Nuclear events mediated by NFE2L2

Pathway network for the Nuclear events mediated by NFE2L2 SuperPath

Sources:

Reactome

Pathways in the Nuclear events mediated by NFE2L2 SuperPath

#	Name	Source	Genes
1	Nuclear events mediated by NFE2L2	Reactome	ABCC1 ABCC3 ABCF2 ABCG2 ADRM1 AREG ATF4 BACH1 BCL2 BCL2L1 BTRC CCL2 CDKN2A CHD6 CREBBP CUL1 EGF EP300 G6PD GCLC GCLM GSK3B GSR GSTA1 GSTA3 HMOX1 IDH1 KEAP1 MAFG MAFK ME1 MYC NFE2L2 NFKB1 NOTCH1 NQO1 PDGFA PGD PRDX1 PRKAA2 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RBX1 RELA RPS27A SEM1 SKP1 SLC7A11 SOD3 SP1 SQSTM1 SRXN1 TALDO1 TKT TXN TXNRD1 UBA52 UBB UBC (see all 87) (see less)
2	Cellular response to chemical stress	Reactome	ABCC1 ABCC3 ABCF2 ABCG2 ADRM1 AKT1 AKT2 AKT3 ALB AMER1 AQP8 AREG ATF4 ATOX1 ATP7A BACH1 BCL2 BCL2L1 BLVRA BLVRB BRCA1 BTRC CARM1 CAT CCL2 CCS CDKN1A CDKN2A CHD6 CHD9 COX4I1 COX4I2 COX5A COX5B COX6A1 COX6A2 COX6B1 COX6B2 COX6C COX7A1 COX7A2 COX7A2L COX7B COX7C COX8A COX8C COXFA4 CREBBP CSNK2A1 CSNK2A2 CSNK2B CUL1 CUL3 CYBA CYBB DPP3 EGF EIF2AK3 EP300 ERO1A FABP1 FBXL17 G6PD GCLC GCLM GPX1 GPX2 GPX3 GPX5 GPX6 GPX7 GPX8 GSK3B GSR GSTA1 GSTA3 GSTP1 HBA1 HBA2 HBB HDAC3 HELZ2 HIGD1C HM13 HMOX1 HMOX2 IDH1 KEAP1 MAFG MAFK MAP1LC3B ME1 MED1 MT-CO1 MT-CO2 MT-CO3 MUL1 MYC NCF1 NCF2 NCF4 NCOA1 NCOA2 NCOA6 NCOR1 NCOR2 NFE2L2 NFKB1 NLRP3 NOTCH1 NOX4 NOX5 NPLOC4 NQO1 NUDT2 P4HB PALB2 PDGFA PGD PPARA PRDX1 PRDX2 PRDX3 PRDX5 PRDX6 PRKAA2 PRKCD PRKCI PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 PTK6 RBX1 RELA RPS27A RXRA SEM1 SESN1 SESN2 SIN3A SIN3B SKP1 SKP2 SLC7A11 SMARCD3 SOD1 SOD2 SOD3 SP1 SQSTM1 SRXN1 STAP2 STAT3 TALDO1 TBL1X TBL1XR1 TGS1 TKT TRIM21 TXN TXN2 TXNIP TXNRD1 TXNRD2 UBA52 UBB UBC UBXN7 UFD1 VCP (see all 197) (see less)
3	KEAP1-NFE2L2 pathway	Reactome	ABCC1 ABCC3 ABCF2 ABCG2 ADRM1 AKT1 AKT2 AKT3 AMER1 AREG ATF4 BACH1 BCL2 BCL2L1 BRCA1 BTRC CCL2 CDKN1A CDKN2A CHD6 CREBBP CSNK2A1 CSNK2A2 CSNK2B CUL1 CUL3 DPP3 EGF EIF2AK3 EP300 FBXL17 G6PD GCLC GCLM GSK3B GSR GSTA1 GSTA3 HMOX1 IDH1 KEAP1 MAFG MAFK MAP1LC3B ME1 MUL1 MYC NFE2L2 NFKB1 NOTCH1 NPLOC4 NQO1 PALB2 PDGFA PGD PRDX1 PRKAA2 PRKCD PRKCI PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RBX1 RELA RPS27A SEM1 SESN1 SESN2 SKP1 SKP2 SLC7A11 SOD3 SP1 SQSTM1 SRXN1 TALDO1 TKT TRIM21 TXN TXNRD1 UBA52 UBB UBC UBXN7 UFD1 VCP (see all 113) (see less)
4	NFE2L2 regulating anti-oxidant/detoxification enzymes	Reactome	ATF4 BACH1 CHD6 CREBBP EP300 GCLC GCLM GSR GSTA1 GSTA3 HMOX1 MAFK NFE2L2 NQO1 PRDX1 SLC7A11 SOD3 SRXN1 TXN TXNRD1 (see all 20) (see less)
5	NFE2L2 regulating tumorigenic genes	Reactome	AREG BCL2 BCL2L1 CREBBP EGF EP300 MAFK NFE2L2 NOTCH1 PDGFA SP1 (see all 11) (see less)
6	Regulation of BACH1 activity	Reactome	BACH1 CUL1 FBXL17 MAFK RBX1 RPS27A SKP1 SKP2 UBA52 UBB UBC (see all 11) (see less)
7	NFE2L2 regulates pentose phosphate pathway genes	Reactome	CREBBP EP300 G6PD MAFG NFE2L2 PGD TALDO1 TKT (see all 8) (see less)
8	Regulation of NFE2L2 gene expression	Reactome	CREBBP EP300 MAFK MYC NFE2L2 NFKB1 NOTCH1 RELA (see all 8) (see less)
9	NFE2L2 regulating MDR associated enzymes	Reactome	ABCC1 ABCC3 ABCF2 ABCG2 CREBBP EP300 MAFK NFE2L2 (see all 8) (see less)
10	NFE2L2 regulating inflammation associated genes	Reactome	CCL2 CREBBP EP300 MAFK NFE2L2
11	NFE2L2 regulating ER-stress associated genes	Reactome	ATF4 CREBBP EP300 MAFK NFE2L2
12	NFE2L2 regulating TCA cycle genes	Reactome	IDH1 ME1 NFE2L2

Gene overlap in member pathways for Nuclear events mediated by NFE2L2 SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	NFE2L2	NFE2 Like BZIP Transcription Factor 2	Protein Coding	11
2	CREBBP	CREB Binding Lysine Acetyltransferase	Protein Coding	10
3	EP300	EP300 Lysine Acetyltransferase	Protein Coding	10
4	MAFK	MAF BZIP Transcription Factor K	Protein Coding	10
5	ATF4	Activating Transcription Factor 4	Protein Coding	5
6	NOTCH1	Notch Receptor 1	Protein Coding	5
7	BACH1	BACH Transcriptional Regulator 1	Protein Coding	5
8	ABCF2	ATP Binding Cassette Subfamily F Member 2	Protein Coding	4
9	SRXN1	Sulfiredoxin 1	Protein Coding	4
10	NQO1	NAD(P)H Quinone Dehydrogenase 1	Protein Coding	4
11	EGF	Epidermal Growth Factor	Protein Coding	4
12	SLC7A11	Solute Carrier Family 7 Member 11	Protein Coding	4
13	G6PD	Glucose-6-Phosphate Dehydrogenase	Protein Coding	4
14	GCLC	Glutamate-Cysteine Ligase Catalytic Subunit	Protein Coding	4
15	GCLM	Glutamate-Cysteine Ligase Modifier Subunit	Protein Coding	4
16	GSR	Glutathione-Disulfide Reductase	Protein Coding	4
17	GSTA1	Glutathione S-Transferase Alpha 1	Protein Coding	4
18	GSTA3	Glutathione S-Transferase Alpha 3	Protein Coding	4
19	HMOX1	Heme Oxygenase 1	Protein Coding	4
20	IDH1	Isocitrate Dehydrogenase (NADP(+)) 1	Protein Coding	4
21	AREG	Amphiregulin	Protein Coding	4
22	MAFG	MAF BZIP Transcription Factor G	Protein Coding	4
23	ME1	Malic Enzyme 1	Protein Coding	4
24	ABCC1	ATP Binding Cassette Subfamily C Member 1 (ABCC1 Blood Group)	Protein Coding	4
25	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	4
26	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	4
27	PRDX1	Peroxiredoxin 1	Protein Coding	4
28	PDGFA	Platelet Derived Growth Factor Subunit A	Protein Coding	4
29	PGD	Phosphogluconate Dehydrogenase	Protein Coding	4
30	BCL2	BCL2 Apoptosis Regulator	Protein Coding	4
31	RELA	RELA Proto-Oncogene, NF-KB Subunit	Protein Coding	4
32	BCL2L1	BCL2 Like 1	Protein Coding	4
33	RPS27A	Ribosomal Protein S27a	Protein Coding	4
34	CCL2	C-C Motif Chemokine Ligand 2	Protein Coding	4
35	SKP1	S-Phase Kinase Associated Protein 1	Protein Coding	4
36	SOD3	Superoxide Dismutase 3	Protein Coding	4
37	SP1	Sp1 Transcription Factor	Protein Coding	4
38	TALDO1	Transaldolase 1	Protein Coding	4
39	TKT	Transketolase	Protein Coding	4
40	TXN	Thioredoxin	Protein Coding	4
41	TXNRD1	Thioredoxin Reductase 1	Protein Coding	4
42	UBA52	Ubiquitin A-52 Residue Ribosomal Protein Fusion Product 1	Protein Coding	4
43	UBB	Ubiquitin B	Protein Coding	4
44	UBC	Ubiquitin C	Protein Coding	4
45	CHD6	Chromodomain Helicase DNA Binding Protein 6	Protein Coding	4
46	CUL1	Cullin 1	Protein Coding	4
47	ABCC3	ATP Binding Cassette Subfamily C Member 3	Protein Coding	4
48	ABCG2	ATP Binding Cassette Subfamily G Member 2 (JR Blood Group)	Protein Coding	4
49	RBX1	Ring-Box 1	Protein Coding	4
50	PSMD14	Proteasome 26S Subunit, Non-ATPase 14	Protein Coding	3
51	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	3
52	ADRM1	ADRM1 26S Proteasome Ubiquitin Receptor	Protein Coding	3
53	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	3
54	PRKAA2	Protein Kinase AMP-Activated Catalytic Subunit Alpha 2	Protein Coding	3
55	PSMA1	Proteasome 20S Subunit Alpha 1	Protein Coding	3
56	PSMA2	Proteasome 20S Subunit Alpha 2	Protein Coding	3
57	PSMA3	Proteasome 20S Subunit Alpha 3	Protein Coding	3
58	PSMA4	Proteasome 20S Subunit Alpha 4	Protein Coding	3
59	PSMA5	Proteasome 20S Subunit Alpha 5	Protein Coding	3
60	PSMA6	Proteasome 20S Subunit Alpha 6	Protein Coding	3
61	PSMA7	Proteasome 20S Subunit Alpha 7	Protein Coding	3
62	PSMB1	Proteasome 20S Subunit Beta 1	Protein Coding	3
63	PSMB2	Proteasome 20S Subunit Beta 2	Protein Coding	3
64	PSMB3	Proteasome 20S Subunit Beta 3	Protein Coding	3
65	PSMB4	Proteasome 20S Subunit Beta 4	Protein Coding	3
66	PSMB5	Proteasome 20S Subunit Beta 5	Protein Coding	3
67	PSMB6	Proteasome 20S Subunit Beta 6	Protein Coding	3
68	PSMB7	Proteasome 20S Subunit Beta 7	Protein Coding	3
69	PSMC1	Proteasome 26S Subunit, ATPase 1	Protein Coding	3
70	PSMC2	Proteasome 26S Subunit, ATPase 2	Protein Coding	3
71	PSMC3	Proteasome 26S Subunit, ATPase 3	Protein Coding	3
72	PSMC4	Proteasome 26S Subunit, ATPase 4	Protein Coding	3
73	PSMC5	Proteasome 26S Subunit, ATPase 5	Protein Coding	3
74	PSMC6	Proteasome 26S Subunit, ATPase 6	Protein Coding	3
75	PSMD1	Proteasome 26S Subunit, Non-ATPase 1	Protein Coding	3
76	PSMD2	Proteasome 26S Subunit Ubiquitin Receptor, Non-ATPase 2	Protein Coding	3
77	PSMD3	Proteasome 26S Subunit, Non-ATPase 3	Protein Coding	3
78	PSMD7	Proteasome 26S Subunit, Non-ATPase 7	Protein Coding	3
79	PSMD8	Proteasome 26S Subunit, Non-ATPase 8	Protein Coding	3
80	PSMD11	Proteasome 26S Subunit, Non-ATPase 11	Protein Coding	3
81	PSMD12	Proteasome 26S Subunit, Non-ATPase 12	Protein Coding	3
82	PSMD13	Proteasome 26S Subunit, Non-ATPase 13	Protein Coding	3
83	SEM1	SEM1 26S Proteasome Subunit	Protein Coding	3
84	SQSTM1	Sequestosome 1	Protein Coding	3
85	BTRC	Beta-Transducin Repeat Containing E3 Ubiquitin Protein Ligase	Protein Coding	3
86	KEAP1	Kelch Like ECH Associated Protein 1	Protein Coding	3
87	PSMD6	Proteasome 26S Subunit, Non-ATPase 6	Protein Coding	3
88	FBXL17	F-Box And Leucine Rich Repeat Protein 17	Protein Coding	3
89	SKP2	S-Phase Kinase Associated Protein 2	Protein Coding	3
90	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	2
91	DPP3	Dipeptidyl Peptidase 3	Protein Coding	2
92	CDKN1A	Cyclin Dependent Kinase Inhibitor 1A	Protein Coding	2
93	AMER1	APC Membrane Recruitment Protein 1	Protein Coding	2
94	CSNK2A1	Casein Kinase 2 Alpha 1	Protein Coding	2
95	CSNK2A2	Casein Kinase 2 Alpha 2	Protein Coding	2
96	CSNK2B	Casein Kinase 2 Beta	Protein Coding	2
97	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	2
98	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	2
99	UBXN7	UBX Domain Protein 7	Protein Coding	2
100	SESN1	Sestrin 1	Protein Coding	2
101	NPLOC4	NPL4 Homolog, Ubiquitin Recognition Factor	Protein Coding	2
102	PRKCD	Protein Kinase C Delta	Protein Coding	2
103	PRKCI	Protein Kinase C Iota	Protein Coding	2
104	BRCA1	BRCA1 DNA Repair Associated	Protein Coding	2
105	TRIM21	Tripartite Motif Containing 21	Protein Coding	2
106	UFD1	Ubiquitin Recognition Factor In ER Associated Degradation 1	Protein Coding	2
107	VCP	Valosin Containing Protein	Protein Coding	2
108	MUL1	Mitochondrial E3 Ubiquitin Protein Ligase 1	Protein Coding	2
109	PALB2	Partner And Localizer Of BRCA2	Protein Coding	2
110	MAP1LC3B	Microtubule Associated Protein 1 Light Chain 3 Beta	Protein Coding	2
111	SESN2	Sestrin 2	Protein Coding	2
112	CUL3	Cullin 3	Protein Coding	2
113	EIF2AK3	Eukaryotic Translation Initiation Factor 2 Alpha Kinase 3	Protein Coding	2
114	CARM1	Coactivator Associated Arginine Methyltransferase 1	Protein Coding	1
115	NCOA2	Nuclear Receptor Coactivator 2	Protein Coding	1
116	TXNRD2	Thioredoxin Reductase 2	Protein Coding	1
117	TXNIP	Thioredoxin Interacting Protein	Protein Coding	1
118	PRDX3	Peroxiredoxin 3	Protein Coding	1
119	NLRP3	NLR Family Pyrin Domain Containing 3	Protein Coding	1
120	COX6B2	Cytochrome C Oxidase Subunit 6B2	Protein Coding	1
121	COX4I1	Cytochrome C Oxidase Subunit 4I1	Protein Coding	1
122	COX5B	Cytochrome C Oxidase Subunit 5B	Protein Coding	1
123	COX6A1	Cytochrome C Oxidase Subunit 6A1	Protein Coding	1
124	COX6A2	Cytochrome C Oxidase Subunit 6A2	Protein Coding	1
125	COX6B1	Cytochrome C Oxidase Subunit 6B1	Protein Coding	1
126	COX6C	Cytochrome C Oxidase Subunit 6C	Protein Coding	1
127	COX7A1	Cytochrome C Oxidase Subunit 7A1	Protein Coding	1
128	COX7A2	Cytochrome C Oxidase Subunit 7A2	Protein Coding	1
129	COX7B	Cytochrome C Oxidase Subunit 7B	Protein Coding	1
130	COX7C	Cytochrome C Oxidase Subunit 7C	Protein Coding	1
131	COX8A	Cytochrome C Oxidase Subunit 8A	Protein Coding	1
132	CYBA	Cytochrome B-245 Alpha Chain	Protein Coding	1
133	CYBB	Cytochrome B-245 Beta Chain	Protein Coding	1
134	ALB	Albumin	Protein Coding	1
135	FABP1	Fatty Acid Binding Protein 1	Protein Coding	1
136	NCOA6	Nuclear Receptor Coactivator 6	Protein Coding	1
137	SIN3B	SIN3 Transcription Regulator Family Member B	Protein Coding	1
138	GPX6	Glutathione Peroxidase 6	Protein Coding	1
139	PRDX5	Peroxiredoxin 5	Protein Coding	1
140	TXN2	Thioredoxin 2	Protein Coding	1
141	SIN3A	SIN3 Transcription Regulator Family Member A	Protein Coding	1
142	GPX1	Glutathione Peroxidase 1	Protein Coding	1
143	GPX2	Glutathione Peroxidase 2	Protein Coding	1
144	GPX3	Glutathione Peroxidase 3	Protein Coding	1
145	GPX5	Glutathione Peroxidase 5	Protein Coding	1
146	GPX7	Glutathione Peroxidase 7	Protein Coding	1
147	GSTP1	Glutathione S-Transferase Pi 1	Protein Coding	1
148	ERO1A	Endoplasmic Reticulum Oxidoreductase 1 Alpha	Protein Coding	1
149	HBA1	Hemoglobin Subunit Alpha 1	Protein Coding	1
150	HBA2	Hemoglobin Subunit Alpha 2	Protein Coding	1
151	HBB	Hemoglobin Subunit Beta	Protein Coding	1
152	HMOX2	Heme Oxygenase 2	Protein Coding	1
153	NUDT2	Nudix Hydrolase 2	Protein Coding	1
154	COX8C	Cytochrome C Oxidase Subunit 8C	Protein Coding	1
155	AQP8	Aquaporin 8	Protein Coding	1
156	MT-CO1	Mitochondrially Encoded Cytochrome C Oxidase I	Protein Coding	1
157	MT-CO2	Mitochondrially Encoded Cytochrome C Oxidase II	Protein Coding	1
158	MT-CO3	Mitochondrially Encoded Cytochrome C Oxidase III	Protein Coding	1
159	NCF2	Neutrophil Cytosolic Factor 2	Protein Coding	1
160	NCF4	Neutrophil Cytosolic Factor 4	Protein Coding	1
161	COXFA4	Cytochrome C Oxidase Associated Subunit FA4	Protein Coding	1
162	ATOX1	Antioxidant 1 Copper Chaperone	Protein Coding	1
163	GPX8	Glutathione Peroxidase 8 (Putative)	Protein Coding	1
164	P4HB	Prolyl 4-Hydroxylase Subunit Beta	Protein Coding	1
165	NOX4	NADPH Oxidase 4	Protein Coding	1
166	ATP7A	ATPase Copper Transporting Alpha	Protein Coding	1
167	PPARA	Peroxisome Proliferator Activated Receptor Alpha	Protein Coding	1
168	MED1	Mediator Complex Subunit 1	Protein Coding	1
169	STAP2	Signal Transducing Adaptor Family Member 2	Protein Coding	1
170	PTK6	Protein Tyrosine Kinase 6	Protein Coding	1
171	HIGD1C	HIG1 Hypoxia Inducible Domain Family Member 1C	Protein Coding	1
172	RXRA	Retinoid X Receptor Alpha	Protein Coding	1
173	BLVRA	Biliverdin Reductase A	Protein Coding	1
174	BLVRB	Biliverdin Reductase B	Protein Coding	1
175	NCF1	Neutrophil Cytosolic Factor 1	Protein Coding	1
176	SMARCD3	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit D3	Protein Coding	1
177	SOD1	Superoxide Dismutase 1	Protein Coding	1
178	SOD2	Superoxide Dismutase 2	Protein Coding	1
179	STAT3	Signal Transducer And Activator Of Transcription 3	Protein Coding	1
180	TBL1X	Transducin Beta Like 1 X-Linked	Protein Coding	1
181	PRDX2	Peroxiredoxin 2	Protein Coding	1
182	NOX5	NADPH Oxidase 5	Protein Coding	1
183	TBL1XR1	TBL1X/Y Related 1	Protein Coding	1
184	CHD9	Chromodomain Helicase DNA Binding Protein 9	Protein Coding	1
185	HM13	Histocompatibility Minor 13	Protein Coding	1
186	CAT	Catalase	Protein Coding	1
187	COX4I2	Cytochrome C Oxidase Subunit 4I2	Protein Coding	1
188	HELZ2	Helicase With Zinc Finger 2	Protein Coding	1
189	NCOA1	Nuclear Receptor Coactivator 1	Protein Coding	1
190	HDAC3	Histone Deacetylase 3	Protein Coding	1
191	COX7A2L	Cytochrome C Oxidase Subunit 7A2 Like	Protein Coding	1
192	COX5A	Cytochrome C Oxidase Subunit 5A	Protein Coding	1
193	PRDX6	Peroxiredoxin 6	Protein Coding	1
194	NCOR1	Nuclear Receptor Corepressor 1	Protein Coding	1
195	NCOR2	Nuclear Receptor Corepressor 2	Protein Coding	1
196	TGS1	Trimethylguanosine Synthase 1	Protein Coding	1
197	CCS	Copper Chaperone For Superoxide Dismutase	Protein Coding	1

Disorders associated with Nuclear events mediated by NFE2L2 SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Cox deficiency, benign infantile mitochondrial myopathy	Enrichment	COX4I1, COX5A, COX6A2, COX6B1, COX8A, MT-CO1, MT-CO2, MT-CO3	10.86
2	Chronic granulomatous disease	Enrichment	CYBA, CYBB, NCF1, NCF2, NCF4	7.13
3	Mitochondrial complex iv deficiency, nuclear type 1	Enrichment	COX4I1, COX6B1, COX8A, MT-CO1, MT-CO2, MT-CO3	6.27
4	Rubinstein-taybi syndrome 1	Enrichment	CREBBP, EP300	5.79
5	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	CREBBP, EP300	5.79
6	Rare genetic intellectual disability	Enrichment	CREBBP, EP300	4.94
7	Methemoglobinemia, beta type	Enrichment	HBA1, HBA2, HBB	4.23
8	Autosomal dominant secondary polycythemia	Enrichment	HBA1, HBA2, HBB	4.23
9	Spastic paraplegia-paget disease of bone syndrome	Enrichment	SQSTM1, VCP	4.16
10	Colorectal cancer	Enrichment	AKT1, AMER1, BRCA1, EP300, NFE2L2, PALB2	4.07
11	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	BCL2, MYC	3.92
12	Heinz body anemias	Enrichment	HBA1, HBA2, HBB	3.80
13	Heinz body anemia	Enrichment	HBA1, HBA2, HBB	3.80
14	Witteveen-kolk syndrome	Enrichment	SIN3A, SIN3B	3.68
15	Immunodeficiency, developmental delay, and hypohomocysteinemia	Enrichment	NFE2L2	3.66
16	Metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria	Enrichment	IDH1	3.66
17	Mitochondrial myopathy, infantile, transient	Enrichment	MT-CO1, MT-CO2, MT-CO3	3.62
18	Alpha-thalassemia	Enrichment	HBA1, HBA2, HBB	3.62
19	Mitochondrial myopathy with reversible cytochrome c oxidase deficiency	Enrichment	MT-CO1, MT-CO2, MT-CO3	3.47
20	Myocardial infarction	Enrichment	GCLC, GCLM, PSMA6	3.44
21	Menke-hennekam syndrome 1	Enrichment	CREBBP	3.43
22	Rubinstein-taybi syndrome due to 16p13.3 microdeletion	Enrichment	CREBBP	3.43
23	Menke-hennekam syndrome	Enrichment	CREBBP	3.43
24	Tetralogy of fallot	Enrichment	MT-CO1, MT-CO2, MT-CO3, NOTCH1	3.30
25	Short stature, developmental delay, and congenital heart defects	Enrichment	TKT	3.23
26	Congenital nonspherocytic hemolytic anemia	Enrichment	G6PD	3.23
27	Uric acid concentration, serum, quantitative trait locus 1	Enrichment	ABCG2	3.23
28	Deafness, autosomal dominant 77	Enrichment	ABCC1	3.23
29	Blood group, junior system	Enrichment	ABCG2	3.23
30	Granulomatous disease, chronic, autosomal recessive, 2	Enrichment	NCF1, NCF2	3.21
31	Menkes disease	Enrichment	ATP7A, EIF2AK3	3.21
32	Alpha thalassemia-intellectual disability syndrome type 1	Enrichment	HBA1, HBA2	3.21
33	Enchondromatosis	Enrichment	IDH1	3.18
34	Thumb deformity	Enrichment	CREBBP	3.13
35	Menke-hennekam syndrome 2	Enrichment	EP300	3.13
36	Acute myeloid leukemia with kat6a-crebbp fusion	Enrichment	CREBBP	3.13
37	Protein-deficiency anemia	Enrichment	HBA1, HBA2, HBB	3.11
38	Hypomagnesemia 4, renal	Enrichment	EGF	3.09
39	Egf-related primary hypomagnesemia with intellectual disability	Enrichment	EGF	3.09
40	Cystic fibrosis	Enrichment	GCLC, HMOX1	3.00
41	Tethered spinal cord syndrome	Enrichment	CREBBP	2.96
42	Intraocular pressure quantitative trait locus	Enrichment	CREBBP	2.96
43	Enchondromatosis, multiple, ollier type	Enrichment	IDH1	2.96
44	Paroxysmal extreme pain disorder	Enrichment	IDH1	2.96
45	Isolated split hand-split foot malformation	Enrichment	BTRC, SEM1	2.95
46	Pancreatic cancer	Enrichment	BRCA1, CDKN2A, PALB2	2.95
47	Transaldolase deficiency	Enrichment	TALDO1	2.93
48	Congenital hemolytic anemia	Enrichment	G6PD	2.93
49	Glucosephosphate dehydrogenase deficiency	Enrichment	G6PD	2.93
50	Burkitt lymphoma	Enrichment	MYC	2.93
51	Adams-oliver syndrome 5	Enrichment	NOTCH1	2.93
52	Immunodeficiency, common variable, 12, with autoimmunity	Enrichment	NFKB1	2.93
53	Autoinflammatory disease, familial, behcet-like 3	Enrichment	RELA	2.93
54	Rela fusion-positive ependymoma	Enrichment	RELA	2.93
55	Common variable immunodeficiency 12	Enrichment	NFKB1	2.93
56	Granulomatous disease, chronic, x-linked	Enrichment	CYBB, NCF1	2.91
57	Erythrocytosis, familial, 7	Enrichment	HBA1, HBA2	2.91
58	Hemoglobin h disease	Enrichment	HBA1, HBA2	2.91
59	Hereditary recurrent myoglobinuria	Enrichment	MT-CO1, MT-CO3	2.91
60	Anemia, congenital, nonspherocytic hemolytic, 7	Enrichment	GCLC	2.83
61	Anemia, congenital, nonspherocytic hemolytic, 10	Enrichment	GSR	2.83
62	Heme oxygenase 1 deficiency	Enrichment	HMOX1	2.83
63	Multiple enchondromatosis, maffucci type	Enrichment	IDH1	2.81
64	Intravascular large b-cell lymphoma	Enrichment	BCL2	2.79
65	Submucosal cleft palate	Enrichment	UBB	2.79
66	Cleft hard palate	Enrichment	UBB	2.79
67	Bladder cancer	Enrichment	BRCA1, CDKN1A, CDKN2A	2.76
68	Keratoacanthoma	Enrichment	NOTCH1	2.75
69	Glioma susceptibility 1	Enrichment	IDH1	2.75
70	Rubinstein-taybi syndrome 2	Enrichment	EP300	2.73
71	Thalassemia	Enrichment	HBA2, HBB	2.69
72	Hypertrichosis	Enrichment	CREBBP	2.66
73	Lung cancer	Enrichment	BRCA1, NFE2L2, PALB2	2.63
74	Behavioral variant of frontotemporal dementia	Enrichment	SQSTM1, VCP	2.62
75	Uvula, bifid	Enrichment	UBB	2.61
76	Cleft soft palate	Enrichment	UBB	2.61
77	Diffuse large b-cell lymphoma	Enrichment	CREBBP, STAT3, TBL1XR1	2.61
78	Anemia, congenital, nonspherocytic hemolytic, 1	Enrichment	G6PD	2.53
79	Hallermann-streiff syndrome	Enrichment	CHD6	2.53
80	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Enrichment	SQSTM1, VCP	2.53
81	Polymicrogyria	Enrichment	AKT3, PSMC3	2.53
82	Charge syndrome	Enrichment	EP300	2.48
83	Gliosarcoma	Enrichment	IDH1	2.45
84	Uterine corpus cancer	Enrichment	BRCA1, PALB2	2.44
85	Giant cell glioblastoma	Enrichment	IDH1	2.43
86	Follicular lymphoma	Enrichment	BCL2	2.39
87	Adams-oliver syndrome	Enrichment	NOTCH1	2.38
88	Common variable immunodeficiency	Enrichment	NFKB1	2.38
89	Beta-thalassemia	Enrichment	HBA2, HBB	2.38
90	Beta-thalassemia major	Enrichment	HBA2, HBB	2.38
91	Hypoplastic left heart syndrome	Enrichment	NOTCH1	2.33
92	Breast-ovarian cancer, familial 1	Enrichment	BRCA1, PALB2	2.30
93	Heart disease	Enrichment	CREBBP	2.29
94	Coronary heart disease 5	Enrichment	G6PD	2.28
95	Gastric cancer	Enrichment	BRCA1, CDKN2A, PALB2	2.26
96	Polydactyly, postaxial, type a1	Enrichment	EP300	2.26
97	Corpus callosum, agenesis of	Enrichment	CREBBP	2.26
98	Isolated corpus callosum agenesis	Enrichment	CREBBP	2.26
99	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	CREBBP	2.26
100	Hereditary breast carcinoma	Enrichment	AKT1, BRCA1, PALB2	2.24
101	Ciliary dyskinesia, primary, 3	Enrichment	NFKB1	2.23
102	Mitochondrial complex v deficiency, mitochondrial type 1	Enrichment	MT-CO1, MT-CO2, MT-CO3	2.21
103	Neuropathy, ataxia, and retinitis pigmentosa	Enrichment	MT-CO1, MT-CO2, MT-CO3	2.21
104	Striatonigral degeneration, infantile, mitochondrial	Enrichment	MT-CO1, MT-CO2, MT-CO3	2.21
105	Camptodactyly of fingers	Enrichment	MT-CO1, MT-CO2, MT-CO3	2.21
106	Paget disease of bone 3	Enrichment	SQSTM1	2.19
107	Myopathy, distal, with rimmed vacuoles	Enrichment	SQSTM1	2.19
108	Neurodevelopmental disorder with microcephaly, hypotonia, and absent language	Enrichment	PSMB1	2.19
109	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	Enrichment	SQSTM1	2.19
110	Stankiewicz-isidor syndrome	Enrichment	PSMD12	2.19
111	Deafness, cataract, impaired intellectual development, and polyneuropathy	Enrichment	PSMC3	2.19
112	Cdkn2a cancer predisposition	Enrichment	CDKN2A	2.19
113	Human immunodeficiency virus type 1	Enrichment	CCL2	2.18
114	Adult hepatocellular carcinoma	Enrichment	EGF	2.14
115	Aortic valve disease 1	Enrichment	NOTCH1	2.12
116	Aortic aneurysm, familial thoracic 1	Enrichment	NOTCH1	2.08
117	Palmoplantar keratoderma, punctate type ii	Enrichment	BRCA1	2.08
118	Proteus syndrome	Enrichment	AKT1	2.08
119	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	2.08
120	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	Enrichment	VCP	2.08
121	Pseudohypoaldosteronism, type iie	Enrichment	CUL3	2.08
122	Autoimmune lymphoproliferative syndrome, type iii	Enrichment	PRKCD	2.08
123	Infant-type hemispheric glioma	Enrichment	BRCA1	2.08
124	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	2.08
125	Cowden syndrome 6	Enrichment	AKT1	2.08
126	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Enrichment	VCP	2.08
127	Neurodevelopmental disorder with or without autism or seizures	Enrichment	CUL3	2.08
128	Okur-chung neurodevelopmental syndrome	Enrichment	CSNK2A1	2.08
129	Multisystem proteinopathy	Enrichment	VCP	2.08
130	Adult-onset distal myopathy due to vcp mutation	Enrichment	VCP	2.08
131	Craniodigital syndrome and intellectual disability syndrome	Enrichment	CSNK2B	2.08
132	Capillary hemangioma	Enrichment	AKT3	2.08
133	Basal cell carcinoma	Enrichment	PALB2	2.08
134	Primary peritoneal carcinoma	Enrichment	BRCA1	2.08
135	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	2.08
136	Familial colorectal cancer	Enrichment	MT-CO1, MT-CO2	2.06
137	Scoliosis	Enrichment	CREBBP	2.05
138	Leukemia, acute myeloid	Enrichment	IDH1	2.05
139	Precursor t-cell acute lymphoblastic leukemia	Enrichment	CDKN2A, MYC	2.03
140	Ovarian cancer	Enrichment	AKT1, BRCA1, CDKN2A, PALB2	2.00
141	Methylmalonic aciduria and homocystinuria, cblc type	Enrichment	PRDX1	1.93
142	Melanoma-astrocytoma syndrome	Enrichment	CDKN2A	1.89
143	Welander distal myopathy	Enrichment	SQSTM1	1.89
144	Melanoma, cutaneous malignant 2	Enrichment	CDKN2A	1.89
145	Goiter, multinodular 1, with or without sertoli-leydig cell tumors	Enrichment	KEAP1	1.89
146	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	Enrichment	SQSTM1	1.89
147	Birk-aharoni syndrome	Enrichment	PSMC1	1.89
148	Proteasome-associated autoinflammatory syndrome 3	Enrichment	PSMB4	1.89
149	Melanoma-pancreatic cancer syndrome	Enrichment	CDKN2A	1.89
150	Paget's disease of bone	Enrichment	SQSTM1	1.89
151	17q24.2 microdeletion syndrome	Enrichment	PSMD12	1.89
152	Malaria	Enrichment	G6PD	1.87
153	Cole-carpenter syndrome 1	Enrichment	P4HB	1.84
154	Granulomatous disease, chronic, autosomal recessive, 4	Enrichment	CYBA	1.84
155	Linear skin defects with multiple congenital anomalies 2	Enrichment	COX7B	1.84
156	Neuronopathy, distal hereditary motor, x-linked	Enrichment	ATP7A	1.84
157	Hypothyroidism, congenital, nongoitrous, 8	Enrichment	TBL1X	1.84
158	Immunodeficiency 34	Enrichment	CYBB	1.84
159	Myoglobinuria, recurrent	Enrichment	MT-CO1	1.84
160	Cinca syndrome	Enrichment	NLRP3	1.84
161	Keratoendotheliitis fugax hereditaria	Enrichment	NLRP3	1.84
162	Microvascular complications of diabetes 6	Enrichment	SOD2	1.84
163	Familial cold autoinflammatory syndrome 1	Enrichment	NLRP3	1.84
164	Hyperbiliverdinemia	Enrichment	BLVRA	1.84
165	Hyperthyroxinemia, familial dysalbuminemic	Enrichment	ALB	1.84
166	Muckle-wells syndrome	Enrichment	NLRP3	1.84
167	Spinocerebellar ataxia, autosomal recessive 32	Enrichment	PRDX3	1.84
168	Mitochondrial complex iv deficiency, nuclear type 18	Enrichment	COX6A2	1.84
169	Deafness, autosomal dominant 34, with or without inflammation	Enrichment	NLRP3	1.84
170	Combined oxidative phosphorylation deficiency 29	Enrichment	TXN2	1.84
171	Occipital horn syndrome	Enrichment	ATP7A	1.84
172	T-cell large granular lymphocyte leukemia	Enrichment	STAT3	1.84
173	Glucocorticoid deficiency 5	Enrichment	TXNRD2	1.84
174	Acatalasemia	Enrichment	CAT	1.84
175	Glutathione peroxidase deficiency	Enrichment	GPX1	1.84
176	Corneal dystrophy, punctiform and polychromatic pre-descemet	Enrichment	PRDX3	1.84
177	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis	Enrichment	COX4I2	1.84
178	Autoimmune disease, multisystem, infantile-onset, 1	Enrichment	STAT3	1.84
179	Congenital analbuminemia	Enrichment	ALB	1.84
180	Mitochondrial complex iv deficiency, nuclear type 7	Enrichment	COX6B1	1.84
181	Mitochondrial complex iv deficiency, nuclear type 20	Enrichment	COX5A	1.84
182	Mitochondrial complex iv deficiency, nuclear type 16	Enrichment	COX4I1	1.84
183	Mitochondrial complex iv deficiency, nuclear type 21	Enrichment	COXFA4	1.84
184	Mitochondrial complex iv deficiency, nuclear type 15	Enrichment	COX8A	1.84
185	Sickle cell-beta-thalassemia disease syndrome	Enrichment	HBB	1.84
186	Intellectual developmental disorder with or without peripheral neuropathy	Enrichment	NUDT2	1.84
187	Analbuminemia	Enrichment	ALB	1.84
188	Charcot-marie-tooth disease, recessive intermediate d	Enrichment	COX6A1	1.84
189	Pancreatic insufficiency-anemia-hyperostosis syndrome	Enrichment	COX4I2	1.84
190	Chromosome 15q24 deletion syndrome	Enrichment	SIN3A	1.84
191	Hemoglobin c-beta-thalassemia syndrome	Enrichment	HBB	1.84
192	Stat3-related early-onset multisystem autoimmune disease	Enrichment	STAT3	1.84
193	Autosomal dominant spastic ataxia	Enrichment	MT-CO3	1.84
194	Sickle cell s-o arab disease	Enrichment	HBB	1.84
195	Sickle cell-beta zero-thalassemia	Enrichment	HBB	1.84
196	Cryopyrin associated periodic syndrome	Enrichment	NLRP3	1.84
197	Familial amyloid nephropathy with urticaria and deafness	Enrichment	NLRP3	1.84
198	Sickle cell s-d punjab disease	Enrichment	HBB	1.84
199	Sickle cell s-c disease	Enrichment	HBB	1.84
200	Chronic lymphoproliferative disorder of natural killer cells	Enrichment	STAT3	1.84
201	Sickle cell s-e disease	Enrichment	HBB	1.84
202	Homozygous hemoglobin o arab disease	Enrichment	HBB	1.84
203	Sickle cell s-other specified hemoglobin variant	Enrichment	HBB	1.84
204	Acute promyelocytic leukemia	Enrichment	STAT3, TBL1XR1	1.83
205	Leber hereditary optic neuropathy, modifier of	Enrichment	MT-CO1, MT-CO2, MT-CO3	1.79
206	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	Enrichment	EIF2AK3	1.78
207	Osteopathia striata with cranial sclerosis	Enrichment	AMER1	1.78
208	Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia	Enrichment	VCP	1.78
209	Fanconi anemia, complementation group n	Enrichment	PALB2	1.78
210	Pseudohypoaldosteronism, type i, autosomal dominant	Enrichment	CUL3	1.78
211	Pancreatic cancer 3	Enrichment	PALB2	1.78
212	Fanconi anemia, complementation group s	Enrichment	BRCA1	1.78
213	Poirier-bienvenu neurodevelopmental syndrome	Enrichment	CSNK2B	1.78
214	Pancreatic cancer 4	Enrichment	BRCA1	1.78
215	Senior-loken syndrome 7	Enrichment	AKT3	1.78
216	Bardet-biedl syndrome 16	Enrichment	AKT3	1.78
217	Inflammatory breast carcinoma	Enrichment	BRCA1	1.78
218	Peritoneum cancer	Enrichment	BRCA1	1.78
219	Bilateral breast cancer	Enrichment	BRCA1	1.78
220	Neuroendocrine tumor of pancreas	Enrichment	PALB2	1.78
221	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	Enrichment	MT-CO1, MT-CO2, MT-CO3	1.76
222	Connective tissue disease	Enrichment	NOTCH1	1.73
223	Pulmonary disease, chronic obstructive	Enrichment	HMOX1	1.72
224	Proteasome-associated autoinflammatory syndrome 1	Enrichment	PSMB4	1.72
225	Proteosome-associated autoinflammatory syndrome	Enrichment	PSMB4	1.72
226	Thyroid hemiagenesis	Enrichment	PSMD3	1.72
227	Myeloma, multiple	Enrichment	CREBBP	1.69
228	Prostate cancer	Enrichment	BRCA1, PALB2	1.62
229	Breast cancer	Enrichment	AKT1, BRCA1, PALB2	1.61
230	Prognathism, mandibular	Enrichment	CSNK2B	1.61
231	Pseudohypoaldosteronism, type iia	Enrichment	CUL3	1.61
232	Breast-ovarian cancer, familial 5	Enrichment	PALB2	1.61
233	Inclusion body myopathy with paget disease of bone and frontotemporal dementia	Enrichment	VCP	1.61
234	Paget disease of bone 2, early-onset	Enrichment	SQSTM1	1.59
235	Paget's disease of bone 2	Enrichment	SQSTM1	1.59
236	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	NOTCH1	1.59
237	Autism	Enrichment	CREBBP	1.58
238	Granulomatous disease, chronic, autosomal recessive, 1	Enrichment	NCF1	1.54
239	Granulomatous disease, chronic, autosomal recessive, 3	Enrichment	NCF4	1.54
240	Albinism, oculocutaneous, type ia	Enrichment	NOX4	1.54
241	Methemoglobinemia, alpha type	Enrichment	HBA1	1.54
242	Kala-azar 2	Enrichment	GSTP1	1.54
243	Pericardial effusion	Enrichment	NLRP3	1.54
244	Spastic tetraplegia and axial hypotonia, progressive	Enrichment	SOD1	1.54
245	Hemoglobin lepore-beta-thalassemia syndrome	Enrichment	HBB	1.54
246	Sickle cell s-lepore disease	Enrichment	HBB	1.54
247	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	ABCC1	1.52
248	Chordoma	Enrichment	PALB2	1.48
249	Polyposis syndrome, hereditary mixed, 1	Enrichment	BRCA1	1.48
250	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3	1.48
251	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3	1.48
252	Cholangiocarcinoma	Enrichment	BRCA1	1.48
253	Enophthalmos	Enrichment	CSNK2B	1.48
254	Syndactyly	Enrichment	CSNK2B	1.48
255	Fanconi anemia, complementation group a	Enrichment	BRCA1, PALB2	1.47
256	Developmental dysplasia of the hip 1	Enrichment	PSMC3	1.42
257	Li-fraumeni syndrome	Enrichment	CDKN2A	1.42
258	Patent ductus arteriosus	Enrichment	PSMC3	1.42
259	Adrenocortical carcinoma	Enrichment	CDKN2A	1.42
260	Lung squamous cell carcinoma	Enrichment	CDKN2A	1.42
261	Congenital nervous system abnormality	Enrichment	CREBBP	1.41
262	Nervous system disease	Enrichment	CREBBP	1.41
263	Hypertelorism	Enrichment	MT-CO1, MT-CO2, MT-CO3	1.40
264	Dementia, lewy body	Enrichment	VCP	1.39
265	Breast-ovarian cancer, familial 2	Enrichment	BRCA1	1.39
266	Charcot-marie-tooth disease, axonal, type 2e	Enrichment	VCP	1.39
267	Hemimegalencephaly	Enrichment	AKT3	1.39
268	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	STAT3	1.37
269	Keratoderma, palmoplantar, with deafness	Enrichment	MT-CO1	1.37
270	Autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia	Enrichment	CYBA	1.37
271	Pierpont syndrome	Enrichment	TBL1XR1	1.37
272	Linear skin defects with multiple congenital anomalies 1	Enrichment	COX7B	1.37
273	Breast implant-associated anaplastic large cell lymphoma	Enrichment	STAT3	1.37
274	Hyper ige syndrome	Enrichment	STAT3	1.37
275	Hemoglobin e disease	Enrichment	HBB	1.37
276	Intellectual developmental disorder, autosomal dominant 41	Enrichment	TBL1XR1	1.37
277	Autoimmune polyendocrine syndrome type 1	Enrichment	CYBA	1.37
278	Cole-carpenter syndrome	Enrichment	P4HB	1.37
279	Sickle cell-hemoglobin c disease	Enrichment	HBB	1.37
280	Hemoglobin d disease	Enrichment	HBB	1.37
281	Myelodysplastic syndrome with ring sideroblasts	Enrichment	MT-CO1	1.37
282	Delta beta-thalassemia	Enrichment	HBB	1.37
283	Unstable hemoglobin disease	Enrichment	HBB	1.37
284	Hemoglobin e/beta thalassemia disease	Enrichment	HBB	1.37
285	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	CDKN2A	1.36
286	Microcephaly	Enrichment	EP300	1.35
287	Breast adenocarcinoma	Enrichment	AKT1	1.31
288	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	SOD1, SQSTM1, VCP	1.28
289	Hydrops fetalis, nonimmune	Enrichment	HBA1, HBA2	1.27
290	Ehlers-danlos syndrome, arthrochalasia type, 1	Enrichment	ALB	1.25
291	Sickle cell disease	Enrichment	HBB	1.25
292	Beta-thalassemia, dominant inclusion body type	Enrichment	HBB	1.25
293	Erythrocytosis, familial, 6	Enrichment	HBB	1.25
294	Beta-thalassemia intermedia	Enrichment	HBB	1.25
295	Hemoglobinopathy	Enrichment	HBB	1.25
296	Hemoglobin c disease	Enrichment	HBB	1.25
297	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	Enrichment	HBB	1.25
298	Methemoglobinemia, beta-globin type	Enrichment	HBB	1.25
299	Multiple endocrine neoplasia, type i	Enrichment	CDKN1A	1.24
300	Megacolon	Enrichment	AKT3	1.24
301	Melanoma	Enrichment	CDKN2A	1.21
302	Autism spectrum disorder	Enrichment	CSNK2A1, CSNK2B, CUL3	1.20
303	Leukemia, acute lymphoblastic	Enrichment	CDKN2A	1.17
304	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	Enrichment	SOD1	1.15
305	Autosomal recessive cerebellar ataxia	Enrichment	PRDX3	1.15
306	Familial glucocorticoid deficiency	Enrichment	TXNRD2	1.15
307	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	Enrichment	HBB	1.15
308	Leukemia, acute lymphoblastic 3	Enrichment	PALB2	1.14
309	Progressive non-fluent aphasia	Enrichment	VCP	1.14
310	Colonic benign neoplasm	Enrichment	PALB2	1.14
311	Cowden syndrome	Enrichment	AKT1	1.14
312	Lip and oral cavity carcinoma	Enrichment	CDKN2A	1.13
313	Hereditary breast ovarian cancer syndrome	Enrichment	BRCA1, PALB2	1.11
314	Leigh syndrome, nuclear	Enrichment	MT-CO1, MT-CO2, MT-CO3	1.10
315	Lynch syndrome 1	Enrichment	PALB2	1.10
316	Osteogenesis imperfecta, type i	Enrichment	P4HB	1.08
317	Deafness, nonsyndromic sensorineural, mitochondrial	Enrichment	MT-CO1	1.08
318	Complex neurodevelopmental disorder	Enrichment	CSNK2A1, CUL3, PSMD12	1.07
319	Digeorge syndrome	Enrichment	UFD1	1.02
320	Meningioma	Enrichment	AKT1	1.02
321	Motor neuron disease	Enrichment	SOD1	1.01
322	Hemolytic anemia	Enrichment	HBB	1.01
323	Inherited cancer-predisposing syndrome	Enrichment	BRCA1, CDKN2A, PALB2	1.01
324	Leigh disease	Enrichment	MT-CO1, MT-CO2, MT-CO3	1.01
325	Alzheimer's disease	Enrichment	VCP	0.99
326	Nk-cell enteropathy	Enrichment	CUL3	0.99
327	Melanoma, cutaneous malignant 1	Enrichment	CDKN2A	0.98
328	Patent foramen ovale	Enrichment	PSMC3	0.96
329	Fetal hemoglobin quantitative trait locus 1	Enrichment	HBB	0.96
330	Permanent neonatal diabetes mellitus	Enrichment	STAT3	0.96
331	Periventricular nodular heterotopia	Enrichment	BRCA1	0.96
332	Cardiomyopathy, familial hypertrophic, 4	Enrichment	NCF1	0.91
333	Rhabdomyosarcoma	Enrichment	BRCA1	0.90
334	Alzheimer disease, familial, 1	Enrichment	VCP	0.88
335	Cleft palate, isolated	Enrichment	AMER1	0.88
336	Mitochondrial disease	Enrichment	MT-CO1, MT-CO2, MT-CO3	0.88
337	Amyotrophic lateral sclerosis 1	Enrichment	SOD1	0.87
338	Rare mitochondrial non-syndromic sensorineural deafness	Enrichment	MT-CO1	0.87
339	Neuropathy, hereditary motor and sensory, okinawa type	Enrichment	VCP	0.83
340	Leber plus disease	Enrichment	MT-CO1, MT-CO2, MT-CO3	0.80
341	Endometrial cancer	Enrichment	BRCA1	0.79
342	Atypical hemolytic-uremic syndrome	Enrichment	HBB	0.71
343	Arteriovenous malformations of the brain	Enrichment	NLRP3	0.61
344	Williams-beuren syndrome	Enrichment	NCF1	0.60
345	Autoinflammatory disease	Enrichment	NLRP3	0.53
346	Type 2 diabetes mellitus	Enrichment	AKT2	0.53
347	Autosomal dominant non-syndromic intellectual disability	Enrichment	CSNK2B	0.47
348	Hirschsprung disease 1	Enrichment	ATP7A	0.46
349	Non-immune hydrops fetalis	Enrichment	HBA2	0.44
350	Peripheral nervous system disease	Enrichment	COX6A1	0.43
351	Neuropathy	Enrichment	COX6A1	0.43
352	Epilepsy	Enrichment	MT-CO3	0.35
353	Familial isolated dilated cardiomyopathy	Enrichment	TXNRD2	0.27
354	Retinitis pigmentosa	Enrichment	MT-CO1, MT-CO2, MT-CO3	0.22

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

Nuclear events mediated by NFE2L2

Pathway Network for Nuclear events mediated by NFE2L2

Pathway network for the Nuclear events mediated by NFE2L2 SuperPath

Member Pathways for Nuclear events mediated by NFE2L2

Pathways in the Nuclear events mediated by NFE2L2 SuperPath

Gene overlap in member pathways for Nuclear events mediated by NFE2L2 SuperPath

Associated Genes for Nuclear events mediated by NFE2L2

Associated Disorders for Nuclear events mediated by NFE2L2

Disorders associated with Nuclear events mediated by NFE2L2 SuperPath

STRING Interaction Network for Nuclear events mediated by NFE2L2

Sources for Nuclear events mediated by NFE2L2