Glycosaminoglycan synthesis in fibroblasts

No Pathway Network information available for Glycosaminoglycan synthesis in fibroblasts

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

Disorders associated with Glycosaminoglycan synthesis in fibroblasts SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Spondyloepiphyseal dysplasia with congenital joint dislocationsEnrichmentB3GALT6, B3GAT3, B4GALT7, CHST38.96
2Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defectsEnrichmentB3GAT3, B4GALT7, CHST37.59
3Larsen-like syndrome b3gat3 typeEnrichmentB3GAT3, B4GALT7, CHST37.59
4Exostoses, multiple, type iEnrichmentEXT1, EXT25.05
5Ehlers-danlos syndrome, spondylodysplastic type, 2EnrichmentB3GALT6, B4GALT75.05
6Musculocontractural ehlers-danlos syndromeEnrichmentCHST14, DSE4.57
7Desbuquois dysplasia 1EnrichmentCSGALNACT1, XYLT13.88
8Pseudoxanthoma elasticumEnrichmentXYLT1, XYLT23.88
9Osteochondrodysplasia, brachydactyly, and overlapping malformed digitsEnrichmentCHST113.23
10Larsen syndromeEnrichmentCHST32.75
11ChondrosarcomaEnrichmentEXT12.52
12Al-gazali syndromeEnrichmentB3GALT62.52
13Ehlers-danlos syndrome, musculocontractural type, 2EnrichmentDSE2.52
14Ehlers-danlos syndrome, spondylodysplastic type, 1EnrichmentB4GALT72.52
15Neurofacioskeletal syndrome with or without renal agenesisEnrichmentHS2ST12.52
16Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fracturesEnrichmentB3GALT62.52
17Intellectual developmental disorder, autosomal recessive 46EnrichmentNDST12.52
18Immunoskeletal dysplasia with neurodevelopmental abnormalitiesEnrichmentEXTL32.52
19Paganini-miozzo syndromeEnrichmentHS6ST22.52
20Spondyloocular syndromeEnrichmentXYLT22.52
21Hypogonadotropic hypogonadism 15 with or without anosmiaEnrichmentHS6ST12.52
22Hereditary multiple osteochondromasEnrichmentEXT12.52
23Skeletal dysplasia, mild, with joint laxity and advanced bone ageEnrichmentCSGALNACT12.52
24ExostosisEnrichmentEXT12.52
25ArteriosclerosisEnrichmentHS3ST12.52
26Spondylodysplastic ehlers-danlos syndromeEnrichmentB4GALT72.52
27Spondyloepimetaphyseal dysplasia with joint laxityEnrichmentB3GALT62.52
28Hereditary multiple exostosesEnrichmentEXT12.52
29Xylt1-congenital disorder of glycosylationEnrichmentXYLT12.52
30Skeletal dysplasia-t-cell immunodeficiency-developmental delay syndromeEnrichmentEXTL32.52
31Exostoses, multiple, type iiEnrichmentEXT22.22
32Ehlers-danlos syndrome, musculocontractural type, 1EnrichmentCHST142.22
33Seizures, scoliosis, and macrocephaly/microcephaly syndromeEnrichmentEXT22.22
34Temtamy preaxial brachydactyly syndromeEnrichmentCHSY12.22
35Sudden infant death with dysgenesis of the testes syndromeEnrichmentDSE2.04
36Desbuquois dysplasia 2EnrichmentXYLT12.04
37Trichorhinophalangeal syndrome, type iiEnrichmentEXT11.92
38Potocki-shaffer syndromeEnrichmentEXT21.92
39Coronary artery anomalyEnrichmentHS3ST11.92
40Ovarian cancerEnrichmentEXT1, EXT21.43
41Normosmic congenital hypogonadotropic hypogonadismEnrichmentHS6ST11.28
42HepatoblastomaEnrichmentEXT21.21
43Kallmann syndromeEnrichmentHS6ST11.17
44Autosomal recessive non-syndromic intellectual disabilityEnrichmentNDST10.79
45Complex neurodevelopmental disorderEnrichmentHS2ST10.50
46Inherited cancer-predisposing syndromeEnrichmentEXT20.48

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