enrichment	TP53	2.39
161	Choroid plexus cancer	Enrichment	TP53	2.39
162	Pleomorphic xanthoastrocytoma	Enrichment	TP53	2.39
163	Ppp2r1a-related neurodevelopmental disorder	Enrichment	PPP2R1A	2.39
164	Immunodeficiency 33	Enrichment	IKBKG	2.35
165	Ectodermal dysplasia and immunodeficiency 2	Enrichment	NFKBIA	2.35
166	Immunodeficiency, common variable, 12, with autoimmunity	Enrichment	NFKB1	2.35
167	Glucosephosphate dehydrogenase deficiency	Enrichment	IKBKG	2.35
168	Common variable immunodeficiency 12	Enrichment	NFKB1	2.35
169	Tafro syndrome	Enrichment	MAP2K2	2.35
170	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Enrichment	PIK3R5	2.34
171	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	2.34
172	Chromosome 13q14 deletion syndrome	Enrichment	RB1	2.34
173	Familial retinoblastoma	Enrichment	RB1	2.34
174	Severe combined immunodeficiency	Enrichment	IKBKB, JAK3	2.33
175	Periodic fever, familial, autosomal dominant	Enrichment	TNFRSF1A	2.30
176	Orofacial cleft 10	Enrichment	SUMO1	2.30
177	Chronic recurrent multifocal osteomyelitis 3	Enrichment	IL1R1	2.30
178	Multiple sclerosis 5	Enrichment	TNFRSF1A	2.30
179	Tnf receptor-associated periodic fever syndrome	Enrichment	TNFRSF1A	2.30
180	Menke-hennekam syndrome 1	Enrichment	CREBBP	2.30
181	Rubinstein-taybi syndrome due to 16p13.3 microdeletion	Enrichment	CREBBP	2.30
182	Menke-hennekam syndrome	Enrichment	CREBBP	2.30
183	Infection-induced acute-onset axonal neuropathy	Enrichment	RCC1	2.30
184	Familial acute necrotizing encephalopathy	Enrichment	RANBP2	2.30
185	Lethal brain and heart developmental defects	Enrichment	SIRT6	2.30
186	Systemic lupus erythematosus	Enrichment	TNF, TNFAIP3	2.30
187	Scoliosis, isolated 1	Enrichment	MAPK7	2.29
188	Tooth agenesis	Enrichment	RANBP2, SUMO1	2.27
189	Autoinflammatory syndrome, familial, behcet-like 1	Enrichment	TNFAIP3	2.26
190	Immunodeficiency 127	Enrichment	TNF	2.26
191	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Enrichment	TBK1	2.26
192	Non-immune hydrops fetalis	Enrichment	HRAS, KRAS	2.25
193	Ovarian cancer	Enrichment	AKT1, KRAS, RRAS2	2.24
194	Discoid lupus erythematosus	Enrichment	TRAF3IP2	2.21
195	Retinoblastoma	Enrichment	RB1	2.16
196	Osteogenic sarcoma	Enrichment	RB1	2.16
197	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3R1	2.16
198	Woolly hair, autosomal recessive 3	Enrichment	RB1	2.16
199	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3R1	2.16
200	Hypotrichosis 8	Enrichment	RB1	2.16
201	Immunodeficiency 14	Enrichment	PIK3R1	2.16
202	Squamous cell carcinoma	Enrichment	RB1	2.16
203	Bone osteosarcoma	Enrichment	RB1	2.16
204	Melanoma of soft tissue	Enrichment	CREB1	2.16
205	Pancreatic cancer	Enrichment	KRAS, TP53	2.16
206	Immunodeficiency, common variable, 2	Enrichment	CR2	2.14
207	Spinocerebellar ataxia 17	Enrichment	TBP	2.14
208	Immunodeficiency, common variable, 7	Enrichment	CR2	2.14
209	Costello syndrome	Enrichment	HRAS	2.14
210	West nile virus	Enrichment	CCR5	2.14
211	Pulmonic stenosis	Enrichment	BRAF	2.14
212	Encephalocraniocutaneous lipomatosis	Enrichment	KRAS	2.14
213	Noonan syndrome 12	Enrichment	RRAS2	2.14
214	Autoinflammatory disease, familial, behcet-like 3	Enrichment	RELA	2.14
215	Rela fusion-positive ependymoma	Enrichment	RELA	2.14
216	Immunodeficiency 57 with autoinflammation	Enrichment	RIPK1	2.14
217	Wooly hair nevus	Enrichment	HRAS	2.14
218	Myeloproliferative disorder, chronic, with eosinophilia	Enrichment	PDGFRB	2.09
219	Adrenocortical carcinoma, hereditary	Enrichment	TP53	2.09
220	Dermatofibrosarcoma protuberans	Enrichment	PDGFB	2.09
221	Cervical cancer	Enrichment	TP53	2.09
222	Lymphoma, hodgkin, classic	Enrichment	TP53	2.09
223	Dystonia 16	Enrichment	PRKRA	2.09
224	Immunodeficiency 31c	Enrichment	STAT1	2.09
225	Infantile myofibromatosis	Enrichment	PDGFRB	2.09
226	Congenital fibrosarcoma	Enrichment	TP53	2.09
227	Li-fraumeni syndrome 1	Enrichment	TP53	2.09
228	Sarcoma	Enrichment	TP53	2.09
229	Cervix carcinoma	Enrichment	TP53	2.09
230	Hodgkin's lymphoma	Enrichment	TP53	2.09
231	Houge-janssens syndrome 3	Enrichment	PPP2CA	2.09
232	Chronic eosinophilic leukemia	Enrichment	PDGFRA	2.09
233	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality	Enrichment	PDGFRA	2.09
234	Pleomorphic rhabdomyosarcoma	Enrichment	TP53	2.09
235	Mycosis fungoides	Enrichment	TNFRSF1B	2.09
236	Frontometaphyseal dysplasia	Enrichment	MAP3K7	2.09
237	Migraine without aura	Enrichment	TNF	2.09
238	Saczary syndrome	Enrichment	TNFRSF1B	2.09
239	Neurofibromatosis-noonan syndrome	Enrichment	MAP2K2	2.05
240	Lymphoproliferative syndrome 2	Enrichment	CD27	2.05
241	Congenital generalized lipodystrophy	Enrichment	FOS	2.05
242	Small cell cancer of the lung	Enrichment	RB1	2.04
243	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	PIK3R2	2.04
244	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	2.04
245	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	PIK3R2	2.04
246	Lynch syndrome 4	Enrichment	RB1	2.04
247	Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency	Enrichment	JAK3	2.03
248	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	STAT3	2.03
249	Psoriasis 13	Enrichment	TRAF3IP2	2.03
250	Breast implant-associated anaplastic large cell lymphoma	Enrichment	STAT3	2.03
251	Hyper ige syndrome	Enrichment	STAT3	2.03
252	Candidiasis, familial, 8	Enrichment	TRAF3IP2	2.03
253	Thumb deformity	Enrichment	CREBBP	2.00
254	Nephronophthisis-like nephropathy 1	Enrichment	RANGAP1	2.00
255	Acute myeloid leukemia with kat6a-crebbp fusion	Enrichment	CREBBP	2.00
256	Chromosome 19q13.11 deletion syndrome, distal	Enrichment	UBA2	2.00
257	Intermittent hydrarthrosis	Enrichment	TNFRSF1A	2.00
258	Acute necrotizing encephalopathy of childhood	Enrichment	RANBP2	2.00
259	Systemic lupus erythematosus 9	Enrichment	CR2	1.97
260	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	1.97
261	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	1.97
262	Ataxia-telangiectasia	Enrichment	BRAF	1.97
263	Hepatitis c virus	Enrichment	CCR5	1.97
264	Tethered spinal cord syndrome	Enrichment	BRAF	1.97
265	Torsion dystonia 1	Enrichment	EIF2AK2	1.97
266	Spermatocytoma	Enrichment	HRAS	1.97
267	Diffuse gastric and lobular breast cancer syndrome	Enrichment	MAP3K6	1.96
268	Cerebral malaria	Enrichment	TNF	1.96
269	Hereditary breast carcinoma	Enrichment	AKT1, KRAS	1.96
270	Anemia, congenital, nonspherocytic hemolytic, 1	Enrichment	IKBKG	1.96
271	Histiocytoid hemangioma	Enrichment	FOS	1.96
272	Tuberous sclerosis 1	Enrichment	IFNG	1.92
273	Tuberous sclerosis 2	Enrichment	IFNG	1.92
274	Atypical teratoid rhabdoid tumor	Enrichment	TP53	1.92
275	Anaplastic astrocytoma	Enrichment	TP53	1.92
276	Adenocarcinoma	Enrichment	TP53	1.92
277	Adenosine deaminase deficiency	Enrichment	JAK3	1.91
278	Lymphoma, mucosa-associated lymphoid type	Enrichment	BIRC3	1.87
279	Vascular dementia	Enrichment	TNF	1.87
280	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	Enrichment	POLR2A	1.84
281	Hereditary ataxia	Enrichment	PRKCG	1.84
282	Thyroid cancer, nonmedullary, 1	Enrichment	BRAF	1.84
283	Craniopharyngioma	Enrichment	BRAF	1.84
284	Pilocytic astrocytoma	Enrichment	KRAS	1.84
285	Newborn respiratory distress syndrome	Enrichment	BRAF	1.84
286	Epidermolytic nevus	Enrichment	HRAS	1.84
287	Aplasia cutis congenita, nonsyndromic	Enrichment	UBA2	1.82
288	Immunodeficiency 98 with autoinflammation, x-linked	Enrichment	FASLG	1.82
289	Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive	Enrichment	RANBP2	1.82
290	Renu syndrome	Enrichment	SIRT4	1.82
291	Intraocular pressure quantitative trait locus	Enrichment	CREBBP	1.82
292	Vogt-koyanagi-harada disease	Enrichment	FAS	1.82
293	Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant	Enrichment	TRAF6	1.81
294	Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative	Enrichment	JAK3	1.81
295	Overgrowth syndrome	Enrichment	PIK3R1	1.80
296	Hepatitis b	Enrichment	IFNGR1	1.79
297	Embryonal rhabdomyosarcoma	Enrichment	TP53	1.79
298	Hereditary breast ovarian cancer syndrome	Enrichment	KRAS, RIPK1	1.77
299	Lennox-gastaut syndrome	Enrichment	MAPK10	1.76
300	Chronic mucocutaneous candidiasis	Enrichment	TRAF3IP2	1.73
301	Motor neuron disease	Enrichment	TBK1	1.72
302	Coronary heart disease 5	Enrichment	IKBKG	1.70
303	Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive	Enrichment	RANBP2	1.70
304	Ectodermal dysplasia	Enrichment	RANBP2	1.70
305	Rhabdomyosarcoma 2	Enrichment	TP53	1.70
306	Lymphoma	Enrichment	TP53	1.70
307	Acute megakaryocytic leukemia	Enrichment	TP53	1.70
308	Idiopathic aplastic anemia	Enrichment	IFNG	1.70
309	Cowden syndrome	Enrichment	AKT1	1.69
310	Cowden syndrome 1	Enrichment	EGFR	1.67
311	Lung squamous cell carcinoma	Enrichment	EGFR	1.67
312	Wilms tumor 5	Enrichment	BRAF	1.67
313	Inflammatory bowel disease 25, autosomal recessive	Enrichment	RIPK1	1.67
314	Il10-related early-onset inflammatory bowel disease	Enrichment	RIPK1	1.67
315	Ciliary dyskinesia, primary, 3	Enrichment	NFKB1	1.66
316	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3R1	1.65
317	Immune deficiency disease	Enrichment	CD27	1.62
318	Combined immunodeficiency	Enrichment	CD27	1.62
319	Combined t cell and b cell immunodeficiency	Enrichment	CD27	1.62
320	Combined t and b cell immunodeficiency	Enrichment	CD27	1.62
321	Li-fraumeni syndrome	Enrichment	TP53	1.62
322	Adrenocortical carcinoma	Enrichment	TP53	1.62
323	Progressive non-fluent aphasia	Enrichment	TBK1	1.61
324	Permanent neonatal diabetes mellitus	Enrichment	STAT3	1.61
325	Aplasia cutis congenita	Enrichment	UBA2	1.61
326	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Enrichment	RANBP2	1.61
327	Specific learning disability	Enrichment	MAPK1	1.60
328	Squamous cell carcinoma, head and neck	Enrichment	EGFR	1.60
329	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Enrichment	TBK1	1.57
330	Meningioma	Enrichment	AKT1	1.57
331	Esophageal cancer	Enrichment	TP53	1.55
332	Gastrointestinal stromal tumor	Enrichment	PDGFRA	1.55
333	Essential thrombocythemia	Enrichment	TP53	1.55
334	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	TP53	1.55
335	Lymphoma, non-hodgkin, familial	Enrichment	BRAF	1.54
336	Asthma	Enrichment	TNF	1.53
337	46,xy complete gonadal dysgenesis	Enrichment	MAP3K1	1.53
338	Rubinstein-taybi syndrome 1	Enrichment	CREBBP	1.53
339	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	CREBBP	1.53
340	Inflammatory myofibroblastic tumor	Enrichment	RANBP2	1.53
341	Hypertrichosis	Enrichment	CREBBP	1.53
342	Breast cancer	Enrichment	AKT1, KRAS	1.52
343	Glioma susceptibility 1	Enrichment	TP53	1.50
344	Inflammatory bowel disease 1	Enrichment	PRKCQ	1.49
345	Adult hepatocellular carcinoma	Enrichment	EGF	1.49
346	Cardiomyopathy, familial hypertrophic, 4	Enrichment	BRAF	1.49
347	Primary hyperaldosteronism	Enrichment	BRAF	1.49
348	Ventricular septal defect	Enrichment	BRAF	1.49
349	Dilated cardiomyopathy	Enrichment	BRAF, RAF1	1.47
350	Mitochondrial dna depletion syndrome 4a	Enrichment	RANBP2	1.46
351	Alzheimer's disease	Enrichment	TNF	1.46
352	Stroke, ischemic	Enrichment	PRKCH	1.45
353	Melanoma	Enrichment	BRAF	1.45
354	46,xy partial gonadal dysgenesis	Enrichment	MAP3K1	1.43
355	Mitochondrial dna depletion syndrome 4b	Enrichment	RANBP2	1.40
356	Acute promyelocytic leukemia	Enrichment	STAT3	1.40
357	Nk-cell enteropathy	Enrichment	JAK3	1.40
358	Leukemia, chronic lymphocytic	Enrichment	TP53	1.40
359	Aplastic anemia	Enrichment	IFNG	1.40
360	Familial colorectal cancer	Enrichment	TP53	1.40
361	Heart, malformation of	Enrichment	MAPK1	1.39
362	Meningioma, familial	Enrichment	PDGFB	1.36
363	Myelodysplastic syndrome	Enrichment	TP53	1.36
364	Charge syndrome	Enrichment	TNFRSF1A	1.35
365	Chromosome 1p36 deletion syndrome	Enrichment	PRKCZ	1.34
366	Protein-deficiency anemia	Enrichment	NRAS	1.34
367	Wilms tumor 1	Enrichment	BRAF	1.28
368	Lynch syndrome	Enrichment	KRAS	1.28
369	Cleft lip/palate	Enrichment	PDGFRA	1.26
370	Myocardial infarction	Enrichment	LTA	1.23
371	Multisystem inflammatory syndrome in children	Enrichment	TRAF3	1.23
372	Hydrocephalus	Enrichment	PDGFRB	1.23
373	Melanoma, cutaneous malignant 1	Enrichment	BRAF	1.22
374	Dandy-walker syndrome	Enrichment	BRAF	1.22
375	Human immunodeficiency virus type 1	Enrichment	CCR5	1.20
376	Esophageal atresia/tracheoesophageal fistula	Enrichment	POLR2B	1.18
377	Parkinson's disease	Enrichment	TBP	1.18
378	Multiple sclerosis	Enrichment	TNFRSF1A	1.17
379	Heart disease	Enrichment	CREBBP	1.17
380	Corpus callosum, agenesis of	Enrichment	CREBBP	1.14
381	Isolated corpus callosum agenesis	Enrichment	CREBBP	1.14
382	Rare genetic intellectual disability	Enrichment	CREBBP	1.14
383	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	CREBBP	1.14
384	Hepatoblastoma	Enrichment	TP53	1.09
385	Parkinson disease, late-onset	Enrichment	TBP	1.08
386	Cardiomyopathy, familial hypertrophic, 1	Enrichment	RAF1	1.08
387	Hepatocellular carcinoma	Enrichment	TP53	1.07
388	Severe covid-19	Enrichment	JAK3	1.07
389	Diamond-blackfan anemia 1	Enrichment	TP53	1.05
390	Hydrops fetalis, nonimmune	Enrichment	HRAS	1.05
391	Inherited cancer-predisposing syndrome	Enrichment	PDGFRA, TP53	1.00
392	Prostate cancer	Enrichment	TP53	0.95
393	Familial hypertrophic cardiomyopathy	Enrichment	RAF1	0.95
394	Autoinflammatory disease	Enrichment	TNFRSF1A	0.94
395	Scoliosis	Enrichment	CREBBP	0.94
396	Left ventricular noncompaction	Enrichment	RAF1	0.92
397	Diamond-blackfan anemia	Enrichment	TP53	0.87
398	Cerebral palsy	Enrichment	PDGFRB	0.83
399	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	TBK1	0.83
400	Nephronophthisis	Enrichment	PIAS1	0.82
401	Familial isolated dilated cardiomyopathy	Enrichment	RAF1	0.76
402	Autism spectrum disorder	Enrichment	MAP2K1	0.67
403	Microcephaly	Enrichment	MAPK1	0.61
404	Primary ovarian insufficiency	Enrichment	SIRT6	0.59
405	Autism	Enrichment	CREBBP	0.52
406	Complex neurodevelopmental disorder	Enrichment	PPP2CA	0.40
407	Congenital nervous system abnormality	Enrichment	CREBBP	0.38
408	Nervous system disease	Enrichment	CREBBP	0.38

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

4-1BB Pathway

Pathway Network for 4-1BB Pathway

Pathway network for the 4-1BB Pathway SuperPath

Member Pathways for 4-1BB Pathway

Pathways in the 4-1BB Pathway SuperPath

Gene overlap in member pathways for 4-1BB Pathway SuperPath

Associated Genes for 4-1BB Pathway

Associated Disorders for 4-1BB Pathway

Disorders associated with 4-1BB Pathway SuperPath

STRING Interaction Network for 4-1BB Pathway

Sources for 4-1BB Pathway