Genetic causes of porto-sinusoidal vascular disease

No Pathway Network information available for Genetic causes of porto-sinusoidal vascular disease

Pathways in the Genetic causes of porto-sinusoidal vascular disease SuperPath

#	Name	Source	Genes
1	Genetic causes of porto-sinusoidal vascular disease	WikiPathways	ARHGAP31 BEND6 BTK C4orf54 CDC42 CHCHD2 COX4I2 CXXC5 CYBA CYBB CYBC1 DGUOK DLL4 DOCK6 EFL1 EIF6 EOGT ESR1 GTF2I IBTK KCNN3 MAPK1 MAPK3 NCF1 NCF2 NCF4 NFKB1 NOTCH1 NOTCH4 NOX3 RAC1 RBPJ SBDS SHCBP1 SP1 TLR8 TLR9 (see all 37) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	CDC42	Cell Division Cycle 42	Protein Coding	1
2	COX4I2	Cytochrome C Oxidase Subunit 4I2	Protein Coding	1
3	SHCBP1	SHC Binding And Spindle Associated 1	Protein Coding	1
4	EFL1	Elongation Factor Like GTPase 1	Protein Coding	1
5	BTK	Bruton Tyrosine Kinase	Protein Coding	1
6	SP1	Sp1 Transcription Factor	Protein Coding	1
7	NCF1	Neutrophil Cytosolic Factor 1	Protein Coding	1
8	RAC1	Rac Family Small GTPase 1	Protein Coding	1
9	DOCK6	Dedicator Of Cytokinesis 6	Protein Coding	1
10	ARHGAP31	Rho GTPase Activating Protein 31	Protein Coding	1
11	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	1
12	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	1
13	DLL4	Delta Like Canonical Notch Ligand 4	Protein Coding	1
14	TLR9	Toll Like Receptor 9	Protein Coding	1
15	TLR8	Toll Like Receptor 8	Protein Coding	1
16	CHCHD2	Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 2	Protein Coding	1
17	SBDS	SBDS Ribosome Maturation Factor	Protein Coding	1
18	NOX3	NADPH Oxidase 3	Protein Coding	1
19	NOTCH4	Notch Receptor 4	Protein Coding	1
20	NOTCH1	Notch Receptor 1	Protein Coding	1
21	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	1
22	NCF4	Neutrophil Cytosolic Factor 4	Protein Coding	1
23	NCF2	Neutrophil Cytosolic Factor 2	Protein Coding	1
24	KCNN3	Potassium Calcium-Activated Channel Subfamily N Member 3	Protein Coding	1
25	EIF6	Eukaryotic Translation Initiation Factor 6	Protein Coding	1
26	RBPJ	Recombination Signal Binding Protein For Immunoglobulin Kappa J Region	Protein Coding	1
27	GTF2I	General Transcription Factor IIi	Protein Coding	1
28	EOGT	EGF Domain Specific O-Linked N-Acetylglucosamine Transferase	Protein Coding	1
29	ESR1	Estrogen Receptor 1	Protein Coding	1
30	DGUOK	Deoxyguanosine Kinase	Protein Coding	1
31	CYBB	Cytochrome B-245 Beta Chain	Protein Coding	1
32	CYBA	Cytochrome B-245 Alpha Chain	Protein Coding	1
33	CYBC1	Cytochrome B-245 Chaperone 1	Protein Coding	1
34	CXXC5	CXXC Finger Protein 5	Protein Coding	1
35	C4orf54	Chromosome 4 Open Reading Frame 54	Protein Coding	1
36	IBTK	Inhibitor Of Bruton Tyrosine Kinase	Protein Coding	1
37	BEND6	BEN Domain Containing 6	Protein Coding	1

Disorders associated with Genetic causes of porto-sinusoidal vascular disease SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Chronic granulomatous disease	Enrichment	CYBA, CYBB, CYBC1, NCF1, NCF2, NCF4	10.62
2	Adams-oliver syndrome	Enrichment	ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ	10.55
3	Granulomatous disease, chronic, autosomal recessive, 2	Enrichment	NCF1, NCF2	4.66
4	Adams-oliver syndrome 1	Enrichment	ARHGAP31, DOCK6	4.66
5	Granulomatous disease, chronic, x-linked	Enrichment	CYBB, NCF1	4.36
6	Shwachman-diamond syndrome 1	Enrichment	EFL1, SBDS	3.97
7	Williams-beuren syndrome	Enrichment	GTF2I, NCF1	2.87
8	Granulomatous disease, chronic, autosomal recessive, 4	Enrichment	CYBA	2.56
9	Anodontia of permanent dentition	Enrichment	SBDS	2.56
10	Immunodeficiency 34	Enrichment	CYBB	2.56
11	Noonan syndrome 13	Enrichment	MAPK1	2.56
12	Granulomatous disease, chronic, autosomal recessive, 5	Enrichment	CYBC1	2.56
13	Adams-oliver syndrome 6	Enrichment	DLL4	2.56
14	Shwachman-diamond syndrome 2	Enrichment	EFL1	2.56
15	Isolated growth hormone deficiency type iii	Enrichment	BTK	2.56
16	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis	Enrichment	COX4I2	2.56
17	Parkinson disease 22, autosomal dominant	Enrichment	CHCHD2	2.56
18	Adams-oliver syndrome 4	Enrichment	EOGT	2.56
19	Takenouchi-kosaki syndrome	Enrichment	CDC42	2.56
20	Zimmermann-laband syndrome 3	Enrichment	KCNN3	2.56
21	Pancreatic insufficiency-anemia-hyperostosis syndrome	Enrichment	COX4I2	2.56
22	Nocarh syndrome	Enrichment	CDC42	2.56
23	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	2.56
24	Sbds-related severe neonatal spondylometaphyseal dysplasia	Enrichment	SBDS	2.56
25	Granulomatous disease, chronic, autosomal recessive, 1	Enrichment	NCF1	2.26
26	Isolated growth hormone deficiency, type iii, with agammaglobulinemia	Enrichment	BTK	2.26
27	Granulomatous disease, chronic, autosomal recessive, 3	Enrichment	NCF4	2.26
28	Adams-oliver syndrome 5	Enrichment	NOTCH1	2.26
29	Immunodeficiency, common variable, 12, with autoimmunity	Enrichment	NFKB1	2.26
30	Adams-oliver syndrome 2	Enrichment	DOCK6	2.26
31	Adams-oliver syndrome 3	Enrichment	RBPJ	2.26
32	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	2.26
33	Agammaglobulinemia, x-linked	Enrichment	BTK	2.26
34	Immune system disease	Enrichment	CDC42	2.26
35	Paget's disease of bone	Enrichment	DOCK6	2.26
36	Common variable immunodeficiency 12	Enrichment	NFKB1	2.26
37	Zimmermann-laband syndrome 1	Enrichment	KCNN3	2.09
38	Autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia	Enrichment	CYBA	2.09
39	Immunodeficiency 98 with autoinflammation, x-linked	Enrichment	TLR8	2.09
40	Agammaglobulinemia 1, autosomal recessive	Enrichment	BTK	2.09
41	Hypercholanemia, familial 1	Enrichment	DOCK6	2.09
42	Estrogen resistance	Enrichment	ESR1	2.09
43	Mitochondrial dna depletion syndrome 3	Enrichment	DGUOK	2.09
44	Portal hypertension, noncirrhotic, 1	Enrichment	DGUOK	2.09
45	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4	Enrichment	DGUOK	2.09
46	Agammaglobulinemia 1	Enrichment	BTK	2.09
47	Migraine without aura	Enrichment	ESR1	2.09
48	Autoimmune polyendocrine syndrome type 1	Enrichment	CYBA	2.09
49	Keratoacanthoma	Enrichment	NOTCH1	2.09
50	Anemia, autoimmune hemolytic	Enrichment	TLR8	1.96
51	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.96
52	Arthrogryposis multiplex congenita 3, myogenic type	Enrichment	ESR1	1.96
53	Enophthalmos	Enrichment	SBDS	1.96
54	Portal hypertension	Enrichment	DGUOK	1.96
55	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	CDC42	1.96
56	Aplasia cutis congenita	Enrichment	DLL4	1.87
57	Idiopathic aplastic anemia	Enrichment	SBDS	1.87
58	Common variable immunodeficiency	Enrichment	NFKB1	1.72
59	Hypoplastic left heart syndrome	Enrichment	NOTCH1	1.67
60	Cardiomyopathy, familial hypertrophic, 4	Enrichment	NCF1	1.61
61	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	RAC1	1.61
62	Ciliary dyskinesia, primary, 3	Enrichment	NFKB1	1.57
63	Aplastic anemia	Enrichment	SBDS	1.57
64	Migraine with or without aura 1	Enrichment	ESR1	1.53
65	Specific learning disability	Enrichment	MAPK1	1.53
66	Aortic valve disease 1	Enrichment	NOTCH1	1.46
67	Hypercholesterolemia, familial, 1	Enrichment	DOCK6	1.46
68	Aortic aneurysm, familial thoracic 1	Enrichment	NOTCH1	1.43
69	Familial hypercholesterolemia	Enrichment	DOCK6	1.40
70	Microcephaly	Enrichment	MAPK1, SBDS	1.35
71	Heart, malformation of	Enrichment	MAPK1	1.32
72	Diffuse large b-cell lymphoma	Enrichment	BTK	1.30
73	Myocardial infarction	Enrichment	ESR1	1.23
74	Tetralogy of fallot	Enrichment	NOTCH1	1.16
75	Connective tissue disease	Enrichment	NOTCH1	1.08
76	Cerebral palsy	Enrichment	ARHGAP31	0.99
77	Type 2 diabetes mellitus	Enrichment	RBPJ	0.96
78	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	NOTCH1	0.95
79	Hereditary breast carcinoma	Enrichment	ESR1	0.95
80	Breast cancer	Enrichment	ESR1	0.73

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

Genetic causes of porto-sinusoidal vascular disease

Pathway Network for Genetic causes of porto-sinusoidal vascular disease

Member Pathways for Genetic causes of porto-sinusoidal vascular disease

Pathways in the Genetic causes of porto-sinusoidal vascular disease SuperPath

Associated Genes for Genetic causes of porto-sinusoidal vascular disease

Associated Disorders for Genetic causes of porto-sinusoidal vascular disease

Disorders associated with Genetic causes of porto-sinusoidal vascular disease SuperPath

STRING Interaction Network for Genetic causes of porto-sinusoidal vascular disease

Sources for Genetic causes of porto-sinusoidal vascular disease