Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Ectopia Lentis | FBN1 | disease | C0013581 | GeneticVariation | 0.7 | orphanet , disgenet |
Ectopia Lentis | FBN1 | disease | C0013581 | Biomarker | 0.7 | orphanet , disgenet |
Ectopia Lentis | FBN1 | disease | C0013581 | CausalMutation | 0.7 | orphanet , disgenet |
Ectopia Lentis | FBN1 | disease | C0013581 | GermlineCausalMutation | 0.7 | orphanet , disgenet |
Ectopia Lentis | ADAMTSL4 | disease | C0013581 | Biomarker | 0.48 | disgenet |
Ectopia Lentis | ADAMTSL4 | disease | C0013581 | CausalMutation | 0.48 | disgenet |
Ectopia Lentis | ADAMTSL4 | disease | C0013581 | GermlineCausalMutation | 0.48 | disgenet |
Ectopia Lentis | ADAMTSL4 | disease | C0013581 | GeneticVariation | 0.48 | disgenet |
Ectopia Lentis | LTBP2 | disease | C0013581 | GeneticVariation | 0.15 | orphanet , disgenet |
Ectopia Lentis | LTBP2 | disease | C0013581 | Biomarker | 0.15 | orphanet , disgenet |
Ectopia Lentis | ADAMTS17 | disease | C0013581 | Biomarker | 0.11 | disgenet |
Ectopia Lentis | FBN2 | disease | C0013581 | Biomarker | 0.11 | disgenet |
Ectopia Lentis | ASPH | disease | C0013581 | Biomarker | 0.11 | disgenet |
Ectopia Lentis | ADAMTS10 | disease | C0013581 | Biomarker | 0.11 | disgenet |
Ectopia Lentis | ADAMTS10 | disease | C0013581 | GeneticVariation | 0.11 | disgenet |
Ectopia Lentis | ADAMTS17 | disease | C0013581 | GeneticVariation | 0.11 | disgenet |
Ectopia Lentis | COL2A1 | disease | C0013581 | Biomarker | 0.1 | disgenet |
Ectopia Lentis | HSPG2 | disease | C0013581 | Biomarker | 0.1 | disgenet |
Ectopia Lentis | SUOX | disease | C0013581 | Biomarker | 0.1 | disgenet |
Ectopia Lentis | BCOR | disease | C0013581 | Biomarker | 0.1 | disgenet |
Ectopia Lentis | COL5A2 | disease | C0013581 | Biomarker | 0.1 | disgenet |
Ectopia Lentis | PORCN | disease | C0013581 | Biomarker | 0.1 | disgenet |
Ectopia Lentis | COL18A1 | disease | C0013581 | Biomarker | 0.1 | disgenet |
Ectopia Lentis | FOXE3 | disease | C0013581 | Biomarker | 0.1 | disgenet |
Ectopia Lentis | CPAMD8 | disease | C0013581 | Biomarker | 0.1 | disgenet |
Ectopia Lentis | CBS | disease | C0013581 | Biomarker | 0.1 | disgenet |
Ectopia Lentis | MOCS2 | disease | C0013581 | Biomarker | 0.1 | disgenet |
Ectopia Lentis | COL5A1 | disease | C0013581 | Biomarker | 0.1 | disgenet |
Ectopia Lentis | AASS | disease | C0013581 | Biomarker | 0.1 | disgenet |
Ectopia Lentis | COL1A1 | disease | C0013581 | Biomarker | 0.1 | disgenet |
Ectopia Lentis | COL11A1 | disease | C0013581 | Biomarker | 0.1 | disgenet |
Ectopia Lentis | TAP2 | disease | C0013581 | Biomarker | 0.1 | disgenet |
Ectopia Lentis | ADAMTSL4-AS2 | disease | C0013581 | CausalMutation | 0.1 | disgenet |
Ectopia Lentis | EXOC6B | disease | C0013581 | Biomarker | 0.1 | disgenet |
Ectopia Lentis | B3GALT6 | disease | C0013581 | Biomarker | 0.1 | disgenet |
Ectopia Lentis | NDP | disease | C0013581 | Biomarker | 0.1 | disgenet |
Ectopia Lentis | TAPBP | disease | C0013581 | Biomarker | 0.1 | disgenet |
Ectopia Lentis | TAP1 | disease | C0013581 | Biomarker | 0.1 | disgenet |
Ectopia Lentis | EGF | disease | C0013581 | Biomarker | 0.02 | disgenet |
Ectopia Lentis | EGF | disease | C0013581 | GeneticVariation | 0.02 | disgenet |
Ectopia Lentis | OAF | disease | C0013581 | Biomarker | 0.01 | disgenet |
Ectopia Lentis | TGFB2 | disease | C0013581 | AlteredExpression | 0.01 | disgenet |
Ectopia Lentis | P3H2 | disease | C0013581 | GeneticVariation | 0.01 | disgenet |
Ectopia Lentis | NECTIN1 | disease | C0013581 | Biomarker | 0.01 | disgenet |
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