Signaling by NOTCH3

No Pathway Network information available for Signaling by NOTCH3

Pathways in the Signaling by NOTCH3 SuperPath

#	Name	Source	Genes
1	Signaling by NOTCH3	Reactome	ADAM10 APH1A APH1B CREBBP DLGAP5 DLL1 DLL4 EGF EGFR EP300 FABP7 HES1 HES5 HEY1 HEY2 HEYL IKZF1 JAG1 JAG2 KAT2A KAT2B MAML1 MAML2 MAML3 MAMLD1 MIB1 MIB2 NCSTN NEURL1 NEURL1B NOTCH1 NOTCH3 PBX1 PLXND1 PSEN1 PSEN2 PSENEN PTCRA RBPJ RPS27A SNW1 STAT1 TACC3 UBA52 UBB UBC WWC1 WWP2 YBX1 (see all 49) (see less)
2	NOTCH3 Intracellular Domain Regulates Transcription	Reactome	CREBBP DLGAP5 EP300 FABP7 HES1 HES5 HEY1 HEY2 HEYL IKZF1 KAT2A KAT2B MAML1 MAML2 MAML3 MAMLD1 NOTCH1 NOTCH3 PBX1 PLXND1 PTCRA RBPJ SNW1 STAT1 WWC1 (see all 25) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	MAMLD1	Mastermind Like Domain Containing 1	Protein Coding	2
2	IKZF1	IKAROS Family Zinc Finger 1	Protein Coding	2
3	CREBBP	CREB Binding Lysine Acetyltransferase	Protein Coding	2
4	PTCRA	Pre T Cell Antigen Receptor Alpha	Protein Coding	2
5	EP300	EP300 Lysine Acetyltransferase	Protein Coding	2
6	FABP7	Fatty Acid Binding Protein 7	Protein Coding	2
7	SNW1	SNW Domain Containing 1	Protein Coding	2
8	PLXND1	Plexin D1	Protein Coding	2
9	WWC1	WW And C2 Domain Containing 1	Protein Coding	2
10	HEY1	Hes Related Family BHLH Transcription Factor With YRPW Motif 1	Protein Coding	2
11	HEY2	Hes Related Family BHLH Transcription Factor With YRPW Motif 2	Protein Coding	2
12	KAT2A	Lysine Acetyltransferase 2A	Protein Coding	2
13	HEYL	Hes Related Family BHLH Transcription Factor With YRPW Motif Like	Protein Coding	2
14	HES1	Hes Family BHLH Transcription Factor 1	Protein Coding	2
15	RBPJ	Recombination Signal Binding Protein For Immunoglobulin Kappa J Region	Protein Coding	2
16	HES5	Hes Family BHLH Transcription Factor 5	Protein Coding	2
17	NOTCH1	Notch Receptor 1	Protein Coding	2
18	NOTCH3	Notch Receptor 3	Protein Coding	2
19	PBX1	PBX Homeobox 1	Protein Coding	2
20	MAML3	Mastermind Like Transcriptional Coactivator 3	Protein Coding	2
21	STAT1	Signal Transducer And Activator Of Transcription 1	Protein Coding	2
22	MAML2	Mastermind Like Transcriptional Coactivator 2	Protein Coding	2
23	KAT2B	Lysine Acetyltransferase 2B	Protein Coding	2
24	DLGAP5	DLG Associated Protein 5	Protein Coding	2
25	MAML1	Mastermind Like Transcriptional Coactivator 1	Protein Coding	2
26	ADAM10	ADAM Metallopeptidase Domain 10	Protein Coding	1
27	TACC3	Transforming Acidic Coiled-Coil Containing Protein 3	Protein Coding	1
28	WWP2	WW Domain Containing E3 Ubiquitin Protein Ligase 2	Protein Coding	1
29	MIB2	MIB E3 Ubiquitin Protein Ligase 2	Protein Coding	1
30	JAG1	Jagged Canonical Notch Ligand 1	Protein Coding	1
31	EGF	Epidermal Growth Factor	Protein Coding	1
32	EGFR	Epidermal Growth Factor Receptor	Protein Coding	1
33	NCSTN	Nicastrin	Protein Coding	1
34	DLL1	Delta Like Canonical Notch Ligand 1	Protein Coding	1
35	JAG2	Jagged Canonical Notch Ligand 2	Protein Coding	1
36	YBX1	Y-Box Binding Protein 1	Protein Coding	1
37	APH1A	Aph-1A Gamma-Secretase Subunit	Protein Coding	1
38	NEURL1B	Neuralized E3 Ubiquitin Protein Ligase 1B	Protein Coding	1
39	DLL4	Delta Like Canonical Notch Ligand 4	Protein Coding	1
40	PSENEN	Presenilin Enhancer, Gamma-Secretase Subunit	Protein Coding	1
41	PSEN1	Presenilin 1	Protein Coding	1
42	PSEN2	Presenilin 2	Protein Coding	1
43	MIB1	MIB E3 Ubiquitin Protein Ligase 1	Protein Coding	1
44	RPS27A	Ribosomal Protein S27a	Protein Coding	1
45	UBA52	Ubiquitin A-52 Residue Ribosomal Protein Fusion Product 1	Protein Coding	1
46	UBB	Ubiquitin B	Protein Coding	1
47	UBC	Ubiquitin C	Protein Coding	1
48	APH1B	Aph-1B Gamma-Secretase Subunit	Protein Coding	1
49	NEURL1	Neuralized E3 Ubiquitin Protein Ligase 1	Protein Coding	1

Disorders associated with Signaling by NOTCH3 SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Adams-oliver syndrome	Enrichment	DLL4, NOTCH1, RBPJ	5.81
2	Alzheimer disease 4	Enrichment	PSEN1, PSEN2	4.42
3	Rubinstein-taybi syndrome 1	Enrichment	CREBBP, EP300	4.31
4	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	CREBBP, EP300	4.31
5	Tetralogy of fallot	Enrichment	HEY2, JAG1, NOTCH1	3.96
6	Early-onset autosomal dominant alzheimer disease	Enrichment	PSEN1, PSEN2	3.58
7	Rare genetic intellectual disability	Enrichment	CREBBP, EP300	3.47
8	Gliosarcoma	Enrichment	EGFR, TACC3	2.83
9	Giant cell glioblastoma	Enrichment	EGFR, TACC3	2.77
10	Memory quantitative trait locus	Enrichment	WWC1	2.73
11	Lateral meningocele syndrome	Enrichment	NOTCH3	2.73
12	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	Enrichment	PBX1	2.73
13	Hypospadias 2, x-linked	Enrichment	MAMLD1	2.73
14	Immunodeficiency 31a	Enrichment	STAT1	2.73
15	Myofibromatosis, infantile, 2	Enrichment	NOTCH3	2.73
16	Immunodeficiency 31b	Enrichment	STAT1	2.73
17	Immunodeficiency, common variable, 13	Enrichment	IKZF1	2.73
18	Menke-hennekam syndrome 1	Enrichment	CREBBP	2.73
19	Combined immunodeficiency due to dimerization defective ikaros mutation	Enrichment	IKZF1	2.73
20	Rubinstein-taybi syndrome due to 16p13.3 microdeletion	Enrichment	CREBBP	2.73
21	Immunodeficiency 126	Enrichment	PTCRA	2.73
22	Transient cerebral ischemia	Enrichment	NOTCH3	2.73
23	Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1	Enrichment	NOTCH3	2.73
24	Early-onset combined immunodeficiency with low ig due to dominant negative ikaros mutation	Enrichment	IKZF1	2.73
25	Menke-hennekam syndrome	Enrichment	CREBBP	2.73
26	46,xy ovotesticular disorder of sex development	Enrichment	MAMLD1	2.73
27	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	HEY2, NOTCH1	2.53
28	Hypomagnesemia 4, renal	Enrichment	EGF	2.44
29	Acne inversa, familial, 1	Enrichment	NCSTN	2.44
30	Charcot-marie-tooth disease, axonal, type 2hh	Enrichment	JAG1	2.44
31	Adams-oliver syndrome 6	Enrichment	DLL4	2.44
32	Cardiomyopathy, dilated, 1v	Enrichment	PSEN2	2.44
33	Alzheimer disease 18	Enrichment	ADAM10	2.44
34	Cardiomyopathy, dilated, 1u	Enrichment	PSEN1	2.44
35	Reticulate acropigmentation of kitamura	Enrichment	ADAM10	2.44
36	Acne inversa, familial, 2, with or without dowling-degos disease	Enrichment	PSENEN	2.44
37	Acne inversa, familial, 3	Enrichment	PSEN1	2.44
38	Muscular dystrophy, limb-girdle, autosomal recessive 27	Enrichment	JAG2	2.44
39	Deafness, congenital heart defects, and posterior embryotoxon	Enrichment	JAG1	2.44
40	Pash syndrome	Enrichment	NCSTN	2.44
41	Huntington's disease-like	Enrichment	PSEN2	2.44
42	Egf-related primary hypomagnesemia with intellectual disability	Enrichment	EGF	2.44
43	Thumb deformity	Enrichment	CREBBP	2.43
44	Adams-oliver syndrome 5	Enrichment	NOTCH1	2.43
45	Adams-oliver syndrome 3	Enrichment	RBPJ	2.43
46	Immunodeficiency 31c	Enrichment	STAT1	2.43
47	Diamond-blackfan anemia-like	Enrichment	IKZF1	2.43
48	Menke-hennekam syndrome 2	Enrichment	EP300	2.43
49	Congenital heart defects, multiple types, 9	Enrichment	PLXND1	2.43
50	Infantile myofibromatosis	Enrichment	NOTCH3	2.43
51	Stevens-johnson syndrome	Enrichment	IKZF1	2.43
52	Acute myeloid leukemia with kat6a-crebbp fusion	Enrichment	CREBBP	2.43
53	Lipodystrophy, familial partial, type 1	Enrichment	NOTCH3	2.43
54	Depressive disorder	Enrichment	NOTCH3	2.43
55	B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)	Enrichment	PBX1	2.43
56	Posterior hypospadias	Enrichment	MAMLD1	2.43
57	X-linked myotubular myopathy-abnormal genitalia syndrome	Enrichment	MAMLD1	2.43
58	Renal hypoplasia, bilateral	Enrichment	PBX1	2.43
59	Tethered spinal cord syndrome	Enrichment	CREBBP	2.26
60	Intraocular pressure quantitative trait locus	Enrichment	CREBBP	2.26
61	Migraine without aura	Enrichment	NOTCH3	2.26
62	Keratoacanthoma	Enrichment	NOTCH1	2.26
63	Left ventricular noncompaction	Enrichment	MIB1, MIB2	2.15
64	Alzheimer disease 3	Enrichment	PSEN1	2.14
65	Pick disease of brain	Enrichment	PSEN1	2.14
66	Spondyloepiphyseal dysplasia, nishimura type	Enrichment	WWP2	2.14
67	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	Enrichment	DLL1	2.14
68	Left ventricular noncompaction 7	Enrichment	MIB1	2.14
69	Submucosal cleft palate	Enrichment	UBB	2.14
70	Cleft hard palate	Enrichment	UBB	2.14
71	Cerebrovascular disease	Enrichment	NOTCH3	2.13
72	Moebius syndrome	Enrichment	PLXND1	2.04
73	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	Enrichment	NOTCH3	2.04
74	Rubinstein-taybi syndrome 2	Enrichment	EP300	2.04
75	Vascular dementia	Enrichment	NOTCH3	2.04
76	Persistent truncus arteriosus	Enrichment	PLXND1	2.04
77	Alagille syndrome 1	Enrichment	JAG1	1.97
78	Uvula, bifid	Enrichment	UBB	1.97
79	Cleft soft palate	Enrichment	UBB	1.97
80	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	1.97
81	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	1.97
82	Chronic mucocutaneous candidiasis	Enrichment	STAT1	1.96
83	Hypertrichosis	Enrichment	CREBBP	1.96
84	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	IKZF1	1.89
85	Dowling-degos disease 1	Enrichment	ADAM10	1.84
86	Dowling-degos disease	Enrichment	PSENEN	1.84
87	Middle aortic syndrome	Enrichment	JAG1	1.84
88	Hypoplastic left heart syndrome	Enrichment	NOTCH1	1.83
89	Familial isolated dilated cardiomyopathy	Enrichment	PSEN1, PSEN2	1.81
90	Charge syndrome	Enrichment	EP300	1.78
91	Aplasia cutis congenita	Enrichment	DLL4	1.75
92	Dementia	Enrichment	PSEN1	1.75
93	Stroke, ischemic	Enrichment	NOTCH3	1.74
94	Migraine with or without aura 1	Enrichment	NOTCH3	1.70
95	Immune deficiency disease	Enrichment	IKZF1	1.70
96	Leukemia, acute lymphoblastic	Enrichment	IKZF1	1.70
97	Cowden syndrome 1	Enrichment	EGFR	1.67
98	Telangiectasia, hereditary hemorrhagic, type 1	Enrichment	PSEN1	1.67
99	Lung squamous cell carcinoma	Enrichment	EGFR	1.67
100	Aortic valve disease 1	Enrichment	NOTCH1	1.63
101	Squamous cell carcinoma, head and neck	Enrichment	EGFR	1.60
102	Semantic dementia	Enrichment	PSEN1	1.60
103	Aortic aneurysm, familial thoracic 1	Enrichment	NOTCH1	1.59
104	Heart disease	Enrichment	CREBBP	1.59
105	Polydactyly, postaxial, type a1	Enrichment	EP300	1.56
106	Corpus callosum, agenesis of	Enrichment	CREBBP	1.56
107	Isolated corpus callosum agenesis	Enrichment	CREBBP	1.56
108	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	CREBBP	1.56
109	Adult hepatocellular carcinoma	Enrichment	EGF	1.49
110	Progressive non-fluent aphasia	Enrichment	PSEN1	1.49
111	Behavioral variant of frontotemporal dementia	Enrichment	PSEN1	1.49
112	Diffuse large b-cell lymphoma	Enrichment	CREBBP	1.46
113	Frontotemporal dementia 1	Enrichment	PSEN1	1.41
114	Lung non-small cell carcinoma	Enrichment	EGFR	1.41
115	Lip and oral cavity carcinoma	Enrichment	EGFR	1.37
116	Scoliosis	Enrichment	CREBBP	1.36
117	Alzheimer's disease	Enrichment	PSEN1	1.34
118	Auditory neuropathy	Enrichment	NOTCH3	1.33
119	Lung cancer susceptibility 3	Enrichment	EGFR	1.31
120	Septopreoptic holoprosencephaly	Enrichment	DLL1	1.28
121	Midline interhemispheric variant of holoprosencephaly	Enrichment	DLL1	1.28
122	Congenital nervous system abnormality	Enrichment	CREBBP, PSEN1	1.25
123	Nervous system disease	Enrichment	CREBBP, PSEN1	1.25
124	Microform holoprosencephaly	Enrichment	DLL1	1.25
125	Lobar holoprosencephaly	Enrichment	DLL1	1.25
126	Connective tissue disease	Enrichment	NOTCH1	1.24
127	Alzheimer disease, familial, 1	Enrichment	PSEN1	1.22
128	Alobar holoprosencephaly	Enrichment	DLL1	1.22
129	Heart, malformation of	Enrichment	JAG1	1.20
130	Semilobar holoprosencephaly	Enrichment	DLL1	1.20
131	Arteriovenous malformations of the brain	Enrichment	EGFR	1.18
132	Hepatoblastoma	Enrichment	JAG1	1.14
133	Type 2 diabetes mellitus	Enrichment	RBPJ	1.13
134	Skin disease	Enrichment	NCSTN	1.12
135	Myeloma, multiple	Enrichment	CREBBP	1.01
136	Bladder cancer	Enrichment	EGFR	1.00
137	Lung cancer	Enrichment	EGFR	0.96
138	Autism	Enrichment	CREBBP	0.90
139	Colorectal cancer	Enrichment	EP300	0.83
140	Autosomal dominant non-syndromic intellectual disability	Enrichment	DLL1	0.78
141	Autism spectrum disorder	Enrichment	PBX1	0.74
142	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	PSEN1	0.72
143	Microcephaly	Enrichment	EP300	0.69
144	Ovarian cancer	Enrichment	EGFR	0.51
145	Inherited cancer-predisposing syndrome	Enrichment	EGFR	0.42
146	Hereditary retinal dystrophy	Enrichment	JAG1	0.18
147	Fundus dystrophy	Enrichment	JAG1	0.18

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

Signaling by NOTCH3

Pathway Network for Signaling by NOTCH3

Member Pathways for Signaling by NOTCH3

Pathways in the Signaling by NOTCH3 SuperPath

Associated Genes for Signaling by NOTCH3

Associated Disorders for Signaling by NOTCH3

Disorders associated with Signaling by NOTCH3 SuperPath

STRING Interaction Network for Signaling by NOTCH3

Sources for Signaling by NOTCH3