| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Anemia, Diamond Blackfan | RPS19 | disease | C1260899 | GeneticVariation | 0.7 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPS19 | disease | C1260899 | AlteredExpression | 0.7 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPS19 | disease | C1260899 | Biomarker | 0.7 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPS19 | disease | C1260899 | CausalMutation | 0.7 | orphanet , disgenet |
| Anemia, Diamond Blackfan | GATA1 | disease | C1260899 | Biomarker | 0.7 | orphanet , disgenet |
| Anemia, Diamond Blackfan | GATA1 | disease | C1260899 | GermlineCausalMutation | 0.7 | orphanet , disgenet |
| Anemia, Diamond Blackfan | GATA1 | disease | C1260899 | GeneticVariation | 0.7 | orphanet , disgenet |
| Anemia, Diamond Blackfan | GATA1 | disease | C1260899 | AlteredExpression | 0.7 | orphanet , disgenet |
| Anemia, Diamond Blackfan | GATA1 | disease | C1260899 | CausalMutation | 0.7 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPS24 | disease | C1260899 | GeneticVariation | 0.69 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPS24 | disease | C1260899 | Biomarker | 0.69 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPS24 | disease | C1260899 | CausalMutation | 0.69 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPS17 | disease | C1260899 | GeneticVariation | 0.68 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPS17 | disease | C1260899 | Biomarker | 0.68 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPS17 | disease | C1260899 | CausalMutation | 0.68 | orphanet , disgenet |
| Anemia, Diamond Blackfan | ADA2 | disease | C1260899 | Biomarker | 0.61 | orphanet , disgenet |
| Anemia, Diamond Blackfan | ADA2 | disease | C1260899 | GermlineCausalMutation | 0.61 | orphanet , disgenet |
| Anemia, Diamond Blackfan | ADA2 | disease | C1260899 | CausalMutation | 0.61 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPL26 | disease | C1260899 | AlteredExpression | 0.51 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPL27 | disease | C1260899 | Biomarker | 0.51 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPL15 | disease | C1260899 | Biomarker | 0.51 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPL15 | disease | C1260899 | GermlineCausalMutation | 0.51 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPL26 | disease | C1260899 | Biomarker | 0.51 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPL26 | disease | C1260899 | GermlineCausalMutation | 0.51 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPS27 | disease | C1260899 | GeneticVariation | 0.51 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPL27 | disease | C1260899 | GeneticVariation | 0.51 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPS27 | disease | C1260899 | Biomarker | 0.51 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPS29 | disease | C1260899 | Biomarker | 0.51 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPS29 | disease | C1260899 | GeneticVariation | 0.51 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPS29 | disease | C1260899 | GermlineCausalMutation | 0.51 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPL11 | disease | C1260899 | CausalMutation | 0.5 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPL11 | disease | C1260899 | Biomarker | 0.5 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPS28 | disease | C1260899 | Biomarker | 0.5 | orphanet , disgenet |
| Anemia, Diamond Blackfan | TSR2 | disease | C1260899 | Biomarker | 0.5 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPL5 | disease | C1260899 | Biomarker | 0.5 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPL11 | disease | C1260899 | GeneticVariation | 0.5 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPS28 | disease | C1260899 | GermlineCausalMutation | 0.5 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPL5 | disease | C1260899 | CausalMutation | 0.5 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPL35 | disease | C1260899 | Biomarker | 0.5 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPL18 | disease | C1260899 | GermlineCausalMutation | 0.5 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPL35 | disease | C1260899 | GermlineCausalMutation | 0.5 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPL5 | disease | C1260899 | GeneticVariation | 0.5 | orphanet , disgenet |
| Anemia, Diamond Blackfan | TSR2 | disease | C1260899 | GermlineCausalMutation | 0.5 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPL18 | disease | C1260899 | Biomarker | 0.5 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPL35A | disease | C1260899 | GeneticVariation | 0.47 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPL35A | disease | C1260899 | Biomarker | 0.47 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPL35A | disease | C1260899 | CausalMutation | 0.47 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPS7 | disease | C1260899 | CausalMutation | 0.45 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPS7 | disease | C1260899 | Biomarker | 0.45 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPS7 | disease | C1260899 | GeneticVariation | 0.45 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPS26 | disease | C1260899 | Biomarker | 0.36 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPS26 | disease | C1260899 | GeneticVariation | 0.36 | orphanet , disgenet |
| Anemia, Diamond Blackfan | EPO | disease | C1260899 | AlteredExpression | 0.34 | disgenet |
| Anemia, Diamond Blackfan | EPO | disease | C1260899 | Biomarker | 0.34 | disgenet |
| Anemia, Diamond Blackfan | RPS10 | disease | C1260899 | GeneticVariation | 0.33 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPS10 | disease | C1260899 | Biomarker | 0.33 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPL9 | disease | C1260899 | Biomarker | 0.31 | disgenet |
| Anemia, Diamond Blackfan | RPL9 | disease | C1260899 | GeneticVariation | 0.31 | disgenet |
| Anemia, Diamond Blackfan | RPL31 | disease | C1260899 | Biomarker | 0.31 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPS15A | disease | C1260899 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Anemia, Diamond Blackfan | RPL23 | disease | C1260899 | Biomarker | 0.3 | disgenet |
| Anemia, Diamond Blackfan | RPL36 | disease | C1260899 | Biomarker | 0.3 | disgenet |
| Anemia, Diamond Blackfan | RPL13 | disease | C1260899 | Biomarker | 0.3 | disgenet |
| Anemia, Diamond Blackfan | RPS27A | disease | C1260899 | Biomarker | 0.3 | disgenet |
| Anemia, Diamond Blackfan | RPS15 | disease | C1260899 | Biomarker | 0.3 | disgenet |
| Anemia, Diamond Blackfan | RPL19 | disease | C1260899 | Biomarker | 0.3 | disgenet |
| Anemia, Diamond Blackfan | FLVCR1 | disease | C1260899 | AlteredExpression | 0.23 | disgenet |
| Anemia, Diamond Blackfan | FLVCR1 | disease | C1260899 | Biomarker | 0.23 | disgenet |
| Anemia, Diamond Blackfan | TP53 | disease | C1260899 | Biomarker | 0.2 | disgenet |
| Anemia, Diamond Blackfan | TP53 | disease | C1260899 | AlteredExpression | 0.2 | disgenet |
| Anemia, Diamond Blackfan | TP53 | disease | C1260899 | CausalMutation | 0.2 | disgenet |
| Anemia, Diamond Blackfan | RPSA | disease | C1260899 | Biomarker | 0.2 | disgenet |
| Anemia, Diamond Blackfan | DIPK1A | disease | C1260899 | CausalMutation | 0.1 | disgenet |
| Anemia, Diamond Blackfan | IQCG | disease | C1260899 | CausalMutation | 0.1 | disgenet |
| Anemia, Diamond Blackfan | DIPK1A | disease | C1260899 | GeneticVariation | 0.1 | disgenet |
| Anemia, Diamond Blackfan | CD34 | disease | C1260899 | AlteredExpression | 0.07 | disgenet |
| Anemia, Diamond Blackfan | CD34 | disease | C1260899 | Biomarker | 0.07 | disgenet |
| Anemia, Diamond Blackfan | CD34 | disease | C1260899 | GeneticVariation | 0.07 | disgenet |
| Anemia, Diamond Blackfan | RPS14 | disease | C1260899 | Biomarker | 0.05 | disgenet |
| Anemia, Diamond Blackfan | LOH19CR1 | disease | C1260899 | Biomarker | 0.05 | disgenet |
| Anemia, Diamond Blackfan | ADA | disease | C1260899 | AlteredExpression | 0.05 | disgenet |
| Anemia, Diamond Blackfan | LOH19CR1 | disease | C1260899 | GeneticVariation | 0.05 | disgenet |
| Anemia, Diamond Blackfan | ADA | disease | C1260899 | Biomarker | 0.05 | disgenet |
| Anemia, Diamond Blackfan | RPS14 | disease | C1260899 | GeneticVariation | 0.05 | disgenet |
| Anemia, Diamond Blackfan | KITLG | disease | C1260899 | Biomarker | 0.03 | disgenet |
| Anemia, Diamond Blackfan | KITLG | disease | C1260899 | AlteredExpression | 0.03 | disgenet |
| Anemia, Diamond Blackfan | CSDE1 | disease | C1260899 | AlteredExpression | 0.02 | disgenet |
| Anemia, Diamond Blackfan | SBDS | disease | C1260899 | Biomarker | 0.02 | disgenet |
| Anemia, Diamond Blackfan | HSPA4 | disease | C1260899 | Biomarker | 0.02 | disgenet |
| Anemia, Diamond Blackfan | HSPA4 | disease | C1260899 | GeneticVariation | 0.02 | disgenet |
| Anemia, Diamond Blackfan | THPO | disease | C1260899 | AlteredExpression | 0.02 | disgenet |
| Anemia, Diamond Blackfan | IL3 | disease | C1260899 | AlteredExpression | 0.02 | disgenet |
| Anemia, Diamond Blackfan | SBDS | disease | C1260899 | GeneticVariation | 0.02 | disgenet |
| Anemia, Diamond Blackfan | THPO | disease | C1260899 | Biomarker | 0.02 | disgenet |
| Anemia, Diamond Blackfan | CD38 | disease | C1260899 | Biomarker | 0.01 | disgenet |
| Anemia, Diamond Blackfan | LEP | disease | C1260899 | Biomarker | 0.01 | disgenet |
| Anemia, Diamond Blackfan | TNF | disease | C1260899 | AlteredExpression | 0.01 | disgenet |
| Anemia, Diamond Blackfan | MAPK1 | disease | C1260899 | AlteredExpression | 0.01 | disgenet |
| Anemia, Diamond Blackfan | RPL41 | disease | C1260899 | GeneticVariation | 0.01 | disgenet |
| Anemia, Diamond Blackfan | POLDIP2 | disease | C1260899 | AlteredExpression | 0.01 | disgenet |
| Anemia, Diamond Blackfan | FPR2 | disease | C1260899 | AlteredExpression | 0.01 | disgenet |
| Anemia, Diamond Blackfan | FLI1 | disease | C1260899 | Biomarker | 0.01 | disgenet |
| Anemia, Diamond Blackfan | COL3A1 | disease | C1260899 | Biomarker | 0.01 | disgenet |
| Anemia, Diamond Blackfan | RPS21 | disease | C1260899 | Biomarker | 0.01 | disgenet |
| Anemia, Diamond Blackfan | XRS | disease | C1260899 | Biomarker | 0.01 | disgenet |
| Anemia, Diamond Blackfan | TFRC | disease | C1260899 | Biomarker | 0.01 | disgenet |
| Anemia, Diamond Blackfan | HBB | disease | C1260899 | GeneticVariation | 0.01 | disgenet |
| Anemia, Diamond Blackfan | LONP1 | disease | C1260899 | GeneticVariation | 0.01 | disgenet |
| Anemia, Diamond Blackfan | RMRP | disease | C1260899 | GeneticVariation | 0.01 | disgenet |
| Anemia, Diamond Blackfan | IL9 | disease | C1260899 | Biomarker | 0.01 | disgenet |
| Anemia, Diamond Blackfan | DDX21 | disease | C1260899 | GeneticVariation | 0.01 | disgenet |
| Anemia, Diamond Blackfan | MAPK8 | disease | C1260899 | Biomarker | 0.01 | disgenet |
| Anemia, Diamond Blackfan | TEC | disease | C1260899 | Biomarker | 0.01 | disgenet |
| Anemia, Diamond Blackfan | MTUS1 | disease | C1260899 | Biomarker | 0.01 | disgenet |
| Anemia, Diamond Blackfan | LEFTY1 | disease | C1260899 | Biomarker | 0.01 | disgenet |
| Anemia, Diamond Blackfan | GABARAPL1 | disease | C1260899 | Biomarker | 0.01 | disgenet |
| Anemia, Diamond Blackfan | MAPK14 | disease | C1260899 | AlteredExpression | 0.01 | disgenet |
| Anemia, Diamond Blackfan | TRIM27 | disease | C1260899 | AlteredExpression | 0.01 | disgenet |
| Anemia, Diamond Blackfan | DBA2 | disease | C1260899 | Biomarker | 0.01 | disgenet |
| Anemia, Diamond Blackfan | CRK | disease | C1260899 | AlteredExpression | 0.01 | disgenet |
| Anemia, Diamond Blackfan | LRPAP1 | disease | C1260899 | Biomarker | 0.01 | disgenet |
| Anemia, Diamond Blackfan | PRMT3 | disease | C1260899 | GeneticVariation | 0.01 | disgenet |
| Anemia, Diamond Blackfan | CSF2 | disease | C1260899 | Biomarker | 0.01 | disgenet |
| Anemia, Diamond Blackfan | BAMBI | disease | C1260899 | Biomarker | 0.01 | disgenet |
| Anemia, Diamond Blackfan | CDA | disease | C1260899 | GeneticVariation | 0.01 | disgenet |
| Anemia, Diamond Blackfan | IL1B | disease | C1260899 | Biomarker | 0.01 | disgenet |
| Anemia, Diamond Blackfan | CNBP | disease | C1260899 | Biomarker | 0.01 | disgenet |
| Anemia, Diamond Blackfan | GABARAPL2 | disease | C1260899 | Biomarker | 0.01 | disgenet |
| Anemia, Diamond Blackfan | AHSA1 | disease | C1260899 | AlteredExpression | 0.01 | disgenet |
| Anemia, Diamond Blackfan | RNF19A | disease | C1260899 | AlteredExpression | 0.01 | disgenet |
| Anemia, Diamond Blackfan | PIM1 | disease | C1260899 | GeneticVariation | 0.01 | disgenet |
| Anemia, Diamond Blackfan | SERPINE1 | disease | C1260899 | Biomarker | 0.01 | disgenet |
| Anemia, Diamond Blackfan | GRAP2 | disease | C1260899 | AlteredExpression | 0.01 | disgenet |
| Anemia, Diamond Blackfan | KLF1 | disease | C1260899 | AlteredExpression | 0.01 | disgenet |
| Anemia, Diamond Blackfan | AIMP2 | disease | C1260899 | AlteredExpression | 0.01 | disgenet |
| Anemia, Diamond Blackfan | RPS20 | NA | C1260899 | NA | NA | orphanet |
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