| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Johanson Blizzard syndrome | UBR1 | disease | C0175692 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Johanson Blizzard syndrome | UBR1 | disease | C0175692 | GeneticVariation | 1 | orphanet , disgenet |
| Johanson Blizzard syndrome | UBR1 | disease | C0175692 | AlteredExpression | 1 | orphanet , disgenet |
| Johanson Blizzard syndrome | UBR1 | disease | C0175692 | Biomarker | 1 | orphanet , disgenet |
| Johanson Blizzard syndrome | UBR1 | disease | C0175692 | CausalMutation | 1 | orphanet , disgenet |
| Johanson Blizzard syndrome | RPGRIP1L | disease | C0175692 | GeneticVariation | 0.01 | disgenet |
| Johanson Blizzard syndrome | TMEM67 | disease | C0175692 | Biomarker | 0.01 | disgenet |
| Johanson Blizzard syndrome | AHI1 | disease | C0175692 | GeneticVariation | 0.01 | disgenet |
| Johanson Blizzard syndrome | CC2D2A | disease | C0175692 | GeneticVariation | 0.01 | disgenet |
| Johanson Blizzard syndrome | CCND1 | disease | C0175692 | GeneticVariation | 0.01 | disgenet |
| Johanson Blizzard syndrome | NPHP1 | disease | C0175692 | GeneticVariation | 0.01 | disgenet |
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