Elastic fibre formation

No Pathway Network information available for Elastic fibre formation

Pathways in the Elastic fibre formation SuperPath

#	Name	Source	Genes
1	Elastic fibre formation	Reactome	BMP10 BMP2 BMP4 BMP7 EFEMP1 EFEMP2 ELN EMILIN1 EMILIN2 EMILIN3 FBLN1 FBLN2 FBLN5 FBN1 FBN2 FBN3 FN1 FURIN GDF5 ITGA5 ITGA8 ITGAV ITGB1 ITGB3 ITGB5 ITGB6 ITGB8 LOX LOXL1 LOXL2 LOXL3 LOXL4 LTBP1 LTBP2 LTBP3 LTBP4 MFAP2 MFAP3 MFAP4 MFAP5 TGFB1 TGFB2 TGFB3 VTN (see all 44) (see less)
2	Molecules associated with elastic fibres	Reactome	BMP10 BMP2 BMP4 BMP7 EFEMP1 EFEMP2 ELN EMILIN1 EMILIN2 EMILIN3 FBLN1 FBLN2 FBLN5 FBN1 FBN2 FBN3 FN1 GDF5 ITGA8 ITGAV ITGB1 ITGB3 ITGB5 ITGB6 ITGB8 LTBP1 LTBP2 LTBP3 LTBP4 MFAP2 MFAP3 MFAP4 MFAP5 TGFB1 TGFB2 TGFB3 VTN (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	FBLN5	Fibulin 5	Protein Coding	2
2	EMILIN1	Elastin Microfibril Interfacer 1	Protein Coding	2
3	ELN	Elastin	Protein Coding	2
4	FBLN1	Fibulin 1	Protein Coding	2
5	FBLN2	Fibulin 2	Protein Coding	2
6	FBN1	Fibrillin 1	Protein Coding	2
7	FBN2	Fibrillin 2	Protein Coding	2
8	EFEMP1	EGF-Like Fibulin Extracellular Matrix Protein 1	Protein Coding	2
9	FN1	Fibronectin 1	Protein Coding	2
10	BMP10	Bone Morphogenetic Protein 10	Protein Coding	2
11	EFEMP2	EGF-Like Fibulin Extracellular Matrix Protein 2	Protein Coding	2
12	ITGAV	Integrin Subunit Alpha V	Protein Coding	2
13	ITGB1	Integrin Subunit Beta 1	Protein Coding	2
14	ITGB3	Integrin Subunit Beta 3	Protein Coding	2
15	ITGB5	Integrin Subunit Beta 5	Protein Coding	2
16	ITGB6	Integrin Subunit Beta 6	Protein Coding	2
17	ITGB8	Integrin Subunit Beta 8	Protein Coding	2
18	LTBP1	Latent Transforming Growth Factor Beta Binding Protein 1	Protein Coding	2
19	LTBP2	Latent Transforming Growth Factor Beta Binding Protein 2	Protein Coding	2
20	LTBP3	Latent Transforming Growth Factor Beta Binding Protein 3	Protein Coding	2
21	MFAP2	Microfibril Associated Protein 2	Protein Coding	2
22	MFAP3	Microfibril Associated Protein 3	Protein Coding	2
23	MFAP4	Microfibril Associated Protein 4	Protein Coding	2
24	BMP2	Bone Morphogenetic Protein 2	Protein Coding	2
25	BMP4	Bone Morphogenetic Protein 4	Protein Coding	2
26	BMP7	Bone Morphogenetic Protein 7	Protein Coding	2
27	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	2
28	TGFB2	Transforming Growth Factor Beta 2	Protein Coding	2
29	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	2
30	VTN	Vitronectin	Protein Coding	2
31	MFAP5	Microfibril Associated Protein 5	Protein Coding	2
32	GDF5	Growth Differentiation Factor 5	Protein Coding	2
33	EMILIN2	Elastin Microfibril Interfacer 2	Protein Coding	2
34	LTBP4	Latent Transforming Growth Factor Beta Binding Protein 4	Protein Coding	2
35	FBN3	Fibrillin 3	Protein Coding	2
36	ITGA8	Integrin Subunit Alpha 8	Protein Coding	2
37	EMILIN3	Elastin Microfibril Interfacer 3	Protein Coding	2
38	ITGA5	Integrin Subunit Alpha 5	Protein Coding	1
39	LOX	Lysyl Oxidase	Protein Coding	1
40	LOXL1	Lysyl Oxidase Like 1	Protein Coding	1
41	LOXL2	Lysyl Oxidase Like 2	Protein Coding	1
42	FURIN	Furin, Paired Basic Amino Acid Cleaving Enzyme	Protein Coding	1
43	LOXL4	Lysyl Oxidase Like 4	Protein Coding	1
44	LOXL3	Lysyl Oxidase Like 3	Protein Coding	1

Disorders associated with Elastic fibre formation SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	EFEMP2, ELN, FBN1, FBN2, LOX, MFAP5, TGFB2, TGFB3	11.56
2	Marfan syndrome	Enrichment	FBN1, FBN2, LTBP2, TGFB2	8.01
3	Autosomal recessive cutis laxa type i	Enrichment	EFEMP2, FBLN5, LTBP1	7.73
4	Cutis laxa	Enrichment	EFEMP1, EFEMP2, LOX, LTBP4	7.33
5	Loeys-dietz syndrome	Enrichment	FBN1, TGFB2, TGFB3	5.81
6	Acromicric dysplasia	Enrichment	FBN1, LTBP3	5.14
7	Loeys-dietz syndrome 4	Enrichment	TGFB2, TGFB3	5.14
8	Contractural arachnodactyly, congenital	Enrichment	FBN1, FBN2	4.66
9	Weill-marchesani syndrome 1	Enrichment	FBN1, LTBP2	4.66
10	Autosomal dominant cutis laxa	Enrichment	ELN, FBLN5	4.66
11	Geleophysic dysplasia	Enrichment	FBN1, LTBP3	4.66
12	Exfoliation syndrome	Enrichment	LOXL1, LTBP2	4.51
13	Brachydactyly, type a2	Enrichment	BMP2, GDF5	4.36
14	Weill-marchesani syndrome	Enrichment	FBN1, LTBP2	4.36
15	Ventricular septal defect 1	Enrichment	BMP2, BMP7	4.14
16	Juvenile glaucoma	Enrichment	EFEMP1, LTBP2	4.14
17	Atrial septal defect 1	Enrichment	BMP2, TGFB2	3.97
18	Inguinal hernia	Enrichment	EFEMP1, FBN1	3.97
19	Familial thoracic aortic aneurysm and dissection	Enrichment	FBN1, LOX	3.44
20	Stickler syndrome	Enrichment	BMP4, LOXL3	3.34
21	Aortic aneurysm, familial thoracic 1	Enrichment	FBN1, LOX	3.04
22	Ehlers-danlos syndrome	Enrichment	FBN2, TGFB2	2.92
23	Scoliosis	Enrichment	EFEMP1, FBN1	2.72
24	Bladder diverticulum	Enrichment	EFEMP1	2.56
25	Ectopia lentis 1, isolated, autosomal dominant	Enrichment	FBN1	2.56
26	Cutis laxa, autosomal recessive, type ia	Enrichment	FBLN5	2.56
27	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	Enrichment	LTBP2	2.56
28	Glaucoma 3, primary congenital, d	Enrichment	LTBP2	2.56
29	Angel-shaped phalangoepiphyseal dysplasia	Enrichment	GDF5	2.56
30	Glaucoma 1, open angle, h	Enrichment	EFEMP1	2.56
31	Macular degeneration, age-related, 3	Enrichment	FBLN5	2.56
32	Weill-marchesani syndrome 2	Enrichment	FBN1	2.56
33	Geleophysic dysplasia 2	Enrichment	FBN1	2.56
34	Protrusio acetabuli	Enrichment	FBN1	2.56
35	Weill-marchesani syndrome 3	Enrichment	LTBP2	2.56
36	Macular degeneration, early-onset	Enrichment	FBN2	2.56
37	Neuronopathy, distal hereditary motor, autosomal dominant 10	Enrichment	EMILIN1	2.56
38	Cutis laxa, autosomal recessive, type id	Enrichment	EFEMP1	2.56
39	Microphthalmia, syndromic 6	Enrichment	BMP4	2.56
40	Synpolydactyly 2	Enrichment	FBLN1	2.56
41	Lymphoplasmacytic lymphoma	Enrichment	FBN1	2.56
42	Orofacial cleft 11	Enrichment	BMP4	2.56
43	Aortic aneurysm, familial thoracic 9	Enrichment	MFAP5	2.56
44	Camurati-engelmann disease 2	Enrichment	TGFB2	2.56
45	Geleophysic dysplasia 3	Enrichment	LTBP3	2.56
46	Cutis laxa, autosomal dominant 2	Enrichment	FBLN5	2.56
47	Loeys-dietz syndrome 5	Enrichment	TGFB3	2.56
48	20p12.3 microdeletion syndrome	Enrichment	BMP2	2.56
49	Cutis laxa, autosomal recessive, type iie	Enrichment	LTBP1	2.56
50	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	Enrichment	BMP2	2.56
51	Charcot-marie-tooth disease, demyelinating, type 1h	Enrichment	FBLN5	2.56
52	Amelogenesis imperfecta, type ih	Enrichment	ITGB6	2.56
53	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea	Enrichment	LTBP2	2.56
54	Immune dysregulation, neurodevelopmental defects, and colitis	Enrichment	ITGAV	2.56
55	Arterial tortuosity-bone fragility syndrome	Enrichment	EMILIN1	2.56
56	Lethal arteriopathy syndrome due to fibulin-4 deficiency	Enrichment	EFEMP2	2.56
57	Fbln1-related developmental delay-central nervous system anomaly-syndactyly syndrome	Enrichment	FBLN1	2.56
58	Neonatal marfan syndrome	Enrichment	FBN1	2.56
59	Emilin-1-related connective tissue disease	Enrichment	EMILIN1	2.56
60	Hereditary sensorimotor neuropathy with hyperelastic skin	Enrichment	FBLN5	2.56
61	Connective tissue disease	Enrichment	EFEMP1, FBN1	2.47
62	Cutis laxa, autosomal dominant 1	Enrichment	ELN	2.26
63	Camurati-engelmann disease 1	Enrichment	TGFB1	2.26
64	Spondyloepimetaphyseal dysplasia, strudwick type	Enrichment	FN1	2.26
65	Spondylometaphyseal dysplasia, corner fracture type	Enrichment	FN1	2.26
66	Stiff skin syndrome	Enrichment	FBN1	2.26
67	Doyne honeycomb retinal dystrophy	Enrichment	EFEMP1	2.26
68	Multiple synostoses syndrome 2	Enrichment	GDF5	2.26
69	Cutis laxa, autosomal recessive, type ic	Enrichment	LTBP4	2.26
70	Beaulieu-boycott-innes syndrome	Enrichment	FBN1	2.26
71	Brachydactyly, type a1, c	Enrichment	GDF5	2.26
72	Symphalangism, proximal, 1b	Enrichment	GDF5	2.26
73	Supravalvular aortic stenosis	Enrichment	ELN	2.26
74	Inflammatory bowel disease, immunodeficiency, and encephalopathy	Enrichment	TGFB1	2.26
75	Aortic dissection	Enrichment	FBN1	2.26
76	Marfanoid-progeroid-lipodystrophy syndrome	Enrichment	FBN1	2.26
77	Optic disk drusen	Enrichment	EFEMP1	2.26
78	Camurati-engelmann disease	Enrichment	TGFB1	2.26
79	Proximal symphalangism	Enrichment	GDF5	2.26
80	Craniosynostosis 7	Enrichment	BMP2	2.26
81	Lens subluxation	Enrichment	FBN1	2.26
82	Myopia 28, autosomal recessive	Enrichment	LOXL3	2.19
83	Aortic aneurysm, familial thoracic 10	Enrichment	LOX	2.19
84	Brachydactyly, type a1	Enrichment	GDF5	2.09
85	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	ITGB3	2.09
86	Achondroplasia	Enrichment	FBN1	2.09
87	Mccune-albright syndrome	Enrichment	FBN1	2.09
88	Brachydactyly, type c	Enrichment	GDF5	2.09
89	Arterial tortuosity syndrome	Enrichment	EMILIN1	2.09
90	Bleeding disorder, platelet-type, 16	Enrichment	ITGB3	2.09
91	Acromesomelic dysplasia 2a	Enrichment	GDF5	2.09
92	Acromesomelic dysplasia 2c	Enrichment	GDF5	2.09
93	Acromesomelic dysplasia 2b	Enrichment	GDF5	2.09
94	Glomerulopathy with fibronectin deposits 2	Enrichment	FN1	2.09
95	Muscular dystrophy, duchenne type	Enrichment	LTBP4	2.09
96	Transposition of the great arteries, dextro-looped	Enrichment	BMP2	2.09
97	Cutis laxa, autosomal recessive, type ib	Enrichment	EFEMP2	2.09
98	Isolated ectopia lentis	Enrichment	FBN1	2.09
99	Bleeding disorder, platelet-type, 24	Enrichment	ITGB3	2.09
100	Alopecia - intellectual disability syndrome	Enrichment	ITGB6	2.09
101	Familial drusen	Enrichment	EFEMP1	2.09
102	Amelogenesis imperfecta, type iiia	Enrichment	ITGB6	1.96
103	Glaucoma 3, primary infantile, b	Enrichment	LTBP2	1.96
104	Multiple synostoses syndrome	Enrichment	GDF5	1.96
105	Aortic aneurysm	Enrichment	FBN1	1.96
106	Mitral valve insufficiency	Enrichment	FBN1	1.96
107	3-methylglutaconic aciduria, type viii	Enrichment	LOXL3	1.89
108	Autosomal recessive stickler syndrome	Enrichment	LOXL3	1.89
109	Polycystic liver disease 1 with or without kidney cysts	Enrichment	FBN1	1.87
110	Arrhythmogenic right ventricular dysplasia, familial, 1	Enrichment	TGFB3	1.87
111	Arthrogryposis, renal dysfunction, and cholestasis 1	Enrichment	FBN1	1.87
112	Goldberg-shprintzen syndrome	Enrichment	FBN1	1.87
113	Congenital heart defects, multiple types, 4	Enrichment	BMP7	1.87
114	Glanzmann thrombasthenia 2	Enrichment	ITGB3	1.87
115	Polycystic liver disease 1	Enrichment	FBN1	1.87
116	Night blindness	Enrichment	EFEMP1	1.87
117	Arrhythmogenic right ventricular dysplasia 1	Enrichment	TGFB3	1.87
118	Glaucoma, primary open angle	Enrichment	LTBP2	1.79
119	Dental anomalies and short stature	Enrichment	LTBP3	1.79
120	Anterior segment dysgenesis 5	Enrichment	BMP4	1.79
121	Inflammatory bowel disease 25, autosomal recessive	Enrichment	TGFB1	1.79
122	Fetomaternal alloimmune thrombocytopenia 1	Enrichment	ITGB3	1.79
123	Il10-related early-onset inflammatory bowel disease	Enrichment	TGFB1	1.79
124	Glaucoma 3, primary congenital, a	Enrichment	LTBP2	1.72
125	Brugada syndrome 1	Enrichment	FBN1	1.72
126	Glanzmann thrombasthenia 1	Enrichment	ITGB3	1.72
127	Hemochromatosis, type 1	Enrichment	BMP2	1.67
128	Renal hypodysplasia/aplasia 1	Enrichment	ITGA8	1.67
129	Orthostatic intolerance	Enrichment	FBN1	1.67
130	Renal agenesis, bilateral	Enrichment	ITGA8	1.61
131	Peters-plus syndrome	Enrichment	BMP4	1.57
132	Amelogenesis imperfecta, type ie	Enrichment	ITGB6	1.57
133	Stroke, ischemic	Enrichment	FBN1	1.57
134	Melanoma	Enrichment	FBN1	1.57
135	Autosomal dominant macrothrombocytopenia	Enrichment	ITGB3	1.57
136	Pectus excavatum	Enrichment	FBN1	1.53
137	Renal hypodysplasia/aplasia 3	Enrichment	BMP4	1.49
138	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	TGFB3	1.49
139	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	TGFB3	1.49
140	Diaphragmatic hernia, congenital	Enrichment	FBN1	1.46
141	Neural tube defects	Enrichment	ITGB1	1.46
142	Amelogenesis imperfecta	Enrichment	LTBP3	1.46
143	Cleft lip/palate	Enrichment	BMP4	1.43
144	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	TGFB3	1.43
145	Myopia	Enrichment	FBN1	1.40
146	Perrault syndrome 1	Enrichment	FBN1	1.37
147	Williams-beuren syndrome	Enrichment	ELN	1.27
148	Myocardial infarction	Enrichment	ITGB3	1.23
149	Severe covid-19	Enrichment	ITGAV	1.12
150	Cystic fibrosis	Enrichment	TGFB1	1.08
151	Fetal akinesia deformation sequence 1	Enrichment	FBN2	1.02
152	Myopathy	Enrichment	FBN1	0.98
153	Nephrotic syndrome	Enrichment	FN1	0.95
154	Thrombocytopenia	Enrichment	ITGB3	0.91
155	Hypertelorism	Enrichment	ELN	0.88
156	Dilated cardiomyopathy	Enrichment	FBN1	0.71
157	Hereditary retinal dystrophy	Enrichment	EFEMP1	0.26
158	Fundus dystrophy	Enrichment	EFEMP1	0.26

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¹¹ MalaCards

Elastic fibre formation

Pathway Network for Elastic fibre formation

Member Pathways for Elastic fibre formation

Pathways in the Elastic fibre formation SuperPath

Associated Genes for Elastic fibre formation

Associated Disorders for Elastic fibre formation

Disorders associated with Elastic fibre formation SuperPath

STRING Interaction Network for Elastic fibre formation

Sources for Elastic fibre formation