| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Blepharophimoses | FOXL2 | disease | C0005744 | AlteredExpression | 0.2 | orphanet , disgenet |
| Blepharophimoses | FOXL2 | disease | C0005744 | Biomarker | 0.2 | orphanet , disgenet |
| Blepharophimoses | FOXL2 | disease | C0005744 | GeneticVariation | 0.2 | orphanet , disgenet |
| Blepharophimoses | KAT6B | disease | C0005744 | GeneticVariation | 0.13 | disgenet |
| Blepharophimoses | KAT6B | disease | C0005744 | Biomarker | 0.13 | disgenet |
| Blepharophimoses | KAT6B | disease | C0005744 | CausalMutation | 0.13 | disgenet |
| Blepharophimoses | BRPF1 | disease | C0005744 | Biomarker | 0.11 | disgenet |
| Blepharophimoses | BRPF1 | disease | C0005744 | GeneticVariation | 0.11 | disgenet |
| Blepharophimoses | ATR | disease | C0005744 | Biomarker | 0.11 | disgenet |
| Blepharophimoses | ATR | disease | C0005744 | GeneticVariation | 0.11 | disgenet |
| Blepharophimoses | ORC1 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | LMNA | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | DNMT3A | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | CHN1 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | PIEZO2 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | BCR | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | RFC2 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | BCOR | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | ESS2 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | MCTP2 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | MYCN | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | MED25 | disease | C0005744 | GeneticVariation | 0.1 | disgenet |
| Blepharophimoses | TLK2 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | MAFB | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | TBL2 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | SEPTIN9 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | ZMPSTE24 | disease | C0005744 | CausalMutation | 0.1 | disgenet |
| Blepharophimoses | MOGS | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | ZMPSTE24 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | GPKOW | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | CUL4B | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | PAX3 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | MAPK1 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | GATAD2B | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | KANSL1 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | TBX1 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | SMARCA2 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | SMAD4 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | GTF2IRD1 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | SCARF2 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | ERCC6 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | SLC6A17 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | GTF2I | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | MECP2 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | DACT1 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | HSPG2 | disease | C0005744 | GeneticVariation | 0.1 | disgenet |
| Blepharophimoses | ARID2 | disease | C0005744 | CausalMutation | 0.1 | disgenet |
| Blepharophimoses | DGCR8 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | WDR35 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | THOC6 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | SETD5 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | KCNJ2 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | RBMX | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | HUWE1 | disease | C0005744 | GeneticVariation | 0.1 | disgenet |
| Blepharophimoses | COLEC11 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | LIG4 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | LIMK1 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | HHAT | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | ATP6V1A | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | NFIB | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | GJA1 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | FAT4 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | ERF | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | MED25 | disease | C0005744 | CausalMutation | 0.1 | disgenet |
| Blepharophimoses | TBX15 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | MED12 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | ELN | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | RAB18 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | HSPG2 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | COLEC10 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | DGCR6 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | RECQL4 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | BRCA1 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | NSUN2 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | CRKL | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | ABCC9 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | HUWE1 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | MLXIPL | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | SLC2A10 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | SALL1 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | MYH3 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | PHF6 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | KRAS | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | SMO | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | STAC3 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | ERCC1 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | TP63 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | FOXG1 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | ANK1 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | TXNL4A | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | PYCR1 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | KMT2A | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | GPC6 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | ARID1B | disease | C0005744 | CausalMutation | 0.1 | disgenet |
| Blepharophimoses | TP63 | disease | C0005744 | CausalMutation | 0.1 | disgenet |
| Blepharophimoses | CLIP2 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | DCHS1 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | UBE3B | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | MUSK | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | MASP1 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | STRA6 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | COL25A1 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | BAZ1B | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | DGCR2 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | SMOC1 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | SOX9 | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | TUBB | disease | C0005744 | Biomarker | 0.1 | disgenet |
| Blepharophimoses | UROD | disease | C0005744 | Biomarker | 0.02 | disgenet |
| Blepharophimoses | UROD | disease | C0005744 | GeneticVariation | 0.02 | disgenet |
| Blepharophimoses | HNF1B | disease | C0005744 | GeneticVariation | 0.02 | disgenet |
| Blepharophimoses | SOX14 | disease | C0005744 | Biomarker | 0.01 | disgenet |
| Blepharophimoses | PIK3CB | disease | C0005744 | GeneticVariation | 0.01 | disgenet |
| Blepharophimoses | OXA1L | disease | C0005744 | GeneticVariation | 0.01 | disgenet |
| Blepharophimoses | ALB | disease | C0005744 | GeneticVariation | 0.01 | disgenet |
| Blepharophimoses | TRA | disease | C0005744 | GeneticVariation | 0.01 | disgenet |
| Blepharophimoses | ADNP | disease | C0005744 | GeneticVariation | 0.01 | disgenet |
| Blepharophimoses | ZIC4 | disease | C0005744 | Biomarker | 0.01 | disgenet |
| Blepharophimoses | FOXP1 | disease | C0005744 | GeneticVariation | 0.01 | disgenet |
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