EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    2.8.2.35 | Clubfoot |
20842734 |
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene. |
unassigned |
0 |
| 2.8.2.35 | Clubfoot |
26646600 |
CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome. |
causal interaction
unassigned |
4
0 |
| 2.8.2.35 | Congenital Abnormalities |
26646600 |
CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome. |
causal interaction
unassigned |
4
0 |
| 2.8.2.35 | Congenital Abnormalities |
28238810 |
Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency. |
causal interaction
unassigned |
4
0 |
| 2.8.2.35 | Congenital Disorders of Glycosylation |
20807649 |
Congenital disorders of glycosylation with emphasis on loss of dermatan-4-sulfotransferase. |
ongoing research
unassigned |
3
0 |
| 2.8.2.35 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
20807649 |
Congenital disorders of glycosylation with emphasis on loss of dermatan-4-sulfotransferase. |
ongoing research
unassigned |
3
0 |
| 2.8.2.35 | Contracture |
25703627 |
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis. |
unassigned |
0 |
| 2.8.2.35 | Contracture |
26646600 |
CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome. |
causal interaction
unassigned |
4
0 |
| 2.8.2.35 | Craniofacial Abnormalities |
25703627 |
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis. |
unassigned |
0 |
| 2.8.2.35 | dermatan 4-sulfotransferase deficiency |
21744491 |
Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
3
3
1
0 |
