| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Bardet-Biedl syndrome 1 | BBS1 | disease | C2936862 | Biomarker | 0.94 | orphanet , disgenet |
| Bardet-Biedl syndrome 1 | BBS1 | disease | C2936862 | CausalMutation | 0.94 | orphanet , disgenet |
| Bardet-Biedl syndrome 1 | BBS1 | disease | C2936862 | AlteredExpression | 0.94 | orphanet , disgenet |
| Bardet-Biedl syndrome 1 | BBS1 | disease | C2936862 | GeneticVariation | 0.94 | orphanet , disgenet |
| Bardet-Biedl syndrome 1 | CCDC28B | disease | C2936862 | Biomarker | 0.5 | disgenet |
| Bardet-Biedl syndrome 1 | BBS9 | disease | C2936862 | Biomarker | 0.4 | disgenet |
| Bardet-Biedl syndrome 1 | BBS9 | disease | C2936862 | CausalMutation | 0.4 | disgenet |
| Bardet-Biedl syndrome 1 | MKKS | disease | C2936862 | GeneticVariation | 0.4 | disgenet |
| Bardet-Biedl syndrome 1 | MKKS | disease | C2936862 | CausalMutation | 0.4 | disgenet |
| Bardet-Biedl syndrome 1 | BBS10 | disease | C2936862 | Biomarker | 0.4 | disgenet |
| Bardet-Biedl syndrome 1 | MKKS | disease | C2936862 | Biomarker | 0.4 | disgenet |
| Bardet-Biedl syndrome 1 | BBS10 | disease | C2936862 | GeneticVariation | 0.4 | disgenet |
| Bardet-Biedl syndrome 1 | BBS10 | disease | C2936862 | CausalMutation | 0.4 | disgenet |
| Bardet-Biedl syndrome 1 | MKS1 | disease | C2936862 | Biomarker | 0.3 | disgenet |
| Bardet-Biedl syndrome 1 | BBS12 | disease | C2936862 | Biomarker | 0.3 | disgenet |
| Bardet-Biedl syndrome 1 | CEP290 | disease | C2936862 | Biomarker | 0.3 | disgenet |
| Bardet-Biedl syndrome 1 | WDPCP | disease | C2936862 | Biomarker | 0.3 | disgenet |
| Bardet-Biedl syndrome 1 | KIF7 | disease | C2936862 | GeneticVariation | 0.3 | disgenet |
| Bardet-Biedl syndrome 1 | BBS7 | disease | C2936862 | Biomarker | 0.3 | disgenet |
| Bardet-Biedl syndrome 1 | ARL6 | disease | C2936862 | Biomarker | 0.3 | disgenet |
| Bardet-Biedl syndrome 1 | BBS2 | disease | C2936862 | Biomarker | 0.3 | disgenet |
| Bardet-Biedl syndrome 1 | BBS4 | disease | C2936862 | Biomarker | 0.3 | disgenet |
| Bardet-Biedl syndrome 1 | TRIM32 | disease | C2936862 | Biomarker | 0.3 | disgenet |
| Bardet-Biedl syndrome 1 | TTC8 | disease | C2936862 | Biomarker | 0.3 | disgenet |
| Bardet-Biedl syndrome 1 | BBS5 | disease | C2936862 | Biomarker | 0.3 | disgenet |
| Bardet-Biedl syndrome 1 | TMEM67 | disease | C2936862 | GeneticVariation | 0.1 | disgenet |
| Bardet-Biedl syndrome 1 | ZDHHC24 | disease | C2936862 | CausalMutation | 0.1 | disgenet |
| Bardet-Biedl syndrome 1 | ZDHHC24 | disease | C2936862 | GeneticVariation | 0.1 | disgenet |
| Bardet-Biedl syndrome 1 | EHD1 | disease | C2936862 | Biomarker | 0.01 | disgenet |
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