| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Joubert syndrome 1 | INPP5E | disease | C0431399 | Biomarker | 0.78 | orphanet , disgenet |
| Joubert syndrome 1 | INPP5E | disease | C0431399 | CausalMutation | 0.78 | orphanet , disgenet |
| Joubert syndrome 1 | INPP5E | disease | C0431399 | GeneticVariation | 0.78 | orphanet , disgenet |
| Joubert syndrome 1 | INPP5E | disease | C0431399 | GermlineCausalMutation | 0.78 | orphanet , disgenet |
| Joubert syndrome 1 | AHI1 | disease | C0431399 | GermlineCausalMutation | 0.7 | orphanet , disgenet |
| Joubert syndrome 1 | AHI1 | disease | C0431399 | CausalMutation | 0.7 | orphanet , disgenet |
| Joubert syndrome 1 | AHI1 | disease | C0431399 | GeneticVariation | 0.7 | orphanet , disgenet |
| Joubert syndrome 1 | AHI1 | disease | C0431399 | Biomarker | 0.7 | orphanet , disgenet |
| Joubert syndrome 1 | AHI1 | disease | C0431399 | AlteredExpression | 0.7 | orphanet , disgenet |
| Joubert syndrome 1 | CPLANE1 | disease | C0431399 | GeneticVariation | 0.69 | orphanet , disgenet |
| Joubert syndrome 1 | CPLANE1 | disease | C0431399 | Biomarker | 0.69 | orphanet , disgenet |
| Joubert syndrome 1 | CPLANE1 | disease | C0431399 | GermlineCausalMutation | 0.69 | orphanet , disgenet |
| Joubert syndrome 1 | TMEM67 | disease | C0431399 | Biomarker | 0.68 | orphanet , disgenet |
| Joubert syndrome 1 | TMEM67 | disease | C0431399 | CausalMutation | 0.68 | orphanet , disgenet |
| Joubert syndrome 1 | TMEM67 | disease | C0431399 | GeneticVariation | 0.68 | orphanet , disgenet |
| Joubert syndrome 1 | TMEM67 | disease | C0431399 | GermlineCausalMutation | 0.68 | orphanet , disgenet |
| Joubert syndrome 1 | KIAA0586 | disease | C0431399 | GeneticVariation | 0.67 | orphanet , disgenet |
| Joubert syndrome 1 | KIAA0586 | disease | C0431399 | GermlineCausalMutation | 0.67 | orphanet , disgenet |
| Joubert syndrome 1 | KIAA0586 | disease | C0431399 | Biomarker | 0.67 | orphanet , disgenet |
| Joubert syndrome 1 | KIAA0586 | disease | C0431399 | CausalMutation | 0.67 | orphanet , disgenet |
| Joubert syndrome 1 | MKS1 | disease | C0431399 | Biomarker | 0.66 | orphanet , disgenet |
| Joubert syndrome 1 | MKS1 | disease | C0431399 | CausalMutation | 0.66 | orphanet , disgenet |
| Joubert syndrome 1 | MKS1 | disease | C0431399 | GeneticVariation | 0.66 | orphanet , disgenet |
| Joubert syndrome 1 | MKS1 | disease | C0431399 | GermlineCausalMutation | 0.66 | orphanet , disgenet |
| Joubert syndrome 1 | PIBF1 | disease | C0431399 | GermlineCausalMutation | 0.62 | orphanet , disgenet |
| Joubert syndrome 1 | PIBF1 | disease | C0431399 | GeneticVariation | 0.62 | orphanet , disgenet |
| Joubert syndrome 1 | PIBF1 | disease | C0431399 | Biomarker | 0.62 | orphanet , disgenet |
| Joubert syndrome 1 | TCTN1 | disease | C0431399 | GeneticVariation | 0.61 | orphanet , disgenet |
| Joubert syndrome 1 | TCTN1 | disease | C0431399 | GermlineCausalMutation | 0.61 | orphanet , disgenet |
| Joubert syndrome 1 | TCTN1 | disease | C0431399 | Biomarker | 0.61 | orphanet , disgenet |
| Joubert syndrome 1 | TCTN2 | disease | C0431399 | Biomarker | 0.6 | orphanet , disgenet |
| Joubert syndrome 1 | TCTN2 | disease | C0431399 | CausalMutation | 0.6 | orphanet , disgenet |
| Joubert syndrome 1 | TCTN2 | disease | C0431399 | GermlineCausalMutation | 0.6 | orphanet , disgenet |
| Joubert syndrome 1 | CSPP1 | disease | C0431399 | GermlineCausalMutation | 0.55 | orphanet , disgenet |
| Joubert syndrome 1 | CSPP1 | disease | C0431399 | Biomarker | 0.55 | orphanet , disgenet |
| Joubert syndrome 1 | CSPP1 | disease | C0431399 | GeneticVariation | 0.55 | orphanet , disgenet |
| Joubert syndrome 1 | CEP104 | disease | C0431399 | Biomarker | 0.53 | orphanet , disgenet |
| Joubert syndrome 1 | CEP104 | disease | C0431399 | GermlineCausalMutation | 0.53 | orphanet , disgenet |
| Joubert syndrome 1 | CEP104 | disease | C0431399 | GeneticVariation | 0.53 | orphanet , disgenet |
| Joubert syndrome 1 | CEP41 | disease | C0431399 | GeneticVariation | 0.52 | orphanet , disgenet |
| Joubert syndrome 1 | ARMC9 | disease | C0431399 | GeneticVariation | 0.52 | orphanet , disgenet |
| Joubert syndrome 1 | ARMC9 | disease | C0431399 | GermlineCausalMutation | 0.52 | orphanet , disgenet |
| Joubert syndrome 1 | CEP41 | disease | C0431399 | GermlineCausalMutation | 0.52 | orphanet , disgenet |
| Joubert syndrome 1 | ARMC9 | disease | C0431399 | Biomarker | 0.52 | orphanet , disgenet |
| Joubert syndrome 1 | CEP41 | disease | C0431399 | Biomarker | 0.52 | orphanet , disgenet |
| Joubert syndrome 1 | TMEM237 | disease | C0431399 | Biomarker | 0.51 | orphanet , disgenet |
| Joubert syndrome 1 | HYLS1 | disease | C0431399 | GermlineCausalMutation | 0.51 | orphanet , disgenet |
| Joubert syndrome 1 | TMEM237 | disease | C0431399 | GeneticVariation | 0.51 | orphanet , disgenet |
| Joubert syndrome 1 | TMEM237 | disease | C0431399 | GermlineCausalMutation | 0.51 | orphanet , disgenet |
| Joubert syndrome 1 | HYLS1 | disease | C0431399 | Biomarker | 0.51 | orphanet , disgenet |
| Joubert syndrome 1 | HYLS1 | disease | C0431399 | GeneticVariation | 0.51 | orphanet , disgenet |
| Joubert syndrome 1 | ARL13B | disease | C0431399 | GermlineCausalMutation | 0.5 | orphanet , disgenet |
| Joubert syndrome 1 | ARL13B | disease | C0431399 | Biomarker | 0.5 | orphanet , disgenet |
| Joubert syndrome 1 | ARL13B | disease | C0431399 | GeneticVariation | 0.5 | orphanet , disgenet |
| Joubert syndrome 1 | RPGRIP1L | disease | C0431399 | Biomarker | 0.48 | orphanet , disgenet |
| Joubert syndrome 1 | RPGRIP1L | disease | C0431399 | GeneticVariation | 0.48 | orphanet , disgenet |
| Joubert syndrome 1 | RPGRIP1L | disease | C0431399 | CausalMutation | 0.48 | orphanet , disgenet |
| Joubert syndrome 1 | KIAA0753 | disease | C0431399 | Biomarker | 0.43 | disgenet |
| Joubert syndrome 1 | KIAA0753 | disease | C0431399 | CausalMutation | 0.43 | disgenet |
| Joubert syndrome 1 | KIAA0556 | disease | C0431399 | GermlineCausalMutation | 0.43 | disgenet |
| Joubert syndrome 1 | KIAA0556 | disease | C0431399 | GeneticVariation | 0.43 | disgenet |
| Joubert syndrome 1 | KIAA0556 | disease | C0431399 | Biomarker | 0.43 | disgenet |
| Joubert syndrome 1 | TMEM231 | disease | C0431399 | GeneticVariation | 0.43 | orphanet , disgenet |
| Joubert syndrome 1 | KIAA0753 | disease | C0431399 | GeneticVariation | 0.43 | disgenet |
| Joubert syndrome 1 | TMEM231 | disease | C0431399 | Biomarker | 0.43 | orphanet , disgenet |
| Joubert syndrome 1 | TMEM231 | disease | C0431399 | CausalMutation | 0.43 | orphanet , disgenet |
| Joubert syndrome 1 | B9D2 | disease | C0431399 | Biomarker | 0.41 | disgenet |
| Joubert syndrome 1 | B9D2 | disease | C0431399 | GeneticVariation | 0.41 | disgenet |
| Joubert syndrome 1 | B9D2 | disease | C0431399 | CausalMutation | 0.41 | disgenet |
| Joubert syndrome 1 | TMEM216 | disease | C0431399 | Biomarker | 0.41 | orphanet , disgenet |
| Joubert syndrome 1 | TMEM216 | disease | C0431399 | GeneticVariation | 0.41 | orphanet , disgenet |
| Joubert syndrome 1 | TMEM216 | disease | C0431399 | CausalMutation | 0.41 | orphanet , disgenet |
| Joubert syndrome 1 | B9D1 | disease | C0431399 | GermlineCausalMutation | 0.4 | orphanet , disgenet |
| Joubert syndrome 1 | B9D1 | disease | C0431399 | CausalMutation | 0.4 | orphanet , disgenet |
| Joubert syndrome 1 | B9D1 | disease | C0431399 | GeneticVariation | 0.4 | orphanet , disgenet |
| Joubert syndrome 1 | KIF7 | disease | C0431399 | Biomarker | 0.34 | disgenet |
| Joubert syndrome 1 | KIF7 | disease | C0431399 | GeneticVariation | 0.34 | disgenet |
| Joubert syndrome 1 | ARL3 | disease | C0431399 | GeneticVariation | 0.33 | orphanet , disgenet |
| Joubert syndrome 1 | ARL3 | disease | C0431399 | GermlineCausalMutation | 0.33 | orphanet , disgenet |
| Joubert syndrome 1 | CEP120 | disease | C0431399 | GermlineCausalMutation | 0.33 | orphanet , disgenet |
| Joubert syndrome 1 | CEP120 | disease | C0431399 | Biomarker | 0.33 | orphanet , disgenet |
| Joubert syndrome 1 | CEP120 | disease | C0431399 | GeneticVariation | 0.33 | orphanet , disgenet |
| Joubert syndrome 1 | TCTN3 | disease | C0431399 | GeneticVariation | 0.32 | disgenet |
| Joubert syndrome 1 | TCTN3 | disease | C0431399 | Biomarker | 0.32 | disgenet |
| Joubert syndrome 1 | FAM149B1 | disease | C0431399 | Biomarker | 0.31 | disgenet |
| Joubert syndrome 1 | POC1B | disease | C0431399 | Biomarker | 0.31 | disgenet |
| Joubert syndrome 1 | POC1B | disease | C0431399 | GeneticVariation | 0.31 | disgenet |
| Joubert syndrome 1 | TMEM138 | disease | C0431399 | Biomarker | 0.3 | orphanet , disgenet |
| Joubert syndrome 1 | ZIC1 | disease | C0431399 | Biomarker | 0.22 | disgenet |
| Joubert syndrome 1 | CEP290 | disease | C0431399 | Biomarker | 0.2 | orphanet , disgenet |
| Joubert syndrome 1 | CEP290 | disease | C0431399 | GeneticVariation | 0.2 | orphanet , disgenet |
| Joubert syndrome 1 | CEP290 | disease | C0431399 | AlteredExpression | 0.2 | orphanet , disgenet |
| Joubert syndrome 1 | CEP290 | disease | C0431399 | CausalMutation | 0.2 | orphanet , disgenet |
| Joubert syndrome 1 | CC2D2A | disease | C0431399 | GeneticVariation | 0.17 | orphanet , disgenet |
| Joubert syndrome 1 | CC2D2A | disease | C0431399 | Biomarker | 0.17 | orphanet , disgenet |
| Joubert syndrome 1 | CC2D2A | disease | C0431399 | CausalMutation | 0.17 | orphanet , disgenet |
| Joubert syndrome 1 | OFD1 | disease | C0431399 | CausalMutation | 0.15 | disgenet |
| Joubert syndrome 1 | OFD1 | disease | C0431399 | GeneticVariation | 0.15 | disgenet |
| Joubert syndrome 1 | PDE6D | disease | C0431399 | Biomarker | 0.12 | disgenet |
| Joubert syndrome 1 | PDE6D | disease | C0431399 | GeneticVariation | 0.12 | disgenet |
| Joubert syndrome 1 | ITPR1 | disease | C0431399 | Biomarker | 0.11 | disgenet |
| Joubert syndrome 1 | ITPR1 | disease | C0431399 | GeneticVariation | 0.11 | disgenet |
| Joubert syndrome 1 | MVK | disease | C0431399 | Biomarker | 0.1 | disgenet |
| Joubert syndrome 1 | RNU4ATAC | disease | C0431399 | Biomarker | 0.1 | disgenet |
| Joubert syndrome 1 | RCOR1 | disease | C0431399 | GeneticVariation | 0.1 | disgenet |
| Joubert syndrome 1 | NPHP1 | disease | C0431399 | Biomarker | 0.1 | orphanet , disgenet |
| Joubert syndrome 1 | MEF2C | disease | C0431399 | Biomarker | 0.1 | disgenet |
| Joubert syndrome 1 | NPHP1 | disease | C0431399 | GeneticVariation | 0.1 | orphanet , disgenet |
| Joubert syndrome 1 | LPO | disease | C0431399 | CausalMutation | 0.1 | disgenet |
| Joubert syndrome 1 | CLUAP1 | disease | C0431399 | GeneticVariation | 0.1 | disgenet |
| Joubert syndrome 1 | LRRCC1 | disease | C0431399 | GeneticVariation | 0.1 | disgenet |
| Joubert syndrome 1 | LPO | disease | C0431399 | GeneticVariation | 0.1 | disgenet |
| Joubert syndrome 1 | C2CD3 | disease | C0431399 | CausalMutation | 0.1 | disgenet |
| Joubert syndrome 1 | ALX4 | disease | C0431399 | Biomarker | 0.1 | disgenet |
| Joubert syndrome 1 | IFT172 | disease | C0431399 | CausalMutation | 0.1 | disgenet |
| Joubert syndrome 1 | TFAP2A | disease | C0431399 | Biomarker | 0.1 | disgenet |
| Joubert syndrome 1 | WNT1 | disease | C0431399 | GeneticVariation | 0.02 | disgenet |
| Joubert syndrome 1 | CELSR2 | disease | C0431399 | Biomarker | 0.02 | disgenet |
| Joubert syndrome 1 | INVS | disease | C0431399 | GeneticVariation | 0.02 | disgenet |
| Joubert syndrome 1 | NPHP4 | disease | C0431399 | GeneticVariation | 0.02 | disgenet |
| Joubert syndrome 1 | ARL13A | disease | C0431399 | Biomarker | 0.02 | disgenet |
| Joubert syndrome 1 | TMEM107 | disease | C0431399 | Biomarker | 0.02 | disgenet |
| Joubert syndrome 1 | TMEM107 | disease | C0431399 | GeneticVariation | 0.02 | disgenet |
| Joubert syndrome 1 | RGS6 | disease | C0431399 | Biomarker | 0.01 | disgenet |
| Joubert syndrome 1 | RASGRF1 | disease | C0431399 | GeneticVariation | 0.01 | disgenet |
| Joubert syndrome 1 | TIPRL | disease | C0431399 | Biomarker | 0.01 | disgenet |
| Joubert syndrome 1 | ANPEP | disease | C0431399 | GeneticVariation | 0.01 | disgenet |
| Joubert syndrome 1 | SOS1 | disease | C0431399 | GeneticVariation | 0.01 | disgenet |
| Joubert syndrome 1 | BARHL1 | disease | C0431399 | Biomarker | 0.01 | disgenet |
| Joubert syndrome 1 | CCND1 | disease | C0431399 | Biomarker | 0.01 | disgenet |
| Joubert syndrome 1 | JBS | disease | C0431399 | Biomarker | 0.01 | disgenet |
| Joubert syndrome 1 | CHD7 | disease | C0431399 | Biomarker | 0.01 | disgenet |
| Joubert syndrome 1 | RASA1 | disease | C0431399 | Biomarker | 0.01 | disgenet |
| Joubert syndrome 1 | KAT5 | disease | C0431399 | Biomarker | 0.01 | disgenet |
| Joubert syndrome 1 | TIMM8A | disease | C0431399 | Biomarker | 0.01 | disgenet |
| Joubert syndrome 1 | MKKS | disease | C0431399 | Biomarker | 0.01 | disgenet |
| Joubert syndrome 1 | CSF2 | disease | C0431399 | GeneticVariation | 0.01 | disgenet |
| Joubert syndrome 1 | GYS2 | disease | C0431399 | GeneticVariation | 0.01 | disgenet |
| Joubert syndrome 1 | ATF4 | disease | C0431399 | AlteredExpression | 0.01 | disgenet |
| Joubert syndrome 1 | TULP3 | disease | C0431399 | Biomarker | 0.01 | disgenet |
| Joubert syndrome 1 | DVL1 | disease | C0431399 | GeneticVariation | 0.01 | disgenet |
| Joubert syndrome 1 | ITFG1 | disease | C0431399 | Biomarker | 0.01 | disgenet |
| Joubert syndrome 1 | LAMC2 | disease | C0431399 | GeneticVariation | 0.01 | disgenet |
| Joubert syndrome 1 | ADGRG1 | disease | C0431399 | GeneticVariation | 0.01 | disgenet |
| Joubert syndrome 1 | MLRL | disease | C0431399 | Biomarker | 0.01 | disgenet |
| Joubert syndrome 1 | INPP5B | disease | C0431399 | Biomarker | 0.01 | disgenet |
| Joubert syndrome 1 | NXPH1 | disease | C0431399 | GeneticVariation | 0.01 | disgenet |
| Joubert syndrome 1 | LCA5 | disease | C0431399 | Biomarker | 0.01 | disgenet |
| Joubert syndrome 1 | ZNF131 | disease | C0431399 | AlteredExpression | 0.01 | disgenet |
| Joubert syndrome 1 | RPGRIP1 | disease | C0431399 | GeneticVariation | 0.01 | disgenet |
| Joubert syndrome 1 | HAP1 | disease | C0431399 | GeneticVariation | 0.01 | disgenet |
| Joubert syndrome 1 | SYNJ2 | disease | C0431399 | Biomarker | 0.01 | disgenet |
| Joubert syndrome 1 | METTL8 | disease | C0431399 | Biomarker | 0.01 | disgenet |
| Joubert syndrome 1 | CEND1 | disease | C0431399 | Biomarker | 0.01 | disgenet |
| Joubert syndrome 1 | DMXL2 | disease | C0431399 | GeneticVariation | 0.01 | disgenet |
| Joubert syndrome 1 | PPP1R21 | disease | C0431399 | Biomarker | 0.01 | disgenet |
| Joubert syndrome 1 | FGF8 | disease | C0431399 | Biomarker | 0.01 | disgenet |
| Joubert syndrome 1 | LCA10 | disease | C0431399 | Biomarker | 0.01 | disgenet |
| Joubert syndrome 1 | RAC2 | disease | C0431399 | GeneticVariation | 0.01 | disgenet |
| Joubert syndrome 1 | SYNJ1 | disease | C0431399 | Biomarker | 0.01 | disgenet |
| Joubert syndrome 1 | ZNF423 | disease | C0431399 | GeneticVariation | 0.01 | orphanet , disgenet |
| Joubert syndrome 1 | BPIFA4P | disease | C0431399 | GeneticVariation | 0.01 | disgenet |
| Joubert syndrome 1 | SUFU | disease | C0431399 | GeneticVariation | 0.01 | orphanet , disgenet |
| Joubert syndrome 1 | SMO | disease | C0431399 | Biomarker | 0.01 | disgenet |
| Joubert syndrome 1 | KATNIP | NA | C0431399 | NA | NA | orphanet |
| Joubert syndrome 1 | CBY1 | NA | C0431399 | NA | NA | orphanet |
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