| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Polymicrogyria | ADGRG1 | disease | C0266464 | Biomarker | 0.47 | disgenet |
| Polymicrogyria | ADGRG1 | disease | C0266464 | GeneticVariation | 0.47 | disgenet |
| Polymicrogyria | ADGRG1 | disease | C0266464 | CausalMutation | 0.47 | disgenet |
| Polymicrogyria | MN1 | disease | C0266464 | Biomarker | 0.3 | disgenet |
| Polymicrogyria | TUBA1A | disease | C0266464 | Biomarker | 0.16 | disgenet |
| Polymicrogyria | TUBA1A | disease | C0266464 | CausalMutation | 0.16 | disgenet |
| Polymicrogyria | TUBA1A | disease | C0266464 | GeneticVariation | 0.16 | disgenet |
| Polymicrogyria | TUBB2B | disease | C0266464 | GeneticVariation | 0.15 | orphanet , disgenet |
| Polymicrogyria | OCLN | disease | C0266464 | Biomarker | 0.15 | disgenet |
| Polymicrogyria | OCLN | disease | C0266464 | GeneticVariation | 0.15 | disgenet |
| Polymicrogyria | RTTN | disease | C0266464 | GeneticVariation | 0.14 | disgenet |
| Polymicrogyria | RTTN | disease | C0266464 | Biomarker | 0.14 | disgenet |
| Polymicrogyria | FKTN | disease | C0266464 | GeneticVariation | 0.13 | disgenet |
| Polymicrogyria | COL4A1 | disease | C0266464 | Biomarker | 0.13 | disgenet |
| Polymicrogyria | FKTN | disease | C0266464 | Biomarker | 0.13 | disgenet |
| Polymicrogyria | COL4A1 | disease | C0266464 | GeneticVariation | 0.13 | disgenet |
| Polymicrogyria | FIG4 | disease | C0266464 | Biomarker | 0.12 | disgenet |
| Polymicrogyria | PIK3CA | disease | C0266464 | GeneticVariation | 0.12 | disgenet |
| Polymicrogyria | FIG4 | disease | C0266464 | GeneticVariation | 0.12 | disgenet |
| Polymicrogyria | PIK3CA | disease | C0266464 | Biomarker | 0.12 | disgenet |
| Polymicrogyria | PIK3CA | disease | C0266464 | CausalMutation | 0.12 | disgenet |
| Polymicrogyria | PIK3R2 | disease | C0266464 | Biomarker | 0.12 | orphanet , disgenet |
| Polymicrogyria | PIK3R2 | disease | C0266464 | GeneticVariation | 0.12 | orphanet , disgenet |
| Polymicrogyria | AKT3 | disease | C0266464 | GeneticVariation | 0.11 | orphanet , disgenet |
| Polymicrogyria | INPP5E | disease | C0266464 | Biomarker | 0.11 | disgenet |
| Polymicrogyria | WDR62 | disease | C0266464 | Biomarker | 0.11 | disgenet |
| Polymicrogyria | LAMC3 | disease | C0266464 | GeneticVariation | 0.11 | orphanet , disgenet |
| Polymicrogyria | KIFBP | disease | C0266464 | Biomarker | 0.11 | disgenet |
| Polymicrogyria | LAMC3 | disease | C0266464 | Biomarker | 0.11 | orphanet , disgenet |
| Polymicrogyria | PI4KA | disease | C0266464 | GeneticVariation | 0.11 | disgenet |
| Polymicrogyria | AKT3 | disease | C0266464 | Biomarker | 0.11 | orphanet , disgenet |
| Polymicrogyria | KIFBP | disease | C0266464 | AlteredExpression | 0.11 | disgenet |
| Polymicrogyria | COL18A1 | disease | C0266464 | Biomarker | 0.11 | disgenet |
| Polymicrogyria | PAX6 | disease | C0266464 | Biomarker | 0.11 | disgenet |
| Polymicrogyria | TUBA8 | disease | C0266464 | Biomarker | 0.11 | disgenet |
| Polymicrogyria | PAX6 | disease | C0266464 | GeneticVariation | 0.11 | disgenet |
| Polymicrogyria | AHI1 | disease | C0266464 | Biomarker | 0.11 | disgenet |
| Polymicrogyria | PI4KA | disease | C0266464 | Biomarker | 0.11 | disgenet |
| Polymicrogyria | MTOR | disease | C0266464 | CausalMutation | 0.11 | disgenet |
| Polymicrogyria | WDR62 | disease | C0266464 | GeneticVariation | 0.11 | disgenet |
| Polymicrogyria | MTOR | disease | C0266464 | Biomarker | 0.11 | disgenet |
| Polymicrogyria | SNAP29 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | ZC3H14 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | TCTN2 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | COL3A1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | WT1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | LMAN2L | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | PEX26 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | MKS1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | CRBN | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | PEX1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | GRIK2 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | CSPP1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | CEP104 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | ERCC1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | KDM5B | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | RSRC1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | ACTB | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | ARHGAP31 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | TMEM237 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | TUBB3 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | SLC45A1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | POMT1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | GMPPB | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | B4GAT1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | PSAT1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | KATNB1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | POMGNT2 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | KIAA0556 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | PEX6 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | CC2D1A | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | TCTN1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | LINS1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | RAC1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | BORCS5 | disease | C0266464 | GeneticVariation | 0.1 | disgenet |
| Polymicrogyria | RAB3GAP2 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | POMGNT1 | disease | C0266464 | CausalMutation | 0.1 | disgenet |
| Polymicrogyria | HSD17B4 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | CLIP1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | EHMT1 | disease | C0266464 | CausalMutation | 0.1 | disgenet |
| Polymicrogyria | ATN1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | DISC1 | disease | C0266464 | Biomarker | 0.1 | orphanet , disgenet |
| Polymicrogyria | USP18 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | KIF5C | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | METTL23 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | PEX2 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | POMGNT1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | LARGE1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | SCN1A-AS1 | disease | C0266464 | CausalMutation | 0.1 | disgenet |
| Polymicrogyria | SARS1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | CPT2 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | ARL3 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | TNIK | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | EOMES | disease | C0266464 | Biomarker | 0.1 | orphanet , disgenet |
| Polymicrogyria | FKRP | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | B9D1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | ARL13B | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | ATP6V1E1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | RECQL4 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | CRPPA | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | TUFM | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | TECR | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | SON | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | POMT2 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | PTEN | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | SF3B4 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | FMN2 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | TRAPPC9 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | PHGDH | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | MBOAT7 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | AIMP1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | MECP2 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | ATP1A2 | disease | C0266464 | CausalMutation | 0.1 | disgenet |
| Polymicrogyria | FH | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | DAG1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | DDX3X | disease | C0266464 | GeneticVariation | 0.1 | disgenet |
| Polymicrogyria | ZNHIT3 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | TP53RK | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | CCND2 | disease | C0266464 | Biomarker | 0.1 | orphanet , disgenet |
| Polymicrogyria | GNB1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | LAGE3 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | EML1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | PEX5 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | PEX11B | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | PEX19 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | KIAA0586 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | IBA57 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | SCN3A | disease | C0266464 | GeneticVariation | 0.1 | disgenet |
| Polymicrogyria | CCDC88A | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | GPHN | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | TUSC3 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | POMK | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | PEX3 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | C12orf4 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | BMPER | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | PIGC | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | SRD5A3 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | PDHA1 | disease | C0266464 | GeneticVariation | 0.1 | disgenet |
| Polymicrogyria | ARMC9 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | PEX10 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | PEX14 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | NSUN2 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | PEX16 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | FBXO31 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | ATP6V1A | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | RAB18 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | PGAP1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | EZR | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | TMEM67 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | ACTG1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | MED23 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | KLHL15 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | SRD5A3 | disease | C0266464 | CausalMutation | 0.1 | disgenet |
| Polymicrogyria | MED25 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | ERMARD | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | TBC1D24 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | PEX12 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | CEP41 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | HYLS1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | CRADD | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | POLR3A | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | PRSS12 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | TMTC3 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | MAN1B1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | ST3GAL3 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | TRRAP | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | RXYLT1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | NSDHL | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | PIBF1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | CPLANE1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | DCPS | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | NDST1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | HNMT | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | ATP6V0A2 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | CEP120 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | NPHP1 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | C2CD3 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | DYNC1H1 | disease | C0266464 | GeneticVariation | 0.1 | disgenet |
| Polymicrogyria | GPSM2 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | DHCR24 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | SCN1A | disease | C0266464 | CausalMutation | 0.1 | disgenet |
| Polymicrogyria | RPGRIP1L | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | WARS2 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | PEX13 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | WASHC4 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | EDC3 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | FRRS1L | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | B3GALNT2 | disease | C0266464 | Biomarker | 0.1 | disgenet |
| Polymicrogyria | SRPX2 | disease | C0266464 | GeneticVariation | 0.04 | disgenet |
| Polymicrogyria | GRIN1 | disease | C0266464 | Biomarker | 0.02 | orphanet , disgenet |
| Polymicrogyria | GRIN1 | disease | C0266464 | GeneticVariation | 0.02 | orphanet , disgenet |
| Polymicrogyria | PIK3CD | disease | C0266464 | Biomarker | 0.02 | disgenet |
| Polymicrogyria | PIK3CB | disease | C0266464 | GeneticVariation | 0.02 | disgenet |
| Polymicrogyria | PIK3CD | disease | C0266464 | GeneticVariation | 0.02 | disgenet |
| Polymicrogyria | PIK3CB | disease | C0266464 | Biomarker | 0.02 | disgenet |
| Polymicrogyria | AKT1 | disease | C0266464 | GeneticVariation | 0.02 | disgenet |
| Polymicrogyria | PIK3CG | disease | C0266464 | Biomarker | 0.02 | disgenet |
| Polymicrogyria | PIK3CG | disease | C0266464 | GeneticVariation | 0.02 | disgenet |
| Polymicrogyria | AKT1 | disease | C0266464 | Biomarker | 0.02 | disgenet |
| Polymicrogyria | SEPTIN5 | disease | C0266464 | Biomarker | 0.01 | disgenet |
| Polymicrogyria | MAP1B | disease | C0266464 | Biomarker | 0.01 | disgenet |
| Polymicrogyria | DOCK6 | disease | C0266464 | GeneticVariation | 0.01 | disgenet |
| Polymicrogyria | MPL | disease | C0266464 | GeneticVariation | 0.01 | disgenet |
| Polymicrogyria | PMP22 | disease | C0266464 | GeneticVariation | 0.01 | disgenet |
| Polymicrogyria | SHC2 | disease | C0266464 | Biomarker | 0.01 | disgenet |
| Polymicrogyria | TUBB | disease | C0266464 | GeneticVariation | 0.01 | disgenet |
| Polymicrogyria | NEDD4L | disease | C0266464 | GeneticVariation | 0.01 | disgenet |
| Polymicrogyria | ARX | disease | C0266464 | GeneticVariation | 0.01 | disgenet |
| Polymicrogyria | TUBB4A | disease | C0266464 | GeneticVariation | 0.01 | disgenet |
| Polymicrogyria | PLAUR | disease | C0266464 | GeneticVariation | 0.01 | disgenet |
| Polymicrogyria | ENG | disease | C0266464 | GeneticVariation | 0.01 | disgenet |
| Polymicrogyria | HTC2 | disease | C0266464 | GeneticVariation | 0.01 | disgenet |
| Polymicrogyria | POLR3B | disease | C0266464 | GeneticVariation | 0.01 | disgenet |
| Polymicrogyria | LAMA2 | disease | C0266464 | GeneticVariation | 0.01 | disgenet |
| Polymicrogyria | ADAMTS4 | disease | C0266464 | GeneticVariation | 0.01 | disgenet |
| Polymicrogyria | IGF1 | disease | C0266464 | AlteredExpression | 0.01 | disgenet |
| Polymicrogyria | NHEJ1 | disease | C0266464 | Biomarker | 0.01 | disgenet |
| Polymicrogyria | PRICKLE1 | disease | C0266464 | GeneticVariation | 0.01 | disgenet |
| Polymicrogyria | TUBA1B | disease | C0266464 | GeneticVariation | 0.01 | disgenet |
| Polymicrogyria | ITSN1 | disease | C0266464 | Biomarker | 0.01 | disgenet |
| Polymicrogyria | GFM1 | disease | C0266464 | GeneticVariation | 0.01 | disgenet |
| Polymicrogyria | TH | disease | C0266464 | Biomarker | 0.01 | disgenet |
| Polymicrogyria | CTSB | disease | C0266464 | GeneticVariation | 0.01 | disgenet |
| Polymicrogyria | FGD1 | disease | C0266464 | GeneticVariation | 0.01 | disgenet |
| Polymicrogyria | FLNA | disease | C0266464 | GeneticVariation | 0.01 | disgenet |
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