Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Arthrogryposes MYO9A disease C0003886 Biomarker 0.6 disgenet
Arthrogryposes VPS8 disease C0003886 Biomarker 0.5 disgenet
Arthrogryposes VPS33B disease C0003886 GeneticVariation 0.46 disgenet
Arthrogryposes VPS33B disease C0003886 Biomarker 0.46 disgenet
Arthrogryposes TPM2 disease C0003886 GeneticVariation 0.44 disgenet
Arthrogryposes TPM2 disease C0003886 Biomarker 0.44 disgenet
Arthrogryposes MYH3 disease C0003886 Biomarker 0.43 disgenet
Arthrogryposes MYH3 disease C0003886 GeneticVariation 0.43 disgenet
Arthrogryposes BICD2 disease C0003886 Biomarker 0.43 disgenet
Arthrogryposes BICD2 disease C0003886 GeneticVariation 0.43 disgenet
Arthrogryposes VIPAS39 disease C0003886 Biomarker 0.43 disgenet
Arthrogryposes VIPAS39 disease C0003886 GeneticVariation 0.43 disgenet
Arthrogryposes TNNI2 disease C0003886 GeneticVariation 0.42 disgenet
Arthrogryposes LGI4 disease C0003886 Biomarker 0.42 orphanet , disgenet
Arthrogryposes CHRNG disease C0003886 Biomarker 0.42 disgenet
Arthrogryposes LGI4 disease C0003886 GeneticVariation 0.42 orphanet , disgenet
Arthrogryposes TNNI2 disease C0003886 Biomarker 0.42 disgenet
Arthrogryposes SLC18A3 disease C0003886 Biomarker 0.42 disgenet
Arthrogryposes SLC18A3 disease C0003886 GeneticVariation 0.42 disgenet
Arthrogryposes CHRNG disease C0003886 GeneticVariation 0.42 disgenet
Arthrogryposes ATP1A2 disease C0003886 Biomarker 0.4 disgenet
Arthrogryposes ASCC1 disease C0003886 Biomarker 0.4 disgenet
Arthrogryposes ATP1A2 disease C0003886 GeneticVariation 0.4 disgenet
Arthrogryposes ERCC6 disease C0003886 Biomarker 0.4 disgenet
Arthrogryposes MAGEL2 disease C0003886 Biomarker 0.35 disgenet
Arthrogryposes MAGEL2 disease C0003886 GeneticVariation 0.35 disgenet
Arthrogryposes SMN1 disease C0003886 Biomarker 0.34 disgenet
Arthrogryposes SMN1 disease C0003886 GeneticVariation 0.34 disgenet
Arthrogryposes DYNC1H1 disease C0003886 GeneticVariation 0.32 disgenet
Arthrogryposes TTN disease C0003886 Biomarker 0.32 disgenet
Arthrogryposes TTN disease C0003886 GeneticVariation 0.32 disgenet
Arthrogryposes DYNC1H1 disease C0003886 Biomarker 0.32 disgenet
Arthrogryposes L1CAM disease C0003886 Biomarker 0.31 disgenet
Arthrogryposes L1CAM disease C0003886 GeneticVariation 0.31 disgenet
Arthrogryposes TNNT3 disease C0003886 GeneticVariation 0.31 disgenet
Arthrogryposes TNNT3 disease C0003886 Biomarker 0.31 disgenet
Arthrogryposes GFM2 disease C0003886 Biomarker 0.31 disgenet
Arthrogryposes GFM2 disease C0003886 GeneticVariation 0.31 disgenet
Arthrogryposes CNTNAP1 disease C0003886 Biomarker 0.14 orphanet , disgenet
Arthrogryposes ZC4H2 disease C0003886 GeneticVariation 0.14 disgenet
Arthrogryposes ECEL1 disease C0003886 GeneticVariation 0.14 orphanet , disgenet
Arthrogryposes CNTNAP1 disease C0003886 GeneticVariation 0.14 orphanet , disgenet
Arthrogryposes ECEL1 disease C0003886 Biomarker 0.14 orphanet , disgenet
Arthrogryposes ZC4H2 disease C0003886 Biomarker 0.14 disgenet
Arthrogryposes CNTNAP1 disease C0003886 CausalMutation 0.14 orphanet , disgenet
Arthrogryposes PIEZO2 disease C0003886 GeneticVariation 0.13 orphanet , disgenet
Arthrogryposes PIEZO2 disease C0003886 Biomarker 0.13 orphanet , disgenet
Arthrogryposes PIEZO2 disease C0003886 CausalMutation 0.13 orphanet , disgenet
Arthrogryposes MYBPC1 disease C0003886 Biomarker 0.13 orphanet , disgenet
Arthrogryposes MYBPC1 disease C0003886 GeneticVariation 0.13 orphanet , disgenet
Arthrogryposes RYR1 disease C0003886 CausalMutation 0.13 disgenet
Arthrogryposes RYR1 disease C0003886 GeneticVariation 0.13 disgenet
Arthrogryposes GLE1 disease C0003886 Biomarker 0.12 orphanet , disgenet
Arthrogryposes GLE1 disease C0003886 GeneticVariation 0.12 orphanet , disgenet
Arthrogryposes SLC35A3 disease C0003886 GeneticVariation 0.12 orphanet , disgenet
Arthrogryposes SLC35A3 disease C0003886 Biomarker 0.12 orphanet , disgenet
Arthrogryposes SYNE1 disease C0003886 GeneticVariation 0.12 orphanet , disgenet
Arthrogryposes SYNE1 disease C0003886 Biomarker 0.12 orphanet , disgenet
Arthrogryposes ADCY6 disease C0003886 GeneticVariation 0.11 orphanet , disgenet
Arthrogryposes FKBP10 disease C0003886 GeneticVariation 0.11 disgenet
Arthrogryposes MYH8 disease C0003886 GeneticVariation 0.11 disgenet
Arthrogryposes ERCC5 disease C0003886 GeneticVariation 0.11 disgenet
Arthrogryposes KIAA1109 disease C0003886 GeneticVariation 0.11 orphanet , disgenet
Arthrogryposes FBN2 disease C0003886 GeneticVariation 0.11 disgenet
Arthrogryposes SLC5A7 disease C0003886 GeneticVariation 0.11 disgenet
Arthrogryposes ADCY6 disease C0003886 Biomarker 0.11 orphanet , disgenet
Arthrogryposes MYH8 disease C0003886 Biomarker 0.11 disgenet
Arthrogryposes PI4KA disease C0003886 GeneticVariation 0.11 disgenet
Arthrogryposes FKBP10 disease C0003886 Biomarker 0.11 disgenet
Arthrogryposes NEB disease C0003886 Biomarker 0.11 disgenet
Arthrogryposes FBN2 disease C0003886 Biomarker 0.11 disgenet
Arthrogryposes SLC5A7 disease C0003886 Biomarker 0.11 disgenet
Arthrogryposes KIAA1109 disease C0003886 Biomarker 0.11 orphanet , disgenet
Arthrogryposes PI4KA disease C0003886 Biomarker 0.11 disgenet
Arthrogryposes ADGRG6 disease C0003886 CausalMutation 0.11 disgenet
Arthrogryposes ERGIC1 disease C0003886 Biomarker 0.11 orphanet , disgenet
Arthrogryposes ADGRG6 disease C0003886 GeneticVariation 0.11 disgenet
Arthrogryposes ERGIC1 disease C0003886 GeneticVariation 0.11 orphanet , disgenet
Arthrogryposes ERCC5 disease C0003886 Biomarker 0.11 disgenet
Arthrogryposes ERBB3 disease C0003886 Biomarker 0.11 disgenet
Arthrogryposes GBA disease C0003886 AlteredExpression 0.11 disgenet
Arthrogryposes ERBB3 disease C0003886 GeneticVariation 0.11 disgenet
Arthrogryposes HSPG2 disease C0003886 Biomarker 0.11 disgenet
Arthrogryposes GBA disease C0003886 Biomarker 0.11 disgenet
Arthrogryposes MYPN disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes COL13A1 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes TSEN54 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes SLC25A1 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes TRNH disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes ASPM disease C0003886 GeneticVariation 0.1 disgenet
Arthrogryposes REV3L disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes GCK disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes PLAGL1 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes TRPV4 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes STAT3 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes MYOD1 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes STAC3 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes CEP55 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes SNAP25 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes ZNHIT3 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes ABCC8 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes ERCC2 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes GBE1 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes FZD3 disease C0003886 GeneticVariation 0.1 disgenet
Arthrogryposes ITGA6 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes CACNA1E disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes TRNS1 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes DHCR24 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes PLXND1 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes KBTBD13 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes MUSK disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes TPM3 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes COX1 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes KLHL41 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes TBCD disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes AGRN disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes KIF1A disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes UBA1 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes ND4 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes LMOD3 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes AIMP1 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes TRNW disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes PPP3CA disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes PLOD2 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes PIGS disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes ND5 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes PSMB8 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes ERCC1 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes SLC6A9 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes GLDN disease C0003886 GeneticVariation 0.1 disgenet
Arthrogryposes KCNJ11 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes KIF5C disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes SCN5A disease C0003886 GeneticVariation 0.1 disgenet
Arthrogryposes TRIP4 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes CFL2 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes NUP88 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes CHRNA1 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes ZFP57 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes TRNF disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes SETBP1 disease C0003886 CausalMutation 0.1 disgenet
Arthrogryposes ALG3 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes COX2 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes CHAT disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes PHGDH disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes HYMAI disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes KAT6B disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes VAMP1 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes GBE1 disease C0003886 GeneticVariation 0.1 disgenet
Arthrogryposes PSAT1 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes AUTS2 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes SEPSECS disease C0003886 GeneticVariation 0.1 disgenet
Arthrogryposes CDK5 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes LMNA disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes SYT2 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes ND6 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes SHPK disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes RAPSN disease C0003886 CausalMutation 0.1 disgenet
Arthrogryposes TRNL1 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes KLHL40 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes NEK9 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes ZNF335 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes SOX10 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes IBA57 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes SLC9A6 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes KIF14 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes GFPT1 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes ACTA1 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes PIP5K1C disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes INS disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes DOK7 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes ITGB4 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes RAPSN disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes ZMPSTE24 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes COX3 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes TRNQ disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes C12orf65 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes MECP2 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes IL2RB disease C0003886 CausalMutation 0.1 disgenet
Arthrogryposes CHST14 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes CHRNE disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes TRNS2 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes ROR2 disease C0003886 GeneticVariation 0.1 disgenet
Arthrogryposes RFT1 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes PLEC disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes PDX1 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes ND1 disease C0003886 Biomarker 0.1 disgenet
Arthrogryposes SMN2 disease C0003886 GeneticVariation 0.04 disgenet
Arthrogryposes SMN2 disease C0003886 Biomarker 0.04 disgenet
Arthrogryposes SNURF disease C0003886 GeneticVariation 0.03 disgenet
Arthrogryposes SNURF disease C0003886 Biomarker 0.03 disgenet
Arthrogryposes STMN1 disease C0003886 Biomarker 0.03 disgenet
Arthrogryposes STMN1 disease C0003886 GeneticVariation 0.03 disgenet
Arthrogryposes SNRPN disease C0003886 Biomarker 0.03 disgenet
Arthrogryposes SNRPN disease C0003886 GeneticVariation 0.03 disgenet
Arthrogryposes TOR1A disease C0003886 GeneticVariation 0.02 disgenet
Arthrogryposes COL2A1 disease C0003886 Biomarker 0.02 disgenet
Arthrogryposes NALCN disease C0003886 GeneticVariation 0.02 disgenet
Arthrogryposes COL2A1 disease C0003886 GeneticVariation 0.02 disgenet
Arthrogryposes PRH1 disease C0003886 Biomarker 0.01 disgenet
Arthrogryposes CPNE8 disease C0003886 Biomarker 0.01 disgenet
Arthrogryposes SMPD4 disease C0003886 Biomarker 0.01 disgenet
Arthrogryposes FBP1 disease C0003886 GeneticVariation 0.01 disgenet
Arthrogryposes SCN8A disease C0003886 Biomarker 0.01 disgenet
Arthrogryposes P2RX7 disease C0003886 AlteredExpression 0.01 disgenet
Arthrogryposes UTRN disease C0003886 Biomarker 0.01 disgenet
Arthrogryposes MYH2 disease C0003886 GeneticVariation 0.01 disgenet
Arthrogryposes FOLR1 disease C0003886 GeneticVariation 0.01 disgenet
Arthrogryposes PDHA1 disease C0003886 GeneticVariation 0.01 disgenet
Arthrogryposes COG8 disease C0003886 Biomarker 0.01 disgenet
Arthrogryposes ABCA7 disease C0003886 GeneticVariation 0.01 disgenet
Arthrogryposes FOLR2 disease C0003886 GeneticVariation 0.01 disgenet
Arthrogryposes AR disease C0003886 Biomarker 0.01 disgenet
Arthrogryposes PRH2 disease C0003886 Biomarker 0.01 disgenet
Arthrogryposes ERBB2 disease C0003886 AlteredExpression 0.01 disgenet
Arthrogryposes FBN3 disease C0003886 GeneticVariation 0.01 disgenet
Arthrogryposes PLF disease C0003886 Biomarker 0.01 disgenet
Arthrogryposes CTSL disease C0003886 Biomarker 0.01 disgenet
Arthrogryposes HRAS disease C0003886 GeneticVariation 0.01 disgenet
Arthrogryposes CNTN1 disease C0003886 GeneticVariation 0.01 disgenet
Arthrogryposes AMCN disease C0003886 Biomarker 0.01 disgenet
Arthrogryposes TUBA8 disease C0003886 Biomarker 0.01 disgenet
Arthrogryposes COASY disease C0003886 GeneticVariation 0.01 disgenet
Arthrogryposes EOMES disease C0003886 Biomarker 0.01 disgenet
Arthrogryposes SDC2 disease C0003886 Biomarker 0.01 disgenet
Arthrogryposes PIP disease C0003886 Biomarker 0.01 disgenet
Arthrogryposes TSC1 disease C0003886 GeneticVariation 0.01 disgenet
Arthrogryposes ECB2 disease C0003886 GeneticVariation 0.01 disgenet
Arthrogryposes TUBB2A disease C0003886 GeneticVariation 0.01 disgenet
Arthrogryposes IS1 disease C0003886 Biomarker 0.01 disgenet
Arthrogryposes TGFBR2 disease C0003886 GeneticVariation 0.01 disgenet
Arthrogryposes UNC50 disease C0003886 GeneticVariation 0.01 disgenet
Arthrogryposes KIF26B disease C0003886 GeneticVariation 0.01 disgenet
Arthrogryposes RAB14 disease C0003886 GeneticVariation 0.01 disgenet
Arthrogryposes P2RX4 disease C0003886 AlteredExpression 0.01 disgenet
Arthrogryposes GBAP1 disease C0003886 AlteredExpression 0.01 disgenet
Arthrogryposes AVPR2 disease C0003886 Biomarker 0.01 disgenet
Arthrogryposes TP63 disease C0003886 Biomarker 0.01 disgenet
Arthrogryposes DPAGT1 disease C0003886 Biomarker 0.01 disgenet
Arthrogryposes ARC disease C0003886 Biomarker 0.01 disgenet
Arthrogryposes ATAD1 disease C0003886 GeneticVariation 0.01 disgenet
Arthrogryposes USP18 disease C0003886 Biomarker 0.01 disgenet
Arthrogryposes FUBP1 disease C0003886 GeneticVariation 0.01 disgenet
Arthrogryposes CACNA1C disease C0003886 Biomarker 0.01 disgenet
Arthrogryposes NAIP disease C0003886 GeneticVariation 0.01 disgenet
Arthrogryposes CHRNA4 disease C0003886 GeneticVariation 0.01 disgenet
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