| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Meckel syndrome type 1 | MKS1 | disease | C3714506 | CausalMutation | 0.8 | orphanet , disgenet |
| Meckel syndrome type 1 | MKS1 | disease | C3714506 | Biomarker | 0.8 | orphanet , disgenet |
| Meckel syndrome type 1 | MKS1 | disease | C3714506 | AlteredExpression | 0.8 | orphanet , disgenet |
| Meckel syndrome type 1 | MKS1 | disease | C3714506 | GeneticVariation | 0.8 | orphanet , disgenet |
| Meckel syndrome type 1 | CEP290 | disease | C3714506 | Biomarker | 0.4 | orphanet , disgenet |
| Meckel syndrome type 1 | TMEM67 | disease | C3714506 | Biomarker | 0.4 | orphanet , disgenet |
| Meckel syndrome type 1 | CEP290 | disease | C3714506 | GeneticVariation | 0.4 | orphanet , disgenet |
| Meckel syndrome type 1 | TMEM67 | disease | C3714506 | GeneticVariation | 0.4 | orphanet , disgenet |
| Meckel syndrome type 1 | RPGRIP1L | disease | C3714506 | Biomarker | 0.37 | orphanet , disgenet |
| Meckel syndrome type 1 | CC2D2A | disease | C3714506 | GeneticVariation | 0.37 | orphanet , disgenet |
| Meckel syndrome type 1 | RPGRIP1L | disease | C3714506 | GeneticVariation | 0.37 | orphanet , disgenet |
| Meckel syndrome type 1 | CC2D2A | disease | C3714506 | Biomarker | 0.37 | orphanet , disgenet |
| Meckel syndrome type 1 | B9D1 | disease | C3714506 | Biomarker | 0.34 | orphanet , disgenet |
| Meckel syndrome type 1 | B9D1 | disease | C3714506 | GeneticVariation | 0.34 | orphanet , disgenet |
| Meckel syndrome type 1 | TMEM231 | disease | C3714506 | GeneticVariation | 0.33 | orphanet , disgenet |
| Meckel syndrome type 1 | TMEM231 | disease | C3714506 | Biomarker | 0.33 | orphanet , disgenet |
| Meckel syndrome type 1 | B9D2 | disease | C3714506 | GeneticVariation | 0.32 | orphanet , disgenet |
| Meckel syndrome type 1 | B9D2 | disease | C3714506 | Biomarker | 0.32 | orphanet , disgenet |
| Meckel syndrome type 1 | TXNDC15 | disease | C3714506 | Biomarker | 0.32 | orphanet , disgenet |
| Meckel syndrome type 1 | TCTN2 | disease | C3714506 | GeneticVariation | 0.32 | orphanet , disgenet |
| Meckel syndrome type 1 | TCTN2 | disease | C3714506 | Biomarker | 0.32 | orphanet , disgenet |
| Meckel syndrome type 1 | TXNDC15 | disease | C3714506 | GeneticVariation | 0.32 | orphanet , disgenet |
| Meckel syndrome type 1 | TMEM107 | disease | C3714506 | Biomarker | 0.31 | orphanet , disgenet |
| Meckel syndrome type 1 | TMEM216 | disease | C3714506 | Biomarker | 0.31 | orphanet , disgenet |
| Meckel syndrome type 1 | RPGRIP1 | disease | C3714506 | Biomarker | 0.31 | orphanet , disgenet |
| Meckel syndrome type 1 | TMEM216 | disease | C3714506 | GeneticVariation | 0.31 | orphanet , disgenet |
| Meckel syndrome type 1 | RPGRIP1 | disease | C3714506 | GeneticVariation | 0.31 | orphanet , disgenet |
| Meckel syndrome type 1 | CSPP1 | disease | C3714506 | Biomarker | 0.3 | orphanet , disgenet |
| Meckel syndrome type 1 | HYLS1 | disease | C3714506 | Biomarker | 0.3 | disgenet |
| Meckel syndrome type 1 | NPHP3 | disease | C3714506 | Biomarker | 0.3 | disgenet |
| Meckel syndrome type 1 | KIF14 | disease | C3714506 | Biomarker | 0.3 | disgenet |
| Meckel syndrome type 1 | WDPCP | disease | C3714506 | Biomarker | 0.3 | disgenet |
| Meckel syndrome type 1 | LPO | disease | C3714506 | GeneticVariation | 0.1 | disgenet |
| Meckel syndrome type 1 | LPO | disease | C3714506 | CausalMutation | 0.1 | disgenet |
| Meckel syndrome type 1 | MKKS | disease | C3714506 | Biomarker | 0.08 | disgenet |
| Meckel syndrome type 1 | MKKS | disease | C3714506 | GeneticVariation | 0.08 | disgenet |
| Meckel syndrome type 1 | NPHP1 | disease | C3714506 | GeneticVariation | 0.02 | disgenet |
| Meckel syndrome type 1 | VEGFA | disease | C3714506 | AlteredExpression | 0.02 | disgenet |
| Meckel syndrome type 1 | VEGFA | disease | C3714506 | Biomarker | 0.02 | disgenet |
| Meckel syndrome type 1 | AFP | disease | C3714506 | AlteredExpression | 0.01 | disgenet |
| Meckel syndrome type 1 | PTGDS | disease | C3714506 | Biomarker | 0.01 | disgenet |
| Meckel syndrome type 1 | ARL13A | disease | C3714506 | Biomarker | 0.01 | disgenet |
| Meckel syndrome type 1 | CCL2 | disease | C3714506 | Biomarker | 0.01 | disgenet |
| Meckel syndrome type 1 | TCTN1 | disease | C3714506 | GeneticVariation | 0.01 | orphanet , disgenet |
| Meckel syndrome type 1 | CEP120 | disease | C3714506 | Biomarker | 0.01 | disgenet |
| Meckel syndrome type 1 | FLNA | disease | C3714506 | Biomarker | 0.01 | disgenet |
| Meckel syndrome type 1 | SEPTIN4 | disease | C3714506 | Biomarker | 0.01 | disgenet |
| Meckel syndrome type 1 | CCL4L2 | disease | C3714506 | AlteredExpression | 0.01 | disgenet |
| Meckel syndrome type 1 | TBX1 | disease | C3714506 | Biomarker | 0.01 | disgenet |
| Meckel syndrome type 1 | MTOR | disease | C3714506 | Biomarker | 0.01 | disgenet |
| Meckel syndrome type 1 | DVL1 | disease | C3714506 | AlteredExpression | 0.01 | disgenet |
| Meckel syndrome type 1 | LCA10 | disease | C3714506 | Biomarker | 0.01 | disgenet |
| Meckel syndrome type 1 | TRIM37 | disease | C3714506 | GeneticVariation | 0.01 | disgenet |
| Meckel syndrome type 1 | MIR181D | disease | C3714506 | Biomarker | 0.01 | disgenet |
| Meckel syndrome type 1 | TGM2 | disease | C3714506 | AlteredExpression | 0.01 | disgenet |
| Meckel syndrome type 1 | NFATC1 | disease | C3714506 | Biomarker | 0.01 | disgenet |
| Meckel syndrome type 1 | INPP5E | disease | C3714506 | GeneticVariation | 0.01 | disgenet |
| Meckel syndrome type 1 | JBS | disease | C3714506 | Biomarker | 0.01 | disgenet |
| Meckel syndrome type 1 | IL1RN | disease | C3714506 | Biomarker | 0.01 | disgenet |
| Meckel syndrome type 1 | IFT140 | disease | C3714506 | Biomarker | 0.01 | disgenet |
| Meckel syndrome type 1 | CCL5 | disease | C3714506 | Biomarker | 0.01 | disgenet |
| Meckel syndrome type 1 | LOXL1-AS1 | disease | C3714506 | Biomarker | 0.01 | disgenet |
| Meckel syndrome type 1 | ALDH1A3 | disease | C3714506 | Biomarker | 0.01 | disgenet |
| Meckel syndrome type 1 | IL6 | disease | C3714506 | AlteredExpression | 0.01 | disgenet |
| Meckel syndrome type 1 | CCL4L1 | disease | C3714506 | AlteredExpression | 0.01 | disgenet |
| Meckel syndrome type 1 | CCL4 | disease | C3714506 | AlteredExpression | 0.01 | disgenet |
| Meckel syndrome type 1 | BBS4 | disease | C3714506 | Biomarker | 0.01 | disgenet |
| Meckel syndrome type 1 | IGF1 | disease | C3714506 | Biomarker | 0.01 | disgenet |
| Meckel syndrome type 1 | HDAC1 | disease | C3714506 | Biomarker | 0.01 | disgenet |
| Meckel syndrome type 1 | INVS | disease | C3714506 | GeneticVariation | 0.01 | disgenet |
| Meckel syndrome type 1 | TCTN3 | NA | C3714506 | NA | NA | orphanet |
| Meckel syndrome type 1 | TMEM237 | NA | C3714506 | NA | NA | orphanet |
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