Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Behavior, Stereotyped VAMP2 disease C0038271 Biomarker 0.3 disgenet
Behavior, Stereotyped EBF3 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped FBXO31 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped LMAN2L disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped PRRT2 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped GABRD disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped SLC9A6 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped DEAF1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped NAT8L disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped TARDBP disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped MECP2 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped LETM1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped TRAPPC9 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped FMN2 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped SLC45A1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped SNRPN disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped ARID2 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped KPTN disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped TREM2 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped CTBP1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped RAI1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped ALKBH8 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped FLCN disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped TBC1D23 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped TBCD disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped CNTNAP2 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped IQSEC2 disease C0038271 Biomarker 0.1 orphanet , disgenet
Behavior, Stereotyped CRBN disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped PRODH disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped PIGC disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped CHD1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped NLGN4X disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped NACC1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped CDKL5 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped TRIO disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped HNMT disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped ELP2 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped NLGN3 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped NEXMIF disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped OCRL disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped RSRC1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped AP4E1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped RERE disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped CHAMP1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped MED25 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped TUSC3 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped MGAT2 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped NDST1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped KDM5B disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped NDP disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped MED23 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped TBR1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped RAC1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped TKT disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped CC2D1A disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped SLC6A8 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped PGAP1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped GRIK2 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped ST3GAL5 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped NAGS disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped NSD2 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped MAPT disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped PRSS12 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped MBD5 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped ADNP disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped ZC3H14 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped WARS2 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped NPC2 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped CPLX1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped EXT2 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped KMT2A disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped EP300 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped RAB11B disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped EDC3 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped TNIK disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped AP4B1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped MBOAT7 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped EHMT1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped FGFRL1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped TMEM106B disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped FOXG1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped HDAC4 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped NAA10 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped SOX5 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped BCORL1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped TECR disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped AIMP1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped PRDM16 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped FOXP1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped B3GALNT2 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped POGZ disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped THOC2 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped WHCR disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped TRAPPC6B disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped SIK1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped GRN disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped CERT1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped SARS1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped FRRS1L disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped LINS1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped WASHC4 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped RAB39B disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped C12orf4 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped KCNAB2 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped TBX1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped SMC1A disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped KYNU disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped AP4M1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped DCPS disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped FLII disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped MAN1B1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped SCN8A disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped TUBB3 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped MEF2C disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped METTL23 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped VCP disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped CHD3 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped CRADD disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped C9orf72 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped CREBBP disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped NRXN1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped TTI2 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped ATRX disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped AP4S1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped CHMP2B disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped NTRK2 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped RTTN disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped EZR disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped PSEN1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped CLIP1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped SYT1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped SQSTM1 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped ST3GAL3 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped NSUN2 disease C0038271 Biomarker 0.1 disgenet
Behavior, Stereotyped SKI disease C0038271 Biomarker 0.1 disgenet
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