Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Macroglossia MED13L disease C0024421 Biomarker 0.11 disgenet
Macroglossia MED13L disease C0024421 GeneticVariation 0.11 disgenet
Macroglossia H19-ICR disease C0024421 PosttranslationalModification 0.11 disgenet
Macroglossia CDKN1C disease C0024421 Biomarker 0.11 disgenet
Macroglossia CDKN1C disease C0024421 GeneticVariation 0.11 disgenet
Macroglossia H19-ICR disease C0024421 Biomarker 0.11 disgenet
Macroglossia GNPTAB disease C0024421 Biomarker 0.1 disgenet
Macroglossia PQBP1 disease C0024421 Biomarker 0.1 disgenet
Macroglossia KCNH1 disease C0024421 Biomarker 0.1 disgenet
Macroglossia CRPPA disease C0024421 Biomarker 0.1 disgenet
Macroglossia CDCA7 disease C0024421 Biomarker 0.1 disgenet
Macroglossia ATP6V1B2 disease C0024421 Biomarker 0.1 disgenet
Macroglossia FOXE1 disease C0024421 Biomarker 0.1 disgenet
Macroglossia LARGE1 disease C0024421 Biomarker 0.1 disgenet
Macroglossia HYMAI disease C0024421 Biomarker 0.1 disgenet
Macroglossia FIBP disease C0024421 Biomarker 0.1 disgenet
Macroglossia LIMK1 disease C0024421 Biomarker 0.1 disgenet
Macroglossia ARSB disease C0024421 Biomarker 0.1 disgenet
Macroglossia ATRX disease C0024421 Biomarker 0.1 disgenet
Macroglossia PSMB8 disease C0024421 Biomarker 0.1 disgenet
Macroglossia LAMA2 disease C0024421 Biomarker 0.1 disgenet
Macroglossia TRMU disease C0024421 Biomarker 0.1 disgenet
Macroglossia IDUA disease C0024421 Biomarker 0.1 disgenet
Macroglossia PIK3CA disease C0024421 Biomarker 0.1 disgenet
Macroglossia DUOX2 disease C0024421 Biomarker 0.1 disgenet
Macroglossia POMK disease C0024421 Biomarker 0.1 disgenet
Macroglossia SMARCA4 disease C0024421 Biomarker 0.1 disgenet
Macroglossia PTEN disease C0024421 Biomarker 0.1 disgenet
Macroglossia SLC26A4 disease C0024421 Biomarker 0.1 disgenet
Macroglossia IGF2 disease C0024421 Biomarker 0.1 disgenet
Macroglossia PIK3C2A disease C0024421 Biomarker 0.1 disgenet
Macroglossia ELN disease C0024421 Biomarker 0.1 disgenet
Macroglossia HRAS disease C0024421 Biomarker 0.1 disgenet
Macroglossia SETBP1 disease C0024421 Biomarker 0.1 disgenet
Macroglossia GAA disease C0024421 Biomarker 0.1 disgenet
Macroglossia CCDC47 disease C0024421 Biomarker 0.1 disgenet
Macroglossia VPS33A disease C0024421 Biomarker 0.1 disgenet
Macroglossia PIGW disease C0024421 Biomarker 0.1 disgenet
Macroglossia FDX2 disease C0024421 Biomarker 0.1 disgenet
Macroglossia POMT2 disease C0024421 Biomarker 0.1 disgenet
Macroglossia SDHB disease C0024421 Biomarker 0.1 disgenet
Macroglossia SMARCB1 disease C0024421 Biomarker 0.1 disgenet
Macroglossia AKT1 disease C0024421 Biomarker 0.1 disgenet
Macroglossia ERLIN2 disease C0024421 Biomarker 0.1 disgenet
Macroglossia PIGS disease C0024421 Biomarker 0.1 disgenet
Macroglossia TG disease C0024421 Biomarker 0.1 disgenet
Macroglossia SLC5A5 disease C0024421 Biomarker 0.1 disgenet
Macroglossia TBL2 disease C0024421 Biomarker 0.1 disgenet
Macroglossia ROR2 disease C0024421 Biomarker 0.1 disgenet
Macroglossia INPP5E disease C0024421 Biomarker 0.1 disgenet
Macroglossia IDS disease C0024421 Biomarker 0.1 disgenet
Macroglossia PEX1 disease C0024421 Biomarker 0.1 disgenet
Macroglossia IFT140 disease C0024421 Biomarker 0.1 disgenet
Macroglossia DUOXA2 disease C0024421 Biomarker 0.1 disgenet
Macroglossia DVL3 disease C0024421 Biomarker 0.1 disgenet
Macroglossia PAX8 disease C0024421 Biomarker 0.1 disgenet
Macroglossia EHMT1 disease C0024421 Biomarker 0.1 disgenet
Macroglossia GATA1 disease C0024421 Biomarker 0.1 disgenet
Macroglossia ARID1A disease C0024421 Biomarker 0.1 disgenet
Macroglossia NKX2-5 disease C0024421 Biomarker 0.1 disgenet
Macroglossia FUCA1 disease C0024421 Biomarker 0.1 disgenet
Macroglossia FOXG1 disease C0024421 Biomarker 0.1 disgenet
Macroglossia ABCC9 disease C0024421 Biomarker 0.1 disgenet
Macroglossia TRAF3IP2 disease C0024421 Biomarker 0.1 disgenet
Macroglossia MAP2K1 disease C0024421 GeneticVariation 0.1 disgenet
Macroglossia AMPD2 disease C0024421 Biomarker 0.1 disgenet
Macroglossia SDHC disease C0024421 Biomarker 0.1 disgenet
Macroglossia WNT5A disease C0024421 Biomarker 0.1 disgenet
Macroglossia POU1F1 disease C0024421 Biomarker 0.1 disgenet
Macroglossia IYD disease C0024421 Biomarker 0.1 disgenet
Macroglossia ACTB disease C0024421 Biomarker 0.1 disgenet
Macroglossia PLAGL1 disease C0024421 Biomarker 0.1 disgenet
Macroglossia RNF125 disease C0024421 Biomarker 0.1 disgenet
Macroglossia RFC2 disease C0024421 Biomarker 0.1 disgenet
Macroglossia AIP disease C0024421 Biomarker 0.1 disgenet
Macroglossia GTF2I disease C0024421 Biomarker 0.1 disgenet
Macroglossia TPO disease C0024421 Biomarker 0.1 disgenet
Macroglossia TRNW disease C0024421 Biomarker 0.1 disgenet
Macroglossia AGA disease C0024421 Biomarker 0.1 disgenet
Macroglossia BAZ1B disease C0024421 Biomarker 0.1 disgenet
Macroglossia KCNQ1 disease C0024421 Biomarker 0.1 disgenet
Macroglossia SGCG disease C0024421 Biomarker 0.1 disgenet
Macroglossia TRNE disease C0024421 Biomarker 0.1 disgenet
Macroglossia TRHR disease C0024421 Biomarker 0.1 disgenet
Macroglossia FKRP disease C0024421 Biomarker 0.1 disgenet
Macroglossia DNMT3B disease C0024421 Biomarker 0.1 disgenet
Macroglossia GPR101 disease C0024421 Biomarker 0.1 disgenet
Macroglossia MAN2B1 disease C0024421 Biomarker 0.1 disgenet
Macroglossia GMPPB disease C0024421 Biomarker 0.1 disgenet
Macroglossia SEC23B disease C0024421 Biomarker 0.1 disgenet
Macroglossia CUL4B disease C0024421 Biomarker 0.1 disgenet
Macroglossia DVL1 disease C0024421 Biomarker 0.1 disgenet
Macroglossia ALG8 disease C0024421 CausalMutation 0.1 disgenet
Macroglossia TSHB disease C0024421 Biomarker 0.1 disgenet
Macroglossia ZBTB24 disease C0024421 Biomarker 0.1 disgenet
Macroglossia SNIP1 disease C0024421 Biomarker 0.1 disgenet
Macroglossia GTF2IRD1 disease C0024421 Biomarker 0.1 disgenet
Macroglossia TSHR disease C0024421 Biomarker 0.1 disgenet
Macroglossia POMGNT1 disease C0024421 Biomarker 0.1 disgenet
Macroglossia THRA disease C0024421 Biomarker 0.1 disgenet
Macroglossia KCNQ1OT1 disease C0024421 Biomarker 0.1 disgenet
Macroglossia GPC4 disease C0024421 Biomarker 0.1 disgenet
Macroglossia NKX2-1 disease C0024421 Biomarker 0.1 disgenet
Macroglossia CLIP2 disease C0024421 Biomarker 0.1 disgenet
Macroglossia THRB disease C0024421 Biomarker 0.1 disgenet
Macroglossia FTO disease C0024421 Biomarker 0.1 disgenet
Macroglossia HELLS disease C0024421 Biomarker 0.1 disgenet
Macroglossia SDHD disease C0024421 Biomarker 0.1 disgenet
Macroglossia GPC3 disease C0024421 Biomarker 0.1 disgenet
Macroglossia UBE3A disease C0024421 Biomarker 0.1 disgenet
Macroglossia KLLN disease C0024421 Biomarker 0.1 disgenet
Macroglossia H19 disease C0024421 Biomarker 0.1 disgenet
Macroglossia HEXB disease C0024421 Biomarker 0.1 disgenet
Macroglossia POMT1 disease C0024421 Biomarker 0.1 disgenet
Macroglossia CTSC disease C0024421 Biomarker 0.01 disgenet
Macroglossia SPRY2 disease C0024421 GeneticVariation 0.01 disgenet
Macroglossia NT5E disease C0024421 Biomarker 0.01 disgenet
Macroglossia HTC2 disease C0024421 Biomarker 0.01 disgenet
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