Envelope proteins and their potential roles in EDMD physiopathology

No Pathway Network information available for Envelope proteins and their potential roles in EDMD physiopathology

Pathways in the Envelope proteins and their potential roles in EDMD physiopathology SuperPath

#	Name	Source	Genes
1	Envelope proteins and their potential roles in EDMD physiopathology	WikiPathways	ADCY10 ADCY5 ADCY7 BANF1 CCN2 CFL1 EMD GRB2 HRAS KIF5B KRAS LBR LEMD3 MAP2K1 MAP2K2 MAP3K9 MAPK1 MAPK3 NRAS PLEC RHOA SMAD2 SMAD3 SMAD4 SOS1 SOS2 SRF SUN1 SYNE2 SYNE3 SYNE4 TAFAZZIN TGFB3 TMEM43 TMPO YY1AP1 (see all 36) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	BANF1	Barrier To Autointegration Nuclear Assembly Factor 1	Protein Coding	1
2	TMEM43	Transmembrane Protein 43	Protein Coding	1
3	TMPO	Thymopoietin	Protein Coding	1
4	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	1
5	TAFAZZIN	Tafazzin, Phospholipid-Lysophospholipid Transacylase	Protein Coding	1
6	SRF	Serum Response Factor	Protein Coding	1
7	SOS2	SOS Ras/Rho Guanine Nucleotide Exchange Factor 2	Protein Coding	1
8	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	1
9	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	1
10	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	1
11	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	1
12	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	1
13	ADCY10	Adenylate Cyclase 10	Protein Coding	1
14	YY1AP1	YY1 Associated Protein 1	Protein Coding	1
15	PLEC	Plectin	Protein Coding	1
16	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	1
17	MAP3K9	Mitogen-Activated Protein Kinase Kinase Kinase 9	Protein Coding	1
18	SMAD4	SMAD Family Member 4	Protein Coding	1
19	SMAD3	SMAD Family Member 3	Protein Coding	1
20	SMAD2	SMAD Family Member 2	Protein Coding	1
21	LBR	Lamin B Receptor	Protein Coding	1
22	RHOA	Ras Homolog Family Member A	Protein Coding	1
23	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	1
24	KIF5B	Kinesin Family Member 5B	Protein Coding	1
25	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	1
26	LEMD3	LEM Domain Containing 3	Protein Coding	1
27	SUN1	Sad1 And UNC84 Domain Containing 1	Protein Coding	1
28	SYNE2	Spectrin Repeat Containing Nuclear Envelope Protein 2	Protein Coding	1
29	EMD	Emerin	Protein Coding	1
30	SYNE4	Spectrin Repeat Containing Nuclear Envelope Family Member 4	Protein Coding	1
31	CCN2	Cellular Communication Network Factor 2	Protein Coding	1
32	ADCY7	Adenylate Cyclase 7	Protein Coding	1
33	ADCY5	Adenylate Cyclase 5	Protein Coding	1
34	CFL1	Cofilin 1	Protein Coding	1
35	SYNE3	Spectrin Repeat Containing Nuclear Envelope Family Member 3	Protein Coding	1
36	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	1

Disorders associated with Envelope proteins and their potential roles in EDMD physiopathology SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Rasopathy	Enrichment	HRAS, KRAS, MAP2K1, MAP2K2, NRAS, SOS1, SOS2	16.00
2	Noonan syndrome 1	Enrichment	HRAS, KRAS, MAP2K1, MAP2K2, NRAS, SOS1, SOS2	10.95
3	Noonan syndrome and noonan-related syndrome	Enrichment	HRAS, KRAS, MAP2K1, MAP2K2, NRAS, SOS1	10.54
4	Lung non-small cell carcinoma	Enrichment	HRAS, KRAS, MAP2K1, NRAS	7.87
5	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS, KRAS, NRAS	7.16
6	Cardiofaciocutaneous syndrome 1	Enrichment	KRAS, MAP2K1, MAP2K2	7.16
7	Cardiofaciocutaneous syndrome	Enrichment	KRAS, MAP2K1, MAP2K2	7.16
8	Nevus, epidermal	Enrichment	HRAS, KRAS, NRAS	6.22
9	Noonan syndrome 3	Enrichment	HRAS, KRAS, SOS1	6.22
10	Loeys-dietz syndrome	Enrichment	SMAD2, SMAD3, TGFB3	5.85
11	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	SMAD2, SMAD3, SMAD4, TGFB3	5.28
12	Ras-associated autoimmune leukoproliferative disorder	Enrichment	KRAS, NRAS	5.16
13	Langerhans cell histiocytosis	Enrichment	MAP2K1, NRAS	4.69
14	Large congenital melanocytic nevus	Enrichment	HRAS, NRAS	4.69
15	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	KRAS, NRAS	4.39
16	Dilated cardiomyopathy	Enrichment	EMD, KIF5B, TAFAZZIN, TMEM43	4.24
17	Differentiated thyroid carcinoma	Enrichment	HRAS, KRAS, NRAS	4.22
18	Emery-dreifuss muscular dystrophy 2, autosomal dominant	Enrichment	SYNE2, TMEM43	3.99
19	Thyroid cancer, nonmedullary, 2	Enrichment	HRAS, NRAS	3.85
20	Capillary malformation-arteriovenous malformation 1	Enrichment	KRAS, MAP2K1	3.85
21	Leukemia, chronic myeloid	Enrichment	KRAS, NRAS	3.85
22	Gallbladder cancer	Enrichment	KRAS, SMAD4	3.85
23	Follicular thyroid carcinoma	Enrichment	HRAS, NRAS	3.85
24	Melanocytic nevus syndrome, congenital	Enrichment	HRAS, NRAS	3.72
25	Arteriovenous malformation	Enrichment	HRAS, MAP2K1	3.61
26	Myopathy, x-linked, with excessive autophagy	Enrichment	HRAS, MAP2K1	3.52
27	Juvenile myelomonocytic leukemia	Enrichment	KRAS, NRAS	3.35
28	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	TGFB3, TMEM43	3.35
29	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	TGFB3, TMEM43	3.35
30	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	TGFB3, TMEM43	3.21
31	Arteriovenous malformations of the brain	Enrichment	KRAS, LEMD3	2.94
32	Pancreatic cancer	Enrichment	KRAS, SMAD4	2.70
33	Buschke-ollendorff syndrome	Enrichment	LEMD3	2.58
34	Oculoectodermal syndrome	Enrichment	KRAS	2.58
35	Noonan syndrome 4	Enrichment	SOS1	2.58
36	Arrhythmogenic right ventricular dysplasia, familial, 5	Enrichment	TMEM43	2.58
37	Melorheostosis, isolated	Enrichment	MAP2K1	2.58
38	Cardiofaciocutaneous syndrome 3	Enrichment	MAP2K1	2.58
39	Melanosis, neurocutaneous	Enrichment	NRAS	2.58
40	Noonan syndrome 9	Enrichment	SOS2	2.58
41	Dyskinesia with orofacial involvement, autosomal dominant	Enrichment	ADCY5	2.58
42	Noonan syndrome 6	Enrichment	NRAS	2.58
43	Greenberg dysplasia	Enrichment	LBR	2.58
44	Pelger-huet anomaly	Enrichment	LBR	2.58
45	Noonan syndrome 13	Enrichment	MAPK1	2.58
46	Rhizomelic skeletal dysplasia with or without pelger-huet anomaly	Enrichment	LBR	2.58
47	Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	Enrichment	ADCY5	2.58
48	Cardiofaciocutaneous syndrome 2	Enrichment	KRAS	2.58
49	Dyskinesia with orofacial involvement, autosomal recessive	Enrichment	ADCY5	2.58
50	Melorheostosis	Enrichment	MAP2K1	2.58
51	Emery-dreifuss muscular dystrophy 7, autosomal dominant	Enrichment	TMEM43	2.58
52	Emery-dreifuss muscular dystrophy 5, autosomal dominant	Enrichment	SYNE2	2.58
53	Deafness, autosomal recessive 76	Enrichment	SYNE4	2.58
54	Cardiofaciocutaneous syndrome 4	Enrichment	MAP2K2	2.58
55	Nestor-guillermo progeria syndrome	Enrichment	BANF1	2.58
56	Loeys-dietz syndrome 6	Enrichment	SMAD2	2.58
57	Reynolds syndrome	Enrichment	LBR	2.58
58	Loeys-dietz syndrome 5	Enrichment	TGFB3	2.58
59	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	Enrichment	RHOA	2.58
60	Auditory neuropathy, autosomal dominant 3	Enrichment	TMEM43	2.58
61	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	Enrichment	RHOA	2.58
62	Melorheostosis with osteopoikilosis	Enrichment	LEMD3	2.58
63	Congenital heart defects, multiple types, 8, with or without heterotaxy	Enrichment	SMAD2	2.58
64	Heritable thoracic aortic disease	Enrichment	SMAD4	2.58
65	Congenital pulmonary airway malformation	Enrichment	KRAS	2.58
66	Idiopathic hypercalciuria	Enrichment	ADCY10	2.58
67	Qualitative or quantitative defects of plectin	Enrichment	PLEC	2.58
68	Isolated osteopoikilosis	Enrichment	LEMD3	2.58
69	Phakomatosis pigmentokeratotica	Enrichment	HRAS	2.58
70	Neurocutaneous melanocytosis	Enrichment	NRAS	2.58
71	Bladder cancer	Enrichment	HRAS, KRAS	2.58
72	Non-immune hydrops fetalis	Enrichment	HRAS, KRAS	2.52
73	Leukemia, acute myeloid	Enrichment	KRAS, NRAS	2.30
74	Myopathy	Enrichment	EMD, PLEC	2.30
75	Epidermolysis bullosa simplex 5a, ogna type	Enrichment	PLEC	2.28
76	Fibromatosis, gingival, 1	Enrichment	SOS1	2.28
77	Hypercalciuria, absorptive, 2	Enrichment	ADCY10	2.28
78	Myhre syndrome	Enrichment	SMAD4	2.28
79	Costello syndrome	Enrichment	HRAS	2.28
80	Epidermolysis bullosa simplex 5b, with muscular dystrophy	Enrichment	PLEC	2.28
81	Kyphomelic dysplasia	Enrichment	CCN2	2.28
82	Grange syndrome	Enrichment	YY1AP1	2.28
83	Myopathy, x-linked, with postural muscle atrophy	Enrichment	EMD	2.28
84	Pulmonic stenosis	Enrichment	SOS1	2.28
85	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Enrichment	SMAD4	2.28
86	Encephalocraniocutaneous lipomatosis	Enrichment	KRAS	2.28
87	Muscular dystrophy, limb-girdle, autosomal recessive 17	Enrichment	PLEC	2.28
88	Loeys-dietz syndrome 3	Enrichment	SMAD3	2.28
89	Spondyloepimetaphyseal dysplasia, li-shao-li type	Enrichment	CCN2	2.28
90	Autosomal recessive limb-girdle muscular dystrophy type 2q	Enrichment	PLEC	2.28
91	Osteopoikilosis	Enrichment	LEMD3	2.28
92	Loeys-dietz syndrome 4	Enrichment	TGFB3	2.28
93	12q14 microdeletion syndrome	Enrichment	LEMD3	2.28
94	Skeletal muscle disease	Enrichment	KIF5B	2.28
95	Tafro syndrome	Enrichment	MAP2K2	2.28
96	X-linked emery-dreifuss muscular dystrophy	Enrichment	EMD	2.28
97	Wooly hair nevus	Enrichment	HRAS	2.28
98	Gastric cancer	Enrichment	KRAS, SMAD4	2.24
99	Hypertrophic cardiomyopathy	Enrichment	KIF5B, TMEM43	2.24
100	Juvenile polyposis syndrome	Enrichment	SMAD4	2.10
101	Nuchal bleb, familial	Enrichment	SOS1	2.10
102	Barth syndrome	Enrichment	TAFAZZIN	2.10
103	Loeys-dietz syndrome 1	Enrichment	SMAD2	2.10
104	Epidermolysis bullosa simplex 5d, generalized intermediate, autosomal recessive	Enrichment	PLEC	2.10
105	Spermatocytoma	Enrichment	HRAS	2.10
106	Familial isolated dilated cardiomyopathy	Enrichment	TAFAZZIN, TMPO	2.06
107	Chorea, benign hereditary	Enrichment	ADCY5	1.98
108	Diffuse gastric and lobular breast cancer syndrome	Enrichment	KRAS	1.98
109	Emery-dreifuss muscular dystrophy 1, x-linked	Enrichment	EMD	1.98
110	Neurofibromatosis-noonan syndrome	Enrichment	MAP2K2	1.98
111	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.98
112	Epidermolysis bullosa simplex 5c, with pyloric atresia	Enrichment	PLEC	1.98
113	Emery-dreifuss muscular dystrophy	Enrichment	EMD	1.98
114	Lung sarcomatoid carcinoma	Enrichment	KRAS	1.98
115	Aortic aneurysm	Enrichment	SMAD3	1.98
116	Pilocytic astrocytoma	Enrichment	KRAS	1.98
117	Epidermolytic nevus	Enrichment	HRAS	1.98
118	Gingival fibromatosis	Enrichment	SOS1	1.98
119	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	SOS2	1.98
120	Epidermolysis bullosa simplex 2f, with mottled pigmentation	Enrichment	PLEC	1.88
121	Epidermolysis bullosa simplex 1a, generalized severe	Enrichment	PLEC	1.88
122	Arrhythmogenic right ventricular dysplasia, familial, 1	Enrichment	TGFB3	1.88
123	Kearns-sayre syndrome	Enrichment	KIF5B	1.88
124	Arrhythmogenic right ventricular dysplasia 1	Enrichment	TGFB3	1.88
125	Aplasia cutis congenita	Enrichment	PLEC	1.88
126	Diffuse cutaneous systemic sclerosis	Enrichment	CCN2	1.88
127	Generalized juvenile polyposis/juvenile polyposis coli	Enrichment	SMAD4	1.88
128	Hemihyperplasia, isolated	Enrichment	RHOA	1.80
129	Epidermolysis bullosa, junctional 5b, with pyloric atresia	Enrichment	PLEC	1.80
130	Limited scleroderma	Enrichment	CCN2	1.80
131	Breast adenocarcinoma	Enrichment	KRAS	1.80
132	Lung squamous cell carcinoma	Enrichment	KRAS	1.80
133	Hereditary hemorrhagic telangiectasia	Enrichment	SMAD4	1.73
134	Pilomyxoid astrocytoma	Enrichment	KRAS	1.73
135	Epidermolysis bullosa simplex	Enrichment	PLEC	1.73
136	Colorectal cancer	Enrichment	NRAS, SMAD4	1.65
137	Familial isolated arrhythmogenic right ventricular dysplasia	Enrichment	TMEM43	1.63
138	Familial thoracic aortic aneurysm and dissection	Enrichment	SMAD3	1.63
139	Specific learning disability	Enrichment	MAPK1	1.54
140	Lip and oral cavity carcinoma	Enrichment	HRAS	1.50
141	Aortic valve disease 1	Enrichment	SOS1	1.47
142	Protein-deficiency anemia	Enrichment	NRAS	1.47
143	Multiple sclerosis	Enrichment	PLEC	1.44
144	Aortic aneurysm, familial thoracic 1	Enrichment	SMAD3	1.44
145	Lung cancer susceptibility 3	Enrichment	KRAS	1.44
146	46,xy partial gonadal dysgenesis	Enrichment	SOS1	1.44
147	Lynch syndrome	Enrichment	KRAS	1.41
148	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	TMEM43	1.38
149	Rhabdomyosarcoma	Enrichment	HRAS	1.38
150	Heart, malformation of	Enrichment	MAPK1	1.33
151	Neuromuscular disease	Enrichment	EMD	1.33
152	Neuropathy, hereditary motor and sensory, okinawa type	Enrichment	EMD	1.31
153	Ehlers-danlos syndrome	Enrichment	SMAD3	1.31
154	Attention deficit-hyperactivity disorder	Enrichment	KIF5B	1.25
155	Skin disease	Enrichment	PLEC	1.25
156	Jeune thoracic dystrophy	Enrichment	LBR	1.19
157	Hydrops fetalis, nonimmune	Enrichment	HRAS	1.18
158	Asphyxiating thoracic dystrophy	Enrichment	LBR	1.14
159	Lung cancer	Enrichment	KRAS	1.09
160	Connective tissue disease	Enrichment	SMAD3	1.09
161	Short-rib thoracic dysplasia 1 with or without polydactyly	Enrichment	LBR	1.08
162	Left ventricular noncompaction	Enrichment	TAFAZZIN	1.05
163	Non-syndromic genetic deafness	Enrichment	SYNE4	1.04
164	Cerebral palsy	Enrichment	SYNE2	1.01
165	Nonsyndromic hearing loss	Enrichment	SYNE4	0.98
166	Hereditary breast carcinoma	Enrichment	KRAS	0.96
167	Thrombocytopenia	Enrichment	SMAD4	0.92
168	Spastic ataxia	Enrichment	SYNE2	0.88
169	Hereditary breast ovarian cancer syndrome	Enrichment	KRAS	0.87
170	Myeloma, multiple	Enrichment	KRAS	0.86
171	Breast cancer	Enrichment	KRAS	0.74
172	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	SYNE4	0.68
173	Ovarian cancer	Enrichment	KRAS	0.63
174	Autism spectrum disorder	Enrichment	MAP2K1	0.60
175	Microcephaly	Enrichment	MAPK1	0.55
176	Inherited cancer-predisposing syndrome	Enrichment	SMAD4	0.53

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

Envelope proteins and their potential roles in EDMD physiopathology

Pathway Network for Envelope proteins and their potential roles in EDMD physiopathology

Member Pathways for Envelope proteins and their potential roles in EDMD physiopathology

Pathways in the Envelope proteins and their potential roles in EDMD physiopathology SuperPath

Associated Genes for Envelope proteins and their potential roles in EDMD physiopathology

Associated Disorders for Envelope proteins and their potential roles in EDMD physiopathology

Disorders associated with Envelope proteins and their potential roles in EDMD physiopathology SuperPath

STRING Interaction Network for Envelope proteins and their potential roles in EDMD physiopathology

Sources for Envelope proteins and their potential roles in EDMD physiopathology