| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Stickler syndrome, type 1 | COL2A1 | disease | C2020284 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Stickler syndrome, type 1 | COL2A1 | disease | C2020284 | CausalMutation | 0.8 | orphanet , disgenet |
| Stickler syndrome, type 1 | COL2A1 | disease | C2020284 | Biomarker | 0.8 | orphanet , disgenet |
| Stickler syndrome, type 1 | COL2A1 | disease | C2020284 | GeneticVariation | 0.8 | orphanet , disgenet |
| Stickler syndrome, type 1 | COL11A1 | disease | C2020284 | GeneticVariation | 0.6 | orphanet , disgenet |
| Stickler syndrome, type 1 | COL11A1 | disease | C2020284 | Biomarker | 0.6 | orphanet , disgenet |
| Stickler syndrome, type 1 | COL9A3 | disease | C2020284 | Biomarker | 0.33 | orphanet , disgenet |
| Stickler syndrome, type 1 | COL9A3 | disease | C2020284 | GeneticVariation | 0.33 | orphanet , disgenet |
| Stickler syndrome, type 1 | LOXL3 | disease | C2020284 | Biomarker | 0.33 | orphanet , disgenet |
| Stickler syndrome, type 1 | LOXL3 | disease | C2020284 | GeneticVariation | 0.33 | orphanet , disgenet |
| Stickler syndrome, type 1 | COL9A2 | disease | C2020284 | Biomarker | 0.32 | orphanet , disgenet |
| Stickler syndrome, type 1 | COL9A2 | disease | C2020284 | GeneticVariation | 0.32 | orphanet , disgenet |
| Stickler syndrome, type 1 | COL11A2 | disease | C2020284 | Biomarker | 0.3 | disgenet |
| Stickler syndrome, type 1 | COL11A2 | disease | C2020284 | GeneticVariation | 0.3 | disgenet |
| Stickler syndrome, type 1 | COL9A1 | disease | C2020284 | GeneticVariation | 0.05 | orphanet , disgenet |
| Stickler syndrome, type 1 | COL9A1 | disease | C2020284 | Biomarker | 0.05 | orphanet , disgenet |
| Stickler syndrome, type 1 | BMP4 | disease | C2020284 | GeneticVariation | 0.01 | disgenet |
| Stickler syndrome, type 1 | MLH1 | disease | C2020284 | Biomarker | 0.01 | disgenet |
| Stickler syndrome, type 1 | CEACAM5 | disease | C2020284 | AlteredExpression | 0.01 | disgenet |
| Stickler syndrome, type 1 | PTGS2 | disease | C2020284 | Biomarker | 0.01 | disgenet |
| Stickler syndrome, type 1 | COX2 | disease | C2020284 | Biomarker | 0.01 | disgenet |
| Stickler syndrome, type 1 | CEACAM6 | disease | C2020284 | AlteredExpression | 0.01 | disgenet |
| Stickler syndrome, type 1 | PLXNA2 | disease | C2020284 | Biomarker | 0.01 | disgenet |
| Stickler syndrome, type 1 | CNR1 | disease | C2020284 | AlteredExpression | 0.01 | disgenet |
| Stickler syndrome, type 1 | CXCR4 | disease | C2020284 | Biomarker | 0.01 | disgenet |
| Stickler syndrome, type 1 | THBS1 | disease | C2020284 | Biomarker | 0.01 | disgenet |
| Stickler syndrome, type 1 | FJX1 | disease | C2020284 | Biomarker | 0.01 | disgenet |
| Stickler syndrome, type 1 | ZAP70 | disease | C2020284 | GeneticVariation | 0.01 | disgenet |
| Stickler syndrome, type 1 | SULT2A1 | disease | C2020284 | GeneticVariation | 0.01 | disgenet |
| Stickler syndrome, type 1 | WRN | disease | C2020284 | GeneticVariation | 0.01 | disgenet |
| Stickler syndrome, type 1 | MTCO2P12 | disease | C2020284 | Biomarker | 0.01 | disgenet |
| Stickler syndrome, type 1 | MYP10 | disease | C2020284 | Biomarker | 0.01 | disgenet |
| Stickler syndrome, type 1 | CTNNB1 | disease | C2020284 | AlteredExpression | 0.01 | disgenet |
| Stickler syndrome, type 1 | LRP2 | disease | C2020284 | GeneticVariation | 0.01 | disgenet |
| Stickler syndrome, type 1 | RPS6KA3 | disease | C2020284 | GeneticVariation | 0.01 | disgenet |
| Stickler syndrome, type 1 | TECTA | disease | C2020284 | Biomarker | 0.01 | disgenet |
| Stickler syndrome, type 1 | KLF4 | disease | C2020284 | Biomarker | 0.01 | disgenet |
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