Enhanced binding of GP1BA variant to VWF multimer:collagen

Pathway network for the Enhanced binding of GP1BA variant to VWF multimer:collagen SuperPath

Sources:

Reactome

Pathways in the Enhanced binding of GP1BA variant to VWF multimer:collagen SuperPath

#	Name	Source	Genes
1	Enhanced binding of GP1BA variant to VWF multimer:collagen	Reactome	COL1A1 COL1A2 GP1BA GP1BB GP5 GP9 VWF (see all 7) (see less)
2	Platelet Adhesion to exposed collagen	Reactome	ADAMTS13 COL1A1 COL1A2 FCER1G FYN GP1BA GP1BB GP5 GP6 GP9 ITGA1 ITGA10 ITGA2 ITGB1 LYN VWF (see all 16) (see less)
3	GP1b-IX-V activation signalling	Reactome	COL1A1 COL1A2 FLNA GP1BA GP1BB GP5 GP9 PIK3R1 RAF1 SRC VWF YWHAZ (see all 12) (see less)
4	Defects of platelet adhesion to exposed collagen	Reactome	ADAMTS13 COL1A1 COL1A2 GP1BA GP1BB GP5 GP9 VWF (see all 8) (see less)
5	Defective binding of VWF variant to GPIb:IX:V	Reactome	COL1A1 COL1A2 GP1BA GP1BB GP5 GP9 VWF (see all 7) (see less)
6	Enhanced cleavage of VWF variant by ADAMTS13	Reactome	ADAMTS13 COL1A1 COL1A2 VWF
7	Defective VWF cleavage by ADAMTS13 variant	Reactome	ADAMTS13 COL1A1 COL1A2 VWF
8	Defective VWF binding to collagen type I	Reactome	COL1A1 COL1A2 VWF

Gene overlap in member pathways for Enhanced binding of GP1BA variant to VWF multimer:collagen SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	8
2	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	8
3	VWF	Von Willebrand Factor	Protein Coding	8
4	GP1BA	Glycoprotein Ib Platelet Subunit Alpha	Protein Coding	5
5	GP1BB	Glycoprotein Ib Platelet Subunit Beta	Protein Coding	5
6	GP5	Glycoprotein V Platelet	Protein Coding	5
7	GP9	Glycoprotein IX Platelet	Protein Coding	5
8	ADAMTS13	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 13	Protein Coding	4
9	FCER1G	Fc Epsilon Receptor Ig	Protein Coding	1
10	FYN	FYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
11	ITGA1	Integrin Subunit Alpha 1	Protein Coding	1
12	ITGA2	Integrin Subunit Alpha 2	Protein Coding	1
13	ITGB1	Integrin Subunit Beta 1	Protein Coding	1
14	LYN	LYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
15	GP6	Glycoprotein VI Platelet	Protein Coding	1
16	ITGA10	Integrin Subunit Alpha 10	Protein Coding	1
17	FLNA	Filamin A	Protein Coding	1
18	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	1
19	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
20	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	1
21	YWHAZ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Zeta	Protein Coding	1

Disorders associated with Enhanced binding of GP1BA variant to VWF multimer:collagen SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Blood platelet disease	Direct
2	Immune thrombocytopenia	Direct
3	Thrombocytopenia	Enrichment	GP1BA, GP1BB, GP9, SRC, VWF	9.45
4	Bernard-soulier syndrome	Enrichment	GP1BA, GP1BB, GP9	8.27
5	Fetomaternal alloimmune thrombocytopenia 1	Enrichment	GP1BA, GP1BB, ITGA2	7.57
6	Osteoporosis	Enrichment	COL1A1, COL1A2, SRC	6.72
7	Ehlers-danlos syndrome, arthrochalasia type, 2	Enrichment	COL1A1, COL1A2	6.14
8	Ehlers-danlos/osteogenesis imperfecta syndrome	Enrichment	COL1A1, COL1A2	6.14
9	Periventricular nodular heterotopia 1	Enrichment	FLNA, VWF	5.67
10	High bone mass osteogenesis imperfecta	Enrichment	COL1A1, COL1A2	5.67
11	Ehlers-danlos syndrome, arthrochalasia type, 1	Enrichment	COL1A1, COL1A2	5.37
12	Osteogenesis imperfecta with normal sclerae, dominant form	Enrichment	COL1A1, COL1A2	5.37
13	Ehlers-danlos syndrome, classic type, 1	Enrichment	COL1A1, COL1A2	4.97
14	Osteogenesis imperfecta, type i	Enrichment	COL1A1, COL1A2	4.97
15	Classic ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2	4.97
16	Osteogenesis imperfecta, type ii	Enrichment	COL1A1, COL1A2	4.82
17	Autosomal dominant macrothrombocytopenia	Enrichment	GP1BA, GP1BB	4.49
18	Primary bone dysplasia	Enrichment	COL1A1, COL1A2	4.49
19	Osteochondrodysplasia	Enrichment	COL1A1, COL1A2	4.41
20	Osteogenesis imperfecta, type iv	Enrichment	COL1A1, COL1A2	4.25
21	Osteogenesis imperfecta, type iii	Enrichment	COL1A1, COL1A2	4.13
22	Ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2	3.91
23	Brittle bone disorder	Enrichment	COL1A1, COL1A2	3.75
24	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	COL1A1, FLNA	3.18
25	Bernard-soulier syndrome, type a2, autosomal dominant	Enrichment	GP1BA	3.05
26	Ehlers-danlos syndrome, cardiac valvular type	Enrichment	COL1A2	3.05
27	Von willebrand disease, type 1	Enrichment	VWF	3.05
28	Nonarteritic anterior ischemic optic neuropathy	Enrichment	GP1BA	3.05
29	Otopalatodigital syndrome, type i	Enrichment	FLNA	3.05
30	Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked	Enrichment	FLNA	3.05
31	Noonan syndrome 5	Enrichment	RAF1	3.05
32	Von willebrand disease, platelet-type	Enrichment	GP1BA	3.05
33	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	3.05
34	Von willebrand disease, type 2	Enrichment	VWF	3.05
35	Terminal osseous dysplasia	Enrichment	FLNA	3.05
36	Short syndrome	Enrichment	PIK3R1	3.05
37	Von willebrand disease, type 3	Enrichment	VWF	3.05
38	Combined osteogenesis imperfecta and ehlers-danlos syndrome 2	Enrichment	COL1A2	3.05
39	Fg syndrome 2	Enrichment	FLNA	3.05
40	Otopalatodigital syndrome spectrum disorder	Enrichment	FLNA	3.05
41	Leopard syndrome 2	Enrichment	RAF1	3.05
42	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	3.05
43	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	3.05
44	Thrombocytopenia 6	Enrichment	SRC	3.05
45	X-linked ehlers-danlos syndrome	Enrichment	FLNA	3.05
46	Von willebrand's disease	Enrichment	VWF	3.05
47	Trigonitis	Enrichment	RAF1	3.05
48	Asphyxia neonatorum	Enrichment	COL1A1	3.05
49	Bernard-soulier syndrome type a2	Enrichment	GP1BA	3.05
50	X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome	Enrichment	FLNA	3.05
51	Bleeding disorder, platelet-type, 11	Enrichment	GP6	2.93
52	Autoinflammatory disease, systemic, with vasculitis	Enrichment	LYN	2.93
53	Fetomaternal alloimmune thrombocytopenia 3	Enrichment	ITGA2	2.93
54	Epiphyseal dysplasia, multiple, 1	Enrichment	COL1A1	2.75
55	Bruck syndrome 1	Enrichment	COL1A2	2.75
56	Visceral neuropathy, familial, 1, autosomal recessive	Enrichment	FLNA	2.75
57	Otopalatodigital syndrome, type ii	Enrichment	FLNA	2.75
58	Melnick-needles syndrome	Enrichment	FLNA	2.75
59	Dermatofibrosarcoma protuberans	Enrichment	COL1A1	2.75
60	Frontometaphyseal dysplasia 1	Enrichment	FLNA	2.75
61	Combined osteogenesis imperfecta and ehlers-danlos syndrome 1	Enrichment	COL1A1	2.75
62	Cardiac valvular dysplasia, x-linked	Enrichment	FLNA	2.75
63	Stickler syndrome, type ii	Enrichment	COL1A1	2.75
64	Dentinogenesis imperfecta	Enrichment	COL1A2	2.75
65	Thrombotic thrombocytopenic purpura, hereditary	Enrichment	ADAMTS13	2.63
66	Thrombotic thrombocytopenic purpura	Enrichment	ADAMTS13	2.63
67	Colorectal cancer	Enrichment	PIK3R1, SRC	2.59
68	Prune belly syndrome	Enrichment	FLNA	2.58
69	Arterial tortuosity syndrome	Enrichment	FLNA	2.58
70	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3R1	2.58
71	Congenital short bowel syndrome	Enrichment	FLNA	2.58
72	Caffey disease	Enrichment	COL1A1	2.58
73	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3R1	2.58
74	Frontometaphyseal dysplasia	Enrichment	FLNA	2.58
75	Immunodeficiency 14	Enrichment	PIK3R1	2.58
76	Phenylketonuria	Enrichment	COL1A1	2.45
77	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	YWHAZ	2.45
78	Noonan syndrome with multiple lentigines	Enrichment	RAF1	2.45
79	Keratoconus	Enrichment	COL1A1	2.28
80	Patent ductus arteriosus	Enrichment	FLNA	2.28
81	Myelofibrosis	Enrichment	SRC	2.21
82	Noonan syndrome 3	Enrichment	RAF1	2.21
83	Pilomyxoid astrocytoma	Enrichment	RAF1	2.21
84	Overgrowth syndrome	Enrichment	PIK3R1	2.21
85	Melanocytic nevus syndrome, congenital	Enrichment	RAF1	2.15
86	Fanconi anemia, complementation group c	Enrichment	FLNA	2.15
87	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3R1	2.05
88	Digeorge syndrome	Enrichment	GP1BB	1.98
89	Periventricular nodular heterotopia	Enrichment	FLNA	1.91
90	Noonan syndrome and noonan-related syndrome	Enrichment	RAF1	1.88
91	Cleft palate, isolated	Enrichment	FLNA	1.83
92	Neural tube defects	Enrichment	ITGB1	1.82
93	Patent foramen ovale	Enrichment	FLNA	1.80
94	Atypical hemolytic-uremic syndrome	Enrichment	ADAMTS13	1.76
95	Noonan syndrome 1	Enrichment	RAF1	1.70
96	Cardiomyopathy, familial hypertrophic, 1	Enrichment	RAF1	1.68
97	Rasopathy	Enrichment	RAF1	1.64
98	Familial hypertrophic cardiomyopathy	Enrichment	RAF1	1.54
99	Left ventricular noncompaction	Enrichment	RAF1	1.52
100	Autosomal dominant non-syndromic intellectual disability	Enrichment	YWHAZ	1.36
101	Hypertelorism	Enrichment	COL1A1	1.35
102	Familial isolated dilated cardiomyopathy	Enrichment	RAF1	1.34
103	Dilated cardiomyopathy	Enrichment	RAF1	1.16

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

Enhanced binding of GP1BA variant to VWF multimer:collagen

Pathway Network for Enhanced binding of GP1BA variant to VWF multimer:collagen

Pathway network for the Enhanced binding of GP1BA variant to VWF multimer:collagen SuperPath

Member Pathways for Enhanced binding of GP1BA variant to VWF multimer:collagen

Pathways in the Enhanced binding of GP1BA variant to VWF multimer:collagen SuperPath

Gene overlap in member pathways for Enhanced binding of GP1BA variant to VWF multimer:collagen SuperPath

Associated Genes for Enhanced binding of GP1BA variant to VWF multimer:collagen

Associated Disorders for Enhanced binding of GP1BA variant to VWF multimer:collagen

Disorders associated with Enhanced binding of GP1BA variant to VWF multimer:collagen SuperPath

STRING Interaction Network for Enhanced binding of GP1BA variant to VWF multimer:collagen

Sources for Enhanced binding of GP1BA variant to VWF multimer:collagen