Disease Information | ||||||
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Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Telecanthus | PAX3 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | SMC1A | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | UBA5 | phenotype | C0423113 | CausalMutation | 0.1 | disgenet |
Telecanthus | NOTCH2 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | COL5A2 | phenotype | C0423113 | GeneticVariation | 0.1 | disgenet |
Telecanthus | BPTF | phenotype | C0423113 | CausalMutation | 0.1 | disgenet |
Telecanthus | OFD1 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | STAC3 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | FBN1 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | ADAT3 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | RPS6KA3 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | PIK3R1 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | CCNQ | phenotype | C0423113 | Biomarker | 0.1 | orphanet , disgenet |
Telecanthus | KAT6B | phenotype | C0423113 | GeneticVariation | 0.1 | disgenet |
Telecanthus | ATP6V1B2 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | COL11A1 | phenotype | C0423113 | GeneticVariation | 0.1 | disgenet |
Telecanthus | PITX2 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | DDHD2 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | KMT2A | phenotype | C0423113 | CausalMutation | 0.1 | disgenet |
Telecanthus | RNF125 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | ETFDH | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | IFT122 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | EFNB1 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | CNTNAP2 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | WDR35 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | CCND2 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | GJA1 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | CDK10 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | H1-4 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | C12orf57 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | CRIPT | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | CDH11 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | GLI3 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | ANKH | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | FGFR2 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | KITLG | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | USP9X | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | KIFBP | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | UBA5 | phenotype | C0423113 | GeneticVariation | 0.1 | disgenet |
Telecanthus | TRAF7 | phenotype | C0423113 | CausalMutation | 0.1 | disgenet |
Telecanthus | CHRNG | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | MAP2K2 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | ZSWIM6 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | FGFR1 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | COL3A1 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | ANKLE2 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | KCNH1 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | EBP | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | ASXL2 | phenotype | C0423113 | CausalMutation | 0.1 | disgenet |
Telecanthus | HNRNPU | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | ACTB | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | B4GALT7 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | ARL3 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | DOCK7 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | TAPT1 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | HIRA | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | PTCH1 | phenotype | C0423113 | CausalMutation | 0.1 | disgenet |
Telecanthus | EDN3 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | DSE | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | MAP3K7 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | PTCH2 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | SKI | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | XRCC4 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | FGF10 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | SLC26A2 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | COLEC10 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | TBL1XR1 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | KCTD1 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | NRXN1 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | CHST14 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | KMT2A | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | GPRASP2 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | NEK1 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | ANKRD11 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | SNAI2 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | FLNB | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | NSUN2 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | FUCA1 | phenotype | C0423113 | CausalMutation | 0.1 | disgenet |
Telecanthus | FOXL2 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | RAF1 | phenotype | C0423113 | GeneticVariation | 0.1 | disgenet |
Telecanthus | MASP1 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | HRAS | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | MID1 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | COLEC11 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | KDM6B | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | ETFB | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | RAB23 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | AKT3 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | NRAS | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | NPHP3-ACAD11 | phenotype | C0423113 | CausalMutation | 0.1 | disgenet |
Telecanthus | FGFR3 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | SUFU | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | TWIST2 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | IFT52 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | PAX3 | phenotype | C0423113 | GeneticVariation | 0.1 | disgenet |
Telecanthus | MAFB | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | UBE3B | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | FLNA | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | HECW2 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | VPS33A | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | LIG4 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | ERF | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | RREB1 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | ALX4 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | HDAC8 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | C2CD3 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | ZMPSTE24 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | PTCH1 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | MUSK | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | SEC24C | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | ARVCF | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | PIK3R2 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | NPHP3-ACAD11 | phenotype | C0423113 | GeneticVariation | 0.1 | disgenet |
Telecanthus | JMJD1C | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | ETFA | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | SRCAP | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | LMNA | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | ALG9 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | TLK2 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | TBX1 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | FOXC1 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | MITF | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | EFTUD2 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | PTH1R | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | COMT | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | TFAP2A | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | GP1BB | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | ADAMTS18 | phenotype | C0423113 | Biomarker | 0.1 | orphanet , disgenet |
Telecanthus | UFD1 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | ATRX | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | SPECC1L | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | ZNF148 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | MYH3 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | EDNRB | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | SOX10 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | GJB2 | phenotype | C0423113 | CausalMutation | 0.1 | disgenet |
Telecanthus | ACTG1 | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | KRAS | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
Telecanthus | HHAT | phenotype | C0423113 | Biomarker | 0.1 | disgenet |
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