HP:0000175: Cleft palate

Genes 904

KMT2D SMARCB1 RPS7 PROK2 B3GLCT KCNA1 FEZF1 HSPG2 ACTB HS6ST1 INPPL1 TCOF1 KCNK9 CHD7 OFD1 WNT7A EFTUD2 PHGDH PGAP2 ARVCF SIX3 FANCM RPS15A WDR11 NELFA RREB1 NID1 LETM1 CTCF MAFB USP9X WDR35 EFTUD2 MSX2 ARHGAP29 PIEZO2 HYAL1 CDC45 BUB1B FLRT3 PROKR2 EBP FOXH1 TP63 CDC6 BRIP1 RPL26 IL1RN BRAF SEC24C COL11A1 HSPG2 DDX59 TBX1 B3GALT6 PGAP2 SATB2 FANCG GMPPB RYR1 PEX2 FOXH1 KMT2C KLHL41 MAPRE2 FLNB KATNIP NIPBL FLNB ITGA8 CEP290 COL11A1 GAS1 PROP1 SLC26A2 WASHC5 FOXC2 KRAS GJA1 GMNN DGCR8 BMPER IL1B HYLS1 SUFU SPECC1L HNRNPK FGFR1 FLNB KIF14 DAG1 HOXD13 FGFR2 SLC10A7 TRRAP PPP3CA CDON FKTN ADA2 INTS1 FGFR1 IGF2 SNRPB DISP1 MAP2K2 SPECC1L SMC3 FGFR2 COL11A2 FLNA AMMECR1 COL11A2 NEK1 MED25 SOX6 LIG4 RPL35 SOX3 FANCL CPLX1 GNRHR TDGF1 TAPT1 TMEM216 PSAT1 FGF9 GLI2 FGF8 POMT2 TBX15 KIAA0753 SLC26A2 COL11A2 ESCO2 BMP4 KMT2A FANCF COL11A1 ARNT2 RPS19 PNKP UBB FGF8 SNRPN DISP1 TP63 GNAI3 TGFBR2 IFT140 STAG2 SIX3 COL2A1 PEX7 ALX4 PGAP3 ZIC2 COL11A1 MAF KCNJ2 FLNA MSX1 ALG3 FGF8 TCOF1 TMEM216 SHH FANCI DLG1 CHRNG NODAL NOTCH2 PORCN CEP57 RPGRIP1L ZIC2 RAD21 TBX22 PIGV DOK7 FGF8 DLL1 TBX6 CPLANE1 KDM6A GPC3 B9D1 CASK TCTN3 DGCR6 INTU CYP26C1 CDON FGF20 PQBP1 CHD7 CCDC141 FANCA SIK1 RPS19 CDKN1C OTX2 GAS1 MAP3K7 PTCH1 CDH11 EPG5 GLI2 LBR PLCB4 ARID1B PPP2R5D TP63 RB1 BCOR TCTN2 SF3B4 CARS1 DSE DHODH CD96 CILK1 NSUN2 SPEG TUBB RUNX2 IGBP1 BRAF OTX2 DDX59 ESS2 MKS1 RBM8A MEIS2 EXOC6B RPS26 EDN1 POMT2 MID1 TP63 RPGRIP1L CHSY1 PIEZO2 PIGL TP63 SLC2A10 SPOP RET JMJD1C COL2A1 GLI2 BUB1 MYOD1 PALB2 ZEB2 NEK1 TBX1 COL2A1 STAMBP DGCR2 FKRP KAT6B COL11A1 LOXL3 KIAA0586 FOXA2 SATB2 CDH11 COLEC11 TP63 SMCHD1 FANCC HESX1 PIGL RPL5 IRF6 PTCH1 GLI2 CDKL5 RPS10 COL9A3 TBC1D24 TTC37 PIGO COL4A1 C2CD3 MEOX1 TMEM216 MCTP2 SMAD3 GNB1 FGFR1 SOX10 ATN1 BRCA2 ERCC5 NUP107 PTCH1 SMOC1 HNRNPK SEPTIN9 TUBB MUSK IQSEC2 RAPSN MUSK KIF7 LRRC32 BUB1B SMARCC2 DEAF1 LMNA TXNL4A GRHL3 STAC3 COL11A1 CDH1 CHRNA1 CHST3 FOXH1 FOXP2 FGD1 EDN1 TGIF1 ESCO2 TGFBR1 ARCN1 PIGV CC2D2A EFNB1 NBN POLR1B SLC26A2 OTX2 CC2D2A PLXND1 TGIF1 STAT3 DUSP6 IL17RD FANCB NECTIN1 PRRX1 RNU4ATAC SIX5 GLI2 SLX4 IRF6 SMAD4 PGM1 CDT1 HMGA2 CCDC141 RECQL4 ATR RPL31 SIX1 FGFR2 RPS26 WDR26 GAS1 TRIM8 CCDC22 RPL5 MKS1 WNT4 RPS27 SMS PTCH1 TFAP2A RPS24 LARS2 RPL35A GLI3 TMEM67 COL2A1 UFD1 SHH AHI1 UBE2T PLAG1 CHRNG ATRX SF3B4 SMS ACTG2 RUNX2 GLI3 DLL3 PTCH1 RECQL4 TDGF1 YAP1 MYOD1 RAI1 HNRNPK PIGY TGIF1 STXBP1 ZEB2 PIGO SMC1A BPNT2 EYA1 PROK2 ALX3 ERCC4 SMARCD1 SOX2 SIX3 TELO2 CENPF TWIST1 SMC3 TDGF1 FLNA GATA1 GLI2 NFASC RAPSN DLL1 RIPK4 CDON TSR2 POLR1A WNT5A SHH BMPER DPH1 SIX3 SOX9 CEP41 COL9A1 HDAC8 CHD7 POLR1C STAG2 EYA1 BUB3 HES7 FOXC2 RBM10 FGFR2 GDF6 TRIP13 ORC1 FGFR2 MYH3 BCR DVL3 SELENOI DLL1 COMT KAT6A DLX4 TRPV4 NODAL NECTIN1 LARGE1 CYTB KDM6A GLI2 WNT3 TGIF1 RIPPLY2 NODAL FOXE1 NODAL DHCR7 TBCE POMT1 RTL1 TACR3 ARID2 SATB2 ASXL1 SHH PQBP1 ARID1B FGFR1 ARX SETD5 TBX2 SPECC1L TP63 SHH PTDSS1 EIF2S3 LMBRD1 GJB2 FZD2 CTBP1 SNRPB CEP120 COL11A2 NEB MEGF10 IRF6 RAD21 SOX4 MYH3 PSAT1 SLC26A2 FGFR2 RAD51C SUFU DLL1 FGF8 GAS1 B3GLCT FKRP BMP4 CPLANE1 FGFR2 PLCB4 HIRA GP1BB ZMPSTE24 DLL1 SIX3 TMEM67 ARID1B GNRH1 RXYLT1 RPL11 TGFBR1 PRDM5 SEPTIN9 ORC4 SOX11 MSX2 COL11A1 USP9X GRHL3 RPL27 COL2A1 MYH3 CDON SON COL2A1 DVL3 RPL11 HESX1 KIF7 WNT4 COL2A1 ALX1 FAM20C TCTN3 SOX9 PTPN11 MEOX1 GJA1 MSX2 ZC4H2 POLR1D TDGF1 RPL15 IRF6 FANCD2 SHH GPC4 ARHGAP31 MAPRE2 CHST14 ZIC2 G6PC3 NFIX DLX5 DISP1 SPRY4 FGD1 MED25 FOXH1 FLNA SEMA3E ARID1A COL11A2 FRAS1 NBN FLNB POU1F1 LHX4 ECEL1 INPP5E CEP55 FGF17 SLC26A2 FGFR1 ORC6 FGFR1 FGFRL1 HOXA2 ZNF469 POMGNT2 MASP1 KMT2D XYLT1 SALL4 NEDD4L CSPP1 CTNND1 KRAS ZSWIM6 GATA3 ZEB2 ARID2 CHN1 CDC45 RPL18 COL2A1 EYA1 COLEC10 B3GAT3 RAI1 SH2B1 MECOM SON COL2A1 ACBD5 TBC1D24 DMXL2 CHRNG NUP88 BIN1 FLNA FKTN TBX22 PTCH2 SMO SMARCA4 NECTIN1 TMEM231 FANCL ASXL1 DHCR7 GDF3 NSD2 NUP107 HS6ST1 DPF2 AMER1 KIF7 TWIST1 CEP290 RIC1 FLNA FGFR2 PTCH1 ORC1 ZSWIM6 PIEZO2 SATB2 NSMF FGFR1 POLR3A SMARCD1 TWIST1 PIGW SMOC1 TTN TMEM231 SCARF2 FOXH1 OFD1 KLHL7 CDON TP63 RPL26 COG1 PHGDH BGN STAG2 EARS2 ANOS1 DVL3 KDM6A RBM10 PHF8 CTCF TGDS DISP1 FGF8 TACR3 KANSL1 TMEM107 MAPK1 NIPBL MESP2 SMAD4 RPS28 DLX4 WDR11 FGFR1 TGFBR2 TBR1 MYMK ZIC2 SPRY4 FLNB COL9A2 PIGN MED12 TGDS FKBP14 RPS17 KIF7 B3GALT6 NSMF CEP120 STAC3 SELENOI PIGL TBX1 KCNN3 PIEZO2 PDE6D TBX1 B9D2 PGAP3 FOXE1 DONSON TAC3 FANCE REV3L FLNB TMCO1 NSD2 POLR2A KISS1 PEX5 CDH1 POLA1 LMNA B3GALT6 SIX3 RIPK4 B9D2 BRCA1 B3GALNT2 STAG2 CRKL POLR1D SEC23A SIX1 FAM149B1 HS6ST1 ALX3 HESX1 SLC25A19 YAP1 TGIF1 NEUROD2 MSX1 MBTPS2 SEMA3E EDNRA CDON GNAI3 B4GALT7 TBX1 SLC18A3 WDPCP KISS1R GRHL3 FGFR1 PIGP DDX3X MEG3 HAAO MAP2K1 MKKS RPS23 ZIC2 FLNA DYNC2H1 RPGRIP1 COL2A1 TMCO1 DVL1 LARGE1 OFD1 FAM20C GPC3 KCNN3 EIF4A3 TGFB2 CHD7 FGF8 SIX1 PROKR2 SMCHD1 MAD2L2 TMEM237 DCC ANKRD11 TCTN3 SMC1A POMT2 GLI3 POLR1C FOXF1 TDGF1 CHST14 SLC35D1 SOX9 SMARCE1 UBB SEMA3A PTCH1 SLC35D1 RPGRIP1L TBX22 KCNH1 TBX4 FAM50A GLI2 GAS1 ALX1 B4GAT1 ZMPSTE24 GNB1 DHODH ANOS1 DYRK1A PAX3 TGIF1 BCOR SCN2A LMX1B KISS1R SMAD3 RIPK4 FTO NSMF GMNN AMER1 IRF6 SETD5 POMGNT1 CRPPA OFD1 XYLT1 SCN1B WDR35 POMK CHD7 SUMO1 MKS1 POMT1 RAD51 DUSP6 DHCR24 HYLS1 NPHP1 CREBBP CHRND SMPD4 XRCC2 GRHL3 RECQL4 GREB1L VAX1 SLC25A22 LETM1 GDF6 COL2A1 MYMK C2CD3 RFWD3 MBTPS2 NDNF WHCR GPC4 RECQL4 FGFR3 DLK1 PROKR2 PIGN DVL1 MAP3K7 MIR140 RPS29 GNAO1 NODAL HDAC8 PROKR2 KIFBP MID1 MEIS2 ATP6V1B2 FLII CDH1 BMP4 DHCR24 IRF6 WASHC5 TCTN2 LFNG TGFB3 SLC39A13 FGF17 COL11A1 PIGQ DISP1

Protein Mutations 4

R352W R404C T93M V326L

HP:0000316: Hypertelorism

Genes 1011

MAT2A FIBP RPS7 PDHX SIX2 PROK2 B3GLCT BPTF HSPG2 TWIST1 C12ORF57 ALG9 CHD7 OFD1 TGFBR2 RASA2 PHGDH PEX3 SLC25A24 ATP6V1A CTNND2 PSAT1 PGAP2 ARVCF ZIC1 CCND2 PPP2R1A FANCM SLC2A10 RPS15A ANTXR1 PACS1 NELFA RREB1 LETM1 CTCF FBXO11 PIK3CD PAX3 DSE ANTXR1 ERMARD SETBP1 CCNK KCNH1 RPS6KA3 RIT1 ZIC3 EBP NXN TARS1 NF1 KNL1 HBA1 BRIP1 ACTL6B RAC3 PIK3R1 BRAF SEC24C FGFR3 MEF2C FIG4 DDX59 EXT2 ZIC1 NSD1 COL3A1 KIF7 PIGA FANCG FOXC1 PEX2 SUZ12 FAR1 FLNB DICER1 KATNIP ATP6V0A2 RRAS2 FGFR1 COX7B ZIC2 SIN3A FLNB PITX2 ITGA8 SOST PTRH2 KMT2A COL11A1 SLC12A6 SHOC2 WASHC5 TRIO KRAS ACTB ACTA2 NEB KMT2A PDE4D ADAMTS3 SLC25A24 SPECC1L FGFR1 TPM2 FGFR2 TRRAP FGFR2 PALB2 NRAS RNU4ATAC GPC4 GK RELN ADA2 INTS1 CBL ATP6V1E1 VPS51 MAP2K2 FGFR2 ZMYND11 FLNA SPECC1L MED25 SOX6 LIG4 GLE1 THRA NF1 RYR1 DNMT3B RPL35 PPP2R5D FANCL CNOT3 CPLX1 EMC1 GNRHR TAPT1 TMEM216 PSAT1 ERF KIAA0753 HRAS NGLY1 MYH11 SPINT2 MAF SMG9 MAPK8IP3 ZBTB24 HBA2 KIAA0753 LRP5 ESCO2 CCBE1 FGFR2 AGA TRIM37 TAF1 SOST DHX37 FANCF PIK3CA INTS8 RPS19 FLI1 CHD8 SLC29A3 SNRPN TGFBR2 KRAS SLC45A1 DOCK6 GLI3 NBAS QRICH1 PGAP3 CCBE1 FOXC1 PTDSS1 WDFY3 CDC42 GJA1 FREM1 POLR3A SKIV2L MAF KCNJ2 FLNA ACY1 CAMTA1 BRAF TCOF1 CASK FANCI CHRNG SPART CNTN1 TFAP2B NOTCH2 SKI SALL4 SEC23A MRPS14 PIK3R2 GALNT2 EZH2 PIGV DOK7 RERE POLR1A FLNA CPLANE1 GPC3 WNT5A B9D1 TCTN3 TTC7A INTU FGF20 DDX6 DVL1 FANCA ABCD4 SPRED1 EED SOS1 RPS19 TONSL CIT PPP1R12A FBXW11 MAP3K7 MAN2B1 OGT FGFR1 TPM3 CDH11 EPG5 LBR PPP1CB WAC ARID1B APC ZBTB18 BRAF CBL WDR73 UMPS KIAA1109 DSE PEX1 RMRP PRKG1 NSUN2 TCF20 EXOSC9 TUBB RUNX2 BRAF PLP1 DDX59 ANKH MKS1 AUTS2 RPS26 MID1 ELN BRAF TWIST2 TBCE ODC1 CHSY1 FBN1 PIGL SLC2A10 SPOP RET CHRNA7 JMJD1C SHANK3 PALB2 ERF ZEB2 MAN1B1 TBX1 IL11RA ATRX STAMBP KLF13 EZH2 SUFU MPLKIP LZTR1 SOS2 CDH11 PSMD12 COLEC11 FGFR2 KLHL41 FANCC PEPD ITGA3 PIGL MYT1L RPL5 HMGA2 ZBTB24 EP300 RIT1 SPART TASP1 CDC42 RPS10 TBC1D24 HERC1 TTC37 PIGO LTBP4 MAP3K7 VAC14 TMEM216 MCTP2 BPTF SMAD3 IGLL1 SIN3A FGFR1 TBCE BRCA2 NSUN2 ZMIZ1 PTCH1 WDR4 RNF113A BRAF IGHM RAF1 MUSK TRIP4 IQSEC2 PYCR1 RAPSN MUSK ATRX BRCA1 BUB1B DEAF1 NKX3-2 LMNA TXNL4A PSMD12 BRPF1 DNMT3A COL11A1 SRD5A3 CDH1 CHRNA1 CHST3 ALX4 LOX BPTF FGD1 PPP2CA FGFR2 PTPN11 ESCO2 TGFBR1 PIGV IFT43 FGFR2 NKX2-5 EFNB1 FLNA CC2D2A BCL11B WAC FBN1 SETBP1 DUSP6 FANCB FIBP PEX6 ZMIZ1 FZD2 SLX4 LRP4 FREM1 PIGB DNMT3B TRAPPC9 RECQL4 ATP6V0A2 RPL31 A2ML1 LEMD3 FGFR2 ITCH CCDC22 RPL5 COLEC11 RPS27 DOCK3 SMS TFAP2A RPS24 RPL35A FGFR2 TMEM67 UFD1 PDE4D KBTBD13 RAF1 INPPL1 HNRNPH2 UBE2T GBA KAT6B CHRNG ATRX SMS ACTL6B FGFR3 RUSC2 MED13L RUNX2 EED TGFBR1 ASXL2 PAX3 UBE2A MYOD1 RAI1 FREM2 PIGY HELLS ZEB2 PIGO MAP2K1 ALX3 ERCC4 CTU2 TELO2 TWIST1 CENPF TWIST1 SHROOM4 NUP107 COG1 TBX1 TP53RK FLNA GATA1 NFASC RAPSN MASP1 TSR2 WNT5A BMPER DPH1 MYLK TMEM94 PIGG LAGE3 SOX9 TGFB3 COL1A1 CHD7 POLR1C TNFRSF11A ALG13 GPC4 AVP ATRX ZBTB18 NKX2-6 RBM10 NSD1 FGFR2 FGFR2 BMPR1A DPM1 TCF12 FGFR2 MYH3 GATAD2B RSRC1 ALDH18A1 SNAP29 DVL3 FREM1 AHDC1 ALG9 NOTCH3 CENPJ SH3PXD2B COMT BLNK ANKRD11 NTNG1 DLX4 FOXP1 CDK19 WDPCP ROR2 AUTS2 IRX5 IL1RAPL1 PIGN NXN SUFU FGFR2 GNE FAT4 GNE USB1 ATP6V0A2 DHCR7 EPG5 INSR NEB PAFAH1B1 CASK TACR3 ASXL1 MTOR RLIM OSGEP TBX2 SPECC1L SPECC1L PTDSS1 MED13 AKT1 FZD2 ATP6V1E1 CTBP1 PEPD COL11A2 NEB CACNA1G CHST3 CPLX1 PSAT1 ANKH SLC26A2 FGFR2 RAD51C SUFU B3GLCT PRPS1 CPLANE1 AP4S1 FANCD2 FGFR2 PLCB3 ALDH18A1 MYT1L HIRA ACTG1 GP1BB SVBP FRAS1 PMM2 NRAS ZMPSTE24 CDH1 HSD17B4 PTEN FUCA1 EXTL3 GNRH1 THOC2 PAX3 TGFBR1 ACTB SIK3 COL11A1 SEMA5A SHOC2 RPL27 KLHL41 DVL3 TCF3 CTNND1 VSX1 RPL11 COLEC10 CAMK2A ALX1 SUFU TBL1XR1 FAM20C TCTN3 SOX9 AKT3 HPDL PTPN11 GJA1 FAT4 DDR2 TTC37 TWIST2 POLR1D MFAP5 KNSTRN PACS2 RAF1 ACTA1 RPL15 KMT2E NF1 MED13L GRIP1 FANCD2 FAT4 CASK GPC4 MAPRE2 CHST14 TANC2 FLNA COL27A1 FGF3 TPRKB FGFR2 KRAS MAP2K2 ERF KCNH1 FGD1 CDK13 MED25 FLNA SLC35C1 SEMA3E MED13 FRAS1 ADK RSPRY1 FLNB CEP55 RRAS LMBR1 SALL4 ADGRG6 PTPN11 MOCS1 SKIV2L SLC26A2 RPS6KA3 SMAD4 PHACTR1 FGFR1 FGFRL1 DPH1 MASP1 SOS2 ADAMTS3 BRCC3 WDR73 WDR37 CDK10 GLI3 CSPP1 CTNND1 TMEM216 DCHS1 ZSWIM6 MEGF8 DCHS1 ZEB2 PIK3R2 RPL18 COL2A1 DNAJC21 COLEC10 B3GAT3 RAI1 SH2B1 YWHAE LBR MRAS TBC1D24 CHRNG KIF15 NUP88 FIG4 PRMT7 FLNA ELN KIF7 LRRC8A PTCH2 TGFB2 TMEM231 FANCL ASXL1 DHCR7 MRAS ROR2 KIAA0586 C12ORF57 NSD2 AMER1 XYLT2 KIF7 TWIST1 CEP290 FLNA TBCD FGFR3 DDX6 RPL35A FGFR2 MMP2 GPAA1 TMEM138 CHD4 CHST3 ZSWIM6 PITX2 TBL1XR1 HELLS ODC1 POLR3A SMARCD1 TWIST1 AFF4 BCORL1 PIGW CDCA7 ALG13 TMEM231 OFD1 KLHL7 PTPN11 RPS7 PTCH2 LRRC8A TXNL4A RPL26 COG1 PHGDH ACTG1 FLNA TENM3 BGN ANOS1 TBCD DVL3 PYCR2 GATAD2B STRADA PSMD12 TBX15 ASXL3 SLC1A4 TRIP12 RBM10 CTCF FGF8 PPP1CB KCNMA1 FGFR1 TMEM107 ACTB SMAD4 RPS28 HRAS WDR11 NOTCH3 FOXE3 TGFBR2 RAI1 TBR1 KIF7 LRP2 FLCN SPRY4 NONO FGFR3 PIGN COL1A2 MED12 TGDS CCDC47 ADAT3 MAN1B1 EIF2AK3 NALCN RPS17 KIF7 PTRH2 FAM111A CEP120 GJA1 PIGL TBX1 KCNN3 AIFM1 PIEZO2 ALX4 CREBBP PDE6D ATP6V1A TBX1 ACY1 ATRX EFEMP2 PGAP3 BMP2 COL2A1 HERC1 PRKAR1A TAC3 FANCE POC1A EHMT1 FLNB CSNK2A1 MTOR FOXP1 TMCO1 KDM1A MN1 NSD2 FH POLR2A NF1 KISS1 PEX5 TWIST2 TPM3 LMNA PPP2R1A RIPK4 B9D2 BRCA1 LRP4 SEC23A CCDC22 STAT3 FAM149B1 SH3PXD2B TRAPPC9 HS6ST1 ALX3 RPS6KA3 SEMA3E B4GALT7 TBX1 SLC18A3 WDPCP ALG8 CD79A PIK3R1 HNRNPU DDX3X SMC1A RAF1 ASXL3 MAP2K1 CD79B BCL11B ACTL6A MYPN FLNA SMAD3 ERCC2 RPGRIP1 TMCO1 DVL1 EXT2 SMO NF1 OFD1 NUP133 TFAP2B PHIP GPC3 TGFB2 ACTA1 LRP4 FGF10 SMCHD1 MAD2L2 POR POGZ CDCA7 ANKRD11 TCTN3 GLI3 RB1 CHST14 GLB1 HACE1 PARS2 LRPPRC RPGRIP1L KCNH1 ACOX1 SOS1 ALX1 NRAS SEC24D ZMPSTE24 FGFR3 MOCS2 EHMT1 TCIRG1 SET NSMCE3 PEX6 WARS2 EBF3 TPRKB KISS1R PTEN SMAD3 EFNB1 FBLN5 RIPK4 GTF2H5 FAT4 LRP2 NSMF ALG1 OSGEP CSPP1 MYH3 OFD1 MED12L WDR35 CHD7 ALX4 CDH2 MKS1 SKI RAD51 CHRND BNC2 CHD3 XRCC2 FGFR1 SNAP29 RECQL4 GREB1L PACS1 TRMT1 PTCH1 ANK1 GLI3 GATA6 JAG1 RSPRY1 LETM1 TBX4 TP53RK RFWD3 APC NFIX PPP3CA WHCR GPC4 ITGA8 FGFR3 PRKAR1A ALDH6A1 AHDC1 LZTR1 PIGN PTH1R DVL1 TMEM237 MAP3K7 SETBP1 MIR140 RPS29 BCORL1 GTF2E2 PYCR1 TRAPPC4 MED12 FBN1 HDAC8 PROKR2 KIFBP MID1 ATP6V1B2 FLII KREMEN1 ABCC9 ERCC3 WASHC5 ACOX1 TCTN2 TGFB3 TMEM67 SLC39A13 FGF17 RLIM DPF2 SUZ12 MARS2 FGFR3 UBE3B FGFR2

Protein Mutations 4

R352W R404C T93M V326L

HP:0001252: Muscular hypotonia

Genes 2625

MBD5 SH2B1 SMARCB1 SLC25A26 PDHX TRNK MAGEL2 NDUFS4 GRID2 TREX1 TOR1A TRAPPC11 DOLK KAT6B CHAMP1 OFD1 PHF21A CNKSR2 PEX3 ATP6V1A CTNND2 PSAT1 ST3GAL3 ARVCF SIX3 PPP2R1A SLC2A10 ND1 WDR11 EDN3 SLC5A7 RREB1 RRM2B NALCN OCA2 ALG14 TUBB4A LETM1 FBXO11 P4HB DSE ERMARD AP4B1 PEX11B PEX6 PLP1 SPATA5 FKTN KCNH1 RPS6KA3 AARS1 LRAT HRAS LARGE1 POLG BUB1B ERCC5 FLRT3 NDUFA6 FOXH1 PEX11B TPK1 TARS1 NEB PEX1 CEP290 KCNQ2 TONSL SPATA5 BRSK2 ABCC8 VPS13B BRAF ADNP PNPO RAB18 SEC24C CDK8 GABBR2 EXT2 TBX1 PIK3CA HCN1 NUP62 TBC1D20 GCH1 PGAP2 MBOAT7 PEX13 PIGA ATP5F1A PEX10 NDUFV2 GMPPA WAC VPS53 ITPR1 GRIN2B MCCC2 GPT2 KATNIP CUX1 ATP6V0A2 TPM2 COL6A1 PRMT7 PC SIN3A RTL1 ABCB7 SLC12A6 ATCAY PIGK WASHC5 TMEM63A KRAS RYR1 CNOT2 STAG1 MYOT KMT2A CLCNKA PIGT ERF SLC25A24 VPS13B PTCH1 HNRNPK TPM2 SPATA7 TRRAP PLAGL1 AHI1 KMT2E DALRD3 EEF1A2 IRF2BPL VAMP2 RRM2B MTO1 INTS1 MYF6 SCN1B CBL PHKG2 NDUFAF6 ATP6V1E1 COL5A1 PEX19 MAP2K2 DLK1 PEX26 PEX12 AMMECR1 STX11 HNF4A SDHA CNOT1 MED25 ACTL6B SNORD115-1 MADD PPP2R5D CPLX1 MAN1B1 COL6A2 KCNB1 EMC1 SHH MKRN3-AS1 GRIN2B PSAP SLC18A2 PEX16 ACADVL FAN1 SLC25A10 COX10 TKT VPS33A HMGCL NTRK2 RAB3GAP2 TBC1D24 APC2 NGLY1 GLI2 ATXN1 ANK3 SMG9 SDHA KIAA0753 PNKP PREPL SCO2 SOX2 ATP8 MKS1 IYD PUF60 CLCN4 ELP1 TAF1 BTD COL12A1 PWRN1 POU3F3 TDGF1 GDNF PIK3CA OGDH PPP3CA PAX8 PNKP CPT1A CHRNA7 PEX1 KAT6A LAMA2 ZIC2 CACNA1E MBTPS2 FGFR3 POLG DISP1 EIF2S3 GNAI3 KRAS DOCK6 SIX3 AP1S2 PEX12 MCM3AP C19ORF12 TRNN SLC19A3 DLAT CFL2 MORC2 DCX SCO1 CEP120 MSH6 MAG PEX13 GK NDUFB11 TTN RET ZIC2 TIMM22 WDFY3 CDC42 MKS1 LAMA2 GABRA2 ACY1 FKBP14 KCNMA1 MED23 CAMTA1 FGF8 DMXL2 SC5D EIF2B3 SHH PAK1 POMT2 SLC22A5 KIF22 RYR1 SYNGAP1 SIK1 HACD1 CREBBP HADH OCA2 HSPD1 NODAL ATXN1 SKI CEP57 PEX10 SLC26A4 GALNT2 CEP41 SLC9A6 RAD21 EZH2 MED25 SCN4A SYT1 TUFM ADAT3 ECHS1 TBR1 DLL1 RERE TNNT1 CASK SLC6A8 DGCR6 FGF12 ALDH7A1 TIMMDC1 DUOX2 PPM1B DEAF1 STRA6 IFT81 DLD ABCD4 COG4 SPRED1 DNM2 SLC6A9 SIK1 ETHE1 SSR4 SOS1 TBC1D23 TSHR SLC13A5 CYP2R1 FOXG1 HYLS1 ARX UBE3A NDUFS4 UGP2 WAC PPP2R5D GLI2 TACO1 ATXN10 TSHB AASS SYNE2 ATP8A2 WDR73 PHYH PEX1 DLL1 TCF20 EXOSC9 TECR GALC PEX14 TUBB ALDH3A2 PSAP FGFR3 GNB5 DDOST TRNE TSFM PRODH TRNL1 CSGALNACT1 POMT2 PMM2 BRAF RPGRIP1L FBN1 KAT6B CNTNAP2 NDN NTNG1 AIPL1 SLC2A10 SPOP CHRNA7 MBD5 MMUT C12ORF4 SHANK3 MYOD1 NDUFS6 HIBCH PNP ACTA1 PTS ERF ZEB2 MAN1B1 NEK1 WWOX ATRX SYNJ1 DGCR2 STT3A DPAGT1 INPP5K GBA SNIP1 KIAA0586 SYNGAP1 PPP1R15B PHKB CLIP1 PSMD12 AGA GNPAT KIF22 CEP104 PYGL LMNA LMNA PDHX UQCC3 ZNF592 NDUFA10 ITGA3 CAMKMT PIGL USP9X SDHAF1 MCCC1 TPM3 TWNK DCC COQ2 ALG9 ATAD3A GLI2 NEU1 MGAT2 KANK1 EIF2B4 COL6A3 TASP1 UBA1 DPAGT1 TIMM50 PYROXD1 PMS1 TBC1D24 HERC1 FKTN LTBP4 GAMT C2CD3 FARS2 FAM126A TK2 MAGEL2 NPHP1 DPAGT1 FOXRED1 PLA2G6 TPM3 NDST1 SYNE1 COL12A1 PEX16 PEX10 SOX10 TRIP4 IQSEC2 RAPSN AP4M1 DDX11 LNPK LRRC32 HYMAI TMEM216 BUB1B MED12 PEX13 NDUFA1 CLCN4 RPS6KA3 STAC3 BRPF1 DNMT3A NEU1 MFSD2A ATIC COLQ SLC6A8 SRD5A3 CHST3 FOXH1 NDUFA2 GFPT1 MAP3K20 GRIN1 PTPN11 PLCB1 EDN1 COG8 AGK NDUFV2 FBP1 GNPTAB GFPT1 HADHB BCL11B NDST1 GRID2 PLXND1 WAC STRA6 NDUFAF3 NDUFAF2 IL17RD SPTBN2 PCYT1A UNC80 PEX2 PEX10 ETFB CNTNAP1 PUS7 ADARB1 PIGB IBA57 CCDC141 PMP22 SUOX RPGRIP1L PHKG2 IQSEC1 DOCK8 YARS2 RPL10 WDR26 NAXE UBA1 MYO5A ABCC8 TPM2 BSND GAS1 NDUFAF2 CCDC22 DMPK PIGH PSAP SLC33A1 USP18 STAT3 SLC1A4 KBTBD13 AHI1 COLGALT1 STAG2 POMK KDM3B CCDC88A PI4KA ARMC9 RDH12 TMEM126B EED MAP2K2 ACADM TRAK1 RYR1 FUT8 PEX12 BDNF ASXL2 KIF11 MSL3 HADHA TSEN2 B9D1 HNRNPK TRAPPC11 HIBCH PIGY SLC34A3 TGIF1 CHRNE CACNA1A SERPINH1 SELENON PROK2 SETD2 VPS13D SMARCD1 ATAD3A TELO2 SLC52A3 IGF2 NUP107 HIVEP2 TP53RK TDGF1 ADNP NFASC PEX5 SCN1B PGAP1 BMPER SIX3 LAGE3 OXR1 TMEM67 BMP2 CEP41 VLDLR COL1A1 ZNF462 TCF4 ATRX COX6B1 RPE65 AP1S2 SLC39A14 RBM10 EGR2 CC2D2A BMPR1A DPM1 NAT8L FOXG1 FXR1 GATAD2B MED12L TPO ALDH18A1 RPGRIP1 PEX11B LIAS ALG9 UQCRQ GAMT PRPS1 KRAS CYP27B1 LTC4S SPTBN4 NTNG1 OSTM1 SLC17A5 FOXP1 GFER SMPD1 COL5A2 ATP6V1A ETFA NODAL PHF6 IER3IP1 CHD1 KDM6A CLPB NONO NALCN PIGU CLCN7 UBR1 TCF4 PEX6 SOD1 CSPP1 NODAL COX20 GNE AIFM1 CUL4B DHCR7 RAPSN DHX30 WARS2 NECAP1 NEB POMT1 PHF6 ARID2 PUS1 PUM1 KCNMA1 ARX MBOAT7 RLIM SETD5 ITPA CHRNE EIF2S3 RAB3GAP2 PEX3 GCSH ATP6V1E1 GATA1 CTBP1 HADHA KDM1A RYR1 SNX14 MEGF10 NODAL HUWE1 SOX4 RAC1 SYNJ1 NFIA ERCC6 ACTA1 UBE3A IGF2 SYNE1 BCOR EPB41L1 VARS1 POMT2 TMEM67 PSAP FGF8 PEX13 GAS1 GDI1 BMP4 CPLANE1 AP4S1 ELN CHRND CAMTA1 MYT1L FKRP RTL1 CC2D1A GP1BB ADAMTS2 ATP1A3 PMM2 PAFAH1B1 TPM2 EMD CEP41 DLL1 SCO2 LARGE1 MYL1 KIDINS220 ARID1B PDHB RXYLT1 CLTC ARL3 NDUFAF5 PRDM5 TLK2 PMS2 DUOXA2 SEMA5A ALG6 P4HTM AP4M1 NDUFS8 BIN1 CDON ADAR CHD1 GPX4 SUMF1 SLC3A1 SOX5 BRAT1 HESX1 CC2D2A SDHAF1 COL1A1 TARS2 CAMK2A SUFU CREBBP TBL1XR1 NPAP1 ADCY5 SOX9 SLC7A7 BCS1L SCN3A ZC4H2 EDNRB PLA2G6 CCDC78 INPPL1 PRKCG KRAS SLC25A12 KNSTRN PHOX2B CDK19 NDUFB8 KMT2E INPP5E CERT1 HPD USP7 IFIH1 GPC4 ARHGAP31 MAPRE2 RMND1 PUS3 PIEZO2 NKX2-1 MEG3 ZIC2 GBA EEF1A2 MITF PEX26 NDUFB10 TDP2 ZNHIT3 PEX26 AIFM1 COL13A1 ZMYND11 DISP1 TUBB2A CHRNE SLC35A3 SPRY4 KCNH1 DNA2 PEX19 CDK13 MED25 NCAPG2 CHRNB1 PNPT1 FOXH1 AP4E1 KCNC3 YWHAG SEMA3E IKBKG PNP DHTKD1 ARID1A NAGA SLC6A3 MED13 RNF216 FRA16E RSPRY1 INPP5E GMPPA RRAS AP4S1 KATNIP HCN1 NADK2 PSAP TREX1 GRIA4 ATXN2 ND2 SMARCC2 ND5 IFIH1 KIF1A TMEM260 RPS6KA3 NRXN1 PHACTR1 NDUFS7 FGFRL1 FHL1 GCDH UGT1A1 ARHGEF2 AP3D1 XYLT1 LMNA NEDD4L CDK10 PEX3 DYNC1H1 COL12A1 ALDH7A1 LMOD3 CAMK2A ACO2 KIF1A DIAPH1 KIAA0586 RAI1 MPDU1 SH2B1 YWHAE KPTN MECP2 MECP2 SNRPN KDM6B SON HNMT NKAP TBC1D24 GRIN2B PEX1 SLC25A15 DMXL2 LGI4 GRIN2D MFF ASPA TRAPPC11 COA6 PRMT7 KCNQ3 ERCC2 PRF1 FKTN KIF14 SMARCA4 SUMF1 GM2A ADCY5 MSH2 DHCR7 TRMT10C MMACHC GUSB PIGG KIAA0586 HADHB CAMK2B SLC35A1 AMER1 PCBD1 XYLT2 KIF7 KCNJ13 TBCD NDUFA12 STIM1 KIF5A CEP57 PPT1 PLEKHG2 THOC2 NUS1 SOX5 BCKDHB KANSL1 CEP120 PURA HMGCL SATB2 PEX16 GLRX5 TBL1XR1 TRAPPC12 ATP7A DNM1 SMARCD1 TUSC3 ZFP57 TTN CARS2 ALG13 ERCC1 OFD1 TET3 CLTC CDON GMPPB COG1 RMRP OTUD6B EARS2 WDR26 CRX KCNB1 KDM6A RYR1 DBT ECHS1 SLC45A1 DEAF1 STRADA DPM2 PSMD12 NDUFB9 STXBP1 SLC35C1 H1-4 COG5 SLC25A3 MAGEL2 ASXL3 PWAR1 SLC1A4 TRIP12 NUP133 B4GALT1 TCF4 LONP1 CTCF SCN8A ASNS KCNMA1 FBN1 ACTA1 PEX16 NIPBL MTM1 TPM2 LIPT1 LAMB1 NOTCH3 TRNL1 FGFR1 HECW2 FKRP SETD2 TBR1 TAF6 B3GALNT2 ARSA FLVCR1 PIGN COL1A2 NDUFA10 MED12 FKBP14 CCDC47 ND2 UFM1 ADAT3 PSAP PPA2 APC2 TRAF7 KIF7 PRNP B3GALT6 PDE10A NSMF ARID1A SYT1 TBX1 NSD1 KCNN3 PIEZO2 CREBBP TMEM237 NDUFS7 PDE6D ATP6V1A TMEM231 TBX1 ERCC6 MTFMT SLC19A3 ATRX EFEMP2 EPCAM PEX14 PGAP3 TULP1 GABRB3 PIK3CA NDUFS8 FKTN ATXN2 REV3L GCK SDHD EHMT1 DNAJC12 CTNS STRADA PNPLA2 WASF1 NDUFAF5 NDUFB11 FOXP1 FUCA1 TMCO1 KDM1A SDHB NDUFS1 RYR1 RNASEH2C NSD2 TRNW LHX3 CYP2R1 FH ARFGEF2 PEX5 PEX19 LAMA1 PDHA1 B3GALT6 PTCHD1 CRBN ATP6V1A TRPS1 NADK2 ARV1 POMGNT1 CCDC22 FAM149B1 TRAPPC9 HESX1 SLC25A19 SLC18A2 NEUROD2 TMEM107 KPTN NDUFS3 KISS1R SSR4 ALG8 PIGP HNRNPU DDX3X TRNS1 ASXL3 MAP2K1 CIC FKRP TRAPPC6B DNMT3A RNF13 ITGA7 EIF2B2 CHRNB1 SC5D KCNJ11 SLC9A7 ALDH18A1 EGR2 RTL1 CCDC174 FBXW11 POLG RAI1 CHAMP1 PEX12 PHIP KCNN3 HADH TUBA8 FGF8 GRIK2 SNRPN CASR GBE1 NDP STT3B TCF4 AMMECR1 TANC2 SNAI2 CYFIP2 VARS2 TIMMDC1 POGZ TCTN3 KDM5C CDON SDHD SLC19A3 HIKESHI MANBA TDGF1 SMARCE1 SIX6 SEMA3A HACE1 PARS2 LRPPRC LHX4 FOXH1 ACOX1 MVK CDKN1C PDHB PPP3CA NRAS B4GAT1 PEX26 GNB1 LAGE3 PNPLA2 EHMT1 PURA POU1F1 TUBA8 HEXA NDUFS1 MYH7 SAMHD1 NSMCE3 TBC1D24 PTEN TGIF1 DPAGT1 PCLO GTF2I SCN2A TPRKB MUSK EFNB1 CYFIP2 KCNA2 LMAN2L SRD5A3 IFIH1 RYR1 KCNJ11 CLPB TRIP4 RNASEH2C OSGEP SETD5 POMGNT1 AHI1 ZSWIM6 CSPP1 CRPPA HK1 HADHA UQCC2 EIF2B1 NFIX RNU4ATAC MED12L COL6A3 DYRK1A ELAC2 EFL1 BICD2 MEG3 POMK PEX2 SCN8A CDH2 KIRREL3 TSHB SKI UPF3B DUSP6 ANTXR2 DHDDS OTUD6B TRNT1 TGFB1 NDUFA9 SYNE1 MMUT NPHP1 TECPR2 CHD3 PDE10A COL6A3 ERCC6 ZDHHC9 FARSB SLC1A2 PACS1 FCSK PMPCA SZT2 RALGAPA1 ST3GAL3 SLC3A1 PHOX2B SLC5A5 SLC25A22 LETM1 TKT STX1B COX4I1 SCN4A PGAP1 SLC25A3 TBX4 NEB MYMK NEUROD2 HERC2 GPC4 ERCC8 PREPL ACADM FAR1 DLK1 ALDH6A1 B3GALNT2 PROKR2 MLXIPL FMN2 VIPAS39 LZTR1 ALG12 CHMP1A TMEM237 IDH2 RETREG1 MEG3 NKX2-1 DLK1 GUCY2D GM2A TPI1 AMPD1 SFXN4 GNAO1 LMOD3 BCORL1 NTNG2 MPZ GTF2E2 AR CHRNA1 CSNK2B PEX2 KCNT1 BAZ1B CRPPA RNU12 TRAPPC4 VPS11 MED12 TXN2 CRADD KIFBP GRIA3 GRIN1 POMT1 MIPEP NDUFB3 PEX1 GABRG2 ERCC3 DYNC1I2 ACOX1 TGFB3 KCNAB2 COL6A1 DAG1 SPR CTBP1 DISP1 NAA10 UBE3B EZR GABRB1 CDKL5 ACSF3 KMT2D UBR1 EEF1A2 SLC16A2 PET100 KCNA1 CLTC PEX3 FEZF1 BPTF IARS1 ERCC6 MAGEL2 NDUFAF4 C12ORF57 IQSEC2 AMT TECPR2 GTF2IRD1 KCNK9 KRAS IARS2 PIGY D2HGDH FGFR3 RASA2 NHLRC2 TSHR NGLY1 PGAP2 ZIC1 STAG1 RPL10 PACS1 NELFA NAA10 FKTN GNB5 FDXR KCNJ11 STXBP1 CTCF REPS1 PIK3CD LRP5 ARSA USP9X GABRG2 AIMP1 TMEM43 ATP10A RIT1 ADAM22 PIEZO2 NDN CPS1 SLC30A9 PURA EBP RTL1 SIM1 GNPTAB SCN1A NACC1 SDHA AP1S1 LAMB2 HBA1 POMK TCTN2 ACTL6B ATP6V0A2 MYO5A MORC2 STT3B FDX2 PMPCA POLG2 MEF2C FIG4 NKX2-5 TH MTHFR HLCS CD96 SATB2 ERCC8 CFL2 DLD RYR1 PEX2 KIT SUZ12 FOXH1 GABRA5 SURF1 MECP2 KMT2C COL12A1 SERAC1 RRAS2 ALAD TRMT10A LMBRD1 ARX SLC1A2 PTRH2 KMT2A CCDC115 GAS1 DLK1 SHOC2 SLC13A5 ACTB DGCR8 B4GAT1 FBP1 NEB TUBB3 PDE4D SOX10 COL6A2 SPECC1L DNM1 COL5A1 ACP2 DAG1 KDM5B DOCK3 COG8 RNU4ATAC CDON FKTN DPM1 FGFR1 ASPA VPS51 DISP1 LSS TMEM70 NEPRO NDUFAF6 GABRA2 CYP27B1 GALC ERCC1 MAP3K20 SIL1 FKTN VMA21 NF1 RYR1 CNOT3 EEF1A2 CDH15 LIFR TDGF1 KDM5B CACNA2D2 TMEM216 CACNG2 NFIX RFT1 COX15 PCDH12 GORAB CWF19L1 SLC35A2 FGF8 CDKL5 POMT2 PAX8 STXBP1 MAPK8IP3 PPM1D MMADHC TRIM2 DPYD HBA2 ARSA AP4B1 TRIM37 GTPBP2 KMT2A MTRR STXBP1 DNM2 IPW POMGNT2 ASCL1 ATXN7 GATA6 SLC52A2 ACADVL HTRA2 TPM2 GTPBP3 FGF8 ELP1 SNRPN SLC45A1 STAG2 UQCRFS1 LMX1B COL6A3 KCNA2 MAG ADSL MPZ SIX3 HNF1A LAMA1 LONP1 ZC3H14 ZBTB20 DCPS KIF1A RYR1 PEX26 DCPS NBAS HTT SLC25A15 QRICH1 KCNJ10 UNC80 PGAP3 ACADSB COQ9 GJC2 WDR81 KCNQ2 SUCLA2 RNASEH2B PTDSS1 GABRG2 NDUFAF8 ZBTB11 AHCY ATPAF2 HERC2 POLR3A MAF TRPM3 CTNNA2 ALG3 NPC1 NDUFS2 ALG6 NDUFS1 CANT1 UBA5 MMAA CNTN1 AP2M1 PEX6 SELENON FARS2 ATP7A HTT ZIC2 NPC2 PIGV PREPL B4GALT1 LINS1 CPLANE1 PEX13 KDM6A GPC3 TRHR NDUFS2 DHDDS FRRS1L PEX14 DYNC1H1 FKRP DDX6 ATCAY MAGEL2 SYNGAP1 COG5 ETHE1 GRM1 CHD7 CCDC141 NSDHL IARS1 OTX2 ZNHIT3 DHFR FBXW11 MAN2B1 PTCH1 TPM3 EPG5 FGF8 GLI2 PPP1CB SLC6A3 PLCB4 ARID1B ZBTB18 BRAF CBL CNTNAP1 GLS MMUT IQSEC2 POLG2 ALG11 SMARCA4 KIAA1109 SET CLP1 TRPS1 PMPCB ELP2 MKRN3 NFIX CD96 MYH7 PNPLA8 SPEG ATAD3A MPI LIFR BRAF EIF2B5 FMR1 ALG14 PLP1 RTL1 ESS2 IQCB1 CAMK2B MYO5A ATP2B3 LYRM7 NDUFB9 DLK1 TWNK PLPBP ACTA1 SCN9A NECAP1 ACAT2 ODC1 ASH1L HPRT1 UPB1 PIGL CACNA1A MDH1 PEX10 WDR73 DHPS CTNNB1 RAI1 JMJD1C RSRC1 BUB1 CHP1 POMT1 GMPPB NRXN1 KCNT2 COQ7 OCLN ETFDH UFC1 ALG3 TMEM237 TNIK TBX1 PIGT STAMBP KLF13 PEX12 FKRP KAT6B BCS1L MPLKIP STXBP1 KCNK4 GLDC TIMM50 TPI1 MADD GCDH KLHL41 LIMK1 CD59 MYT1L MYO18B HMGA2 GTPBP3 DARS1 DARS2 EP300 SPART GNAO1 SOX10 NDUFA6 MCCC1 FARSA EP300 CDC42 CDKL5 TANGO2 GAA RPGRIP1L SNX14 NDUFS2 PIGO COL4A1 VAC14 DMD ND3 RHOBTB2 BPTF SIN3A GNB1 SLC6A19 SMARCB1 SOX10 KCNMA1 BRAT1 NSUN2 ZMIZ1 WDR4 RNF113A HNRNPK PRSS12 COL6A1 TGIF1 SLC39A8 GARS1 PNPO TAF1 ATRX DOCK7 SMARCC2 DEAF1 NSDHL SCN1A SLC39A14 TUBB3 ADGRG1 PSMD12 SCN8A MLH1 FOXE1 DISP1 POGZ IMPDH1 PIK3R2 BPTF ATP2B3 LAS1L PPP2CA RARS2 LONP1 GRIN2D PIGV SUCLG1 ACAD9 IDUA EFNB1 MCOLN1 POLG ARSA SIM1 NEU1 GABRA1 MACF1 TGIF1 ACTA1 ALG2 UBE3A B4GALT7 CPLANE1 PEX6 ZMIZ1 WDR45B HDAC4 PIGQ MPDU1 ATP1A3 GOT2 ATP6V0A2 A2ML1 MYO1H LEMD3 RPL10 CNTNAP2 GABRD ITCH ACTA1 SEMA4A TRMT5 SCN2A EHMT1 TRIM8 RAB11B FIG4 MKS1 DOCK3 SMS SURF1 TRPV4 VPS33B NDUFA1 UFD1 GDF6 ARL13B ASAH1 ACACA INPPL1 DHX16 HNRNPH2 GLS MECP2 TSHR COG7 SHANK3 ATRX SMS ACTL6B MYPN MMAB RUSC2 MED13L LIPT1 KANSL1 PTCH1 EIF2AK3 NR2F1 POMT1 SLC18A3 ARV1 RAB18 SLC1A3 DNAJC19 TDGF1 TRAPPC12 PEX5 RAI1 NDUFS2 BCKDHA PHKA2 STXBP1 CPT1A ZEB2 PIGO SMC1A PIBF1 PCCB NDUFAF4 PAX6 SPTAN1 KCNQ2 INPP5E NALCN OCRL GPHN CTU2 METTL23 PEX16 HSD17B10 SMC3 YME1L1 COG1 PDX1 PEX19 IQSEC1 DIS3L2 RAB11A DLL1 CAMK2G ADCY6 HIVEP2 SHH TPM3 CPT2 MSTO1 TMEM94 CEP290 PIGG TBCK ADAR SARS2 MTRR MYL2 HDAC8 MLH3 ITGB6 TSEN15 STAG2 GFM1 ALG13 BUB3 ALDH5A1 STT3A KIF1A NSD1 BOLA3 C12ORF4 GABRD TRIP13 MEG3 RRAS2 KMT2C DDX3X ADGRV1 NARS2 AMMECR1 PIGS POLE SNAP29 RNF125 SCN3A AHDC1 BIN1 PLP1 ABCC8 ACAD8 NOTCH3 DLL1 EXTL3 KCNE5 DHDDS COMT EXOSC3 SLC25A42 KAT6A AAAS ARX MAMLD1 AGTPBP1 PDSS2 L2HGDH ISCA2 LARGE1 SELENON AUTS2 KCNC3 TMEM67 PYCR1 SEC24D OCA2 CYP24A1 ATP6V1B2 MTM1 TGIF1 ASCC1 PIGN INPP5K ITPR1 FAT4 ACADS COL1A1 ATP6V0A2 NSUN2 PNPLA6 ERCC6L2 EPG5 INSR PRPS1 PAFAH1B1 BRWD3 CASK RTL1 FGFR3 SATB2 SHH TRPS1 ARID1B ARL3 COL6A2 GABRG2 MTOR HACE1 OSGEP POMGNT1 FKRP SPECC1L MRPS34 PLOD1 PTDSS1 MED13 RORA YY1 LMBRD1 AARS1 PDSS2 ALG2 NDUFAF2 FKTN GAA CTNNB1 CEP120 NEB CACNA1G MRPS2 PNPT1 AIMP1 CPLX1 SLC26A2 CASR NKX2-5 RAB3GAP1 NDN AP3B2 NKX2-1 LARGE1 PLOD1 MPV17 GALE PRDX1 COL6A1 KCNQ5 LMOD3 TGFBR2 PRPS1 FKRP MTR CLIP2 LINS1 GPAA1 SLC13A5 PLCB3 HEPACAM IFT140 KLHL41 HIRA SLC25A4 SVBP B3GALNT2 DST ARMC9 SLC26A4 NRAS CSPP1 HSD17B4 PEX3 SIX3 FOXG1 TELO2 ELN EXTL3 MCCC2 THOC2 CLCNKB MEF2C PET100 MOGS SOX11 GNB5 KLHL41 USP9X TRMU ND4 SOX4 CKAP2L PTS SCN9A MLYCD CHKB COLQ SON COL2A1 KLHL41 SPEG TRIP4 ACTL6B GABRB2 KCNQ5 PAM16 NRAS PEX2 MRPS22 FRRS1L FAT4 GPX4 OPHN1 PCCA DDR2 QARS1 NTRK2 HNRNPU PACS2 SELENON ACTA1 CHRND SLC25A19 MED13L RARS1 SHH DAG1 ADSL CASK DDC TRNV TANC2 NUS1 SYNGAP1 NEXMIF DENND5A ACAD8 TRMU GALC RNF13 OCRL SLC17A5 TOE1 GMPPB SLC25A4 NAGA NDUFA11 NDUFS3 TMTC3 SLC35C1 C12ORF65 ALDH18A1 ARX SLC35A2 AHSG NDUFA12 ADK GRIN2A SLC25A20 GAS1 KLHL40 GABRA5 ORAI1 AMPD2 LMBR1 SNRPN FGF17 SCN2A SLC13A3 DEAF1 USP45 FGFR1 TRMT1 PDP1 SLC7A7 UBE3A FGFR1 RARB MTM1 MAST1 ZNF469 TAOK1 POMGNT2 KMT2D DLG3 SOS2 TBCK WDR73 FOXRED1 MICOS13 ACAT1 TMEM216 DCHS1 FLNA SIL1 DLK1 DCHS1 CNOT1 DALRD3 SPR ZEB2 ARID2 QDPR GLE1 B3GAT3 EBP EXT1 KCNH1 MED12 MRAS MRPS28 PLP1 RAC1 FGFR3 KIF15 PUS3 FLAD1 FIG4 BIN1 VAMP1 TH ADCY6 SLC25A22 ND3 ACAD9 MSTO1 PDHA1 TNFRSF11A FBXL4 ASXL1 CHRND LARS1 GMPPB MRAS NSD2 HS6ST1 DPF2 PDP1 MAN2B1 CEP104 SCN1B AP3B2 DDX6 PTCH1 CA8 LRP5 LMNA GPAA1 CHD4 NDUFV1 WASHC4 FMR1 MCOLN1 ST3GAL5 RNASEH2A CIC ODC1 GPT2 NDUFA13 GABBR2 BCORL1 PIGW NDUFA4 ND1 COG7 COG4 ABCC8 SLC34A1 PAFAH1B1 STAG2 PTCH1 MPC1 PEX7 TBCD NDUFAF3 PSAP ABAT ALDH5A1 GATAD2B SNRPN NACC1 RBM10 NUP214 ASH1L TCTN2 TNXB TACR3 TBCE GLYCTK PEX14 KANSL1 NOVA2 EIF2AK2 DBH COL1A2 NDUFS3 WNK1 FASTKD2 NDN TCF20 MRPS16 C12ORF65 RAI1 DPM2 OPHN1 NAGS BMP1 OCA2 MYMK PCGF2 FLCN ALG11 NANS RPS20 HLCS NDUFA11 NONO SNRPN SCN9A SLC25A1 ITCH SLC39A8 PTRH2 LYRM4 POLG ZNF423 FMN2 UGDH TUBB2B POMT2 NKX6-2 RD3 NDUFS8 NDUFB8 CACNA1C PBX1 NDUFS6 AEBP1 POMT1 FBXO31 ACY1 COL6A2 TOR1A COQ4 TBL2 BMP2 CSNK2B HERC1 DNM1L METTL5 POC1A GRIN1 TUBB2B CWF19L1 NEXMIF CSNK2A1 MTOR MEG3 RFC2 SARS1 TRAPPC9 SNORD116-1 TMEM165 NOP56 CAD MN1 POLR2A NDUFAF5 SGPL1 GRIN1 RRM2B PAX7 MPLKIP TPM3 TRNT PPP2R1A SURF1 SIX3 PRUNE1 SELENON SPARC B3GALNT2 ATRX SZT2 CRAT PROP1 SAMHD1 RPS6KA3 MRPL12 MMACHC TCTN1 CDON SRPX2 B4GALT7 PRPS1 NMNAT1 FKRP NDUFV1 SMC1A FOXRED1 MEG3 RAF1 CACNA1B COG6 LMNA BCL11B PRDM16 EDC3 UBE3A RPS23 LAMB2 ACTL6A NDUFS7 MYPN TK2 ZIC2 VLDLR UBE3A ITGA7 NUBPL ERCC2 COX15 PRKD1 PTPN23 TRIT1 PAX8 TUBGCP2 LARGE1 EXT2 HADHA ACTA1 UBTF KCNK9 NDUFB3 ARL13B TUBA1A NUP133 GPC3 ACTA1 KIFBP RERE DMPK CEP290 ZC4H2 TRNE SKI TMEM237 ASPA LARGE1 PGM3 DCC TRNW SMC1A POMT2 SLC46A1 MTFMT RTTN RB1 MED12 CHST14 SLC25A46 DLAT TBCE RAB3GAP1 PTCH1 VRK1 KCNH1 B3GALT6 MYT1L GLI2 PDHA1 GAS1 PCDH19 CSF1R NDUFA13 LGI4 AP4E1 ZNF148 ANOS1 ANK3 LCA5 SET ACTN2 NDUFV1 ATP7A GLUL TMEM199 TMEM106B PEX6 MAGEL2 WARS2 EBF3 DGUOK CRPPA PTEN H19 TG ALG12 WWOX GTF2H5 OPA1 PIGC ALG1 PIGP UBA5 SGCE RELN COQ8A MAP2K1 RIN2 PRX SCN1B PARS2 TMEM138 BMPR1A CHD7 NDN TMEM70 POMT1 TDP2 SMPD4 ALPL NKX6-2 RET TRMT1 PEX5 NRROS SNRPN PRPS1 RERE RSPRY1 TPM2 TP53RK C2CD3 NDUFV2 APC NDNF HSD17B10 PPP3CA B9D1 WHCR ACSL4 GFM2 MTMR14 STXBP1 SARDH ND6 GAN EP300 DDOST MAGEL2 GMPPB NDUFS4 FXR1 AHDC1 MRE11 MFF HCFC1 INPP5E CUX1 PAX8 GMPPB DLL1 TRAPPC11 CRB1 MECP2 NODAL GRM7 POU1F1 VDR ATP6 ERCC4 MTFMT PMP22 PYCR2 NDUFAF1 RFT1 HDAC8 USP7 ATP6V1B2 FLII CPT2 ATP6 WASHC5 COA8 CLTCL1 TOE1 TMEM67 AP1S2 RLIM DPF2 MARS2 NEU1 CHAT PIGQ INS FGF12 BTD SDHA MVK

Protein Mutations 1

R404C

HP:0001249: Intellectual disability

Genes 2983

MERTK MBD5 SH2B1 SMARCB1 PDHX MAGEL2 B3GLCT GNPTAB MEGF8 SCYL1 TREX1 RPE65 GRIA2 TRAPPC11 TCOF1 KAT6B POMGNT1 CHAMP1 OFD1 PLK4 PHF21A BRAF CNKSR2 NTN1 NTRK1 CTNND2 ALDH18A1 ST3GAL3 ARVCF SIX3 PPP2R1A SLC2A10 ANTXR1 ARHGEF9 CNTN2 RREB1 TOPORS OCA2 TUBB4A LETM1 FBXO11 IFT172 ELMO2 DDHD2 ERMARD AP4B1 PLP1 SPATA5 EFTUD2 TERT KCNH1 RPS6KA3 GJB6 AARS1 LRAT HRAS LARGE1 AIMP2 BUB1B DMD PCNT FOXH1 TBC1D20 ANKRD11 OPA3 KNL1 CEP290 KCNQ2 SPATA5 BRSK2 BRIP1 VPS13B TBC1D24 BRAF RAB18 SEC24C CDK8 TUBB2B GABBR2 TBX1 TULP1 HCN1 ZIC1 NUP62 TBC1D20 B3GALT6 GCH1 PGAP2 MBOAT7 TSC2 FGFR3 FANCG GHR GMPPA WAC L1CAM GNS FAR1 VPS53 GRIN2B EVC2 FGFR3 GPT2 FLNB CUX1 ATP6V0A2 TPM2 PRMT7 PC ZIC2 SIN3A RTL1 SLC12A6 EFEMP2 C8ORF37 GRM1 TRIO KRAS STAG1 GJA1 DNAJC6 ADGRG1 PITX3 KMT2A CLCNKA ERF VPS13B PHGDH SUFU POMT2 PTCH1 HNRNPK SPATA7 IGF2 ATRX MYT1L AHI1 ERCC3 JRK SCN1A GK EEF1A2 RELN IRF2BPL VAMP2 ARL3 RRM2B IFT27 GLUD1 PHKG2 ATP6V1E1 ASPM MAP2K2 DLK1 SMC3 ZMYND11 PPP1R15B SPOP AMMECR1 HNF4A SDHA CNOT1 ACTL6B MADD ERCC8 PPP2R5D SOX3 FANCL NDUFB11 CPLX1 MAN1B1 KCNB1 EMC1 RAB23 SHH LYST GRIN2B SEMA6B FA2H RBBP8 ABCA7 TKT SLC2A1 NTRK2 RAB3GAP2 SEMA3D MYRF HRAS APC2 GJA1 RDH11 GLI2 MAF FLI1 SOX3 ANK3 MTOR AGPAT2 KIAA0753 PNKP SCO2 MKS1 TAF2 IYD PUF60 CLCN4 CCBE1 AGA TAF1 NCAPH FANCF WDR11 POU3F3 TDGF1 PIK3CA WDPCP PPP3CA PAX8 RPS19 PNKP CHRNA7 KAT6A LAMA2 FLI1 ZIC2 SLC29A3 DLL4 IMPDH1 MBTPS2 MCPH1 NT5C2 UPF3B DISP1 DHDDS EIF2S3 KRAS SIX3 AP1S2 APP PEX7 RPE65 TCTN3 TRNN SLC19A3 DLAT GLI3 DCX L1CAM LHX4 ALX4 MAG USH1C CC2D2A NIN CCBE1 GK HNRNPA2B1 ZIC2 WDFY3 KYNU CDC42 MKS1 LAMA2 GABRA2 FLNA BBS9 KCNMA1 MED23 CAMTA1 FGF8 DMXL2 BRAF NTRK1 PCDH19 SC5D SHH PAK1 SYT14 POMT2 SYNGAP1 WT1 HACD1 CREBBP TMEM107 WWOX MMP2 OCA2 XPNPEP3 HSPD1 NODAL SKI PORCN CEP57 SLC26A4 UBE2A GALNT2 CEP41 CDH23 SLC9A6 RAD21 EZH2 SCYL1 MED25 VCP SMARCA2 ASL ADAT3 ECHS1 TBR1 IDUA USH2A DLL1 RNF113A SLC35A3 CASK TCTN3 SLC6A8 DGCR6 FGF12 FGFR3 ALDH7A1 CKAP2L CDON DUOX2 PPM1B DEAF1 STRA6 EED SIK1 ETHE1 SSR4 TBC1D23 TONSL CIT TSHR TYMP SLC13A5 FOXG1 MAP3K7 FGFR1 HYLS1 ARX UBE3A CENPE UGP2 PPP2R5D GLI2 SLC2A1 TACO1 EYS HCN1 AASS ARL6 SLC2A1 ANO10 CNKSR2 ATP8A2 TAB2 CEP19 CARS1 THG1L APC CIT GDNF EDC3 SLC18A3 PHYH MYSM1 USP9X PEX1 RMRP CUX2 CHSY1 ALOX12B DLL1 NSUN2 TCF20 TSPAN7 TECR TUBB ALDH3A2 DHX38 FGFR3 SORL1 GNB5 CUL4B AUTS2 MEIS2 DYNC2LI1 PRODH WFS1 EBP POMT2 AIFM1 PRCD BRAF RBM28 PRPH2 TP63 TWIST2 RPGRIP1L GBA2 TUBGCP6 FBN1 KAT6B SLC29A3 CNTNAP2 ACVR1 NDN PEX5 NTNG1 AIPL1 SLC2A10 CTSA SPOP PGM3 CHRNA7 MBD5 MMUT FANCE C12ORF4 SHANK3 SLC6A17 PNP PTS ZEB2 EDN3 XPA MAN1B1 GNAS BCAP31 WWOX ATRX SYNJ1 DGCR2 STT3A DPAGT1 INPP5K HCCS GBA SUFU SYNGAP1 PARN SATB2 PPP1R15B CLIP1 PSMD12 COLEC11 AGA CPLX1 SLC9A6 GNPAT MKKS CEP104 FANCC SLC6A20 PDHX ZNF592 CAMKMT MED12 PIGL USP9X MCCC1 CRBN POMK MKS1 DCC ABCA4 TAF2 ATAD3A RIT1 GLI2 RNU4ATAC NEU1 MGAT2 KANK1 NRTN KIZ RAB3GAP2 TIMM50 HERC1 HCN1 FKTN ACOX2 GAMT KRT86 C2CD3 IMPA1 MKS1 FAM126A MAGEL2 SYP NSD1 DPAGT1 TPM3 SHH NDST1 SMOC1 TAF13 FBLN1 PCNT SOX10 FOXI1 IQSEC2 AP4M1 DDX11 TMEM216 BRCA1 CISD2 GSS BUB1B TRNS1 MED12 CLCN4 RPS6KA3 STAC3 BRPF1 DNMT3A BSCL2 MFSD2A ATIC SLC6A8 SRD5A3 FOXH1 KCNJ10 CPS1 NDUFA2 ALX4 FGD1 CYB5R3 GRIN1 GLRB COG8 MECP2 NDUFV2 LSS USF3 CERS1 FLNA H19 LARP7 OTX2 BCL11B RBMX NDST1 WAC SLC36A2 STRA6 NDUFAF3 NDUFAF2 FANCB B4GALNT1 PCYT1A UNC80 SLC1A1 KY RNU4ATAC PUS7 FA2H PSEN1 GLI2 ADARB1 ERCC6 ACAT1 TAF13 SMAD4 PAX6 TRAPPC9 TCN2 UBTF AHI1 RPGRIP1L IQSEC1 DOCK8 YARS2 RPL10 WDR26 GABRB2 MYO5A ABCC8 BSND GAS1 CCDC22 MED23 DMPK ERCC5 COLEC11 PRICKLE1 PTCH1 STAT3 AHSG ZFYVE26 SLC1A4 AHI1 KAT6B STAG2 POLR3A KDM3B CCDC88A PI4KA MYH7 ARMC9 RDH12 INPP5E EED DLL3 TRAK1 FUT8 AP1S1 ASXL2 KIF11 MSL3 HADHA UBE2A B9D1 HNRNPK TRAPPC11 FREM2 SRD5A3 PIGY TGIF1 HELLS IDS CACNA1A NSDHL MTHFD1 SETD2 VPS13D SLITRK6 HHAT SMARCD1 SOX2 ATAD3A PQBP1 ATP8A2 TELO2 SHROOM4 DKC1 HIVEP2 GLRA1 TDGF1 IGF1R ADNP CA4 POLG TLR3 RIPK4 FRG1 PGAP1 CA8 TRNN PYCR2 WNT5A SIX3 GTF2E2 RGR TMEM67 CEP41 VLDLR SASS6 CHD7 ZNF462 TCF4 PRRT2 TNFRSF11A SDCCAG8 ABCA2 ATRX HES7 ZBTB18 RPE65 AP1S2 FOS SLC39A14 RBM10 FGFR2 ORC1 CC2D2A BMPR1A MAP1B BBS12 TCF12 FGFR2 SCN1A HSPG2 FOXG1 GATAD2B H19 MED12L TPO ALDH18A1 RPGRIP1 SDHD DVL3 SLC12A1 PPARG WFS1 SELENOI GNAS NRL ALG9 UQCRQ GAMT PRPS1 FANCB OFD1 DMXL2 TUBGCP6 ANKRD11 NTNG1 MYO7A FOXP1 SMPD1 GATM BCS1L ATP6V1A NODAL OPA1 PHF6 ROR2 IER3IP1 CHD1 KDM6A CLPB CDK5RAP2 SEMA3C NONO NALCN PIGC PCNA PIGU RIPPLY2 WDR45 NXN SUFU UBR1 NODAL TCF4 CSPP1 ARHGAP31 NODAL GNE CUL4B BBIP1 POLA1 DHCR7 TRAPPC4 DHX30 ZNF711 WARS2 SLC7A14 NECAP1 RP1 CAVIN1 TBCE POMT1 PHF6 ARID2 BBS1 PUS1 PUM1 ASXL1 FGFR1 ARX CNGB1 MBOAT7 RLIM RRM2B SETD5 ZNF408 EIF2S3 DCAF17 RAB3GAP2 DNA2 FZD2 GCSH DNM1 GATA1 CTBP1 SPTBN2 UROC1 KCNJ6 SNX14 NODAL ARX PTEN HUWE1 SOX4 SAG RAC1 SYNJ1 CSTB NFIA ERCC6 CEP63 FGFR2 UBE3A HINT1 BCOR BBS10 EPB41L1 COL3A1 VARS1 TMEM67 SUFU GJA8 FGF8 GAS1 B3GLCT GDI1 ADAMTS10 CPLANE1 AP4S1 ELN FANCD2 FGFR2 SMARCA2 CAMTA1 NF1 NUS1 MYT1L FKRP CC2D1A GP1BB CYP27A1 FRAS1 QDPR PMM2 PAFAH1B1 CEP41 DLL1 GRIK2 TXNRD2 LARGE1 GABRG2 IKBKG PTEN FUCA1 PAH KIDINS220 ARID1B AGGF1 RXYLT1 CLTC SLC12A5 RUBCN PIGW CCDC88C TLK2 ORC4 NOTCH1 DUOXA2 SEMA5A P4HTM TTI2 SEC23B AP4M1 BIN1 CDON SLC2A1 DLG4 ADAR RARS1 CHD1 SUMF1 SLC3A1 GDI1 CA2 SOX5 EYA1 RBBP8 BRAT1 HESX1 CC2D2A PLPBP PTCHD1 CEP83 CAMK2A SUFU CREBBP TBL1XR1 BBS4 GJA1 BCS1L IFT88 NDUFB11 CC2D1A DOCK6 PLA2G6 KNSTRN PNPLA6 AP5Z1 ARX PHOX2B CDK19 KMT2E SLC5A7 RPGR GRIP1 INPP5E CERT1 FANCD2 FAT4 USP7 KIF14 GPC4 GORAB ARHGAP31 SCN4A MAPRE2 NAGA PUS3 NKX2-1 MEG3 ZIC2 MARS1 ROGDI GUCY2D TDP2 ZNHIT3 DNAJC21 ZMYND11 DISP1 SLC35A3 XYLT1 ATP1A3 KCNH1 CDK13 MED25 FOXH1 FLNA AP4E1 KCNC3 YWHAG SEMA3E IKBKG PDSS1 PNP DHTKD1 FGFR2 ARID1A NAGA TG MED13 LIG4 RSPRY1 FLNB BLM INPP5E ATP1A2 ACD AP4S1 KATNIP MOCS1 TTC8 YWHAG TSC1 TREX1 GRIA4 ALDOB ZNF81 IFIH1 KIF1A RPS6KA3 NRXN1 PLK4 FGFRL1 PODXL DPH1 MASP1 UGT1A1 ARHGEF2 XYLT1 HNMT WDR37 NEDD4L CDK10 GLI3 DYNC1H1 ZC4H2 ALDH7A1 AAAS WDR62 CAMK2A OTC CDC45 ACO2 COLEC10 TOMM40 KIAA0586 RAI1 SH2B1 KPTN MECP2 SNRPN SON FRMD4A CEP63 SBDS PNPLA6 RBM28 HNMT TBC1D24 GRIN2B SLC25A15 DMXL2 SPATA7 HDAC8 NHS PLK4 TRAPPC11 PRMT7 FKTN KIF14 SLC5A5 COL2A1 PTCH2 ARHGEF18 SMARCA4 SUMF1 GUSB DHCR7 MMACHC KDM5C GUSB PIGG C12ORF57 SDHB TRIM32 CAMK2B GMPPB SLC35A1 AMER1 XYLT2 KIF7 DYM MYH3 KCNJ13 TECR TBCD FGFR3 CEP57 PPT1 FGFR2 PLEKHG2 AKT1 THOC2 SDCCAG8 PEX5 NUS1 FRMD4A SOX5 BCKDHB SARS1 KANSL1 CEP120 PURA HMGCL PIEZO2 SATB2 ACP5 TBL1XR1 PAX6 ATP7A ADAMTS10 DNM1 FANCB SMARCD1 AFF4 TUSC3 TTN ALG13 ERCC1 PLAA PCNT OFD1 PRPF8 TET3 KLHL7 CLTC CDON PTPN11 WDFY3 PTCH2 ACTG1 TENM3 PAX1 SOX11 TMEM240 NNT OTUD6B WDR26 CRX DBT CDHR1 SLC45A1 DEAF1 STRADA PSMD12 STXBP1 CACNA1A SLC35C1 H1-4 ATP5F1E COG5 CLN5 ANAPC1 ASXL3 SLC1A4 TRIP12 TCF4 AGRN PHF8 CTCF ERCC4 FBLN5 TMX2 SCN8A GLUD1 ACTB CLRN1 ACTA1 CACNG2 NIPBL SMAD4 LIPT1 LAMB1 FGFR1 HECW2 FKRP SETD2 MARS2 PCDH15 TBR1 CDH15 PHF21A TAF6 ZIC2 ZIC1 B3GALNT2 MANBA SRP54 LINGO1 DDHD2 MID2 NCAPD2 KCNJ10 FLVCR1 RAD51 INSR COG6 PIGN MMP14 NDUFA10 MED12 SLC13A5 SLC6A19 UFM1 ADAT3 APC2 FGF14 KIF7 MGAT2 LHX3 ARID1A CRLF1 TBX1 NSD1 ARG1 KCNN3 AIFM1 SMC1A PIEZO2 REEP6 LMNB2 CREBBP FGFR3 FBXO31 TMEM237 NDUFS7 EML1 PDE6D ATP6V1A TMEM231 TBX1 AKT1 ATRX UBE3B MECP2 PGAP3 FOXE1 TULP1 GABRB3 PIK3CA NDUFS8 DEPDC5 PRKAR1A GCK SPG11 EHMT1 ATP1A2 DNAJC12 PNPLA2 WASF1 NDUFAF5 FOXP1 FUCA1 TMCO1 RNASEH2C NSD2 LHX3 ROGDI FH NF1 NLGN3 ARFGEF2 NOP10 TRAIP PEX5 CRADD PDHA1 PTCHD1 CRBN ATP6V1A TRPS1 MPDZ ERCC4 BBS1 ARV1 EP300 COL1A2 FAM149B1 SPAST TRAPPC9 ASL IMPG2 AVPR2 DNAL4 TGIF1 NEUROD2 MBTPS2 TMEM107 TMEM240 KPTN ZNF41 SSR4 FGFR1 PIGP HNRNPU DDX3X TRNS1 CEP152 KDSR STEEP1 STIL HAAO ALG2 GABBR2 ASXL3 MAP2K1 TUB CIC MKKS ECE1 TRAPPC6B DNMT3A CTSA ITGA7 SAR1B ATAD1 AFF4 SUCLA2 RAB3GAP2 TMCO1 RTL1 DVL1 EPB41L1 COQ2 SMO FBXW11 SRPX2 OFD1 ENTPD1 NKX2-5 IGBP1 TSC2 RAI1 CHAMP1 SOX3 PHIP KCNN3 GAD1 TUBA8 CHD2 FGF8 GRIK2 NDP STT3B CAMK2A TCF4 AMMECR1 TANC2 SNAI2 DPYD TWIST1 GCK POGZ CDCA7 POMGNT1 TCTN3 WDR62 KDM5C CDON PDE6G GLI3 MANBA TAT TDGF1 SMARCE1 POU3F4 HACE1 LHX4 SOBP GJB3 KIF5A FOXH1 ACOX1 MVK PPP3CA B4GAT1 AIFM1 CNGA1 WDR45 GNB1 LAGE3 EHMT1 PURA TCIRG1 POU1F1 DYRK1A GABRB3 NDUFS1 SAMHD1 PTEN TGIF1 ARX MLC1 FBN1 CCDC28B GTF2I ABCC8 SCN2A FMR1 ELOVL4 HGSNAT GNAQ EFNB1 GUCA1B MYO9A CYFIP2 KCNA2 NHP2 LMAN2L SRD5A3 FRMPD4 IFIH1 CLPB COL13A1 GNAS ATP6V1B2 GMNN AMER1 SETD5 POMGNT1 AHI1 ZSWIM6 CRPPA HK1 POR NFIX RNU4ATAC OFD1 GPR161 MED12L XYLT1 DYRK1A MEG3 ADCY3 POMK SCN8A RNF135 UPF3B CDH2 KIRREL3 TSHB SKI RAD51 UPF3B DHDDS TSHR OTUD6B NDUFA9 HCFC1 SYNE1 ESPN MKKS NPHP1 XRCC2 FGFR1 FSCN2 GPHN NRAS ERCC6 ZDHHC9 SLC1A2 PACS1 PMPCA ST3GAL3 PTCH1 ANK1 NIN GLI3 SLC5A5 PNPLA6 FTSJ1 LYST AHR SLC25A22 LETM1 TKT PGK1 PGAP1 CLN8 MYMK AIFM1 RFWD3 XPA IGF2 MBTPS2 CEP290 HPRT1 ATIC GNAQ ERCC8 CA2 PREPL ST3GAL3 SCAPER FAR1 DLK1 PRKAR1A MLXIPL FMN2 PRPF31 PIGN IQSEC2 TBL1XR1 NLGN4X CHMP1A DCC TMEM237 NKX2-1 WDR48 GUCY2D ACSL4 SFXN4 GNAO1 NTNG2 KLHL15 SYNJ1 CSNK2B SGSH BAZ1B TRAPPC4 VPS11 MED12 CRADD KIFBP TANGO2 GRIA3 MID1 GRIN1 MEIS2 POMT1 ARHGEF6 COX7B PRSS12 DYNC1I2 ACOX1 RNU4ATAC ERCC2 KCNAB2 CENPJ DAG1 SOST TRIO SPR PAH ERCC5 CTBP1 DISP1 UBE3B EZR NTRK2 CDKL5 KMT2D SPG11 FIBP SLC6A5 UBR1 EEF1A2 SLC16A2 PET100 KCNA1 CLTC NFE2L2 BPTF HSPG2 ACTB IARS1 ERCC6 MAGEL2 SLC2A1 SBF1 C12ORF57 IQSEC2 AMT TECPR2 GTF2IRD1 KCNK9 WASHC4 SLC9A7 KRAS RAB39B ATP2A2 FRMPD4 CDK6 D2HGDH MGP CDK6 SPINK5 POLR1C SLC25A24 NGLY1 GNAS PGAP2 NAGA PUF60 LARP7 STARD7 STAG1 FANCM MECP2 RPL10 CEP85L CTNNB1 ANO10 PACS1 NELFA NAA10 GNB5 KCNJ11 GLI1 STXBP1 CTCF PAX2 STEEP1 PIK3CD LRP5 ARSA ASS1 USP9X SETBP1 ZIC1 LMNA SVBP ADAM22 PIEZO2 GJA5 ATP6 FKRP CYP27A1 PROKR2 EBP RTL1 ARHGDIA SIM1 L2HGDH GJB2 TP63 NACC1 SDHA CDC6 NF1 AP1S1 LAMB2 HBA1 ACTL6B RAC3 ATP6V0A2 MYO5A MORC2 STT3B OFD1 PEX10 PMPCA MEF2C NKX2-5 DDX59 NSD1 TH MTHFR TRH SATB2 ERCC8 GMPPB RYR1 SCAPER PEX2 VPS11 KIT SUZ12 FOXH1 CLCN4 GABRA5 SURF1 BRF1 AFF2 MECP2 KMT2C MAPRE2 SERAC1 HRAS AKT1 TSC1 ACER3 TRMT10A XRCC4 NIPBL SLC1A2 MBD5 PQBP1 PTRH2 KMT2A GAS1 LTBP2 DLK1 MYCN PDE4D SHOC2 METTL23 SLC13A5 GMNN ACTB DGCR8 FBP1 TUBB3 PDE4D MRAP ADAMTS3 GLB1 SOX10 SPECC1L ERCC3 DNM1 CBS DAG1 KDM5B COG8 FGFR2 FGFR2 RNU4ATAC GPC4 PPP3CA CDON CLN3 NPHP1 FKTN TINF2 KCNJ1 MIR17HG SNRPB ERCC2 DISP1 ATP6AP2 LSS NLRP3 TMEM70 NDUFAF6 FLNA LIG4 MAP3K20 POMT1 SIL1 FKTN RAB3GAP1 FOXE3 NF1 DNMT3B SRY CENPJ CNOT3 RLBP1 PAK3 RTTN KCNA2 EEF1A2 CDH15 DPYS TDGF1 KDM5B PSEN2 TMEM216 CACNG2 NFIX FTSJ1 RFT1 COX15 PCDH12 GORAB CWF19L1 ROM1 SLC35A2 CNPY3 FGF8 CDKL5 POMT2 SLC4A4 ABCC8 PPM1D ZBTB24 MMADHC DPYD HBA2 ERCC2 DCAF17 AP4B1 ESCO2 GJB4 RAD50 EXT2 BEST1 ROBO1 GTPBP2 KMT2A MTRR CYB5R3 STXBP1 RP2 TBC1D7 ASCL1 GATA6 DIP2B PAX1 BBS9 ARNT2 CHD8 PAX3 SNRPN TGFBR2 SLC45A1 STAG2 LMX1B KCNA2 ADSL SIX3 HNF1A L1CAM LAMA1 RAD51 LONP1 ZC3H14 ZBTB20 DCPS SAMD12 ABCC9 KIF1A SLC25A15 QRICH1 KCNJ10 ERCC8 UNC80 PGAP3 WDR81 KCNQ2 SUCLA2 RNASEH2B PTDSS1 WT1 KCNQ1OT1 FANCC HERC2 POLR3A SKIV2L MAF TRPM3 CTNNA2 TUBGCP4 CASK NPC1 FANCI NDUFS2 USP27X CANT1 SPART UBA5 AP2M1 TFAP2B PLP1 ITPR1 ZFYVE26 GUF1 SELENON ATP7A HTT MFSD2A ZIC2 KLHL7 RNF213 NPC2 TTI2 PIGV FGF8 LINS1 SBDS RET COG6 POMGNT1 CERKL CPLANE1 KDM6A LAMP2 GPC3 WNT5A FRRS1L DYNC1H1 PTEN BBS7 DDX6 SYNGAP1 PQBP1 HNF4A COG5 ETHE1 DVL1 GRM1 FANCA NSDHL TRAPPC14 KLLN BBS7 IARS1 KNL1 ZNHIT3 KIF1C C12ORF65 GPI GAS1 FBXW11 MAN2B1 OGT ACTA2 PTCH1 MGME1 WIPI2 NGF CDH11 ATP6AP2 L1CAM FGF8 GLI2 LBR NDE1 ARID1B ZBTB18 BRAF CWC27 BCOR FLNA CEP152 MMUT IQSEC2 GNAQ ALG11 SMARCA4 KIAA1109 SET CLP1 XPC PMPCB ELP2 NFIX SLC26A4 CD96 L1CAM ACP5 SPEG BCS1L DNAJC21 NDP MAT1A MYCN IGBP1 BRAF LMNB1 IFT172 ADGRG1 TACO1 FMR1 VAMP1 DDX59 PAH ESS2 IQCB1 DONSON CAMK2B MYO5A ALDH18A1 LYRM7 EXOC6B DLK1 TWNK PROKR2 PLPBP ARL2BP FGFR3 TGM6 ASH1L HPRT1 UPB1 GABRA1 PIGL CACNA1A SLC2A1 WDR73 CTNNB1 HDAC6 JMJD1C RSRC1 KCTD7 AGBL5 BUB1 ERLIN2 PROM1 PALB2 GMPPB GALT SHROOM4 NRXN1 C12ORF65 OCLN SLC2A1 ZC3H14 PISD UFC1 TMEM237 TNIK TBX1 PIGT TMLHE KLF13 PEX12 FKRP KAT6B EZH2 HCCS IFT140 STXBP1 CDH11 GLDC TIMM50 PLAA FGF14 LIMK1 MYT1L HMGA2 GTPBP3 ZBTB24 ASPM DARS1 CTSD KRAS MAB21L2 TRMT10A DARS2 ERCC3 DSG4 IDH3A EP300 GNAO1 SOX10 YY1AP1 EP300 CDC42 CDKL5 TANGO2 RPGRIP1L PIGO COL4A1 DMD RHOBTB2 ATL1 BPTF KCTD7 SIN3A GNB1 SLC6A19 SMARCB1 PLP1 SNRPN BRCA2 NSUN2 ARX ZMIZ1 PTCH1 BRAF HNRNPK EDNRB RAF1 PRSS12 NDE1 TGIF1 TUBB ALDH4A1 SLC39A8 DNAJC19 TAF1 ATRX KRT83 DOCK7 RAB39B AGL SMARCC2 ERCC2 DEAF1 NSDHL SLC39A14 TUBB3 ADGRG1 PSMD12 SCN8A RAB23 ATP6AP1 PCDH19 EMC1 FOXE1 HEPACAM DISP1 POGZ PEX1 GABRA1 IMPDH1 PIK3R2 IQSEC2 BPTF LAS1L FGFR2 RAB3GAP2 NT5C2 ESCO2 LONP1 GRIN2D TGFBR1 ARCN1 PIGV SUCLG1 IDUA HESX1 BCOR MCOLN1 KYNU NEU1 B4GALNT1 TGIF1 ATP1A2 UBE3A FIBP ERLIN2 CPLANE1 PEX6 ZMIZ1 WDR45B HDAC4 SLX4 TSC1 DNMT3B CDT1 GOT2 ATP6V0A2 ATR LEMD3 SETD1B CNTNAP2 CLIC2 GABRD EHMT1 TRIM8 FIG4 SETD5 MKS1 DOCK3 ABCC9 SMS SETBP1 SURF1 TFAP2A ATRX FTCD UFD1 GDF6 ARL13B PDE4D ZDHHC9 SHH MGME1 HNF1B ASAH1 DHX16 HNRNPH2 UBE2T SRP54 DNAJC6 MECP2 DKC1 ERCC3 TSHR SHANK3 ALOXE3 BBS5 ATRX ZFR CACNA1A PRPF3 SMS ERCC6 FGFR3 KMT5B RUSC2 MED13L NHS KANSL1 GRIN2A PTCH1 EIF2AK3 NR2F1 ARV1 RAB18 TDGF1 PRKRA ARL6 SACS SEPSECS BBS4 YAP1 CHD2 RAI1 NDUFS2 BCKDHA NR2E3 PCARE MAK PHKA2 SALL1 STXBP1 ZEB2 KDM5B PIGO SMC1A MAP2K1 ZBTB16 L1CAM PIBF1 PAX6 ERCC4 SPTAN1 INPP5E SIX3 OCRL METTL23 TWIST1 PAX3 HSD17B10 TWIST1 SMC3 YME1L1 COG1 FBN1 DAG1 PDX1 FLNA TRNL2 IQSEC1 DIS3L2 CEP152 RAB11A DLL1 MASP1 RBPJ MICOS13 HIVEP2 HNRNPA1 SHH MSTO1 CEP290 PRPF4 ADAR MTRR DAG1 MYL2 HDAC8 ITGB6 TSEN15 YY1 COL4A1 SRPX2 STAG2 LRAT PGAP1 EFL1 BUB3 ALDH5A1 AQP2 STT3A KIF1A CRX NSD1 KIAA1549 SLC6A17 C12ORF4 TRIP13 DNAJC3 KMT2C DDX3X PRPF6 NARS2 ATP7B AMMECR1 BCR RSRC1 BBS2 SNAP29 RNF125 PSPH SCN3A AHDC1 PQBP1 PLP1 CNNM2 FANCA IYD SNAP25 ATR CENPJ DLL1 LAS1L EXTL3 KCNE5 ARL6 DHDDS MAN2B1 COMT KAT6A KRT81 ARX GCLC CDK19 KCNJ10 NECTIN1 L2HGDH CDK5RAP2 NGF LARGE1 ERCC4 RPS6KA3 PRKAR1A AUTS2 SALL1 KCNC3 TMEM67 PYCR1 FOLR1 IL1RAPL1 IGF1 GRIA3 OCA2 CYP24A1 ATP6V1B2 LHX1 TGIF1 DEAF1 INPP5K ITPR1 FAT4 PCYT2 ALG13 YY1AP1 NSUN2 AGTR2 AHCY EPG5 INSR ERCC6 PRPS1 POLR3B BRWD3 DUOXA2 DDB2 CASK RTL1 FGFR3 SATB2 CNNM2 KIF11 SHH PQBP1 ARID1B ARL3 GABRG2 PDE6A MTOR HACE1 OSGEP POMGNT1 ANKLE2 FKRP GPR88 SPECC1L SHH PTDSS1 RORA YY1 ARX SAMD12 AKT1 LMBRD1 IFT172 LZTFL1 PEPD BRF1 GALT EVC2 SNRPB RBP3 GAA CTNNB1 CEP120 CACNA1G MRPS2 AIMP1 GAN TAT PTEN CPLX1 CEP290 NKX2-5 RAB3GAP1 NDN RAD51C LARGE1 RAB39B DLL1 GALE RAB39B PRDX1 KCNQ5 PRPS1 FKRP MTR MECP2 TTC8 CLIP2 SPAST LINS1 GPAA1 GRIN2A NTRK1 MAOA HEPACAM IFT140 IGF1R HIRA ACTG1 SVBP GPC6 ARMC9 SLC26A4 NRAS CSPP1 SIX3 ELN CEP135 EXTL3 MCCC2 THOC2 CLCNKB PEX6 MEF2C ACTB SNRNP200 SOX11 MSX2 FLVCR1 GNB5 EGF USP9X SHOC2 SOX4 CKAP2L AP3B1 GABRG2 PTS POLA1 COL2A1 MLYCD CHKB COLQ SON MIR17HG IFT74 COLEC10 HESX1 LAMP2 ACTL6B RANBP2 GABRB2 KCNQ5 ALX1 GNPTG HPDL PTPN11 NRAS ARL6 TRNL1 RP9 ABHD5 FRRS1L FAT4 TMEM67 OPHN1 TTC37 DACT1 RHO LDHD TDGF1 NTRK2 HNRNPU PACS2 AP1B1 RAF1 NF1 MED13L RARS1 SHH RUBCN ADSL PDE6B CASK TANC2 TUSC3 SYNGAP1 NEXMIF CYP2U1 NFIX DLX5 ZNF513 RNF13 OCRL SLC17A5 FGFR2 GMPPB NAGA MGP ARG1 TMTC3 TSPAN7 NAA15 SLC35C1 SCARB2 HRAS ARX FAM161A EXOSC2 NHP2 AHSG FRAS1 NDUFA12 TAC3 MYCN NBN GRIN2A GAS1 AKT3 GABRA5 LMBR1 SNRPN PTPN11 ADRA2B DEAF1 USP45 FGFR1 IGF1 STAR SASS6 MSMO1 HUWE1 ORC6 IDH3B PDP1 SLC7A7 PDE4D UBE3A AFG3L2 RARB EGF GNAS TAOK1 SIN3A POMGNT2 GRIN2A CBS MARCHF6 DLG3 WDR73 HMGB3 ACAT1 TMEM216 PCCB DCHS1 KIF4A PAK3 ZSWIM6 SIL1 DCHS1 APP DALRD3 SPR ZEB2 TRIO ARID2 QDPR CTDP1 MECOM EBP AP1B1 PCCA EXT1 PGK1 HSD17B10 KCNH1 MED12 EYA1 PLP1 RAC1 KIF15 PUS3 PHC1 BIN1 MECP2 PLP1 KIF7 CACNA1H ARSI MSTO1 PDHA1 TMEM231 ASXL1 KCNT1 EVC ROR2 NSD2 DPF2 HADH USH1G MAN2B1 RIC1 FLNA PIK3CA AP3B2 DDX6 BCL11A SRPX2 PTCH1 CA8 GPAA1 SYP CHD4 SEMA4A ORC1 ZSWIM6 NDUFV1 WASHC4 FMR1 ABCC9 USP8 ERCC4 CDON MCOLN1 RNASEH2A CIC HELLS FGFR1 POLR3A GPT2 TWIST1 NDUFA13 GABBR2 BCORL1 PIGW SMOC1 NDUFA4 CDCA7 ACSL4 FOXH1 STS MID2 PAFAH1B1 PTCH1 PEX7 TBCD ALDH5A1 PTEN PYCR2 GATAD2B NACC1 TBCE ASH1L DISP1 TCTN2 PPP1CB TBCE GLYCTK TSC2 KANSL1 NOVA2 MAPK1 IFNG NDUFS3 HNF1B MESP2 NDN RAI1 MC2R BSCL2 FAM149B1 OPHN1 OCA2 MYMK PCGF2 FLCN SLC16A1 NANS CAV1 DYRK1A L1CAM AP5Z1 LYST RARB NONO MCPH1 PEX7 FOXI1 MAN1B1 TAB2 IL1RAPL1 PEX11B SLC39A8 NEK2 TNIK APC2 PTRH2 DPM3 ZNF423 FMN2 TUBB2B POMT2 CANT1 STAC3 PSPH CTH SELENOI PIGL FGFR1 RD3 NDUFB8 CACNA1C ALX4 RECQL4 POMT1 FBXO31 TOR1A TBL2 BBS2 ZBTB20 CSNK2B EVC HERC1 METTL5 SDCCAG8 FANCE POMT1 GRIN1 TUBB2B CWF19L1 NEXMIF CSNK2A1 ATRIP MTOR MEG3 RFC2 SARS1 GATA4 TRAPPC9 MN1 VWA3B GBA2 GRIN1 MPLKIP POLA1 PPP2R1A SURF1 SIX3 SMPD1 BRCA1 B3GALNT2 PSMB8 PDE10A STAG2 CRKL LMAN2L CACNA1D ATRX BDNF SZT2 PROP1 CHRNA4 ALX3 SLC2A1 YAP1 SEMA3E MMACHC TCTN1 CDON ALDOA GBE1 SRPX2 PRPS1 NMNAT1 NUP62 SMC1A FOXRED1 MEG3 MED12 CACNA1B COG6 BCL11B GABRB3 PRDM16 FGFR2 EDC3 UBE3A ASAH1 RPS23 ADGRG1 ACTL6A HEPACAM TK2 ZIC2 VLDLR ITGA7 PRRT2 RTN4IP1 FAM126A MAGT1 TRIT1 PAX8 SOX2 LARGE1 STIL EXT2 ALX4 USP27X UBTF ARL13B GPSM2 TUBA1A KCNJ6 DCC KIFBP RERE DMPK SMCHD1 MAD2L2 RNU4ATAC CEP290 ZC4H2 TRNE PNPLA6 SKI TMEM237 PIK3CA PGM3 EOGT PUS1 SMC1A POMT2 SLC46A1 MTFMT RTTN RB1 MED12 CHAT CHST14 SDHC GLB1 DLAT TBCE COX7B SLC25A1 RAB3GAP1 PTCH1 VRK1 KCNH1 YEATS2 BBS2 MYT1L FAM50A GLI2 PDHA1 RP1L1 SRCAP GAS1 TMPRSS6 ALX1 CRB1 COQ8A FGFR3 SLC6A1 AP4E1 ZNF148 ANK3 SMARCE1 COPB2 LCA5 SLC26A4 SET CIB2 ATP7A HGSNAT BCOR TMEM106B DPP6 PHF8 MAGEL2 WARS2 EBF3 CRPPA PTEN HDAC6 GTF2H5 TG AFF2 FAT4 LRP2 CYB5A ALDH3A2 PIGC HPRT1 MAPK10 PIGP NR2F1 UBA5 METTL5 COQ8A MAP2K1 THOC6 TTC8 SCN1B CARS2 PARS2 TMEM138 CHD7 CEP135 MMADHC RBM8A NCAPD3 SLC12A6 POMT1 TDP2 BCKDK CREBBP SLC16A2 SNAP29 NKX6-2 RECQL4 THOC6 NAGLU RET TRMT1 ENTPD1 SNRPN IFT27 PRPS1 JAG1 ACVR1 DMXL2 RERE RSPRY1 WDR81 ARX ERLIN2 ZNF711 C2CD3 APC SYT2 NFIX HSD17B10 PPP3CA B9D1 WHCR ACSL4 DLG3 HPD NAA10 STXBP1 SARDH GAN FGFR3 EP300 MAGEL2 KIDINS220 GMPPB NDUFS4 AHDC1 ZIC1 HCFC1 INPP5E CUX1 PAX8 KCNJ8 GMPPB MAP3K7 DLL1 SETBP1 CRB1 MECP2 NODAL GRM7 POU1F1 PYCR1 ATP6 TCF12 ERCC4 RDH12 CTDP1 PLP1 HDAC8 USP7 TREM2 POMT1 NAGA ATP6V1B2 CTNND2 FLII CLIC2 ABCC9 DHCR24 RTEL1 WASHC5 COA8 LFNG GGT1 TOE1 TMEM67 C8ORF37 AP1S2 RLIM DPF2 SUZ12 NEU1 ASAH1 PIGQ CLN8 INS