| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive | ADAMTS2 | disease | C2700425 | GermlineCausalMutation | 0.76 | orphanet , disgenet |
| Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive | ADAMTS2 | disease | C2700425 | CausalMutation | 0.76 | orphanet , disgenet |
| Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive | ADAMTS2 | disease | C2700425 | Biomarker | 0.76 | orphanet , disgenet |
| Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive | ADAMTS2 | disease | C2700425 | AlteredExpression | 0.76 | orphanet , disgenet |
| Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive | ADAMTS2 | disease | C2700425 | GeneticVariation | 0.76 | orphanet , disgenet |
| Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive | ADAMTS4 | disease | C2700425 | GeneticVariation | 0.02 | disgenet |
| Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive | ADAMTS4 | disease | C2700425 | Biomarker | 0.02 | disgenet |
| Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive | ADAMTS14 | disease | C2700425 | AlteredExpression | 0.01 | disgenet |
| Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive | COL1A2 | disease | C2700425 | Biomarker | 0.01 | disgenet |
| Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive | ADAMTS3 | disease | C2700425 | Biomarker | 0.01 | disgenet |
| Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive | ADAMTSL2 | NA | C2700425 | NA | NA | orphanet |
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