Disease Information
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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