Type I collagen synthesis in the context of osteogenesis imperfecta

No Pathway Network information available for Type I collagen synthesis in the context of osteogenesis imperfecta

Pathways in the Type I collagen synthesis in the context of osteogenesis imperfecta SuperPath

#	Name	Source	Genes
1	Type I collagen synthesis in the context of osteogenesis imperfecta	WikiPathways	ADAMTS2 BMP1 COL1A1 COL1A2 COLGALT1 CREB3L1 CRTAP FKBP10 FZD1 IFITM5 ITPR1 LOX LRP5 LRP6 MBTPS1 MBTPS2 MIA3 P3H1 P3H2 P4HA1 P4HA2 P4HB PLOD1 PLOD2 PPIB SERPINF1 SERPINH1 SP7 TMEM38B TNFRSF11A TNFRSF11B TNFSF11 WNT1 (see all 33) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	COLGALT1	Collagen Beta(1-O)Galactosyltransferase 1	Protein Coding	1
2	ADAMTS2	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 2	Protein Coding	1
3	P4HA2	Prolyl 4-Hydroxylase Subunit Alpha 2	Protein Coding	1
4	TNFRSF11A	TNF Receptor Superfamily Member 11a	Protein Coding	1
5	MBTPS1	Membrane Bound Transcription Factor Peptidase, Site 1	Protein Coding	1
6	SERPINH1	Serpin Family H Member 1	Protein Coding	1
7	TNFSF11	TNF Superfamily Member 11	Protein Coding	1
8	WNT1	Wnt Family Member 1	Protein Coding	1
9	BMP1	Bone Morphogenetic Protein 1	Protein Coding	1
10	P3H1	Prolyl 3-Hydroxylase 1	Protein Coding	1
11	FKBP10	FKBP Prolyl Isomerase 10	Protein Coding	1
12	P3H2	Prolyl 3-Hydroxylase 2	Protein Coding	1
13	TMEM38B	Transmembrane Protein 38B	Protein Coding	1
14	PPIB	Peptidylprolyl Isomerase B	Protein Coding	1
15	PLOD2	Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 2	Protein Coding	1
16	PLOD1	Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1	Protein Coding	1
17	SERPINF1	Serpin Family F Member 1	Protein Coding	1
18	MBTPS2	Membrane Bound Transcription Factor Peptidase, Site 2	Protein Coding	1
19	P4HB	Prolyl 4-Hydroxylase Subunit Beta	Protein Coding	1
20	TNFRSF11B	TNF Receptor Superfamily Member 11b	Protein Coding	1
21	LRP5	LDL Receptor Related Protein 5	Protein Coding	1
22	LRP6	LDL Receptor Related Protein 6	Protein Coding	1
23	LOX	Lysyl Oxidase	Protein Coding	1
24	IFITM5	Interferon Induced Transmembrane Protein 5	Protein Coding	1
25	MIA3	MIA SH3 Domain ER Export Factor 3	Protein Coding	1
26	ITPR1	Inositol 1,4,5-Trisphosphate Receptor Type 1	Protein Coding	1
27	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	1
28	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	1
29	SP7	Sp7 Transcription Factor	Protein Coding	1
30	CRTAP	Cartilage Associated Protein	Protein Coding	1
31	CREB3L1	CAMP Responsive Element Binding Protein 3 Like 1	Protein Coding	1
32	FZD1	Frizzled Class Receptor 1	Protein Coding	1
33	P4HA1	Prolyl 4-Hydroxylase Subunit Alpha 1	Protein Coding	1

Disorders associated with Type I collagen synthesis in the context of osteogenesis imperfecta SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Brittle bone disorder	Enrichment	BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, LRP5, P3H1, PLOD2, PPIB, SERPINF1, TMEM38B, WNT1	10.82
2	Osteogenesis imperfecta, type iv	Enrichment	COL1A1, COL1A2, CRTAP, FKBP10, MBTPS2, PPIB, SERPINF1, SP7, TMEM38B, WNT1	10.62
3	Osteogenesis imperfecta, type iii	Enrichment	BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, MBTPS2, P3H1, PPIB, SERPINF1, SERPINH1, WNT1	10.55
4	Osteogenesis imperfecta, type ii	Enrichment	COL1A1, COL1A2, CRTAP, P3H1, PPIB	10.41
5	Osteoporosis	Enrichment	COL1A1, COL1A2, IFITM5, LRP5, WNT1	9.88
6	Osteogenesis imperfecta, type i	Enrichment	COL1A1, COL1A2, MBTPS2, P4HB	9.33
7	High bone mass osteogenesis imperfecta	Enrichment	BMP1, COL1A1, COL1A2	7.88
8	Paget disease of bone 5, juvenile-onset	Enrichment	TNFRSF11A, TNFRSF11B	5.24
9	Bruck syndrome 1	Enrichment	COL1A2, FKBP10	5.24
10	Osteogenesis imperfecta, type xii	Enrichment	FKBP10, SP7	5.24
11	Ehlers-danlos syndrome, arthrochalasia type, 2	Enrichment	COL1A1, COL1A2	5.24
12	Ehlers-danlos/osteogenesis imperfecta syndrome	Enrichment	COL1A1, COL1A2	5.24
13	Bruck syndrome	Enrichment	FKBP10, PLOD2	5.24
14	Ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2, PLOD1	4.91
15	Cole-carpenter syndrome	Enrichment	CRTAP, P4HB	4.76
16	Ehlers-danlos syndrome, arthrochalasia type, 1	Enrichment	COL1A1, COL1A2	4.46
17	Osteogenesis imperfecta with normal sclerae, dominant form	Enrichment	COL1A1, COL1A2	4.46
18	Ehlers-danlos syndrome, classic type, 1	Enrichment	COL1A1, COL1A2	4.07
19	Keratoconus	Enrichment	COL1A1, PLOD1	4.07
20	Classic ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2	4.07
21	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	COL1A1, LOX, PLOD1	3.79
22	Primary bone dysplasia	Enrichment	COL1A1, COL1A2	3.59
23	Osteochondrodysplasia	Enrichment	COL1A1, COL1A2	3.51
24	Polycystic liver disease	Enrichment	LRP5, LRP6	3.12
25	Autosomal dominant polycystic liver disease	Enrichment	LRP5, LRP6	3.12
26	Cole-carpenter syndrome 1	Enrichment	P4HB	2.61
27	Endosteal hyperostosis, autosomal dominant	Enrichment	LRP5	2.61
28	Ehlers-danlos syndrome, cardiac valvular type	Enrichment	COL1A2	2.61
29	Olmsted syndrome, x-linked	Enrichment	MBTPS2	2.61
30	Osteogenesis imperfecta, type xix	Enrichment	MBTPS2	2.61
31	Keratosis follicularis spinulosa decalvans, x-linked	Enrichment	MBTPS2	2.61
32	Bone mineral density quantitative trait locus 1	Enrichment	LRP5	2.61
33	Exudative vitreoretinopathy 4	Enrichment	LRP5	2.61
34	Osteopetrosis, autosomal recessive 7	Enrichment	TNFRSF11A	2.61
35	Tooth agenesis, selective, 7	Enrichment	LRP6	2.61
36	Osteogenesis imperfecta, type xvi	Enrichment	CREB3L1	2.61
37	Myopia 25, autosomal dominant	Enrichment	P4HA2	2.61
38	Osteogenesis imperfecta, type x	Enrichment	SERPINH1	2.61
39	Exudative vitreoretinopathy 8	Enrichment	LRP6	2.61
40	Odontochondrodysplasia 2 with hearing loss and diabetes	Enrichment	MIA3	2.61
41	Brain small vessel disease 3	Enrichment	COLGALT1	2.61
42	Combined osteogenesis imperfecta and ehlers-danlos syndrome 2	Enrichment	COL1A2	2.61
43	Osteogenesis imperfecta, type xi	Enrichment	FKBP10	2.61
44	Osteoporosis-pseudoglioma syndrome	Enrichment	LRP5	2.61
45	Coronary artery disease, autosomal dominant 2	Enrichment	LRP6	2.61
46	Bone mineral density quantitative trait locus 16	Enrichment	WNT1	2.61
47	Polycystic liver disease 4 with or without kidney cysts	Enrichment	LRP5	2.61
48	Osteogenesis imperfecta, type xiv	Enrichment	TMEM38B	2.61
49	Cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome	Enrichment	MBTPS1	2.61
50	Omphalocele	Enrichment	PLOD1	2.61
51	Ifap syndrome	Enrichment	MBTPS2	2.61
52	Asphyxia neonatorum	Enrichment	COL1A1	2.61
53	Lrp5-related primary osteoporosis	Enrichment	LRP5	2.61
54	Bresek syndrome	Enrichment	MBTPS2	2.61
55	Osteosclerosis-developmental delay-craniosynostosis syndrome	Enrichment	LRP5	2.61
56	Spinocerebellar ataxia 29	Enrichment	ITPR1	2.31
57	Epiphyseal dysplasia, multiple, 1	Enrichment	COL1A1	2.31
58	Familial expansile osteolysis	Enrichment	TNFRSF11A	2.31
59	Van buchem disease	Enrichment	LRP5	2.31
60	Craniodiaphyseal dysplasia	Enrichment	SP7	2.31
61	Osteogenesis imperfecta, type ix	Enrichment	PPIB	2.31
62	Dermatofibrosarcoma protuberans	Enrichment	COL1A1	2.31
63	Osteogenesis imperfecta, type vii	Enrichment	CRTAP	2.31
64	Bruck syndrome 2	Enrichment	PLOD2	2.31
65	Osteogenesis imperfecta, type xv	Enrichment	WNT1	2.31
66	Osteogenesis imperfecta, type viii	Enrichment	P3H1	2.31
67	Ehlers-danlos syndrome, dermatosparaxis type	Enrichment	ADAMTS2	2.31
68	Osteogenesis imperfecta, type xiii	Enrichment	BMP1	2.31
69	Osteopetrosis, autosomal recessive 2	Enrichment	TNFSF11	2.31
70	Combined osteogenesis imperfecta and ehlers-danlos syndrome 1	Enrichment	COL1A1	2.31
71	Myopia, high, with cataract and vitreoretinal degeneration	Enrichment	P3H2	2.31
72	Osteogenesis imperfecta, type v	Enrichment	IFITM5	2.31
73	Preterm premature rupture of the membranes	Enrichment	SERPINH1	2.31
74	Stickler syndrome, type ii	Enrichment	COL1A1	2.31
75	Aortic aneurysm, familial thoracic 10	Enrichment	LOX	2.31
76	Spondyloepiphyseal dysplasia, kondo-fu type	Enrichment	MBTPS1	2.31
77	Short femur	Enrichment	PLOD2	2.31
78	Dentinogenesis imperfecta	Enrichment	COL1A2	2.31
79	Osteosclerosis	Enrichment	LRP5	2.31
80	Dysosteosclerosis	Enrichment	TNFRSF11A	2.14
81	Gillespie syndrome	Enrichment	ITPR1	2.14
82	Ifap syndrome 1, with or without bresheck syndrome	Enrichment	MBTPS2	2.14
83	Osteopetrosis, autosomal dominant 1	Enrichment	LRP5	2.14
84	Osteoporosis, juvenile	Enrichment	WNT1	2.14
85	Cleft soft palate	Enrichment	PLOD2	2.14
86	Caffey disease	Enrichment	COL1A1	2.14
87	Ehlers-danlos syndrome, kyphoscoliotic type, 1	Enrichment	PLOD1	2.14
88	Osteogenesis imperfecta, type vi	Enrichment	SERPINF1	2.14
89	Keratosis follicularis spinulosa decalvans	Enrichment	MBTPS2	2.14
90	Umbilical hernia	Enrichment	PLOD1	2.14
91	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	Enrichment	MBTPS2	2.14
92	Plod1-related kyphoscoliotic ehlers-danlos syndrome	Enrichment	PLOD1	2.14
93	Adult-onset myasthenia gravis	Enrichment	TNFRSF11A	2.14
94	Myxofibrosarcoma	Enrichment	CREB3L1	2.14
95	Phenylketonuria	Enrichment	COL1A1	2.01
96	Temporal arteritis	Enrichment	P4HA2	2.01
97	Paget disease of bone 2, early-onset	Enrichment	TNFRSF11A	2.01
98	Spinocerebellar ataxia 15	Enrichment	ITPR1	2.01
99	Chondrocalcinosis 2	Enrichment	TNFRSF11B	2.01
100	Orofacial cleft	Enrichment	LRP6	2.01
101	Retinopathy of prematurity	Enrichment	LRP5	2.01
102	Autosomal recessive osteopetrosis	Enrichment	TNFSF11	2.01
103	Paget's disease of bone 2	Enrichment	TNFRSF11A	2.01
104	Vitreoretinopathy	Enrichment	LRP5	2.01
105	Orofacial clefting syndrome	Enrichment	LRP6	2.01
106	Exudative vitreoretinopathy 1	Enrichment	LRP5	1.92
107	Brittle cornea syndrome 1	Enrichment	PLOD1	1.92
108	Rare isolated myopia	Enrichment	P3H2	1.92
109	Familial porencephaly	Enrichment	COLGALT1	1.92
110	Spinocerebellar ataxia, autosomal recessive 16	Enrichment	ITPR1	1.84
111	Orthostatic intolerance	Enrichment	PLOD1	1.71
112	Exudative vitreoretinopathy	Enrichment	LRP5	1.71
113	Familial thoracic aortic aneurysm and dissection	Enrichment	LOX	1.66
114	Cutis laxa	Enrichment	LOX	1.54
115	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	Enrichment	PLOD2	1.51
116	Clubfoot	Enrichment	PLOD2	1.51
117	Multiple sclerosis	Enrichment	ITPR1	1.47
118	Aortic aneurysm, familial thoracic 1	Enrichment	LOX	1.47
119	Hydrocephalus	Enrichment	PLOD1	1.44
120	Myopia	Enrichment	P3H2	1.44
121	Anterior segment dysgenesis	Enrichment	ITPR1	1.44
122	Tooth agenesis	Enrichment	LRP6	1.28
123	Hypertelorism	Enrichment	COL1A1	0.92
124	Spastic ataxia	Enrichment	ITPR1	0.92
125	Retinitis pigmentosa	Enrichment	P3H2	0.39
126	Hereditary retinal dystrophy	Enrichment	LRP5	0.29
127	Fundus dystrophy	Enrichment	LRP5	0.29

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

Type I collagen synthesis in the context of osteogenesis imperfecta

Pathway Network for Type I collagen synthesis in the context of osteogenesis imperfecta

Member Pathways for Type I collagen synthesis in the context of osteogenesis imperfecta

Pathways in the Type I collagen synthesis in the context of osteogenesis imperfecta SuperPath

Associated Genes for Type I collagen synthesis in the context of osteogenesis imperfecta

Associated Disorders for Type I collagen synthesis in the context of osteogenesis imperfecta

Disorders associated with Type I collagen synthesis in the context of osteogenesis imperfecta SuperPath

STRING Interaction Network for Type I collagen synthesis in the context of osteogenesis imperfecta

Sources for Type I collagen synthesis in the context of osteogenesis imperfecta