NF-kappaB Pathway

Pathway network for the NF-kappaB Pathway SuperPath

Sources:

Tocris

Pathways in the NF-kappaB Pathway SuperPath

#	Name	Source	Genes
1	NF-kappaB Pathway	Tocris	ACVR1 ACVR1B AKT1 AKT2 AKT3 BMPR1A BMPR1B CHUK CSNK2A1 CSNK2A2 CSNK2B EGFR ERBB2 ERBB3 ERBB4 FGFR1 FGFR2 FGFR3 FGFR4 FLT1 FLT4 GSK3A GSK3B HRAS IGF1R IGF2R IKBKB IKBKG INSR ITGA11 ITGA4 ITGAV ITGB1 KDR KRAS MAPK11 MAPK12 MAPK13 MAPK14 NFKB1 NFKB2 NFKBIA NGFR NRAS NTRK1 NTRK2 NTRK3 PIK3C2A PIK3C2B PIK3C2G PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 PRKCA PRKCB PRKCD PRKCE PRKCG PRKCH PRKCI PRKCQ PRKCZ RELA RPS6KA1 RPS6KA2 RPS6KA3 RPS6KA6 TGFBR1 TGFBR2 TGFBR3 (see all 77) (see less)
2	Apoptosis Pathway	Tocris	ACVR1 ACVR1B AKT1 AKT2 AKT3 ATM ATR BCL2 BCL2L1 BMPR1A BMPR1B CAPN1 CAPN10 CAPN11 CAPN12 CAPN13 CAPN14 CAPN2 CAPN3 CAPN5 CAPN6 CAPN7 CAPN8 CAPN9 CASP10 CASP12 CASP3 CASP6 CASP7 CASP8 CASP9 CHEK1 CHEK2 CHUK EGFR ERBB2 ERBB3 ERBB4 FGFR1 FGFR2 FGFR3 FGFR4 FLT1 FLT4 HRAS IGF1R IGF2R IKBKB IKBKG INSR KDR KRAS MAP2K1 MAP2K2 NFKB1 NFKB2 NGFR NOS3 NRAS NTRK1 NTRK2 NTRK3 PDGFRA PDGFRB PIK3C2A PIK3C2B PIK3C2G PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 RPS6KA1 RPS6KA2 RPS6KA3 RPS6KA6 TGFBR1 TGFBR2 TGFBR3 TP53 YWHAB YWHAE YWHAG YWHAH YWHAQ YWHAZ (see all 91) (see less)
3	Akt Pathway	Tocris	ACVR1 ACVR1B AKT1 AKT2 AKT3 BAX BCL2L1 BMPR1A BMPR1B CASP9 CHUK CTNNB1 EGFR ERBB2 ERBB3 ERBB4 FGFR1 FGFR2 FGFR3 FGFR4 FLT1 FLT4 GABRA1 GABRA2 GABRA3 GABRA4 GABRA5 GABRA6 GABRB1 GABRB2 GABRB3 GABRD GABRE GABRG1 GABRG2 GABRG3 GABRQ GSK3A GSK3B IGF1R IGF2R IKBKB IKBKG IL13 IL1A IL1B IL1R1 IL1R2 IL2 IL2RA IL5 IL5RA INSR JUN KDR MAPK10 MAPK8 MAPK9 MDM2 MET MTOR NFKB1 NFKB2 NGFR NOS3 NTRK1 NTRK2 NTRK3 PDGFRA PDGFRB PDPK1 PIK3C2A PIK3C2B PIK3C2G PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 PPP2CA PPP2CB PTK2 TGFBR1 TGFBR2 TGFBR3 TP53 (see all 91) (see less)

Gene overlap in member pathways for NF-kappaB Pathway SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	FGFR1	Fibroblast Growth Factor Receptor 1	Protein Coding	3
2	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	3
3	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	3
4	FGFR4	Fibroblast Growth Factor Receptor 4	Protein Coding	3
5	EGFR	Epidermal Growth Factor Receptor	Protein Coding	3
6	ERBB2	Erb-B2 Receptor Tyrosine Kinase 2	Protein Coding	3
7	ERBB3	Erb-B2 Receptor Tyrosine Kinase 3	Protein Coding	3
8	ERBB4	Erb-B2 Receptor Tyrosine Kinase 4	Protein Coding	3
9	IGF1R	Insulin Like Growth Factor 1 Receptor	Protein Coding	3
10	IGF2R	Insulin Like Growth Factor 2 Receptor	Protein Coding	3
11	INSR	Insulin Receptor	Protein Coding	3
12	TGFBR1	Transforming Growth Factor Beta Receptor 1	Protein Coding	3
13	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	3
14	TGFBR3	Transforming Growth Factor Beta Receptor 3	Protein Coding	3
15	NGFR	Nerve Growth Factor Receptor	Protein Coding	3
16	NTRK1	Neurotrophic Receptor Tyrosine Kinase 1	Protein Coding	3
17	NTRK2	Neurotrophic Receptor Tyrosine Kinase 2	Protein Coding	3
18	NTRK3	Neurotrophic Receptor Tyrosine Kinase 3	Protein Coding	3
19	FLT1	Fms Related Receptor Tyrosine Kinase 1	Protein Coding	3
20	FLT4	Fms Related Receptor Tyrosine Kinase 4	Protein Coding	3
21	KDR	Kinase Insert Domain Receptor	Protein Coding	3
22	ACVR1	Activin A Receptor Type 1	Protein Coding	3
23	ACVR1B	Activin A Receptor Type 1B	Protein Coding	3
24	BMPR1A	Bone Morphogenetic Protein Receptor Type 1A	Protein Coding	3
25	BMPR1B	Bone Morphogenetic Protein Receptor Type 1B	Protein Coding	3
26	PIK3C2A	Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Alpha	Protein Coding	3
27	PIK3C2B	Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Beta	Protein Coding	3
28	PIK3C2G	Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Gamma	Protein Coding	3
29	PIK3C3	Phosphatidylinositol 3-Kinase Catalytic Subunit Type 3	Protein Coding	3
30	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	3
31	PIK3CB	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta	Protein Coding	3
32	PIK3CD	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta	Protein Coding	3
33	PIK3CG	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Gamma	Protein Coding	3
34	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	3
35	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	3
36	PIK3R3	Phosphoinositide-3-Kinase Regulatory Subunit 3	Protein Coding	3
37	PIK3R4	Phosphoinositide-3-Kinase Regulatory Subunit 4	Protein Coding	3
38	PIK3R5	Phosphoinositide-3-Kinase Regulatory Subunit 5	Protein Coding	3
39	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	3
40	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	3
41	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	3
42	IKBKB	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta	Protein Coding	3
43	IKBKG	Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma	Protein Coding	3
44	CHUK	Component Of Inhibitor Of Nuclear Factor Kappa B Kinase Complex	Protein Coding	3
45	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	3
46	NFKB2	Nuclear Factor Kappa B Subunit 2	Protein Coding	3
47	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	2
48	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	2
49	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	2
50	RPS6KA1	Ribosomal Protein S6 Kinase A1	Protein Coding	2
51	RPS6KA3	Ribosomal Protein S6 Kinase A3	Protein Coding	2
52	RPS6KA2	Ribosomal Protein S6 Kinase A2	Protein Coding	2
53	RPS6KA6	Ribosomal Protein S6 Kinase A6	Protein Coding	2
54	GSK3A	Glycogen Synthase Kinase 3 Alpha	Protein Coding	2
55	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	2
56	NOS3	Nitric Oxide Synthase 3	Protein Coding	2
57	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	Protein Coding	2
58	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	2
59	BCL2L1	BCL2 Like 1	Protein Coding	2
60	CASP9	Caspase 9	Protein Coding	2
61	TP53	Tumor Protein P53	Protein Coding	2
62	ITGA11	Integrin Subunit Alpha 11	Protein Coding	1
63	ITGA4	Integrin Subunit Alpha 4	Protein Coding	1
64	ITGAV	Integrin Subunit Alpha V	Protein Coding	1
65	ITGB1	Integrin Subunit Beta 1	Protein Coding	1
66	PRKCA	Protein Kinase C Alpha	Protein Coding	1
67	PRKCB	Protein Kinase C Beta	Protein Coding	1
68	PRKCD	Protein Kinase C Delta	Protein Coding	1
69	PRKCE	Protein Kinase C Epsilon	Protein Coding	1
70	PRKCG	Protein Kinase C Gamma	Protein Coding	1
71	PRKCH	Protein Kinase C Eta	Protein Coding	1
72	PRKCI	Protein Kinase C Iota	Protein Coding	1
73	PRKCQ	Protein Kinase C Theta	Protein Coding	1
74	PRKCZ	Protein Kinase C Zeta	Protein Coding	1
75	MAPK14	Mitogen-Activated Protein Kinase 14	Protein Coding	1
76	MAPK11	Mitogen-Activated Protein Kinase 11	Protein Coding	1
77	MAPK13	Mitogen-Activated Protein Kinase 13	Protein Coding	1
78	MAPK12	Mitogen-Activated Protein Kinase 12	Protein Coding	1
79	CSNK2A1	Casein Kinase 2 Alpha 1	Protein Coding	1
80	CSNK2A2	Casein Kinase 2 Alpha 2	Protein Coding	1
81	CSNK2B	Casein Kinase 2 Beta	Protein Coding	1
82	RELA	RELA Proto-Oncogene, NF-KB Subunit	Protein Coding	1
83	NFKBIA	NFKB Inhibitor Alpha	Protein Coding	1
84	BCL2	BCL2 Apoptosis Regulator	Protein Coding	1
85	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	1
86	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	1
87	CAPN1	Calpain 1	Protein Coding	1
88	CAPN10	Calpain 10	Protein Coding	1
89	CAPN11	Calpain 11	Protein Coding	1
90	CAPN12	Calpain 12	Protein Coding	1
91	CAPN13	Calpain 13	Protein Coding	1
92	CAPN14	Calpain 14	Protein Coding	1
93	CAPN2	Calpain 2	Protein Coding	1
94	CAPN3	Calpain 3	Protein Coding	1
95	CAPN5	Calpain 5	Protein Coding	1
96	CAPN6	Calpain 6	Protein Coding	1
97	CAPN7	Calpain 7	Protein Coding	1
98	CAPN8	Calpain 8	Protein Coding	1
99	CAPN9	Calpain 9	Protein Coding	1
100	CASP12	Caspase 12 (Gene/Pseudogene)	Protein Coding	1
101	CASP3	Caspase 3	Protein Coding	1
102	CASP6	Caspase 6	Protein Coding	1
103	CASP7	Caspase 7	Protein Coding	1
104	CASP8	Caspase 8	Protein Coding	1
105	CASP10	Caspase 10	Protein Coding	1
106	YWHAB	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Beta	Protein Coding	1
107	YWHAZ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Zeta	Protein Coding	1
108	YWHAE	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Epsilon	Protein Coding	1
109	YWHAG	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Gamma	Protein Coding	1
110	YWHAH	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Eta	Protein Coding	1
111	YWHAQ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Theta	Protein Coding	1
112	CHEK1	Checkpoint Kinase 1	Protein Coding	1
113	CHEK2	Checkpoint Kinase 2	Protein Coding	1
114	ATR	ATR Checkpoint Kinase	Protein Coding	1
115	ATM	ATM Serine/Threonine Kinase	Protein Coding	1
116	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	1
117	IL13	Interleukin 13	Protein Coding	1
118	IL1A	Interleukin 1 Alpha	Protein Coding	1
119	IL1B	Interleukin 1 Beta	Protein Coding	1
120	IL1R1	Interleukin 1 Receptor Type 1	Protein Coding	1
121	IL1R2	Interleukin 1 Receptor Type 2	Protein Coding	1
122	IL2	Interleukin 2	Protein Coding	1
123	IL2RA	Interleukin 2 Receptor Subunit Alpha	Protein Coding	1
124	IL5	Interleukin 5	Protein Coding	1
125	IL5RA	Interleukin 5 Receptor Subunit Alpha	Protein Coding	1
126	MAPK8	Mitogen-Activated Protein Kinase 8	Protein Coding	1
127	MAPK9	Mitogen-Activated Protein Kinase 9	Protein Coding	1
128	MAPK10	Mitogen-Activated Protein Kinase 10	Protein Coding	1
129	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
130	PPP2CA	Protein Phosphatase 2 Catalytic Subunit Alpha	Protein Coding	1
131	PPP2CB	Protein Phosphatase 2 Catalytic Subunit Beta	Protein Coding	1
132	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	1
133	BAX	BCL2 Associated X, Apoptosis Regulator	Protein Coding	1
134	MDM2	MDM2 Proto-Oncogene	Protein Coding	1
135	CTNNB1	Catenin Beta 1	Protein Coding	1
136	GABRA1	Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha1	Protein Coding	1
137	GABRA2	Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha2	Protein Coding	1
138	GABRA3	Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha3	Protein Coding	1
139	GABRA4	Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha4	Protein Coding	1
140	GABRA5	Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha5	Protein Coding	1
141	GABRA6	Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha6	Protein Coding	1
142	GABRB1	Gamma-Aminobutyric Acid Type A Receptor Subunit Beta1	Protein Coding	1
143	GABRB2	Gamma-Aminobutyric Acid Type A Receptor Subunit Beta2	Protein Coding	1
144	GABRB3	Gamma-Aminobutyric Acid Type A Receptor Subunit Beta3	Protein Coding	1
145	GABRG1	Gamma-Aminobutyric Acid Type A Receptor Subunit Gamma1	Protein Coding	1
146	GABRG2	Gamma-Aminobutyric Acid Type A Receptor Subunit Gamma2	Protein Coding	1
147	GABRG3	Gamma-Aminobutyric Acid Type A Receptor Subunit Gamma3	Protein Coding	1
148	GABRD	Gamma-Aminobutyric Acid Type A Receptor Subunit Delta	Protein Coding	1
149	GABRE	Gamma-Aminobutyric Acid Type A Receptor Subunit Epsilon	Protein Coding	1
150	GABRQ	Gamma-Aminobutyric Acid Type A Receptor Subunit Theta	Protein Coding	1
151	MET	MET Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	1
152	PTK2	Protein Tyrosine Kinase 2	Protein Coding	1

Disorders associated with NF-kappaB Pathway SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Bladder cancer	Enrichment	ATM, EGFR, ERBB2, ERBB3, FGFR3, HRAS, KRAS, PIK3CA, TP53	16.00
2	Lung non-small cell carcinoma	Enrichment	EGFR, ERBB2, HRAS, KRAS, MAP2K1, NRAS, PIK3CA	16.00
3	Ovarian cancer	Enrichment	AKT1, ATM, BMPR1A, CHEK2, EGFR, ERBB2, KRAS, NTRK1, PDGFRA, PIK3CA, TP53	10.21
4	Nevus, epidermal	Enrichment	FGFR3, HRAS, KRAS, NRAS, PIK3CA	9.86
5	Colorectal cancer	Enrichment	AKT1, ATM, CHEK2, ERBB2, FGFR2, FGFR3, NRAS, PIK3CA, PIK3R1, TP53	9.52
6	Gastric cancer	Enrichment	ATM, CASP10, CHEK2, ERBB2, FGFR2, KRAS, PIK3CA, TP53	9.42
7	Lung squamous cell carcinoma	Enrichment	EGFR, FGFR3, KRAS, PIK3CA	7.84
8	Breast adenocarcinoma	Enrichment	AKT1, KRAS, PIK3CA, TP53	7.55
9	Noonan syndrome and noonan-related syndrome	Enrichment	HRAS, KRAS, MAP2K1, MAP2K2, NRAS	7.46
10	Gliosarcoma	Enrichment	ATM, EGFR, FGFR1, FGFR3, TP53	7.30
11	Lung cancer	Enrichment	CASP8, CHEK2, EGFR, ERBB2, KRAS, PIK3CA	7.22
12	Giant cell glioblastoma	Enrichment	ATM, EGFR, FGFR1, FGFR3, TP53	7.15
13	Hepatocellular carcinoma	Enrichment	CTNNB1, IGF2R, MET, PIK3CA, TP53	6.53
14	Noonan syndrome 1	Enrichment	HRAS, KRAS, MAP2K1, MAP2K2, NRAS	6.43
15	Hereditary breast carcinoma	Enrichment	AKT1, ATM, CHEK2, KRAS, PIK3CA, TP53	6.35
16	Differentiated thyroid carcinoma	Enrichment	HRAS, KRAS, NRAS, NTRK1, NTRK3	6.26
17	Pancreatic cancer	Enrichment	ACVR1B, ATM, CHEK2, KRAS, TP53	6.24
18	Breast cancer	Enrichment	AKT1, ATM, CASP8, CHEK2, KRAS, PIK3CA, TP53	6.18
19	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS, KRAS, NRAS	6.15
20	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3, PIK3CA, PIK3R2	6.15
21	Rasopathy	Enrichment	HRAS, KRAS, MAP2K1, MAP2K2, NRAS	6.15
22	Lip and oral cavity carcinoma	Enrichment	EGFR, HRAS, PIK3CA, TP53	6.05
23	Cardiofaciocutaneous syndrome 1	Enrichment	KRAS, MAP2K1, MAP2K2	5.93
24	Cardiofaciocutaneous syndrome	Enrichment	KRAS, MAP2K1, MAP2K2	5.93
25	Nk-cell enteropathy	Enrichment	CHEK2, ERBB4, IGF1R, PIK3CB	5.89
26	Lung cancer susceptibility 3	Enrichment	EGFR, ERBB2, KRAS, TP53	5.74
27	Lynch syndrome	Enrichment	CHEK2, KRAS, PIK3CA, TGFBR2	5.61
28	Primary hypereosinophilic syndrome	Enrichment	FGFR1, PDGFRA, PDGFRB	5.54
29	Hemimegalencephaly	Enrichment	AKT3, MTOR, PIK3CA	5.54
30	Childhood absence epilepsy	Enrichment	GABRA1, GABRB3, GABRG2	5.24
31	Pilomyxoid astrocytoma	Enrichment	FGFR1, KRAS, NTRK2	5.22
32	Capillary malformation-arteriovenous malformation 1	Enrichment	KRAS, MAP2K1, PIK3CA	5.00
33	Gallbladder cancer	Enrichment	KRAS, PIK3CA, TP53	5.00
34	Endometrial cancer	Enrichment	ATM, CHEK2, FGFR2, PIK3CA	4.98
35	Lennox-gastaut syndrome	Enrichment	GABRB3, GABRG2, MAPK10	4.80
36	Arteriovenous malformation	Enrichment	HRAS, MAP2K1, PIK3CA	4.62
37	Adult hepatocellular carcinoma	Enrichment	CASP8, PIK3CA, TP53	4.62
38	Loeys-dietz syndrome 2	Enrichment	TGFBR1, TGFBR2	4.50
39	Keratosis, seborrheic	Enrichment	FGFR3, PIK3CA	4.50
40	Pfeiffer syndrome	Enrichment	FGFR1, FGFR2	4.50
41	Jackson-weiss syndrome	Enrichment	FGFR1, FGFR2	4.50
42	Encephalocraniocutaneous lipomatosis	Enrichment	FGFR1, KRAS	4.50
43	Ras-associated autoimmune leukoproliferative disorder	Enrichment	KRAS, NRAS	4.50
44	Rosette-forming glioneuronal tumor	Enrichment	FGFR1, PIK3CA	4.50
45	Ectodermal dysplasia and immune deficiency	Enrichment	IKBKG, NFKBIA	4.50
46	Myopathy, x-linked, with excessive autophagy	Enrichment	HRAS, MAP2K1, PIK3CA	4.47
47	Myeloma, multiple	Enrichment	ATM, FGFR3, KRAS, PIK3R2, TP53	4.45
48	Undetermined early-onset epileptic encephalopathy	Enrichment	GABRA2, GABRA5, GABRB2, GABRG2, NTRK2	4.45
49	Prostate cancer	Enrichment	ATM, CHEK2, PIK3CA, TP53	4.40
50	Cervical cancer	Enrichment	FGFR3, TP53	4.35
51	Li-fraumeni syndrome 1	Enrichment	CHEK2, TP53	4.35
52	Sarcoma	Enrichment	CHEK2, TP53	4.35
53	Cervix carcinoma	Enrichment	FGFR3, TP53	4.35
54	Childhood hepatocellular carcinoma	Enrichment	CTNNB1, MET	4.35
55	Primary ovarian insufficiency	Enrichment	CHEK2, IGF2R, KDR, NOS3, NTRK1	4.34
56	Familial colorectal cancer type x	Enrichment	ATM, BMPR1A, CHEK2	4.33
57	Crouzon syndrome	Enrichment	FGFR2, FGFR3	4.02
58	Lacrimoauriculodentodigital syndrome 1	Enrichment	FGFR2, FGFR3	4.02
59	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3CA, PIK3R1	4.02
60	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3CD, PIK3R1	4.02
61	Large congenital melanocytic nevus	Enrichment	HRAS, NRAS	4.02
62	Loeys-dietz syndrome 1	Enrichment	TGFBR1, TGFBR2	4.02
63	Immunodeficiency 14	Enrichment	PIK3CD, PIK3R1	4.02
64	Spermatocytoma	Enrichment	FGFR3, HRAS	4.02
65	Langerhans cell histiocytosis	Enrichment	MAP2K1, NRAS	3.88
66	Osteogenic sarcoma	Enrichment	CHEK2, TP53	3.88
67	Adenocarcinoma	Enrichment	ATM, TP53	3.88
68	Bone osteosarcoma	Enrichment	CHEK2, TP53	3.88
69	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3, PIK3R2	3.72
70	Saethre-chotzen syndrome	Enrichment	FGFR2, FGFR3	3.72
71	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	KRAS, NRAS	3.72
72	Glioma	Enrichment	FGFR2, NTRK3	3.72
73	Inherited cancer-predisposing syndrome	Enrichment	ATM, BMPR1A, CHEK2, EGFR, PDGFRA, TP53	3.59
74	Lung sarcomatoid carcinoma	Enrichment	KRAS, TP53	3.58
75	Hemifacial hyperplasia	Enrichment	FGFR2, FGFR3	3.50
76	Hepatoblastoma	Enrichment	CTNNB1, FGFR3, TP53	3.45
77	Pre-eclampsia	Enrichment	FLT1, NOS3	3.36
78	Cowden syndrome 1	Enrichment	EGFR, PIK3CA	3.33
79	Hemangioma, capillary infantile	Enrichment	FLT4, KDR	3.33
80	46,xy disorder of sex development	Enrichment	FGFR3, INSR	3.33
81	Hereditary breast ovarian cancer syndrome	Enrichment	ATM, CHEK2, KRAS, TP53	3.30
82	Thyroid cancer, nonmedullary, 2	Enrichment	HRAS, NRAS	3.18
83	Leukemia, chronic myeloid	Enrichment	KRAS, NRAS	3.18
84	Noonan syndrome 3	Enrichment	HRAS, KRAS	3.18
85	Common variable immunodeficiency	Enrichment	NFKB1, NFKB2	3.18
86	Follicular thyroid carcinoma	Enrichment	HRAS, NRAS	3.18
87	Li-fraumeni syndrome	Enrichment	CHEK2, TP53	3.18
88	Adrenocortical carcinoma	Enrichment	CTNNB1, TP53	3.18
89	Non-immune hydrops fetalis	Enrichment	FLT4, HRAS, KRAS	3.15
90	Melanocytic nevus syndrome, congenital	Enrichment	HRAS, NRAS	3.06
91	Esophageal cancer	Enrichment	TGFBR2, TP53	3.04
92	Squamous cell carcinoma, head and neck	Enrichment	EGFR, TP53	3.04
93	Renal cell carcinoma, papillary, 1	Enrichment	MET, MTOR	3.04
94	Overgrowth syndrome	Enrichment	MTOR, PIK3R1	3.04
95	Loeys-dietz syndrome	Enrichment	TGFBR1, TGFBR2	2.95
96	Cowden syndrome	Enrichment	AKT1, PIK3CA	2.95
97	Glioma susceptibility 1	Enrichment	ERBB2, TP53	2.92
98	Lymphoma, non-hodgkin, familial	Enrichment	CASP10, TP53	2.92
99	Marfan syndrome	Enrichment	TGFBR1, TGFBR2	2.86
100	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3CD, PIK3R1	2.86
101	Colonic benign neoplasm	Enrichment	ATM, CHEK2	2.81
102	Lynch syndrome 1	Enrichment	ATM, CHEK2	2.71
103	Leukemia, chronic lymphocytic	Enrichment	ATM, TP53	2.71
104	Dravet syndrome	Enrichment	GABRA1, GABRG2	2.71
105	Juvenile myelomonocytic leukemia	Enrichment	KRAS, NRAS	2.69
106	Meningioma	Enrichment	AKT1, PIK3CA	2.69
107	Uterine corpus cancer	Enrichment	ATM, CHEK2	2.63
108	Specific learning disability	Enrichment	RPS6KA3, YWHAG	2.63
109	Epilepsy, myoclonic juvenile	Enrichment	GABRA1, GABRD	2.63
110	Epilepsy, idiopathic generalized	Enrichment	GABRA1, GABRD	2.63
111	Leukemia, acute myeloid	Enrichment	KRAS, NRAS, TP53	2.62
112	Hypertelorism	Enrichment	FGFR2, PIK3CA, RPS6KA3	2.50
113	Breast-ovarian cancer, familial 1	Enrichment	ATM, CHEK2	2.48
114	Generalized epilepsy with febrile seizures plus	Enrichment	GABRD, GABRG2	2.42
115	Hydrocephalus	Enrichment	FGFR2, PDGFRB	2.36
116	Renal cell carcinoma, nonpapillary	Enrichment	MET, MTOR	2.36
117	Rhabdomyosarcoma	Enrichment	HRAS, TP53	2.30
118	Arteriovenous malformations of the brain	Enrichment	EGFR, KRAS	2.29
119	Craniosynostosis	Enrichment	FGFR2, FGFR3	2.25
120	Erythroleukemia, familial	Enrichment	ERBB3	2.25
121	Hypochondroplasia	Enrichment	FGFR3	2.25
122	Macrodactyly	Enrichment	PIK3CA	2.25
123	Proteus syndrome	Enrichment	AKT1	2.25
124	Beare-stevenson cutis gyrata syndrome	Enrichment	FGFR2	2.25
125	Paget disease, extramammary	Enrichment	ERBB2	2.25
126	Osteoglophonic dysplasia	Enrichment	FGFR1	2.25
127	Thanatophoric dysplasia, type i	Enrichment	FGFR3	2.25
128	Trigonocephaly 1	Enrichment	FGFR1	2.25
129	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	2.25
130	Donohue syndrome	Enrichment	INSR	2.25
131	Coffin-lowry syndrome	Enrichment	RPS6KA3	2.25
132	Oculoectodermal syndrome	Enrichment	KRAS	2.25
133	Muenke syndrome	Enrichment	FGFR3	2.25
134	Incontinentia pigmenti	Enrichment	IKBKG	2.25
135	Hyperinsulinemic hypoglycemia, familial, 5	Enrichment	INSR	2.25
136	Autoinflammatory disease, systemic, x-linked	Enrichment	IKBKG	2.25
137	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	Enrichment	INSR	2.25
138	Diabetes mellitus, insulin-resistant, with acanthosis nigricans	Enrichment	INSR	2.25
139	Scaphocephaly, maxillary retrusion, and impaired intellectual development	Enrichment	FGFR2	2.25
140	Polyposis syndrome, hereditary mixed, 2	Enrichment	BMPR1A	2.25
141	Acromesomelic dysplasia 3	Enrichment	BMPR1B	2.25
142	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	2.25
143	Apert syndrome	Enrichment	FGFR2	2.25
144	Multiple self-healing squamous epithelioma	Enrichment	TGFBR1	2.25
145	Cowden syndrome 5	Enrichment	PIK3CA	2.25
146	Melanosis, neurocutaneous	Enrichment	NRAS	2.25
147	Thanatophoric dysplasia, type ii	Enrichment	FGFR3	2.25
148	Lethal congenital contracture syndrome 2	Enrichment	ERBB3	2.25
149	Noonan syndrome 6	Enrichment	NRAS	2.25
150	Fetal encasement syndrome	Enrichment	CHUK	2.25
151	Brachydactyly, type a1, d	Enrichment	BMPR1B	2.25
152	Camptodactyly, tall stature, and hearing loss syndrome	Enrichment	FGFR3	2.25
153	Ataxia-oculomotor apraxia 3	Enrichment	PIK3R5	2.25
154	Autoimmune lymphoproliferative syndrome, type iii	Enrichment	PRKCD	2.25
155	Bent bone dysplasia syndrome 1	Enrichment	FGFR2	2.25
156	Cerebral cavernous malformations 4	Enrichment	PIK3CA	2.25
157	Visceral neuropathy, familial, 2, autosomal recessive	Enrichment	ERBB2	2.25
158	Immunodeficiency 15b	Enrichment	IKBKB	2.25
159	Developmental and epileptic encephalopathy 58	Enrichment	NTRK2	2.25
160	Immunodeficiency 15a	Enrichment	IKBKB	2.25
161	Short syndrome	Enrichment	PIK3R1	2.25
162	Ectodermal dysplasia and immunodeficiency 1	Enrichment	IKBKG	2.25
163	Oculoskeletodental syndrome	Enrichment	PIK3C2A	2.25
164	Intellectual developmental disorder, x-linked 19	Enrichment	RPS6KA3	2.25
165	Cardiofaciocutaneous syndrome 2	Enrichment	KRAS	2.25
166	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	2.25
167	Crouzon syndrome with acanthosis nigricans	Enrichment	FGFR3	2.25
168	Hemifacial myohyperplasia	Enrichment	PIK3CA	2.25
169	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	Enrichment	PIK3CA	2.25
170	Spinocerebellar ataxia 14	Enrichment	PRKCG	2.25
171	Colorectal cancer, hereditary nonpolyposis, type 6	Enrichment	TGFBR2	2.25
172	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	2.25
173	Cowden syndrome 6	Enrichment	AKT1	2.25
174	Amyotrophic lateral sclerosis 19	Enrichment	ERBB4	2.25
175	Immunodeficiency 14b, autosomal recessive	Enrichment	PIK3CD	2.25
176	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	2.25
177	Immunodeficiency 97 with autoinflammation	Enrichment	PIK3CG	2.25
178	Obesity, hyperphagia, and developmental delay	Enrichment	NTRK2	2.25
179	Achondroplasia, severe, with developmental delay and acanthosis nigricans	Enrichment	FGFR3	2.25
180	Hartsfield syndrome	Enrichment	FGFR1	2.25
181	Congenital heart defects, multiple types, 7	Enrichment	FLT4	2.25
182	Okur-chung neurodevelopmental syndrome	Enrichment	CSNK2A1	2.25
183	Deficiency in anterior pituitary function - variable immunodeficiency syndrome	Enrichment	NFKB2	2.25
184	Bartsocas-papas syndrome 2	Enrichment	CHUK	2.25
185	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	2.25
186	Tufted angioma of skin	Enrichment	KDR	2.25
187	Lacrimoauriculodentodigital syndrome 2	Enrichment	FGFR3	2.25
188	Symptomatic form of coffin-lowry syndrome in female carriers	Enrichment	RPS6KA3	2.25
189	Hypospadias	Enrichment	PIK3CA	2.25
190	Craniodigital syndrome and intellectual disability syndrome	Enrichment	CSNK2B	2.25
191	Capillary hemangioma	Enrichment	AKT3	2.25
192	Congenital pulmonary airway malformation	Enrichment	KRAS	2.25
193	Rare venous malformation	Enrichment	PIK3CA	2.25
194	Immune dysregulation, neurodevelopmental defects, and colitis	Enrichment	ITGAV	2.25
195	Diaphragmatic eventration	Enrichment	PIK3CA	2.25
196	Fgfr3-related chondrodysplasia	Enrichment	FGFR3	2.25
197	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	2.25
198	Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency	Enrichment	CHUK	2.25
199	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	Enrichment	FGFR3	2.25
200	Rare combined vascular malformation	Enrichment	PIK3CA	2.25
201	Cavernous lymphangioma	Enrichment	PIK3CA	2.25
202	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	2.25
203	Oculocerebrodental syndrome	Enrichment	PIK3C2A	2.25
204	Phakomatosis pigmentokeratotica	Enrichment	HRAS	2.25
205	Hartsfield-bixler-demyer syndrome	Enrichment	FGFR1	2.25
206	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	2.25
207	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	2.25
208	Non-syndromic unicoronal craniosynostosis	Enrichment	FGFR2	2.25
209	Macrodactyly of toe	Enrichment	PIK3CA	2.25
210	Serous carcinoma of the corpus uteri	Enrichment	ERBB2	2.25
211	Neurocutaneous melanocytosis	Enrichment	NRAS	2.25
212	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	2.25
213	Premature aging syndrome, penttinen type	Enrichment	PDGFRB	2.17
214	Caspase 8 deficiency	Enrichment	CASP8	2.17
215	Hypereosinophilic syndrome, idiopathic	Enrichment	PDGFRA	2.17
216	Melorheostosis, isolated	Enrichment	MAP2K1	2.17
217	Seckel syndrome 1	Enrichment	ATR	2.17
218	Cardiofaciocutaneous syndrome 3	Enrichment	MAP2K1	2.17
219	Myofibromatosis, infantile, 1	Enrichment	PDGFRB	2.17
220	Gist-plus syndrome	Enrichment	PDGFRA	2.17
221	Vitreoretinopathy, neovascular inflammatory	Enrichment	CAPN5	2.17
222	Bone marrow failure syndrome 5	Enrichment	TP53	2.17
223	Papilloma of choroid plexus	Enrichment	TP53	2.17
224	Basal cell carcinoma 7	Enrichment	TP53	2.17
225	Myeloid and lymphoid neoplasms associated with pdgfra rearrangement	Enrichment	PDGFRA	2.17
226	Anaplastic thyroid carcinoma	Enrichment	TP53	2.17
227	Tumor predisposition syndrome 4	Enrichment	CHEK2	2.17
228	Autoimmune lymphoproliferative syndrome, type iia	Enrichment	CASP10	2.17
229	Melorheostosis	Enrichment	MAP2K1	2.17
230	Cutaneous telangiectasia and cancer syndrome, familial	Enrichment	ATR	2.17
231	Basal ganglia calcification, idiopathic, 4	Enrichment	PDGFRB	2.17
232	Cardiofaciocutaneous syndrome 4	Enrichment	MAP2K2	2.17
233	Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement	Enrichment	PDGFRB	2.17
234	Endometrial serous adenocarcinoma	Enrichment	ATM	2.17
235	Ductal carcinoma in situ	Enrichment	TP53	2.17
236	Kosaki overgrowth syndrome	Enrichment	PDGFRB	2.17
237	Developmental and epileptic encephalopathy 56	Enrichment	YWHAG	2.17
238	Leiomyosarcoma	Enrichment	CHEK2	2.17
239	Ocular pterygium-digital keloid dysplasia syndrome	Enrichment	PDGFRB	2.17
240	Thyroid gland undifferentiated carcinoma	Enrichment	TP53	2.17
241	Polycystic ovary syndrome	Enrichment	CAPN10	2.17
242	Small-cell carcinoma of the ovary of hypercalcemic type	Enrichment	TP53	2.17
243	Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype	Enrichment	TP53	2.17
244	Oocyte/zygote/embryo maturation arrest 21	Enrichment	CHEK1	2.17
245	B-cell non-hodgkin lymphoma	Enrichment	ATM	2.17
246	Choroid plexus cancer	Enrichment	TP53	2.17
247	Progressive muscular atrophy	Enrichment	CAPN3	2.17
248	Pleomorphic xanthoastrocytoma	Enrichment	TP53	2.17
249	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Enrichment	ATR	2.17
250	Qualitative or quantitative defects of calpain	Enrichment	CAPN3	2.17
251	Distal 17p13.3 microdeletion syndrome	Enrichment	YWHAE	2.17
252	Type 1 diabetes mellitus 10	Enrichment	IL2RA	2.17
253	Febrile seizures, familial, 8	Enrichment	GABRG2	2.17
254	Epilepsy, idiopathic generalized 13	Enrichment	GABRA1	2.17
255	Accelerated tumor formation	Enrichment	MDM2	2.17
256	Developmental and epileptic encephalopathy 74	Enrichment	GABRG2	2.17
257	Developmental and epileptic encephalopathy 79	Enrichment	GABRA5	2.17
258	Lessel-kubisch syndrome	Enrichment	MDM2	2.17
259	Osteofibrous dysplasia	Enrichment	MET	2.17
260	Epilepsy, x-linked 2, with or without impaired intellectual development and dysmorphic features	Enrichment	GABRA3	2.17
261	Epilepsy, idiopathic generalized 10	Enrichment	GABRD	2.17
262	Chronic recurrent multifocal osteomyelitis 3	Enrichment	IL1R1	2.17
263	Allergic rhinitis	Enrichment	IL13	2.17
264	Developmental and epileptic encephalopathy 19	Enrichment	GABRA1	2.17
265	Deafness, autosomal recessive 97	Enrichment	MET	2.17
266	Autism 9	Enrichment	MET	2.17
267	Epilepsy, childhood absence 5	Enrichment	GABRB3	2.17
268	Developmental and epileptic encephalopathy 92	Enrichment	GABRB2	2.17
269	Developmental and epileptic encephalopathy 43	Enrichment	GABRB3	2.17
270	Developmental and epileptic encephalopathy 45	Enrichment	GABRB1	2.17
271	Adenoid ameloblastoma	Enrichment	CTNNB1	2.17
272	Arthrogryposis, distal, type 11	Enrichment	MET	2.17
273	Microcystic stromal tumor	Enrichment	CTNNB1	2.17
274	Diffuse large b-cell lymphoma	Enrichment	CHEK2, TP53	2.15
275	Tetralogy of fallot	Enrichment	FLT4, KDR	2.02
276	Hydrops fetalis, nonimmune	Enrichment	FLT4, HRAS	2.02
277	Lymphatic malformation 1	Enrichment	FLT4	1.95
278	Costello syndrome	Enrichment	HRAS	1.95
279	Insensitivity to pain, congenital, with anhidrosis	Enrichment	NTRK1	1.95
280	Visceral neuropathy, familial, 1, autosomal recessive	Enrichment	ERBB3	1.95
281	Intracranial hypertension, idiopathic	Enrichment	FLT4	1.95
282	Immunodeficiency 33	Enrichment	IKBKG	1.95
283	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Enrichment	PIK3R5	1.95
284	Ectodermal dysplasia and immunodeficiency 2	Enrichment	NFKBIA	1.95
285	Microvascular complications of diabetes 5	Enrichment	TGFBR2	1.95
286	Hyperinsulinemic hypoglycemia, familial, 4	Enrichment	INSR	1.95
287	Aural atresia, congenital	Enrichment	FGFR2	1.95
288	Roifman-chitayat syndrome	Enrichment	PIK3CD	1.95
289	Fibrodysplasia ossificans progressiva	Enrichment	ACVR1	1.95
290	Angioma, tufted	Enrichment	KDR	1.95
291	Noonan syndrome 8	Enrichment	PIK3CA	1.95
292	Spermatogenic failure 17	Enrichment	PIK3C2G	1.95
293	Immunodeficiency, common variable, 12, with autoimmunity	Enrichment	NFKB1	1.95
294	Immunodeficiency, common variable, 10	Enrichment	NFKB2	1.95
295	Pain sensitivity quantitative trait locus 1	Enrichment	NTRK1	1.95
296	Antley-bixler syndrome without genital anomalies or disordered steroidogenesis	Enrichment	FGFR2	1.95
297	Poirier-bienvenu neurodevelopmental syndrome	Enrichment	CSNK2B	1.95
298	Autoinflammatory disease, familial, behcet-like 3	Enrichment	RELA	1.95
299	Rela fusion-positive ependymoma	Enrichment	RELA	1.95
300	Senior-loken syndrome 7	Enrichment	AKT3	1.95
301	Split hand-foot malformation	Enrichment	FGFR2	1.95
302	Congenital mesoblastic nephroma	Enrichment	NTRK3	1.95
303	Immune system disease	Enrichment	PIK3CD	1.95
304	Fibrosarcoma	Enrichment	NTRK3	1.95
305	Bardet-biedl syndrome 16	Enrichment	AKT3	1.95
306	Hereditary lymphedema i	Enrichment	FLT4	1.95
307	Glucosephosphate dehydrogenase deficiency	Enrichment	IKBKG	1.95
308	Hereditary mixed polyposis syndrome	Enrichment	BMPR1A	1.95
309	Interfrontal craniofaciosynostosis	Enrichment	FGFR1	1.95
310	Autosomal dominant nonsyndromic deafness	Enrichment	FGFR2	1.95
311	Common variable immunodeficiency 12	Enrichment	NFKB1	1.95
312	Juvenile polyposis of infancy	Enrichment	BMPR1A	1.95
313	Wooly hair nevus	Enrichment	HRAS	1.95
314	Hirschsprung disease 1	Enrichment	ERBB2, ERBB3	1.93
315	Myeloproliferative disorder, chronic, with eosinophilia	Enrichment	PDGFRB	1.87
316	Adrenocortical carcinoma, hereditary	Enrichment	TP53	1.87
317	Lymphoma, hodgkin, classic	Enrichment	TP53	1.87
318	Spastic paraplegia 76, autosomal recessive	Enrichment	CAPN1	1.87
319	Congenital heart defects, multiple types, 3	Enrichment	CHEK2	1.87
320	Cardiac valvular dysplasia, x-linked	Enrichment	ATM	1.87
321	Infantile myofibromatosis	Enrichment	PDGFRB	1.87
322	Intravascular large b-cell lymphoma	Enrichment	BCL2	1.87
323	Congenital fibrosarcoma	Enrichment	TP53	1.87
324	High grade glioma	Enrichment	ATM	1.87
325	Hodgkin's lymphoma	Enrichment	TP53	1.87
326	T-cell prolymphocytic leukemia	Enrichment	ATM	1.87
327	Chronic eosinophilic leukemia	Enrichment	PDGFRA	1.87
328	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality	Enrichment	PDGFRA	1.87
329	Pleomorphic rhabdomyosarcoma	Enrichment	TP53	1.87
330	Tafro syndrome	Enrichment	MAP2K2	1.87
331	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	1.87
332	Immunodeficiency 41 with lymphoproliferation and autoimmunity	Enrichment	IL2RA	1.87
333	Cebalid syndrome	Enrichment	MTOR	1.87
334	Papillary renal cell carcinoma	Enrichment	MET	1.87
335	Developmental and epileptic encephalopathy 78	Enrichment	GABRA2	1.87
336	Smith-kingsmore syndrome	Enrichment	MTOR	1.87
337	Houge-janssens syndrome 3	Enrichment	PPP2CA	1.87
338	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	1.87
339	Teratoma	Enrichment	CTNNB1	1.87
340	Connective tissue disease	Enrichment	FGFR3, TGFBR2	1.85
341	Brachydactyly, type a1	Enrichment	BMPR1B	1.77
342	Achondroplasia	Enrichment	FGFR3	1.77
343	Brachydactyly, type c	Enrichment	BMPR1B	1.77
344	Prognathism, mandibular	Enrichment	CSNK2B	1.77
345	Hypogonadotropic hypogonadism 2 with or without anosmia	Enrichment	FGFR1	1.77
346	Larsen syndrome	Enrichment	FGFR3	1.77
347	Thyroid carcinoma, familial medullary	Enrichment	NTRK1	1.77
348	Juvenile polyposis syndrome	Enrichment	BMPR1A	1.77
349	Acromesomelic dysplasia 2a	Enrichment	BMPR1B	1.77
350	Acromesomelic dysplasia 2c	Enrichment	BMPR1B	1.77
351	Acromesomelic dysplasia 2b	Enrichment	BMPR1B	1.77
352	Pompe disease, infantile-onset	Enrichment	PIK3CA	1.77
353	Transposition of the great arteries, dextro-looped	Enrichment	ACVR1B	1.77
354	Nasopharyngeal carcinoma	Enrichment	NFKBIA	1.77
355	Chromosome 8p11 myeloproliferative syndrome	Enrichment	FGFR1	1.77
356	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	1.77
357	Hamartoma	Enrichment	FGFR3	1.77
358	Testicular germ cell cancer	Enrichment	FGFR3	1.77
359	Growth delay due to insulin-like growth factor i resistance	Enrichment	IGF1R	1.77
360	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	1.77
361	Testicular cancer	Enrichment	FGFR3	1.77
362	Keratoacanthoma	Enrichment	PIK3CA	1.77
363	Type 1 diabetes mellitus 2	Enrichment	CAPN10	1.70
364	Ataxia-telangiectasia	Enrichment	ATM	1.70
365	Polycythemia vera	Enrichment	ATM	1.70
366	Miller-dieker lissencephaly syndrome	Enrichment	YWHAE	1.70
367	Chromosome 17p13.3, centromeric, duplication syndrome	Enrichment	YWHAE	1.70
368	Muscular dystrophy, limb-girdle, autosomal dominant 4	Enrichment	CAPN3	1.70
369	Autosomal recessive limb-girdle muscular dystrophy type 2a	Enrichment	CAPN3	1.70
370	Koolen-de vries syndrome	Enrichment	ATM	1.70
371	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	BCL2	1.70
372	Atypical teratoid rhabdoid tumor	Enrichment	TP53	1.70
373	Anaplastic astrocytoma	Enrichment	TP53	1.70
374	Squamous cell carcinoma	Enrichment	TP53	1.70
375	Desmoid disease, hereditary	Enrichment	CTNNB1	1.70
376	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	1.70
377	Anus, imperforate	Enrichment	CTNNB1	1.70
378	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	1.70
379	Desmoid tumor	Enrichment	CTNNB1	1.70
380	Dedifferentiated liposarcoma	Enrichment	MDM2	1.70
381	T-cell acute lymphoblastic leukemia	Enrichment	BAX	1.70
382	Well-differentiated liposarcoma	Enrichment	MDM2	1.70
383	Thyrotoxic periodic paralysis	Enrichment	GABRA3	1.70
384	Renal cell carcinoma	Enrichment	MET	1.70
385	Brachydactyly, type a2	Enrichment	BMPR1B	1.65
386	Diffuse gastric and lobular breast cancer syndrome	Enrichment	KRAS	1.65
387	Immunodeficiency, common variable, 1	Enrichment	NFKB2	1.65
388	Retinitis pigmentosa 26	Enrichment	ITGA4	1.65
389	Barrett esophagus	Enrichment	ERBB2	1.65
390	Enophthalmos	Enrichment	CSNK2B	1.65
391	Syndactyly	Enrichment	CSNK2B	1.65
392	Hereditary ataxia	Enrichment	PRKCG	1.65
393	Cerebrovascular disease	Enrichment	PIK3CA	1.65
394	Aortic aneurysm	Enrichment	TGFBR1	1.65
395	Pilocytic astrocytoma	Enrichment	KRAS	1.65
396	Epidermolytic nevus	Enrichment	HRAS	1.65
397	Familial cerebral cavernous malformations	Enrichment	PIK3CA	1.65
398	Non-syndromic bicoronal craniosynostosis	Enrichment	FGFR3	1.65
399	Type 2 diabetes mellitus	Enrichment	AKT2, INSR	1.63
400	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	TGFBR1, TGFBR2	1.59
401	Small cell cancer of the lung	Enrichment	TP53	1.58
402	Thyroid cancer, nonmedullary, 1	Enrichment	TP53	1.58
403	Autoimmune lymphoproliferative syndrome	Enrichment	CASP10	1.58
404	Neurofibromatosis-noonan syndrome	Enrichment	MAP2K2	1.58
405	Mantle cell lymphoma	Enrichment	ATM	1.58
406	Embryonal rhabdomyosarcoma	Enrichment	TP53	1.58
407	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	YWHAZ	1.58
408	Hemoglobin c disease	Enrichment	CHEK2	1.58
409	Oculomotor apraxia	Enrichment	ATM	1.58
410	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	CHEK1	1.58
411	Focal cortical dysplasia, type ii	Enrichment	MTOR	1.58
412	Pilomatrixoma	Enrichment	CTNNB1	1.58
413	Alazami syndrome	Enrichment	CTNNB1	1.58
414	Autosomal dominant nocturnal frontal lobe epilepsy	Enrichment	GABRG2	1.58
415	Craniopharyngioma	Enrichment	CTNNB1	1.58
416	Isolated focal cortical dysplasia type ii	Enrichment	MTOR	1.58
417	Capillary malformations, congenital	Enrichment	PIK3CA	1.55
418	Anemia, congenital, nonspherocytic hemolytic, 1	Enrichment	IKBKG	1.55
419	Insulin-like growth factor i	Enrichment	IGF1R	1.55
420	Holoprosencephaly	Enrichment	FGFR1	1.55
421	Generalized juvenile polyposis/juvenile polyposis coli	Enrichment	BMPR1A	1.55
422	Familial cerebral saccular aneurysm	Enrichment	TGFBR3	1.55
423	Epilepsy	Enrichment	GABRA1, GABRB3	1.53
424	Autosomal dominant non-syndromic intellectual disability	Enrichment	CSNK2B, ERBB4	1.49
425	Alzheimer disease 2	Enrichment	NOS3	1.48
426	Rhabdomyosarcoma 2	Enrichment	TP53	1.48
427	Follicular lymphoma	Enrichment	BCL2	1.48
428	Lymphoma	Enrichment	TP53	1.48
429	Autosomal recessive limb-girdle muscular dystrophy type 2b	Enrichment	CAPN3	1.48
430	Glioblastoma	Enrichment	ATM	1.48
431	Acute megakaryocytic leukemia	Enrichment	TP53	1.48
432	Endometrial stromal sarcoma	Enrichment	YWHAE	1.48
433	Exudative vitreoretinopathy 1	Enrichment	CTNNB1	1.48
434	Klippel-trenaunay-weber syndrome	Enrichment	PIK3CA	1.47
435	Split-hand/foot malformation 1	Enrichment	FGFR2	1.47
436	Hemihyperplasia, isolated	Enrichment	PIK3CA	1.47
437	Holoprosencephaly 1	Enrichment	FGFR1	1.47
438	Testicular germ cell tumor	Enrichment	FGFR3	1.47
439	Classic ehlers-danlos syndrome	Enrichment	TGFBR1	1.47
440	Neuropathy, hereditary sensory and autonomic, type v	Enrichment	NTRK1	1.41
441	Megacolon	Enrichment	AKT3	1.41
442	Muscular dystrophy, limb-girdle, autosomal recessive 1	Enrichment	CAPN3	1.40
443	Wilms tumor 5	Enrichment	CHEK2	1.40
444	Clear cell renal cell carcinoma	Enrichment	ATM	1.40
445	Kidney clear cell sarcoma	Enrichment	YWHAE	1.40
446	Angelman syndrome	Enrichment	GABRG3	1.40
447	Alcohol dependence	Enrichment	GABRA2	1.40
448	Weyers acrofacial dysostosis	Enrichment	CTNNB1	1.40
449	Epilepsy, childhood absence 1	Enrichment	GABRB3	1.40
450	Gastroesophageal reflux	Enrichment	RPS6KA3	1.35
451	Orthostatic intolerance	Enrichment	RPS6KA3	1.35
452	Gastrointestinal stromal tumor	Enrichment	PDGFRA	1.34
453	Essential thrombocythemia	Enrichment	TP53	1.34
454	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	TP53	1.34
455	Oligoarticular juvenile idiopathic arthritis	Enrichment	IL2RA	1.34
456	Rheumatoid factor-negative juvenile idiopathic arthritis	Enrichment	IL2RA	1.34
457	Inflammatory bowel disease 1	Enrichment	PRKCQ	1.30
458	Coronary heart disease 5	Enrichment	IKBKG	1.30
459	Hypogonadotropic hypogonadism	Enrichment	FGFR1	1.30
460	Ventricular septal defect	Enrichment	RPS6KA3	1.30
461	Basal ganglia calcification, idiopathic, 1	Enrichment	PDGFRB	1.28
462	Congenital muscular dystrophy	Enrichment	CAPN3	1.28
463	Arthrogryposis, distal, type 1a	Enrichment	MET	1.28
464	Exudative vitreoretinopathy	Enrichment	CTNNB1	1.28
465	Meier-gorlin syndrome 1	Enrichment	FGFR2	1.26
466	Stroke, ischemic	Enrichment	PRKCH	1.26
467	Ciliary dyskinesia, primary, 3	Enrichment	NFKB1	1.26
468	Polymicrogyria	Enrichment	AKT3	1.26
469	Primary bone dysplasia	Enrichment	FGFR3	1.26
470	Primary hyperaldosteronism	Enrichment	TP53	1.23
471	Limb-girdle muscular dystrophy	Enrichment	CAPN3	1.23
472	Pectus excavatum	Enrichment	TGFBR1	1.22
473	Osteochondrodysplasia	Enrichment	FGFR3	1.22
474	Melanoma	Enrichment	CHEK2	1.19
475	Familial colorectal cancer	Enrichment	TP53	1.19
476	Epicanthus	Enrichment	ACVR1	1.18
477	Septooptic dysplasia	Enrichment	FGFR1	1.18
478	Renal hypodysplasia/aplasia 3	Enrichment	FGFR3	1.18
479	Neural tube defects	Enrichment	ITGB1	1.15
480	Chromosome 1p36 deletion syndrome	Enrichment	PRKCZ	1.15
481	Protein-deficiency anemia	Enrichment	NRAS	1.15
482	Migraine with or without aura 1	Enrichment	CAPN3	1.15
483	Immune deficiency disease	Enrichment	ATM	1.15
484	Myelodysplastic syndrome	Enrichment	TP53	1.15
485	Asthma	Enrichment	IL13	1.15
486	Hypogonadotropic hypogonadism 7 with or without anosmia	Enrichment	FGFR1	1.12
487	Isolated macular dystrophy	Enrichment	ITGA4	1.12
488	Muscular dystrophy, limb-girdle, autosomal recessive 2	Enrichment	CAPN3	1.11
489	Microform holoprosencephaly	Enrichment	FGFR1	1.06
490	Lobar holoprosencephaly	Enrichment	FGFR1	1.06
491	Seckel syndrome	Enrichment	ATR	1.05
492	Cleft lip/palate	Enrichment	PDGFRA	1.05
493	Medulloblastoma	Enrichment	CTNNB1	1.05
494	Wilms tumor 1	Enrichment	CHEK2	1.02
495	Rare genetic intellectual disability	Enrichment	MTOR	1.02
496	Semilobar holoprosencephaly	Enrichment	FGFR1	1.01
497	Normosmic congenital hypogonadotropic hypogonadism	Enrichment	FGFR1	1.01
498	Creatine phosphokinase, elevated serum	Enrichment	CAPN3	0.99
499	Isolated elevated serum creatine phosphokinase levels	Enrichment	CAPN3	0.99
500	Ehlers-danlos syndrome	Enrichment	TGFBR2	0.99
501	Alzheimer disease, familial, 1	Enrichment	NOS3	0.97
502	Hypertension, essential	Enrichment	NOS3	0.97
503	Dandy-walker syndrome	Enrichment	PDGFRB	0.97
504	Polycystic liver disease	Enrichment	CTNNB1	0.97
505	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1	0.97
506	Tooth agenesis	Enrichment	FGFR1	0.93
507	Autosomal recessive limb-girdle muscular dystrophy	Enrichment	CAPN3	0.92
508	Malaria	Enrichment	IKBKG	0.91
509	Kallmann syndrome	Enrichment	FGFR1	0.91
510	Autism spectrum disorder	Enrichment	CSNK2A1, CSNK2B	0.90
511	Diamond-blackfan anemia 1	Enrichment	TP53	0.84
512	Muscular dystrophy	Enrichment	CAPN3	0.83
513	Severe covid-19	Enrichment	ITGAV	0.82
514	Congenital nervous system abnormality	Enrichment	CTNNB1, FGFR3	0.80
515	Nervous system disease	Enrichment	CTNNB1, FGFR3	0.80
516	Severe combined immunodeficiency	Enrichment	IKBKB	0.77
517	Non-syndromic x-linked intellectual disability	Enrichment	RPS6KA3	0.73
518	Microcephaly	Enrichment	IGF1R, YWHAG	0.70
519	Diamond-blackfan anemia	Enrichment	TP53	0.67
520	West syndrome	Enrichment	NTRK2	0.65
521	Cerebral palsy	Enrichment	PDGFRB	0.64
522	Myopathy	Enrichment	CAPN3	0.63
523	Benign epilepsy with centrotemporal spikes	Enrichment	GABRG2	0.62
524	Centralopathic epilepsy	Enrichment	GABRG2	0.60
525	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	ERBB4	0.55
526	Cone-rod dystrophy 2	Enrichment	ITGA4	0.49
527	Schizophrenia	Enrichment	GABRB2	0.48
528	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	MET	0.35
529	Complex neurodevelopmental disorder	Enrichment	CSNK2A1	0.29
530	Hereditary retinal dystrophy	Enrichment	ITGA4	0.09
531	Fundus dystrophy	Enrichment	ITGA4	0.09

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

NF-kappaB Pathway

Pathway Network for NF-kappaB Pathway

Pathway network for the NF-kappaB Pathway SuperPath

Member Pathways for NF-kappaB Pathway

Pathways in the NF-kappaB Pathway SuperPath

Gene overlap in member pathways for NF-kappaB Pathway SuperPath

Associated Genes for NF-kappaB Pathway

Associated Disorders for NF-kappaB Pathway

Disorders associated with NF-kappaB Pathway SuperPath

STRING Interaction Network for NF-kappaB Pathway

Sources for NF-kappaB Pathway