Defective B3GALTL causes PpS

Pathway network for the Defective B3GALTL causes PpS SuperPath

Sources:

Reactome

Pathways in the Defective B3GALTL causes PpS SuperPath

#	Name	Source	Genes
1	Defective B3GALTL causes PpS	Reactome	ADAMTS1 ADAMTS10 ADAMTS12 ADAMTS13 ADAMTS14 ADAMTS15 ADAMTS16 ADAMTS17 ADAMTS18 ADAMTS19 ADAMTS2 ADAMTS20 ADAMTS3 ADAMTS4 ADAMTS5 ADAMTS6 ADAMTS7 ADAMTS8 ADAMTS9 ADAMTSL1 ADAMTSL2 ADAMTSL3 ADAMTSL4 ADAMTSL5 B3GLCT CFP SBSPON SEMA5A SEMA5B SPON1 SPON2 THBS1 THBS2 THSD1 THSD4 THSD7A THSD7B (see all 37) (see less)
2	Diseases associated with O-glycosylation of proteins	Reactome	ADAMTS1 ADAMTS10 ADAMTS12 ADAMTS13 ADAMTS14 ADAMTS15 ADAMTS16 ADAMTS17 ADAMTS18 ADAMTS19 ADAMTS2 ADAMTS20 ADAMTS3 ADAMTS4 ADAMTS5 ADAMTS6 ADAMTS7 ADAMTS8 ADAMTS9 ADAMTSL1 ADAMTSL2 ADAMTSL3 ADAMTSL4 ADAMTSL5 B3GLCT B4GAT1 C1GALT1 C1GALT1C1 CFP DAG1 GALNT12 GALNT3 LARGE1 LFNG MUC1 MUC12 MUC13 MUC15 MUC16 MUC17 MUC19 MUC2 MUC20 MUC21 MUC3A MUC4 MUC5AC MUC5B MUC6 MUC7 MUCL1 NOTCH1 NOTCH2 NOTCH3 NOTCH4 POMGNT1 POMT1 POMT2 SBSPON SEMA5A SEMA5B SPON1 SPON2 THBS1 THBS2 THSD1 THSD4 THSD7A THSD7B (see all 69) (see less)
3	O-glycosylation of TSR domain-containing proteins	Reactome	ADAMTS1 ADAMTS10 ADAMTS12 ADAMTS13 ADAMTS14 ADAMTS15 ADAMTS16 ADAMTS17 ADAMTS18 ADAMTS19 ADAMTS2 ADAMTS20 ADAMTS3 ADAMTS4 ADAMTS5 ADAMTS6 ADAMTS7 ADAMTS8 ADAMTS9 ADAMTSL1 ADAMTSL2 ADAMTSL3 ADAMTSL4 ADAMTSL5 B3GLCT CFP POFUT2 SBSPON SEMA5A SEMA5B SPON1 SPON2 THBS1 THBS2 THSD1 THSD4 THSD7A THSD7B (see all 38) (see less)

Gene overlap in member pathways for Defective B3GALTL causes PpS SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	SPON2	Spondin 2	Protein Coding	3
2	SPON1	Spondin 1	Protein Coding	3
3	ADAMTS13	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 13	Protein Coding	3
4	ADAMTS8	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 8	Protein Coding	3
5	ADAMTS5	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 5	Protein Coding	3
6	ADAMTS7	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 7	Protein Coding	3
7	ADAMTS6	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 6	Protein Coding	3
8	ADAMTS14	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 14	Protein Coding	3
9	B3GLCT	Beta 3-Glucosyltransferase	Protein Coding	3
10	SBSPON	Somatomedin B And Thrombospondin Type 1 Domain Containing	Protein Coding	3
11	ADAMTS15	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 15	Protein Coding	3
12	ADAMTS16	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 16	Protein Coding	3
13	ADAMTS17	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 17	Protein Coding	3
14	ADAMTS18	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 18	Protein Coding	3
15	ADAMTS19	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 19	Protein Coding	3
16	THSD7A	Thrombospondin Type 1 Domain Containing 7A	Protein Coding	3
17	ADAMTSL5	ADAMTS Like 5	Protein Coding	3
18	CFP	Complement Factor Properdin	Protein Coding	3
19	SEMA5B	Semaphorin 5B	Protein Coding	3
20	ADAMTSL4	ADAMTS Like 4	Protein Coding	3
21	THSD1	Thrombospondin Type 1 Domain Containing 1	Protein Coding	3
22	ADAMTS9	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 9	Protein Coding	3
23	ADAMTSL3	ADAMTS Like 3	Protein Coding	3
24	THBS1	Thrombospondin 1	Protein Coding	3
25	THBS2	Thrombospondin 2	Protein Coding	3
26	THSD4	Thrombospondin Type 1 Domain Containing 4	Protein Coding	3
27	ADAMTS20	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 20	Protein Coding	3
28	THSD7B	Thrombospondin Type 1 Domain Containing 7B	Protein Coding	3
29	ADAMTS12	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 12	Protein Coding	3
30	ADAMTS10	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 10	Protein Coding	3
31	SEMA5A	Semaphorin 5A	Protein Coding	3
32	ADAMTSL1	ADAMTS Like 1	Protein Coding	3
33	ADAMTS4	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 4	Protein Coding	3
34	ADAMTS3	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 3	Protein Coding	3
35	ADAMTS2	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 2	Protein Coding	3
36	ADAMTS1	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 1	Protein Coding	3
37	ADAMTSL2	ADAMTS Like 2	Protein Coding	3
38	MUC12	Mucin 12, Cell Surface Associated	Protein Coding	1
39	POMT1	Protein O-Mannosyltransferase 1	Protein Coding	1
40	B4GAT1	Beta-1,4-Glucuronyltransferase 1	Protein Coding	1
41	MUCL1	Mucin Like 1	Protein Coding	1
42	MUC17	Mucin 17, Cell Surface Associated	Protein Coding	1
43	MUC15	Mucin 15, Cell Surface Associated	Protein Coding	1
44	DAG1	Dystroglycan 1	Protein Coding	1
45	MUC20	Mucin 20, Cell Surface Associated	Protein Coding	1
46	GALNT3	Polypeptide N-Acetylgalactosaminyltransferase 3	Protein Coding	1
47	MUC19	Mucin 19, Oligomeric (Gene/Pseudogene)	Protein Coding	1
48	C1GALT1C1	C1GALT1 Specific Chaperone 1	Protein Coding	1
49	POMT2	Protein O-Mannosyltransferase 2	Protein Coding	1
50	MUC21	Mucin 21, Cell Surface Associated	Protein Coding	1
51	LFNG	LFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase	Protein Coding	1
52	MUC1	Mucin 1, Cell Surface Associated	Protein Coding	1
53	MUC2	Mucin 2, Oligomeric Mucus/Gel-Forming	Protein Coding	1
54	MUC3A	Mucin 3A, Cell Surface Associated	Protein Coding	1
55	MUC4	Mucin 4, Cell Surface Associated	Protein Coding	1
56	MUC5AC	Mucin 5AC, Oligomeric Mucus/Gel-Forming	Protein Coding	1
57	MUC6	Mucin 6, Oligomeric Mucus/Gel-Forming (Gene/Pseudogene)	Protein Coding	1
58	MUC7	Mucin 7, Secreted	Protein Coding	1
59	NOTCH1	Notch Receptor 1	Protein Coding	1
60	NOTCH2	Notch Receptor 2	Protein Coding	1
61	NOTCH3	Notch Receptor 3	Protein Coding	1
62	NOTCH4	Notch Receptor 4	Protein Coding	1
63	POMGNT1	Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)	Protein Coding	1
64	MUC13	Mucin 13, Cell Surface Associated	Protein Coding	1
65	C1GALT1	Core 1 Synthase, Glycoprotein-N-Acetylgalactosamine 3-Beta-Galactosyltransferase 1	Protein Coding	1
66	MUC5B	Mucin 5B, Oligomeric Mucus/Gel-Forming	Protein Coding	1
67	GALNT12	Polypeptide N-Acetylgalactosaminyltransferase 12	Protein Coding	1
68	LARGE1	LARGE Xylosyl- And Glucuronyltransferase 1	Protein Coding	1
69	MUC16	Mucin 16, Cell Surface Associated	Protein Coding	1
70	POFUT2	Protein O-Fucosyltransferase 2	Protein Coding	1

Disorders associated with Defective B3GALTL causes PpS SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Eye disease	Direct
2	Orofacial cleft	Direct
3	Congenital disorder of glycosylation, type in	Direct
4	Ehlers-danlos syndrome, dermatosparaxis type	Enrichment	ADAMTS2, ADAMTSL2	5.12
5	Weill-marchesani syndrome	Enrichment	ADAMTS10, ADAMTS17	4.34
6	Primary ovarian insufficiency	Enrichment	ADAMTS1, ADAMTS6, THBS1	3.23
7	Geleophysic dysplasia 1	Enrichment	ADAMTSL2	2.55
8	Lethal short-limb skeletal dysplasia, al gazali type	Enrichment	ADAMTSL2	2.55
9	Microcornea, myopic chorioretinal atrophy, and telecanthus	Enrichment	ADAMTS18	2.55
10	Hennekam lymphangiectasia-lymphedema syndrome 3	Enrichment	ADAMTS3	2.55
11	Properdin deficiency, x-linked	Enrichment	CFP	2.55
12	Aortic aneurysm, familial thoracic 12	Enrichment	THSD4	2.55
13	Arthrogryposis, distal, type 12	Enrichment	ADAMTS15	2.55
14	Lymphatic malformation 13	Enrichment	THSD1	2.55
15	Aneurysm, intracranial berry, 12	Enrichment	THSD1	2.55
16	Cardiac valvular dysplasia 2	Enrichment	ADAMTS19	2.55
17	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	Enrichment	ADAMTSL1	2.55
18	Cri-du-chat syndrome	Enrichment	SEMA5A	2.25
19	Ectopia lentis et pupillae	Enrichment	ADAMTSL4	2.25
20	Craniosynostosis with ectopia lentis	Enrichment	ADAMTSL4	2.25
21	Thrombotic thrombocytopenic purpura, hereditary	Enrichment	ADAMTS13	2.25
22	Ectopia lentis 2, isolated, autosomal recessive	Enrichment	ADAMTSL4	2.25
23	Thrombotic thrombocytopenic purpura	Enrichment	ADAMTS13	2.25
24	Weill-marchesani syndrome 4	Enrichment	ADAMTS17	2.08
25	Ehlers-danlos syndrome, classic-like, 3	Enrichment	THBS2	2.08
26	Weill-marchesani syndrome 1	Enrichment	ADAMTS10	2.08
27	Isolated ectopia lentis	Enrichment	ADAMTSL4	2.08
28	Hennekam syndrome	Enrichment	ADAMTS3	2.08
29	Geleophysic dysplasia	Enrichment	ADAMTSL2	2.08
30	Familial cerebral saccular aneurysm	Enrichment	THSD1	1.86
31	46,xy disorder of sex development	Enrichment	ADAMTS16	1.78
32	Intervertebral disc disease	Enrichment	THBS2	1.71
33	Peters-plus syndrome	Enrichment	B3GLCT	1.56
34	Anterior segment dysgenesis	Enrichment	ADAMTS17	1.38
35	Atypical hemolytic-uremic syndrome	Enrichment	ADAMTS13	1.38
36	Ehlers-danlos syndrome	Enrichment	THBS2	1.28
37	Non-immune hydrops fetalis	Enrichment	THSD1	1.08
38	Nephronophthisis	Enrichment	ADAMTS9	1.05
39	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	THSD4	0.93
40	Thrombocytopenia	Enrichment	ADAMTS13	0.90

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

Defective B3GALTL causes PpS

Pathway Network for Defective B3GALTL causes PpS

Pathway network for the Defective B3GALTL causes PpS SuperPath

Member Pathways for Defective B3GALTL causes PpS

Pathways in the Defective B3GALTL causes PpS SuperPath

Gene overlap in member pathways for Defective B3GALTL causes PpS SuperPath

Associated Genes for Defective B3GALTL causes PpS

Associated Disorders for Defective B3GALTL causes PpS

Disorders associated with Defective B3GALTL causes PpS SuperPath

STRING Interaction Network for Defective B3GALTL causes PpS

Sources for Defective B3GALTL causes PpS