Glycosaminoglycan-protein linkage region biosynthesis

Pathway network for the Glycosaminoglycan-protein linkage region biosynthesis SuperPath

Sources:
  • Reactome

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

Disorders associated with Glycosaminoglycan-protein linkage region biosynthesis SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Congenital disorder of glycosylation, type inDirect
2Ehlers-danlos syndromeDirect
3Heart diseaseDirect
4Larsen syndromeDirect
5Spondyloepimetaphyseal dysplasiaDirect
6Spondyloepiphyseal dysplasia with congenital joint dislocationsEnrichmentB3GALT6, B3GAT3, B4GALT76.76
7Ehlers-danlos syndrome, spondylodysplastic type, 2EnrichmentB3GALT6, B4GALT75.36
8Simpson-golabi-behmel syndrome, type 1EnrichmentGPC3, GPC44.88
9Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defectsEnrichmentB3GAT3, B4GALT74.88
10Larsen-like syndrome b3gat3 typeEnrichmentB3GAT3, B4GALT74.88
11Pseudoxanthoma elasticumEnrichmentXYLT1, XYLT24.18
12Al-gazali syndromeEnrichmentB3GALT62.67
13Ehlers-danlos syndrome, spondylodysplastic type, 1EnrichmentB4GALT72.67
14Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fracturesEnrichmentB3GALT62.67
15Keipert syndromeEnrichmentGPC42.67
16Meester-loeys syndromeEnrichmentBGN2.67
17Spondyloocular syndromeEnrichmentXYLT22.67
18Spondylodysplastic ehlers-danlos syndromeEnrichmentB4GALT72.67
19Spondyloepimetaphyseal dysplasia with joint laxityEnrichmentB3GALT62.67
20Xylt1-congenital disorder of glycosylationEnrichmentXYLT12.67
21Wagner vitreoretinopathyEnrichmentVCAN2.37
22Spondyloepimetaphyseal dysplasia, x-linkedEnrichmentBGN2.37
23Omodysplasia 1EnrichmentGPC62.37
24Corneal dystrophy, congenital stromalEnrichmentDCN2.37
25Schwartz-jampel syndrome, type 1EnrichmentHSPG22.37
26Wagner diseaseEnrichmentVCAN2.37
27Dyssegmental dysplasia, silverman-handmaker typeEnrichmentHSPG22.19
28Desbuquois dysplasia 2EnrichmentXYLT12.19
29Myasthenic syndrome, congenital, 8EnrichmentAGRN1.97
30Desbuquois dysplasia 1EnrichmentXYLT11.89
31Stickler syndromeEnrichmentVCAN1.67
32Presynaptic congenital myasthenic syndromesEnrichmentAGRN1.63
33Postsynaptic congenital myasthenic syndromesEnrichmentAGRN1.60
34Chromosome 1p36 deletion syndromeEnrichmentHSPG21.56
35Congenital myasthenic syndromeEnrichmentAGRN1.53
36Wilms tumor 1EnrichmentGPC31.50
37CraniosynostosisEnrichmentGPC41.38
38Familial thoracic aortic aneurysm and aortic dissectionEnrichmentBGN1.05
39Body mass index quantitative trait locus 11EnrichmentSDC30.99
40Hereditary retinal dystrophyEnrichmentVCAN0.33
41Fundus dystrophyEnrichmentVCAN0.33

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