Apoptosis and Autophagy

Pathway network for the Apoptosis and Autophagy SuperPath

Sources:

Cell Signaling Technology
WikiPathways
Reactome
QIAGEN

Pathways in the Apoptosis and Autophagy SuperPath

#	Name	Source	Genes
1	Apoptosis and Autophagy	Cell Signaling Technology	ACIN1 AIFM1 ALKBH7 APAF1 ATRAID AVEN BAD BAK1 BAX BBC3 BCAP31 BCL10 BCL2 BCL2A1 BCL2L1 BCL2L10 BCL2L11 BCL2L2 BECN1 BID BIK BIRC2 BIRC3 BIRC5 BIRC6 BIRC7 BNIP3 BNIP3L BOK CASP1 CASP14 CASP2 CASP3 CASP4 CASP5 CASP6 CASP7 CASP8 CASP9 CCAR2 CD40LG CDIP1 CFLAR COX4I1 CTSB CTSD CXCR4 CYCS DAP DAPK1 DAPK3 DAXX DFFA DIABLO DIDO1 DNAJA3 DYRK1B EI24 EIF4G2 ENDOG FADD FAF1 FAIM FAS FASLG GDF15 GIMAP5 GSDMD GZMA GZMB H2BC3 HIPK2 HTATIP2 HTRA2 IKBKB LGALS1 LMNA LMNB1 LMNB2 MALT1 MAP3K5 MAX MCL1 MFF MLKL MLX MNDA MXD1 MYC MYCN NDRG1 NDRG2 NDRG3 NDRG4 NLRP1 NOD1 NOL3 NQO1 NR4A1 NUAK2 OPA1 PANX1 PARP1 PAWR PDCD4 PDCD6IP PEA15 PHLDA3 PIK3C3 PIM1 PIM2 PIM3 PIR PMAIP1 PSIP1 PTPN11 PTRH2 RIPK1 RIPK2 RIPK3 RUBCN SERPINB5 SFN SH3GLB1 SIRT1 SIVA1 SLK SMPD2 SPTAN1 STK17B STK24 STK3 STK4 TANK TAX1BP1 TFAP2A TFAP2B TFAP2C TFEB TIA1 TIAL1 TIGAR TMPO TNF TNFAIP3 TNFRSF10A TNFRSF10B TNFRSF10C TNFRSF10D TNFRSF11A TNFRSF12A TNFRSF1A TNFRSF1B TNFRSF21 TNFRSF25 TNFRSF6B TNFSF10 TNFSF11 TNFSF12 TRADD TRAF1 TRAF2 TRAF3 TRAF4 TRAF5 TRAF6 TXN TYMP UNC5B URI1 USP10 VDAC1 WWOX XAF1 XIAP YWHAB YWHAE YWHAG YWHAH YWHAQ YWHAZ YY1 ZC3HC1 (see all 183) (see less)
2	Nanomaterial induced apoptosis	WikiPathways	AIFM1 APAF1 BAK1 BAX BCL2 BID CASP3 CASP6 CASP7 CASP8 CASP9 CFLAR CYCS DIABLO ENDOG FADD FAS FASLG HTRA2 PRF1 (see all 20) (see less)
3	Pro-survival signaling of neuroprotectin D1	WikiPathways	BAX BIRC3 CASP3 CASP7 CASP8 CASP9 CYCS FADD PPP2CB RIPK1 RIPK3 TNF TNFRSF1A TRADD TRAF2 (see all 15) (see less)
4	Defective RIPK1-mediated regulated necrosis	Reactome	CASP8 FADD RIPK1 RIPK3 TRAF2
5	AIF Pathway	QIAGEN	AIFM1 BCL2L1 CYCS PARP1
6	Microbial modulation of RIPK1-mediated regulated necrosis	Reactome	CASP8 RIPK1 RIPK3
7	vRNA Synthesis	Reactome	PARP1

Gene overlap in member pathways for Apoptosis and Autophagy SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	CASP8	Caspase 8	Protein Coding	5
2	CYCS	Cytochrome C, Somatic	Protein Coding	4
3	FADD	Fas Associated Via Death Domain	Protein Coding	4
4	RIPK1	Receptor Interacting Serine/Threonine Kinase 1	Protein Coding	4
5	RIPK3	Receptor Interacting Serine/Threonine Kinase 3	Protein Coding	4
6	BAX	BCL2 Associated X, Apoptosis Regulator	Protein Coding	3
7	CASP3	Caspase 3	Protein Coding	3
8	CASP7	Caspase 7	Protein Coding	3
9	CASP9	Caspase 9	Protein Coding	3
10	PARP1	Poly(ADP-Ribose) Polymerase 1	Protein Coding	3
11	AIFM1	Apoptosis Inducing Factor Mitochondria Associated 1	Protein Coding	3
12	TRAF2	TNF Receptor Associated Factor 2	Protein Coding	3
13	APAF1	Apoptotic Peptidase Activating Factor 1	Protein Coding	2
14	BAK1	BCL2 Antagonist/Killer 1	Protein Coding	2
15	BCL2	BCL2 Apoptosis Regulator	Protein Coding	2
16	BCL2L1	BCL2 Like 1	Protein Coding	2
17	BID	BH3 Interacting Domain Death Agonist	Protein Coding	2
18	CASP6	Caspase 6	Protein Coding	2
19	CFLAR	CASP8 And FADD Like Apoptosis Regulator	Protein Coding	2
20	BIRC3	Baculoviral IAP Repeat Containing 3	Protein Coding	2
21	DIABLO	Diablo IAP-Binding Mitochondrial Protein	Protein Coding	2
22	ENDOG	Endonuclease G	Protein Coding	2
23	FAS	Fas Cell Surface Death Receptor	Protein Coding	2
24	FASLG	Fas Ligand	Protein Coding	2
25	HTRA2	HtrA Serine Peptidase 2	Protein Coding	2
26	TNF	Tumor Necrosis Factor	Protein Coding	2
27	TNFRSF1A	TNF Receptor Superfamily Member 1A	Protein Coding	2
28	TRADD	TNFRSF1A Associated Via Death Domain	Protein Coding	2
29	YWHAB	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Beta	Protein Coding	1
30	YWHAE	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Epsilon	Protein Coding	1
31	YWHAH	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Eta	Protein Coding	1
32	YWHAG	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Gamma	Protein Coding	1
33	SFN	Stratifin	Protein Coding	1
34	YWHAQ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Theta	Protein Coding	1
35	YWHAZ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Zeta	Protein Coding	1
36	ACIN1	Apoptotic Chromatin Condensation Inducer 1	Protein Coding	1
37	PDCD6IP	Programmed Cell Death 6 Interacting Protein	Protein Coding	1
38	ALKBH7	AlkB Homolog 7	Protein Coding	1
39	TFAP2A	Transcription Factor AP-2 Alpha	Protein Coding	1
40	TFAP2B	Transcription Factor AP-2 Beta	Protein Coding	1
41	TFAP2C	Transcription Factor AP-2 Gamma	Protein Coding	1
42	ATRAID	All-Trans Retinoic Acid Induced Differentiation Factor	Protein Coding	1
43	NOL3	Nucleolar Protein 3	Protein Coding	1
44	MAP3K5	Mitogen-Activated Protein Kinase Kinase Kinase 5	Protein Coding	1
45	AVEN	Apoptosis And Caspase Activation Inhibitor	Protein Coding	1
46	BAD	BCL2 Associated Agonist Of Cell Death	Protein Coding	1
47	BCAP31	B Cell Receptor Associated Protein 31	Protein Coding	1
48	BCL10	BCL10 Immune Signaling Adaptor	Protein Coding	1
49	BCL2A1	BCL2 Related Protein A1	Protein Coding	1
50	BCL2L10	BCL2 Like 10	Protein Coding	1
51	BCL2L2	BCL2 Like 2	Protein Coding	1
52	BECN1	Beclin 1	Protein Coding	1
53	BIK	BCL2 Interacting Killer	Protein Coding	1
54	BCL2L11	BCL2 Like 11	Protein Coding	1
55	XAF1	XIAP Associated Factor 1	Protein Coding	1
56	BIRC6	Baculoviral IAP Repeat Containing 6	Protein Coding	1
57	BIRC7	Baculoviral IAP Repeat Containing 7	Protein Coding	1
58	BNIP3	BCL2 Interacting Protein 3	Protein Coding	1
59	BNIP3L	BCL2 Interacting Protein 3 Like	Protein Coding	1
60	BOK	BCL2 Family Apoptosis Regulator BOK	Protein Coding	1
61	CASP1	Caspase 1	Protein Coding	1
62	CASP14	Caspase 14	Protein Coding	1
63	CASP2	Caspase 2	Protein Coding	1
64	CASP4	Caspase 4	Protein Coding	1
65	CASP5	Caspase 5	Protein Coding	1
66	CD40LG	CD40 Ligand	Protein Coding	1
67	CDIP1	Cell Death Inducing P53 Target 1	Protein Coding	1
68	BIRC2	Baculoviral IAP Repeat Containing 2	Protein Coding	1
69	COX4I1	Cytochrome C Oxidase Subunit 4I1	Protein Coding	1
70	CTSB	Cathepsin B	Protein Coding	1
71	CTSD	Cathepsin D	Protein Coding	1
72	CXCR4	C-X-C Motif Chemokine Receptor 4	Protein Coding	1
73	DAP	Death Associated Protein	Protein Coding	1
74	DAPK1	Death Associated Protein Kinase 1	Protein Coding	1
75	DAPK3	Death Associated Protein Kinase 3	Protein Coding	1
76	DIDO1	Death Inducer-Obliterator 1	Protein Coding	1
77	DAXX	Death Domain Associated Protein	Protein Coding	1
78	CCAR2	Cell Cycle And Apoptosis Regulator 2	Protein Coding	1
79	DFFA	DNA Fragmentation Factor Subunit Alpha	Protein Coding	1
80	DNAJA3	DnaJ Heat Shock Protein Family (Hsp40) Member A3	Protein Coding	1
81	TNFRSF21	TNF Receptor Superfamily Member 21	Protein Coding	1
82	STK17B	Serine/Threonine Kinase 17b	Protein Coding	1
83	DYRK1B	Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1B	Protein Coding	1
84	TYMP	Thymidine Phosphorylase	Protein Coding	1
85	EI24	EI24 Autophagy Associated Transmembrane Protein	Protein Coding	1
86	EIF4G2	Eukaryotic Translation Initiation Factor 4 Gamma 2	Protein Coding	1
87	SH3GLB1	SH3 Domain Containing GRB2 Like, Endophilin B1	Protein Coding	1
88	FAF1	Fas Associated Factor 1	Protein Coding	1
89	FAIM	Fas Apoptotic Inhibitory Molecule	Protein Coding	1
90	GSDMD	Gasdermin D	Protein Coding	1
91	LGALS1	Galectin 1	Protein Coding	1
92	GDF15	Growth Differentiation Factor 15	Protein Coding	1
93	GIMAP5	GTPase, IMAP Family Member 5	Protein Coding	1
94	GZMA	Granzyme A	Protein Coding	1
95	GZMB	Granzyme B	Protein Coding	1
96	H2BC3	H2B Clustered Histone 3	Protein Coding	1
97	HIPK2	Homeodomain Interacting Protein Kinase 2	Protein Coding	1
98	HTATIP2	HIV-1 Tat Interactive Protein 2	Protein Coding	1
99	IKBKB	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta	Protein Coding	1
100	LMNA	Lamin A/C	Protein Coding	1
101	LMNB1	Lamin B1	Protein Coding	1
102	LMNB2	Lamin B2	Protein Coding	1
103	PSIP1	PC4 And SRSF1 Interacting Protein 1	Protein Coding	1
104	MXD1	MAX Dimerization Protein 1	Protein Coding	1
105	MALT1	MALT1 Paracaspase	Protein Coding	1
106	SERPINB5	Serpin Family B Member 5	Protein Coding	1
107	MAX	MYC Associated Transcriptional Regulator X	Protein Coding	1
108	MCL1	MCL1 Apoptosis Regulator, BCL2 Family Member	Protein Coding	1
109	MFF	Mitochondrial Fission Factor	Protein Coding	1
110	MLKL	Mixed Lineage Kinase Domain Like Pseudokinase	Protein Coding	1
111	MLX	MAX Dimerization Protein MLX	Protein Coding	1
112	MNDA	Myeloid Cell Nuclear Differentiation Antigen	Protein Coding	1
113	STK4	Serine/Threonine Kinase 4	Protein Coding	1
114	STK3	Serine/Threonine Kinase 3	Protein Coding	1
115	STK24	Serine/Threonine Kinase 24	Protein Coding	1
116	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	1
117	MYCN	MYCN Proto-Oncogene, BHLH Transcription Factor	Protein Coding	1
118	NLRP1	NLR Family Pyrin Domain Containing 1	Protein Coding	1
119	NDRG1	N-Myc Downstream Regulated 1	Protein Coding	1
120	NDRG2	NDRG Family Member 2	Protein Coding	1
121	NDRG3	NDRG Family Member 3	Protein Coding	1
122	NDRG4	NDRG Family Member 4	Protein Coding	1
123	ZC3HC1	Zinc Finger C3HC-Type Containing 1	Protein Coding	1
124	NOD1	Nucleotide Binding Oligomerization Domain Containing 1	Protein Coding	1
125	PMAIP1	Phorbol-12-Myristate-13-Acetate-Induced Protein 1	Protein Coding	1
126	NQO1	NAD(P)H Quinone Dehydrogenase 1	Protein Coding	1
127	NUAK2	NUAK Family Kinase 2	Protein Coding	1
128	NR4A1	Nuclear Receptor Subfamily 4 Group A Member 1	Protein Coding	1
129	OPA1	OPA1 Mitochondrial Dynamin Like GTPase	Protein Coding	1
130	PANX1	Pannexin 1	Protein Coding	1
131	PAWR	Pro-Apoptotic WT1 Regulator	Protein Coding	1
132	PDCD4	Programmed Cell Death 4	Protein Coding	1
133	PEA15	Proliferation And Apoptosis Adaptor Protein 15	Protein Coding	1
134	PHLDA3	Pleckstrin Homology Like Domain Family A Member 3	Protein Coding	1
135	PIK3C3	Phosphatidylinositol 3-Kinase Catalytic Subunit Type 3	Protein Coding	1
136	PIM1	Pim-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
137	PIM2	Pim-2 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
138	PIM3	Pim-3 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
139	PIR	Pirin	Protein Coding	1
140	PTRH2	Peptidyl-TRNA Hydrolase 2	Protein Coding	1
141	BBC3	BCL2 Binding Component 3	Protein Coding	1
142	RIPK2	Receptor Interacting Serine/Threonine Kinase 2	Protein Coding	1
143	URI1	URI1 Prefoldin Like Chaperone	Protein Coding	1
144	RUBCN	Rubicon Autophagy Regulator	Protein Coding	1
145	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	1
146	SIRT1	Sirtuin 1	Protein Coding	1
147	SIVA1	SIVA1 Apoptosis Inducing Factor	Protein Coding	1
148	SLK	STE20 Like Kinase	Protein Coding	1
149	SMPD2	Sphingomyelin Phosphodiesterase 2	Protein Coding	1
150	SPTAN1	Spectrin Alpha, Non-Erythrocytic 1	Protein Coding	1
151	BIRC5	Baculoviral IAP Repeat Containing 5	Protein Coding	1
152	TANK	TRAF Family Member Associated NFKB Activator	Protein Coding	1
153	TAX1BP1	Tax1 Binding Protein 1	Protein Coding	1
154	TFEB	Transcription Factor EB	Protein Coding	1
155	TIA1	TIA1 Cytotoxic Granule Associated RNA Binding Protein	Protein Coding	1
156	TIAL1	TIA1 Cytotoxic Granule Associated RNA Binding Protein Like 1	Protein Coding	1
157	TIGAR	TP53 Induced Glycolysis Regulatory Phosphatase	Protein Coding	1
158	TMPO	Thymopoietin	Protein Coding	1
159	TNFRSF1B	TNF Receptor Superfamily Member 1B	Protein Coding	1
160	TNFAIP3	TNF Alpha Induced Protein 3	Protein Coding	1
161	TNFRSF11A	TNF Receptor Superfamily Member 11a	Protein Coding	1
162	TNFRSF25	TNF Receptor Superfamily Member 25	Protein Coding	1
163	TNFRSF6B	TNF Receptor Superfamily Member 6b	Protein Coding	1
164	TNFSF11	TNF Superfamily Member 11	Protein Coding	1
165	TNFSF12	TNF Superfamily Member 12	Protein Coding	1
166	TRAF1	TNF Receptor Associated Factor 1	Protein Coding	1
167	TRAF3	TNF Receptor Associated Factor 3	Protein Coding	1
168	TRAF4	TNF Receptor Associated Factor 4	Protein Coding	1
169	TRAF5	TNF Receptor Associated Factor 5	Protein Coding	1
170	TRAF6	TNF Receptor Associated Factor 6	Protein Coding	1
171	TNFSF10	TNF Superfamily Member 10	Protein Coding	1
172	TNFRSF10A	TNF Receptor Superfamily Member 10a	Protein Coding	1
173	TNFRSF10B	TNF Receptor Superfamily Member 10b	Protein Coding	1
174	TNFRSF10C	TNF Receptor Superfamily Member 10c	Protein Coding	1
175	TNFRSF10D	TNF Receptor Superfamily Member 10d	Protein Coding	1
176	TNFRSF12A	TNF Receptor Superfamily Member 12A	Protein Coding	1
177	TXN	Thioredoxin	Protein Coding	1
178	UNC5B	Unc-5 Netrin Receptor B	Protein Coding	1
179	USP10	Ubiquitin Specific Peptidase 10	Protein Coding	1
180	VDAC1	Voltage Dependent Anion Channel 1	Protein Coding	1
181	WWOX	WW Domain Containing Oxidoreductase	Protein Coding	1
182	XIAP	X-Linked Inhibitor Of Apoptosis	Protein Coding	1
183	YY1	YY1 Transcription Factor	Protein Coding	1
184	PRF1	Perforin 1	Protein Coding	1
185	PPP2CB	Protein Phosphatase 2 Catalytic Subunit Beta	Protein Coding	1

Disorders associated with Apoptosis and Autophagy SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Bacterial infectious disease	Direct
2	Viral infectious disease	Direct
3	Influenza	Direct
4	Autoimmune lymphoproliferative syndrome	Enrichment	FAS, FASLG	4.91
5	Lung cancer	Enrichment	CASP8, FAS, FASLG	4.88
6	Lymphoma, mucosa-associated lymphoid type	Enrichment	BCL10, BIRC3, MALT1	4.63
7	Thrombocytopenia 4	Enrichment	CYCS	3.53
8	Caspase 8 deficiency	Enrichment	CASP8	3.43
9	Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction	Enrichment	FADD	3.43
10	Autoinflammation with episodic fever and lymphadenopathy	Enrichment	RIPK1	3.43
11	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	BCL2, MYC	3.27
12	T-cell acute lymphoblastic leukemia	Enrichment	BAX, BCL10	3.27
13	Spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy	Enrichment	AIFM1	3.23
14	Charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxia	Enrichment	AIFM1	3.23
15	Combined oxidative phosphorylation deficiency 6	Enrichment	AIFM1	3.23
16	Charcot-marie-tooth disease x-linked recessive 4	Enrichment	AIFM1	3.23
17	Immunodeficiency 57 with autoinflammation	Enrichment	RIPK1	3.13
18	Oculootodental syndrome	Enrichment	FADD	3.13
19	Deafness, x-linked 5, with peripheral neuropathy	Enrichment	AIFM1	3.05
20	X-linked deafness 5	Enrichment	AIFM1	3.05
21	Combined oxidative phosphorylation deficiency	Enrichment	AIFM1	3.05
22	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	PTPN11, YWHAZ	2.97
23	Periodic fever, familial, autosomal dominant	Enrichment	TNFRSF1A	2.96
24	Multiple sclerosis 5	Enrichment	TNFRSF1A	2.96
25	Tnf receptor-associated periodic fever syndrome	Enrichment	TNFRSF1A	2.96
26	Autosomal thrombocytopenia with normal platelets	Enrichment	CYCS	2.83
27	Hemophagocytic lymphohistiocytosis, familial, 2	Enrichment	PRF1	2.83
28	Parkinson disease 13, autosomal dominant	Enrichment	HTRA2	2.83
29	Fatal post-viral neurodegenerative disorder	Enrichment	PRF1	2.83
30	Follicular lymphoma	Enrichment	BCL10, BCL2	2.75
31	Inflammatory bowel disease 25, autosomal recessive	Enrichment	RIPK1	2.66
32	Il10-related early-onset inflammatory bowel disease	Enrichment	RIPK1	2.66
33	Immunodeficiency 127	Enrichment	TNF	2.66
34	Intermittent hydrarthrosis	Enrichment	TNFRSF1A	2.66
35	Deafness, autosomal dominant 64	Enrichment	DIABLO	2.53
36	Intravascular large b-cell lymphoma	Enrichment	BCL2	2.53
37	Adult hepatocellular carcinoma	Enrichment	CASP8	2.48
38	Psoriatic arthritis	Enrichment	TNF	2.48
39	Migraine without aura	Enrichment	TNF	2.48
40	Immune deficiency disease	Enrichment	RIPK1	2.39
41	Cerebral malaria	Enrichment	TNF	2.35
42	Immunodeficiency 98 with autoinflammation, x-linked	Enrichment	FASLG	2.35
43	Vogt-koyanagi-harada disease	Enrichment	FAS	2.35
44	Vascular dementia	Enrichment	TNF	2.26
45	3-methylglutaconic aciduria, type viii	Enrichment	HTRA2	2.23
46	Leukodystrophy	Enrichment	AIFM1	2.23
47	Ear malformation	Enrichment	AIFM1	2.15
48	Hemophagocytic lymphohistiocytosis, familial, 1	Enrichment	PRF1	2.13
49	Idiopathic aplastic anemia	Enrichment	PRF1	2.13
50	Auditory neuropathy	Enrichment	AIFM1	2.12
51	Hepatocellular carcinoma	Enrichment	CASP8	2.09
52	Specific learning disability	Enrichment	PTPN11, YWHAG	2.04
53	Severe combined immunodeficiency	Enrichment	IKBKB, MALT1, STK4	2.01
54	Charge syndrome	Enrichment	TNFRSF1A	2.00
55	Epicanthus	Enrichment	PTPN11, TFAP2A	1.96
56	Lymphoma, non-hodgkin, familial	Enrichment	PRF1	1.93
57	Asthma	Enrichment	TNF	1.92
58	Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical	Enrichment	LMNB1	1.87
59	Keratolytic winter erythema	Enrichment	CTSB	1.87
60	Metachondromatosis	Enrichment	PTPN11	1.87
61	Lymphoproliferative syndrome, x-linked, 2	Enrichment	XIAP	1.87
62	Osteopetrosis, autosomal recessive 7	Enrichment	TNFRSF11A	1.87
63	Char syndrome	Enrichment	TFAP2B	1.87
64	Vitiligo-associated multiple autoimmune disease susceptibility 1	Enrichment	NLRP1	1.87
65	Leopard syndrome 1	Enrichment	PTPN11	1.87
66	Developmental and epileptic encephalopathy 5	Enrichment	SPTAN1	1.87
67	Ceroid lipofuscinosis, neuronal, 10	Enrichment	CTSD	1.87
68	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	Enrichment	MFF	1.87
69	Myoclonus, familial, 1	Enrichment	NOL3	1.87
70	Whim syndrome 1	Enrichment	CXCR4	1.87
71	Ichthyosis, congenital, autosomal recessive 12	Enrichment	CASP14	1.87
72	Immunodeficiency 15b	Enrichment	IKBKB	1.87
73	Spinocerebellar ataxia, autosomal recessive 15	Enrichment	RUBCN	1.87
74	Anencephaly 2	Enrichment	NUAK2	1.87
75	Immunodeficiency 15a	Enrichment	IKBKB	1.87
76	Immunodeficiency with hyper-igm, type 1	Enrichment	CD40LG	1.87
77	Hyperemesis gravidarum	Enrichment	GDF15	1.87
78	Immunodeficiency 132a	Enrichment	TRAF3	1.87
79	Immunodeficiency 110 with lymphoproliferation	Enrichment	STK4	1.87
80	Deafness, dystonia, and cerebral hypomyelination	Enrichment	BCAP31	1.87
81	Respiratory papillomatosis, juvenile recurrent, congenital	Enrichment	NLRP1	1.87
82	Immunodeficiency 132b	Enrichment	TRAF3	1.87
83	Adult onset demyelinating leukodystrophy	Enrichment	LMNB1	1.87
84	Epilepsy, progressive myoclonic, 9	Enrichment	LMNB2	1.87
85	Lipodystrophy, partial, acquired	Enrichment	LMNB2	1.87
86	Dominant hereditary optic atrophy	Enrichment	OPA1	1.87
87	Polydactyly-macrocephaly syndrome	Enrichment	MAX	1.87
88	Palmoplantar carcinoma, multiple self-healing	Enrichment	NLRP1	1.87
89	Immunodeficiency 12	Enrichment	MALT1	1.87
90	Microcephaly 26, primary, autosomal dominant	Enrichment	LMNB1	1.87
91	Developmental and epileptic encephalopathy 56	Enrichment	YWHAG	1.87
92	Patent ductus arteriosus 2	Enrichment	TFAP2B	1.87
93	Atypical werner syndrome	Enrichment	LMNA	1.87
94	Autoinflammation with arthritis and dyskeratosis	Enrichment	NLRP1	1.87
95	Mitochondrial complex iv deficiency, nuclear type 16	Enrichment	COX4I1	1.87
96	Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia	Enrichment	TIA1	1.87
97	Microcephaly 27, primary, autosomal dominant	Enrichment	LMNB2	1.87
98	Sezary's disease	Enrichment	BCL10	1.87
99	Microcephaly 29, primary, autosomal recessive	Enrichment	PDCD6IP	1.87
100	Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia	Enrichment	SPTAN1	1.87
101	Developmental delay with or without epilepsy	Enrichment	SPTAN1	1.87
102	Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly	Enrichment	CASP2	1.87
103	Familial behcet-like autoinflammatory syndrome	Enrichment	TNFAIP3	1.87
104	Mandibuloacral dysplasia	Enrichment	LMNA	1.87
105	Atrioventricular block	Enrichment	LMNA	1.87
106	Neuronopathy, distal hereditary motor, autosomal dominant 11	Enrichment	SPTAN1	1.87
107	Cd40 ligand deficiency	Enrichment	CD40LG	1.87
108	Esophagus squamous cell carcinoma	Enrichment	WWOX	1.87
109	Lmna-related cardiocutaneous progeria syndrome	Enrichment	LMNA	1.87
110	Autosomal semi-dominant severe lipodystrophic laminopathy	Enrichment	LMNA	1.87
111	Common variable immunodeficiency phenotype due to tweak deficiency	Enrichment	TNFSF12	1.87
112	Mucosa-associated lymphoma	Enrichment	BCL10	1.87
113	Distal 17p13.3 microdeletion syndrome	Enrichment	YWHAE	1.87
114	Autosomal recessive axonal hereditary motor and sensory neuropathy	Enrichment	LMNA	1.87
115	Malignant astrocytoma	Enrichment	PTPN11	1.87
116	Laminopathy	Enrichment	LMNA	1.87
117	Sensorineural hearing loss	Enrichment	AIFM1	1.85
118	Thrombocytopenia	Enrichment	CYCS	1.85
119	Alzheimer's disease	Enrichment	TNF	1.85
120	Aplastic anemia	Enrichment	PRF1	1.83
121	Multiple sclerosis	Enrichment	TNFRSF1A	1.81
122	Early-onset parkinson's disease	Enrichment	HTRA2	1.76
123	Hereditary breast ovarian cancer syndrome	Enrichment	RIPK1	1.70
124	Behcet syndrome	Enrichment	TNFRSF1A	1.68
125	Neuromuscular disease	Enrichment	LMNA, SPTAN1	1.62
126	Malaria	Enrichment	TNF	1.60
127	Autoinflammatory disease	Enrichment	TNFRSF1A	1.58
128	Burkitt lymphoma	Enrichment	MYC	1.57
129	Optic atrophy 1	Enrichment	OPA1	1.57
130	Familial expansile osteolysis	Enrichment	TNFRSF11A	1.57
131	Behr syndrome	Enrichment	OPA1	1.57
132	Paget disease of bone 5, juvenile-onset	Enrichment	TNFRSF11A	1.57
133	Mandibuloacral dysplasia with type a lipodystrophy	Enrichment	LMNA	1.57
134	Intellectual developmental disorder, x-linked, syndromic, raymond type	Enrichment	SPTAN1	1.57
135	Lipomatosis, multiple symmetric, with or without axonal peripheral neuropathy	Enrichment	LMNB2	1.57
136	Welander distal myopathy	Enrichment	TIA1	1.57
137	Heart-hand syndrome, slovenian type	Enrichment	LMNA	1.57
138	Charcot-marie-tooth disease, axonal, type 2b1	Enrichment	LMNA	1.57
139	Ovarian dysgenesis 3	Enrichment	MLX	1.57
140	Developmental and epileptic encephalopathy 28	Enrichment	WWOX	1.57
141	Cardiomyopathy, dilated, with hypergonadotropic hypogonadism	Enrichment	LMNA	1.57
142	Mitochondrial dna depletion syndrome 14	Enrichment	OPA1	1.57
143	Immunodeficiency 37	Enrichment	BCL10	1.57
144	Optic atrophy 8	Enrichment	OPA1	1.57
145	Autoinflammatory syndrome, familial, behcet-like 1	Enrichment	TNFAIP3	1.57
146	Osteopetrosis, autosomal recessive 2	Enrichment	TNFSF11	1.57
147	Spinocerebellar ataxia, autosomal recessive 12	Enrichment	WWOX	1.57
148	Abdominal obesity-metabolic syndrome 3	Enrichment	DYRK1B	1.57
149	Oocyte/zygote/embryo maturation arrest 7	Enrichment	PANX1	1.57
150	Charcot-marie-tooth disease, demyelinating, type 4d	Enrichment	NDRG1	1.57
151	Cardiomyopathy, dilated, 1d	Enrichment	LMNA	1.57
152	Restrictive dermopathy 2	Enrichment	LMNA	1.57
153	Gabriele-de vries syndrome	Enrichment	YY1	1.57
154	Emery-dreifuss muscular dystrophy 3, autosomal recessive	Enrichment	LMNA	1.57
155	Werner syndrome	Enrichment	PTPN11	1.57
156	Lipodystrophy, familial partial, type 1	Enrichment	LMNA	1.57
157	Developmental and epileptic encephalopathy 78	Enrichment	YY1	1.57
158	Megalencephaly-polydactyly syndrome	Enrichment	MYCN	1.57
159	Autosomal dominant primary microcephaly	Enrichment	LMNB1	1.57
160	Insulinoma	Enrichment	YY1	1.57
161	Esotropia	Enrichment	TFAP2A	1.57
162	Portal hypertension, noncirrhotic, 2	Enrichment	GIMAP5	1.57
163	Charcot-marie-tooth disease type 4d	Enrichment	NDRG1	1.57
164	Familial partial lipodystrophy	Enrichment	LMNA	1.57
165	Cadds	Enrichment	BCAP31	1.57
166	Familial retinoblastoma	Enrichment	MYCN	1.57
167	Charcot-marie-tooth disease type 2b1	Enrichment	LMNA	1.57
168	Lens subluxation	Enrichment	TFAP2A	1.57
169	Familial patent arterial duct	Enrichment	TFAP2B	1.57
170	Breast cancer	Enrichment	CASP8	1.56
171	Retinoblastoma	Enrichment	MYCN	1.40
172	Mesothelioma, malignant	Enrichment	BCL10	1.40
173	Dysosteosclerosis	Enrichment	TNFRSF11A	1.40
174	Takayasu arteritis	Enrichment	MLX	1.40
175	Mycosis fungoides	Enrichment	TNFRSF1B	1.40
176	Restrictive dermopathy 1	Enrichment	LMNA	1.40
177	Glaucoma, normal tension	Enrichment	OPA1	1.40
178	Lipodystrophy, familial partial, type 2	Enrichment	LMNA	1.40
179	Miller-dieker lissencephaly syndrome	Enrichment	YWHAE	1.40
180	Muscular dystrophy, congenital, lmna-related	Enrichment	LMNA	1.40
181	Chromosome 17p13.3, centromeric, duplication syndrome	Enrichment	YWHAE	1.40
182	Short-rib thoracic dysplasia 11 with or without polydactyly	Enrichment	SPTAN1	1.40
183	Laryngeal squamous cell carcinoma	Enrichment	TNFRSF10B	1.40
184	Restrictive dermopathy	Enrichment	LMNA	1.40
185	Adult-onset myasthenia gravis	Enrichment	TNFRSF11A	1.40
186	Tricuspid valve insufficiency	Enrichment	PTPN11	1.40
187	Testicular cancer	Enrichment	BCL10	1.40
188	Autosomal dominant optic atrophy, classic form	Enrichment	OPA1	1.40
189	Saczary syndrome	Enrichment	TNFRSF1B	1.40
190	Systemic lupus erythematosus	Enrichment	TNF	1.37
191	Branchiooculofacial syndrome	Enrichment	TFAP2A	1.28
192	Hutchinson-gilford progeria syndrome	Enrichment	LMNA	1.28
193	Emery-dreifuss muscular dystrophy 1, x-linked	Enrichment	LMNA	1.28
194	Microtia-anotia	Enrichment	LMNA	1.28
195	Paget disease of bone 2, early-onset	Enrichment	TNFRSF11A	1.28
196	Spinocerebellar ataxia 15	Enrichment	RUBCN	1.28
197	Lymphoproliferative syndrome 2	Enrichment	XIAP	1.28
198	Emery-dreifuss muscular dystrophy	Enrichment	LMNA	1.28
199	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1	Enrichment	PTRH2	1.28
200	Portal hypertension	Enrichment	GIMAP5	1.28
201	Noonan syndrome with multiple lentigines	Enrichment	PTPN11	1.28
202	Charcot-marie-tooth hereditary neuropathy	Enrichment	SPTAN1	1.28
203	Autosomal recessive osteopetrosis	Enrichment	TNFSF11	1.28
204	Paget's disease of bone 2	Enrichment	TNFRSF11A	1.28
205	Sick sinus syndrome	Enrichment	LMNA	1.28
206	Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant	Enrichment	TRAF6	1.18
207	Feingold syndrome 1	Enrichment	MYCN	1.18
208	3-methylglutaconic aciduria, type iii	Enrichment	OPA1	1.18
209	Amblyopia	Enrichment	TFAP2A	1.18
210	Lymphoma	Enrichment	PTPN11	1.18
211	Autosomal recessive limb-girdle muscular dystrophy type 2b	Enrichment	LMNA	1.18
212	Histiocytoid hemangioma	Enrichment	LMNA	1.18
213	Female infertility due to oocyte meiotic arrest	Enrichment	PANX1	1.18
214	Herpes simplex virus encephalitis	Enrichment	TRAF3	1.18
215	Endometrial stromal sarcoma	Enrichment	YWHAE	1.18
216	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	DIABLO	1.13
217	Branchiootorenal syndrome 1	Enrichment	TFAP2A	1.11
218	Emery-dreifuss muscular dystrophy 2, autosomal dominant	Enrichment	LMNA	1.11
219	Testicular germ cell tumor	Enrichment	BCL10	1.11
220	Mitochondrial dna depletion syndrome 1	Enrichment	TYMP	1.11
221	Spinocerebellar ataxia, autosomal recessive 16	Enrichment	RUBCN	1.11
222	Intestinal pseudo-obstruction	Enrichment	TFAP2B	1.11
223	Patent ductus arteriosus	Enrichment	PTPN11	1.11
224	Kidney clear cell sarcoma	Enrichment	YWHAE	1.11
225	Esophageal cancer	Enrichment	WWOX	1.04
226	Bethlem myopathy 1a	Enrichment	LMNA	1.04
227	Squamous cell carcinoma, head and neck	Enrichment	TNFRSF10B	1.04
228	Noonan syndrome 3	Enrichment	PTPN11	1.04
229	Renal cell carcinoma with mit translocations	Enrichment	TFEB	1.04
230	Branchiootorenal syndrome	Enrichment	TFAP2A	1.04
231	Common variable immunodeficiency	Enrichment	CD40LG	1.04
232	Focal epilepsy	Enrichment	SPTAN1	1.04
233	Colorectal cancer	Enrichment	BAX	1.04
234	Mitochondrial dna depletion syndrome 4b	Enrichment	TYMP	0.99
235	Congenital muscular dystrophy	Enrichment	LMNA	0.99
236	Neuroblastoma	Enrichment	MYCN	0.99
237	Myocarditis	Enrichment	LMNA	0.99
238	Charcot-marie-tooth disease	Enrichment	LMNA, NDRG1	0.98
239	Benign epilepsy with centrotemporal spikes	Enrichment	SPTAN1, WWOX	0.98
240	Centralopathic epilepsy	Enrichment	SPTAN1, WWOX	0.94
241	Arrhythmogenic right ventricular dysplasia, familial, 9	Enrichment	LMNA	0.94
242	Autosomal dominant cerebellar ataxia	Enrichment	OPA1	0.94
243	Mitochondrial neurogastrointestinal encephalomyopathy	Enrichment	TYMP	0.94
244	West syndrome	Enrichment	SPTAN1, WWOX	0.93
245	Cat eye syndrome	Enrichment	TFAP2A	0.90
246	Mitochondrial encephalomyopathy	Enrichment	MFF	0.90
247	Pectus excavatum	Enrichment	PTPN11	0.86
248	Combined immunodeficiency	Enrichment	MALT1	0.86
249	Combined t cell and b cell immunodeficiency	Enrichment	MALT1	0.86
250	Combined t and b cell immunodeficiency	Enrichment	MALT1	0.86
251	Cardiac conduction defect	Enrichment	LMNA	0.82
252	Muscular dystrophy, limb-girdle, autosomal recessive 2	Enrichment	LMNA	0.82
253	Juvenile myelomonocytic leukemia	Enrichment	PTPN11	0.82
254	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	LMNA	0.82
255	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	LMNA	0.82
256	Congenital long qt syndrome	Enrichment	PTPN11	0.82
257	Familial isolated dilated cardiomyopathy	Enrichment	LMNA, TMPO	0.80
258	Pheochromocytoma	Enrichment	MAX	0.76
259	Cox deficiency, benign infantile mitochondrial myopathy	Enrichment	COX4I1	0.76
260	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	LMNA	0.76
261	46,xy partial gonadal dysgenesis	Enrichment	WWOX	0.76
262	Undetermined early-onset epileptic encephalopathy	Enrichment	WWOX, YWHAG	0.76
263	Neuronal ceroid lipofuscinosis	Enrichment	CTSD	0.73
264	Noonan syndrome and noonan-related syndrome	Enrichment	PTPN11	0.73
265	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	LMNA	0.71
266	Cardiomyopathy, dilated, 1e	Enrichment	LMNA	0.69
267	Charcot-marie-tooth disease type 4	Enrichment	NDRG1	0.66
268	Patent foramen ovale	Enrichment	PTPN11	0.66
269	Neuropathy, hereditary motor and sensory, okinawa type	Enrichment	LMNA	0.64
270	Maturity-onset diabetes of the young	Enrichment	MLKL	0.62
271	Craniosynostosis	Enrichment	TFAP2B	0.62
272	Cardiomyopathy, dilated, 1a	Enrichment	LMNA	0.60
273	Centronuclear myopathy	Enrichment	OPA1	0.60
274	Hereditary paraganglioma-pheochromocytoma syndromes	Enrichment	MAX	0.60
275	Mitochondrial complex iv deficiency, nuclear type 1	Enrichment	COX4I1	0.59
276	Microphthalmia	Enrichment	TFAP2A	0.59
277	Multisystem inflammatory syndrome in children	Enrichment	TRAF3	0.59
278	Noonan syndrome 1	Enrichment	PTPN11	0.57
279	Precursor t-cell acute lymphoblastic leukemia	Enrichment	MYC	0.57
280	Cardiomyopathy, familial hypertrophic, 1	Enrichment	LMNA	0.56
281	Scoliosis	Enrichment	PTPN11	0.56
282	Muscular dystrophy	Enrichment	LMNA	0.56
283	Developmental and epileptic encephalopathy 1	Enrichment	WWOX	0.54
284	Jeune thoracic dystrophy	Enrichment	SPTAN1	0.54
285	Hydrops fetalis, nonimmune	Enrichment	PTPN11	0.53
286	Brugada syndrome	Enrichment	LMNA	0.53
287	Rasopathy	Enrichment	PTPN11	0.53
288	Strabismus	Enrichment	PTPN11	0.51
289	Asphyxiating thoracic dystrophy	Enrichment	SPTAN1	0.50
290	Long qt syndrome 1	Enrichment	PTPN11	0.48
291	Stargardt disease 1	Enrichment	OPA1	0.48
292	Long qt syndrome	Enrichment	LMNA	0.46
293	Non-immune hydrops fetalis	Enrichment	PTPN11	0.46
294	Primary autosomal recessive microcephaly	Enrichment	PDCD6IP	0.45
295	Peripheral nervous system disease	Enrichment	LMNA	0.45
296	Neuropathy	Enrichment	LMNA	0.45
297	Short-rib thoracic dysplasia 1 with or without polydactyly	Enrichment	SPTAN1	0.44
298	Left ventricular noncompaction	Enrichment	LMNA	0.42
299	Developmental and epileptic encephalopathy	Enrichment	SPTAN1	0.41
300	Epilepsy	Enrichment	WWOX	0.38
301	Hereditary spastic paraplegia	Enrichment	SPTAN1	0.36
302	Hypertrophic cardiomyopathy	Enrichment	PTPN11	0.35
303	Optic atrophy plus syndrome	Enrichment	OPA1	0.35
304	Autosomal dominant non-syndromic intellectual disability	Enrichment	YWHAZ	0.31
305	Microcephaly	Enrichment	PTPN11, YWHAG	0.30
306	Hypertelorism	Enrichment	TFAP2A	0.29
307	Spastic ataxia	Enrichment	SPTAN1	0.29
308	Myeloma, multiple	Enrichment	TRAF5	0.27
309	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	PTPN11	0.27
310	Inherited cancer-predisposing syndrome	Enrichment	MAX, PTPN11	0.27
311	Schizophrenia	Enrichment	BIRC6	0.26
312	Dilated cardiomyopathy	Enrichment	LMNA	0.18
313	Mitochondrial disease	Enrichment	OPA1	0.16
314	Congenital nervous system abnormality	Enrichment	WWOX	0.12
315	Nervous system disease	Enrichment	WWOX	0.12
316	Autism spectrum disorder	Enrichment	PTPN11	0.11
317	Hereditary retinal dystrophy	Enrichment	OPA1	0.01
318	Fundus dystrophy	Enrichment	OPA1	0.01

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

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