Ehlers-danlos syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| EHLERS-DANLOS SYNDROME | C1R | Causal | — | CTD, Disgenet | ||
| COL1A1 | Causal | CTD, Disgenet, GWAS catalog | ||||
| COL1A2 | Causal | — | CTD, Disgenet | |||
| COL3A1 | Causal | — | CTD, Disgenet | |||
| COL5A1 | Causal | CTD, Disgenet, GWAS catalog | ||||
| COL5A2 | Causal | CTD, Disgenet, GWAS catalog | ||||
| FBN2 | Causal | — | Disgenet | |||
| PLOD1 | Causal | — | CTD, Disgenet | |||
| PRDM5 | Causal | — | CTD, Disgenet | — | ||
| SMAD3 | Causal | — | Disgenet | |||
| TGFB2 | Causal | — | Disgenet | |||
| TGFBR1 | Causal | — | Disgenet | |||
| TGFBR2 | Causal | — | Disgenet | |||
| THBS2 | Causal | — | CTD, Disgenet | |||
| TNXB | Causal | CTD, Disgenet, GWAS catalog | ||||
| ZNF469 | Causal | — | CTD, Disgenet | — | ||
| EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY | TNXB | Causal | ClinVar, GWAS catalog | |||
| EHLERS-DANLOS SYNDROME PROGEROID TYPE | B4GALT7 | Causal | — | Disgenet | ||
| EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE | COL1A1 | Causal | ClinVar, Disgenet, GWAS catalog | |||
| COL1A2 | Causal | Disgenet, GWAS catalog | ||||
| EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | COL1A2 | Causal | ClinVar, GWAS catalog, HPO | |||
| EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | COL1A2 | Causal | ClinGen, ClinVar, GWAS catalog, HPO | |||
| EHLERS-DANLOS SYNDROME, CLASSIC TYPE | COL1A1 | Causal | GWAS catalog | |||
| COL5A1 | Causal | — | ClinGen, GenCC | |||
| COL5A2 | Causal | ClinGen, GWAS catalog | ||||
| EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | COL5A1 | Causal | ClinVar, GWAS catalog, HPO | |||
| EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 | COL5A2 | Causal | — | ClinVar, GenCC, HPO | ||
| EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 | AEBP1 | Causal | — | ClinVar, GenCC, HPO | — | |
| EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 3 | THBS2 | Causal | ClinVar, Disgenet, HPO | |||
| EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE | ADAMTS2 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| EHLERS-DANLOS SYNDROME, DOMINANT TYPE 4 | COL3A1 | Causal | — | Disgenet | ||
| EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE 1 | PLOD1 | Causal | ClinVar, GWAS catalog | |||
| EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 | FKBP14 | Causal | — | CTD, ClinVar, Disgenet, GenCC, HPO | ||
| EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE | CHST14 | Causal | GWAS catalog | |||
| EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 | CHST14 | Causal | CTD, ClinVar, Disgenet | |||
| EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 | DSE | Causal | ClinGen, ClinVar, Disgenet | |||
| EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE 1 | C1R | Causal | ClinVar, GWAS catalog | |||
| EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE 2 | C1S | Causal | — | ClinVar, GenCC | ||
| EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE | SLC39A13 | Causal | ClinGen, ClinVar, Disgenet | |||
| EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 | B4GALT7 | Causal | ClinGen, ClinVar, GWAS catalog, HPO | |||
| EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 | B3GALT6 | Causal | ClinVar, Disgenet, HPO | |||
| EHLERS-DANLOS SYNDROME, TYPE 3 | COL3A1 | Causal | — | Disgenet | ||
| EHLERS-DANLOS SYNDROME, TYPE 4 |
|
COL3A1 | Causal | — | ClinVar |