| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Autosomal Recessive Primary Microcephaly | ASPM | disease | C3711387 | GermlineCausalMutation | 0.7 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | ASPM | disease | C3711387 | CausalMutation | 0.7 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | ASPM | disease | C3711387 | GeneticVariation | 0.7 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | ASPM | disease | C3711387 | Biomarker | 0.7 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | CDK5RAP2 | disease | C3711387 | Biomarker | 0.69 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | CDK5RAP2 | disease | C3711387 | GermlineCausalMutation | 0.69 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | CDK5RAP2 | disease | C3711387 | CausalMutation | 0.69 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | CDK5RAP2 | disease | C3711387 | GeneticVariation | 0.69 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | MCPH1 | disease | C3711387 | GermlineCausalMutation | 0.5 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | MCPH1 | disease | C3711387 | GeneticVariation | 0.5 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | MCPH1 | disease | C3711387 | CausalMutation | 0.5 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | MCPH1 | disease | C3711387 | Biomarker | 0.5 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | STIL | disease | C3711387 | CausalMutation | 0.44 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | STIL | disease | C3711387 | GeneticVariation | 0.44 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | STIL | disease | C3711387 | GermlineCausalMutation | 0.44 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | CENPJ | disease | C3711387 | GermlineCausalMutation | 0.43 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | CENPJ | disease | C3711387 | CausalMutation | 0.43 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | CENPJ | disease | C3711387 | GeneticVariation | 0.43 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | WDR62 | disease | C3711387 | GermlineCausalMutation | 0.4 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | CIT | disease | C3711387 | CausalMutation | 0.4 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | CIT | disease | C3711387 | GermlineCausalMutation | 0.4 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | WDR62 | disease | C3711387 | Biomarker | 0.4 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | WDR62 | disease | C3711387 | AlteredExpression | 0.4 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | WDR62 | disease | C3711387 | GeneticVariation | 0.4 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | SASS6 | disease | C3711387 | GeneticVariation | 0.32 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | KNL1 | disease | C3711387 | GermlineCausalMutation | 0.32 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | SASS6 | disease | C3711387 | GermlineCausalMutation | 0.32 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | CEP152 | disease | C3711387 | GermlineCausalMutation | 0.32 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | KNL1 | disease | C3711387 | Biomarker | 0.32 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | CEP152 | disease | C3711387 | Biomarker | 0.32 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | CEP152 | disease | C3711387 | GeneticVariation | 0.32 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | MAP11 | disease | C3711387 | GermlineCausalMutation | 0.31 | disgenet |
| Autosomal Recessive Primary Microcephaly | MAP11 | disease | C3711387 | GeneticVariation | 0.31 | disgenet |
| Autosomal Recessive Primary Microcephaly | CEP135 | disease | C3711387 | GermlineCausalMutation | 0.31 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | CEP135 | disease | C3711387 | GeneticVariation | 0.31 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | CEP63 | disease | C3711387 | Biomarker | 0.31 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | KIF14 | disease | C3711387 | GermlineCausalMutation | 0.31 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | KIF14 | disease | C3711387 | GeneticVariation | 0.31 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | ANKLE2 | disease | C3711387 | GermlineCausalMutation | 0.31 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | ANKLE2 | disease | C3711387 | GeneticVariation | 0.31 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | CDK6 | disease | C3711387 | GeneticVariation | 0.31 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | CDK6 | disease | C3711387 | GermlineCausalMutation | 0.31 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | CEP63 | disease | C3711387 | GermlineCausalMutation | 0.31 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | COPB2 | disease | C3711387 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | PHC1 | disease | C3711387 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | PYCR2 | disease | C3711387 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | NCAPD3 | disease | C3711387 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | MFSD2A | disease | C3711387 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | TAF13 | disease | C3711387 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Autosomal Recessive Primary Microcephaly | CDK5 | disease | C3711387 | GeneticVariation | 0.02 | disgenet |
| Autosomal Recessive Primary Microcephaly | ALB | disease | C3711387 | GeneticVariation | 0.02 | disgenet |
| Autosomal Recessive Primary Microcephaly | OXA1L | disease | C3711387 | GeneticVariation | 0.02 | disgenet |
| Autosomal Recessive Primary Microcephaly | TUBA1A | disease | C3711387 | GeneticVariation | 0.01 | disgenet |
| Autosomal Recessive Primary Microcephaly | MSI1 | disease | C3711387 | AlteredExpression | 0.01 | disgenet |
| Autosomal Recessive Primary Microcephaly | ATR | disease | C3711387 | GeneticVariation | 0.01 | disgenet |
| Autosomal Recessive Primary Microcephaly | ZNF335 | disease | C3711387 | GeneticVariation | 0.01 | disgenet |
| Autosomal Recessive Primary Microcephaly | BLM | disease | C3711387 | Biomarker | 0.01 | disgenet |
| Autosomal Recessive Primary Microcephaly | ATM | disease | C3711387 | Biomarker | 0.01 | disgenet |
| Autosomal Recessive Primary Microcephaly | PCNT | disease | C3711387 | Biomarker | 0.01 | disgenet |
| Autosomal Recessive Primary Microcephaly | SDR42E1 | disease | C3711387 | Biomarker | 0.01 | disgenet |
| Autosomal Recessive Primary Microcephaly | TRAPPC14 | NA | C3711387 | NA | NA | orphanet |
| Autosomal Recessive Primary Microcephaly | METTL5 | NA | C3711387 | NA | NA | orphanet |
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