| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Snowflake vitreoretinal degeneration | KCNJ13 | disease | C1860405 | CausalMutation | 0.78 | orphanet , disgenet |
| Snowflake vitreoretinal degeneration | KCNJ13 | disease | C1860405 | GeneticVariation | 0.78 | orphanet , disgenet |
| Snowflake vitreoretinal degeneration | KCNJ13 | disease | C1860405 | Biomarker | 0.78 | orphanet , disgenet |
| Snowflake vitreoretinal degeneration | KCNJ13 | disease | C1860405 | GermlineCausalMutation | 0.78 | orphanet , disgenet |
| Snowflake vitreoretinal degeneration | GIGYF2 | disease | C1860405 | CausalMutation | 0.1 | disgenet |
| Snowflake vitreoretinal degeneration | IL1RN | disease | C1860405 | Biomarker | 0.03 | disgenet |
| Snowflake vitreoretinal degeneration | IL1RN | disease | C1860405 | GeneticVariation | 0.03 | disgenet |
| Snowflake vitreoretinal degeneration | NEFL | disease | C1860405 | Biomarker | 0.01 | disgenet |
| Snowflake vitreoretinal degeneration | TGFB1 | disease | C1860405 | Biomarker | 0.01 | disgenet |
| Snowflake vitreoretinal degeneration | SERPINA5 | disease | C1860405 | Biomarker | 0.01 | disgenet |
| Snowflake vitreoretinal degeneration | IL1B | disease | C1860405 | GeneticVariation | 0.01 | disgenet |
| Snowflake vitreoretinal degeneration | COL2A1 | disease | C1860405 | Biomarker | 0.01 | disgenet |
| Snowflake vitreoretinal degeneration | CAPN10 | disease | C1860405 | GeneticVariation | 0.01 | disgenet |
| Snowflake vitreoretinal degeneration | VCAN | disease | C1860405 | GeneticVariation | 0.01 | disgenet |
| Snowflake vitreoretinal degeneration | KDR | disease | C1860405 | Biomarker | 0.01 | disgenet |
| Snowflake vitreoretinal degeneration | IL1R1 | disease | C1860405 | GeneticVariation | 0.01 | disgenet |
| Snowflake vitreoretinal degeneration | GDF2 | disease | C1860405 | Biomarker | 0.01 | disgenet |
| Snowflake vitreoretinal degeneration | HTRA1 | disease | C1860405 | Biomarker | 0.01 | disgenet |
| Snowflake vitreoretinal degeneration | CYP2J2 | disease | C1860405 | GeneticVariation | 0.01 | disgenet |
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