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Report for Clinical Trial NCT01705626

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Screening for the Transthyretin-Related Familial Amyloidotic Polyneuropathy (TTR-FAP): An International, Multicenter, Epidemiological Protocol

An International, multicenter, epidemiological observational study investigating the prevalence of Transthyretin-Related Familial Amyloidotic Polyneuropathy (TTR-FAP) in participants with small fiber polyneuropathy of no obvious etiology.

NCT01705626 Polyneuropathy, Amyloid Neuropathic Pain Cardiac Failure Orthostatic Hypotension Gastrointestinal Disorders
MeSH:Gastrointestinal Diseases Neuralgia Polyneuropathies Hypotension, Orthostatic Amyloid Neuropathies Hypotension Heart Failure Digestive System Diseases
HPO:Abnormality of the gastrointestinal tract Congestive heart failure Hypotension Left ventricular dysfunction Motor polyneuropathy Orthostatic hypotension Polyneuropathy Right ventricular failure


Primary Outcomes

Description: Dry Blood Spot (DBS) samples will be genetically validated via combination of Next-Generation Sequencing (the mutation will be confirmed by Sanger sequencing) and the Multiplex ligation-dependent probe amplification (MLPA) of TTR gene

Measure: Epidemiological analysis of prevalence of the TTR FAP in participants with small fiber polyneuropathy of no obvious etiology.

Time: 3 years

Secondary Outcomes

Description: Samples carrying a mutation in the TTR gene will be biochemically analyzed via liquid chromatography multiple reaction monitoring MS and compared with a merged control cohort, in order to establish TTR mutation-specific biomarker/s.

Measure: Establishment of a biomarker in TTR-positive cohort

Time: 3 years

Time Perspective: Prospective

Cohort


There is one SNP

SNPs


1 V30M

It accounts several thousand cases worldwide, with Val30Met mutation identified in most patients and with endemic foci in Portugal, Sweden and Japan. --- Val30Met ---



HPO Nodes


HPO:
HP:0011024: Abnormality of the gastrointestinal tract
Genes 2032
SMC1A FUS WHCR COL13A1 CTC1 MYO5B SYNJ1 COL1A1 COL5A1 TCF4 PTS REPS1 RRM2B C12ORF65 CFC1 CHRND EFL1 SDHC SETD5 SMO OCRL FOXP3 PACS1 PMS2 PNKD RET PTPN3 SETBP1 KY FCGR2C GLUD2 ASXL1 USP9X RAD51C MAFB KIF7 RECQL4 MAP2K1 PTCH2 ERAP1 POLG TP53 TGFB3 TSPAN7 PIEZO1 CLMP NFIX NDUFA6 PRKCG CTRC CHAMP1 EIF2AK3 EFEMP2 GLI2 ACTA1 MAPT GP9 VAMP1 TNFSF12 PITX2 KIAA0556 SMG9 ND3 XRCC2 ACOX1 CDKN2B ACTA1 DNM1 SOX10 ATXN3 MLH1 ACTA1 POLG RPL10 VAMP1 ERLIN2 CHRND TIMM8A NHP2 OPTN NFKB1 F13B FBLN5 TRNS1 H19 MSH3 TEK MNX1 MLH3 CDK4 SDHC VPS13A SLC9A6 SSR4 ZIC2 ACVRL1 MFF ANKRD11 SQSTM1 APC USP9X DNMT3B TPM2 UPF3B PAK3 HLA-DPA1 CHCHD10 GATA6 SDHB MAPT GBA2 ARL13B GCH1 MSH2 SLC25A13 AKR1D1 TOP3A BAAT CHEK2 FOXF1 STAT1 CYP7B1 SEMA3D ASPA AMACR GP1BB APC CCDC22 SLC52A2 SPG7 CTNS SOX2 BRCA1 RERE ZBTB24 RFWD3 NDUFS2 ASXL1 COL7A1 JAK2 MPI HMBS AGTR2 UROD F12 DKC1 ITGB3 ND5 PEX3 ACADVL PRPS1 GPC3 AGRN FTL XRCC1 UBA5 ERCC2 CAV1 RPGRIP1L ADAT3 MYC DMD CEP57 LMAN1 NUS1 FGF20 SDHB ALDH18A1 JAK2 EXT2 NTHL1 MEGF10 ACOX2 CCR6 MTOR DEAF1 MYLK KBTBD13 MAPT PANK2 HDAC8 LEMD3 TRAPPC12 COG4 SPINK5 BRCA2 DDHD2 F13A1 GLI3 GFI1B GPC3 RARB PIEZO2 MAPK1 KIFBP NSUN2 PHKG2 NBN PLXND1 STAT3 FAT4 PEX1 EOGT PHGDH SYT1 MKKS CDC6 EDN3 TANGO2 RET SCN4A ZFP57 GDNF COL7A1 AKT1 MUTYH ARMC9 SDHB CYP27A1 GABRA2 TERT SALL4 APC OSGEP ALDH18A1 PAX3 ITGA2 USP7 SLC2A2 LPIN2 SMC3 RB1 TBCE VAMP1 CD3G GLRA1 H19 PSEN1 NDUFAF3 MECP2 WNK1 TWIST2 RBM10 SRCAP PIK3CA LMNB1 KIFBP SHROOM4 SLC46A1 CHRM3 TXN2 TBX4 UBE2T SETX COL7A1 TPM3 SLC9A3 FLAD1 SMAD4 F10 ZSWIM6 SH3KBP1 CD79B PIGO LMNA FREM1 SLC9A7 ABCB1 FBN2 FUZ ASCL1 JUP GREB1L FAH KIT RIPK4 GDNF GATA6 ALG13 MRPS34 TRAPPC11 ARF1 DHCR24 RFX5 KLHL40 HNF1A KEAP1 CHD7 SLC52A3 TERC RRM2B EDNRB MITF PIK3C2A STAT6 SH2B1 C19ORF12 FGFR1 ARNT2 HTRA2 SLC19A2 IRF1 SEC23B PYROXD1 PARN SETD5 MGMT RPL10 DLX4 GP9 TCF3 NRXN1 MYO9A MECP2 HLA-B NOTCH2 GRIP1 DACT1 BUB1B MC1R ARID2 BRAF GAS1 MBTPS2 SOX10 PLG PARN SRC TRAPPC11 GDNF TPM2 TRMT10C RFXANK CAV1 SLC25A24 BMPR1A CASP8 DHCR7 TSPYL1 HNF1A ST3GAL5 RNASEH1 GRM1 TRIP13 IL23R MTTP PMS1 RFXAP KCNA2 ACTA1 ATXN1 FLNA ADNP FANCA MSH6 TTBK2 RRM2B TMPRSS6 POU6F2 APC SON PIK3CA FANCM ATP6V1A RET ARHGAP31 RBM8A FBXO7 HELLS EPCAM MEN1 TERT UBA5 HESX1 FA2H TRIP13 ZAP70 UBR1 CDKL5 AKT1 APC MYF6 NXN TBK1 RASGRP1 PPP2R3C MYORG MRE11 TCF4 ND5 IL10RA LRP2 HLA-B GTF2I DLC1 IRF5 KCNJ11 SYNGAP1 BTNL2 SLX4 OPA1 CYBA TP63 RAD21 KLHL7 DKC1 ORC4 VANGL1 ARPC1B PPP2R5D TCOF1 PCSK1 SRCAP CTNNB1 PLG PTCHD1 VWF USP27X ATXN3 PGAP2 WDR26 FANCI PYCR1 LYST TP53 UPB1 MUTYH ANTXR2 MMP1 PDX1 TANGO2 ATXN8OS KIF5A FIG4 BMPR1A WWOX RPL10 ERLIN2 CIITA SI GPC3 TPM3 PEX16 FOXG1 CYP7B1 PALLD VAMP1 PLCG2 GATA6 OSGEP ZNF711 TRNE PARS2 TTC7A FLNA OTX2 FARSB DDHD2 VAPB ARL3 NONO MED12 HNF4A NUP107 MLH3 SPG11 TMEM231 FMR1 AHI1 CHN1 CBLIF MYOD1 SEMA3E RERE CCN2 KLHL40 LAGE3 WT1 SRP54 ABCC8 DYNC2H1 ATRX GPC4 ALS2 IGHM ATP1A3 PHOX2B FGF12 BCR SPINK1 SDHD DDX59 IL6 MAP3K7 GABRD CTBP1 NOTCH1 ATP8B1 LAMC2 ADH1C PEX12 MKS1 IRAK1 EDN3 HCFC1 SACS DAXX TBK1 MST1 SLC6A9 TGFBR2 EXOC6B TCTN1 TNFSF12 FTL DOK7 TCF4 ITGB4 APC TRIM28 DNAJC21 MED17 NECTIN1 NAB2 RECQL4 KRAS CLCN4 EDN3 FLNA MVK C12ORF65 PIK3R5 FAM13A SFTPC CDKN1C TYMP KRAS GDAP2 PALB2 MED12 TK2 TMEM67 TEK RYR1 NHP2 MCM6 FGF8 IL1RAPL1 TDGF1 SNRPB QDPR CDCA7 CACNA1A IGH RET CAMTA1 SOX10 PGAP3 F8 CACNA1G ATP6 TRNQ LONP1 SIN3A PAX4 COL7A1 FGFR2 VPS35 PAK1 CC2D2A MDM2 SNCA NEK1 PQBP1 WAS ATXN3 CHMP2B CFTR KDM6A TGFBR1 FANCE ICOS RFX6 IL12A LIG4 KIF23 PARK7 HLA-DRB1 MKS1 CACNA1G DMP1 COQ4 ADA2 SMC1A GMPPA MLH1 GFI1 RET RNF125 COX7B FANCD2 SOX2 ACTB DYNC2H1 NEK1 DDX59 PALB2 GLA IL1B DSP TERT FOXE1 MAP1B IQSEC2 WDR73 ABL1 STXBP1 RFWD3 DLG1 NEUROG3 ND1 ERLIN2 TGM6 FXN CDKN1B NEK9 TNFRSF13B FANCL FRAS1 SPG21 ND6 WDR73 HIVEP2 SKI UBTF EXT2 SLC5A7 STAG1 FLT1 COMT GBA ACTB ATXN8 WASHC5 NAA10 WAS AK2 TRMT5 TMTC3 SOX10 TGFBR2 L1CAM MYO1H POLG PIGY CARS2 DDOST CHEK2 COX1 LIPA SQSTM1 AHI1 REST BMPR1A ACTG2 SIX3 ND4 PCNA SDHD SEC23B ZNF423 OPLAH FKRP CHRNA1 CNKSR2 PRKRA FANCB HMBS PTPN22 RAI1 HYOU1 HPGD C1QA ELN SLC25A1 CYP27A1 RPS6KA3 USF3 CAV1 ARV1 BUB3 H19-ICR AP2S1 FUS CCN2 CCR1 MTMR14 MAD2L2 EMC1 TMEM237 MSX1 PSPH FOXP3 CD19 TRNV WASHC5 SLC18A3 KIT HMGA2 CLCN1 AARS1 CEP57 TREX1 WNT4 WIPF1 SLC25A13 PEX12 TERC CHMP1A TGFB1 HTT CDKN2A GJB2 MET F5 BUB1 CTLA4 CDKN2C GPC1 GLMN HNF1B HLA-B BRCA1 SF3B4 FLCN SLC6A3 TNFAIP3 JAK3 PRKCD CDKL5 SUFU ABCD4 NGLY1 SNCAIP ATXN7 IRF2BPL COLQ PIGT L1CAM ARHGEF6 PEX26 GLRB POLR1D TK2 SIN3A CARMIL2 PITX2 WFS1 CISD2 LRRC8A LIMK1 SNCA WNT2B IRF6 SERPING1 TBL2 TWNK PMPCA TGIF1 POLR3B WDR4 CDC45 ENPP1 DGAT1 TWIST1 MEIS2 CPLANE1 STRA6 YY1 FCGR2A FBXL4 AFF4 SCN4A KIAA0586 FKTN SOX2 GREM1 RTEL1 NEUROD2 MMP1 ALG3 TP53 SLC6A8 ARNT2 HIRA ARSA EXOSC9 REV3L CCBE1 APP ELANE SLC35A2 COL18A1 RAD21 GDI1 DGUOK KMT2D ATXN2 POLG EDN3 SEC63 CHD4 PIGO NBN FANCF PLA2G6 DACT1 TP63 PLVAP FAS SIX1 TP53 HLA-DPB1 MATR3 PTRH2 ELN GNA11 RLIM TMEM138 SLC35A2 PANK2 RFXANK IRF5 ITGB4 ALS2 POLR1C KCNJ11 SCN3A DPP9 DNMT3B PIK3CA NLRC4 ASCC1 PTDSS1 IGF2R MPZ HNRNPU BTK TRNL1 EPCAM NDUFA9 FLNA ERGIC1 ATRX PRKCSH F9 PIK3R1 COL3A1 CHST14 ALS2 GRIN2D ECE1 NDUFAF2 GUCY2C KLF6 IQSEC2 SAA1 SPG7 CEP120 ATRX NEXMIF GJB6 ATM TNXB RTEL1 IRX5 GDF2 PMS2 HBB PUS3 PIGV GP1BB SALL4 LETM1 PNP COMP TRIM28 DCTN1 RAD51C CDC73 IL21 MYMK PIGL PIK3CA CEP120 KLHL41 FH HNF4A BCOR SLC30A2 MYD88 ABCA3 JAG1 TMEM70 NPM1 IKZF1 SCN9A PHKA2 DICER1 GNAQ CDH11 NOD2 LRRK2 WNT3 DNAJB6 FLVCR1 ZEB2 B3GALT6 TNXB PABPN1 MLXIPL COL13A1 VAC14 NEB SIK1 GUCY1A1 AP1S1 TRIP4 FGFR2 ECM1 TGFBR2 ALDOB KCNQ1OT1 POGZ TBP ARX PACS1 CAVIN1 PPARG ELP1 BAZ1B FRG1 IL12B TPRKB CHRNG TGFBR2 SCN8A ABCC6 IDH1 CPLX1 BCL10 KRAS HPCA SPP1 CYBB PTEN PMP22 CCND1 NOP10 MSH2 MUC5B GPHN NEXMIF PDP1 JAK2 MMEL1 MBTPS2 SYT2 IGHM MPI EDNRB POGZ RAB39B SYT1 GRIN2D MSX1 SCN3A LBR SPIB NIPBL SYNJ1 CISD2 TET2 PTPRJ MECP2 MPL GTF2IRD1 CREBBP MSR1 GP1BA PRKAR1A MID2 CSPP1 MYOT ATP7A PORCN IDH2 MYO5B ADAMTS3 CXORF56 MLX GATA1 TCTN3 SMAD7 NUP133 MAP2K2 SKIV2L TWNK TTC37 GBA KCNB1 CACNA1A SIX6 SPART TP53 SCN4A DOCK6 RBPJ RNF43 HSD3B7 VPS33A CTRC TRNL1 TGFB1 ANTXR2 STN1 TP53 TINF2 LINGO1 PHOX2B CR2 C11ORF95 PIEZO2 ABCB11 DSE KRT8 ZMPSTE24 LMOD1 GBA TOP3A AGA RPS20 GLIS3 BMPR1A BMPR1A ALDH18A1 CHST14 TRNK TBX1 SLC19A3 PEX11B EPCAM B2M ND1 MAP2K2 GRHL2 ELP1 INS SLC6A5 HBB MEN1 HFE COX2 EYA1 KRT18 MID1 PAX3 HABP2 CORIN CD81 ATXN3 MYH11 LRRK2 TP63 NCF2 H19 SDHD SH2B1 TBC1D23 NBN COG8 ACTG2 EDNRB DCC SPINK5 TJP2 GJB1 HRAS FCSK WDR60 DNM2 LCT CBS SNAI2 ACTG2 LMX1B NDUFB8 COX7B LAMB3 ERBB2 ADCY6 CEP41 FGG MEFV NCAPG2 INPP5E PIGN CDKN1A CCBE1 TMEM216 ACSL4 HMGA2 DCLRE1C AP1S1 SMC3 KANSL1 FGFR1 FREM1 F5 FGA FBN1 SOX5 CENPF UBQLN2 POLG2 SEC24C TSC1 FLNA NUP62 C1R B3GLCT NF1 POMT1 BRCA2 POLG ADAMTS3 PIGN HLA-DRB1 SLCO2A1 FREM1 HCN1 MMP21 APC SDHB LMNA ACVRL1 LMOD3 DIS3L2 PIGA VARS1 COL5A2 RET KIAA0319L FGFR2 CCR6 BMP2 MKKS APC IL1RN MITF LTBP4 FGFR1 TERT PSAP ERCC4 DLEC1 TSPYL1 LRP2 CLMP ARX BRCA2 SZT2 SBDS BRCA1 VPS13A MSH6 HFE TREM2 POLR3A SLC1A4 NPC1 DISP1 PEX5 ERCC4 SLC25A13 FIG4 HPS1 LARGE1 MTTP ELN ITGA6 YWHAG PTEN DCTN4 FBLN5 PEX10 AR RIPK1 DNAJC6 CHRM3 AXIN2 SNAP25 MUSK RAD51 HGSNAT SALL4 NONO KIAA0586 SLC2A10 AFG3L2 RREB1 TWNK ASAH1 REEP1 RPGRIP1L TARDBP FANCC PGM3 SMO EBF3 GYS2 KLLN POMT2 STXBP1 G6PC F11 RAI1 ABCC2 HLA-DRB1 DLL1 EPHX1 WRN SBDS OTC GP1BB EFL1 COX4I2 NOP56 ATP13A2 CYFIP2 CDKN2B DIS3L2 RAD51C ABCC6 NRTN FRMPD4 POLA1 CYBC1 HYLS1 SP110 UBR1 CASP10 C1R PRTN3 MSH2 RECQL4 SALL4 IL2RB RAC2 ITGA6 ATP7B PNLIP PDGFRL CCND1 STUB1 AXIN2 XYLT1 HOXD13 ENG CHAT CD109 IRGM CEL ZNF81 SLCO1B3 SETX NEFH FRAS1 TRNF ACTL6B TRAK1 PTEN SMPD1 MITF SDHC CLTC PRDM16 ATXN10 FLI1 STK11 COLQ ITCH CNTNAP2 FOXG1 SKI DHODH PKHD1 CHAT SYT14 CC2D2A CTCF ADD3 GLI3 ATRX SCO2 BAP1 ND4 SLC29A3 CD3E RELA UCHL1 B4GALNT1 ARFGEF2 SFTPA2 LBR DDC SRP54 SRP54 SMAD3 EPRS1 AKR1D1 KITLG PEX16 WWOX RERE BACH2 UBB MSH3 TYROBP ABCC6 WNT7A BIN1 FANCL PEX14 ATRX WFS1 POLE DDOST PIGW MYCN DDIT3 PMS1 KCNK9 SERPING1 NSD2 MNX1 GABRB2 POU2AF1 F7 SERPING1 CLIP2 QDPR CACNA1A GFPT1 CAVIN1 RFXAP NRXN1 MUTYH ACD MEOX1 NDUFS3 GNAS GNS CHRNA1 ATXN8 ARX NDUFB11 DACT1 MATR3 POLG2 SHH TUBB4A FOXH1 ATP11A SNAI2 CRYAB TNFRSF13C CEP120 ATAD1 TBC1D24 PROKR2 MAP3K7 UBAC2 POLG NOTCH2 USB1 TSC2 TMEM67 EDN3 UBE3B HSD3B7 RMRP PRSS1 KCNQ1 SCN4A COQ2 HLA-B NGLY1 DNAJC13 NTNG1 BCOR NCF1 ROR2 ACD SLC6A8 ERMARD TGFB2 INTU LIFR ATN1 FGA PIGV ITGB2 B9D1 KRAS NFKBIA LRP12 RNASEH1 POLG PLEC APC ITGB4 USP9X PIGN SDHA XIAP PPP3CA SMAD4 COL7A1 GMPPA BRCA2 DLL4 MYPN DSP SDHB NUP214 RMRP SDHC DNAJB6 MGME1 SLC39A4 TRNW CHEK2 RPL11 EMC1 IL2RA SLC37A4 ATXN8OS STUB1 ARID1B KMT2A SAMD9 TRNH ATP1A3 ATXN7 AXIN2 RPS19 GPR35 TBX1 GDF6 ATP6 TFAP2A AP3B2 HCCS PRKCD NEB JAK2 IFNGR1 TBX3 RAPSN FLVCR1 SCARB2 SEMA3C FMR1 AKT1 CCDC47 TBX3 TCIRG1 KAT6A TIMM8A NEFH PTCH1 AP1B1 SERPINA1 FAN1 CDC73 IRF5 FAS FERMT1 CYP7B1 ADAM17 APC CTC1 PLEC NTRK2 VAC14 NPHP3 MDM2 CFTR MYH8 KCND3 XRCC4 SOX3 PLA2G4A BDNF KLF11 ADAR RPS6KA3 IGLL1 CRKL GABBR2 FREM2 VCP POLG ENG PRSS1 TBP NECAP1 PTCH1 SMC1A MACF1 TARDBP MEFV SPG7 DKK1 NCF4 RELA CTHRC1 ATP7A PLA2G6 PEX13 POLR3A CLCA4 JAK3 ABCB4 TNFSF15 CEP104 APPL1 ARHGAP29 PEX6 YARS2 BSCL2 AHCY RAD51D SOX10 SKI IL12A MCOLN1 WT1 FASLG RSPO2 FOXF1 STOX1 PHOX2B BUB1 SOD1 PLAA ENG SDHD CTNNB1 CNTNAP1 HSPA9 ORC1 COG7 THOC6 MYH7 POLR3A VPS13C TRNL1 SLC2A10 KCNA2 GPIHBP1 STS FGFR3 IL12A-AS1 CDH1 WFS1 MYH3 GPC4 SMAD4 RAD50 SUFU MKS1 IL10RB AMER1 GRHL3 HDAC8 RHBDF2 PEX2 BRAF NEB SETBP1 KMT2A ORC6 MASP2 SLC5A7 ASCL1 KRAS ZFYVE26 DCHS1 NEDD4L POLD1 DVL3 STN1 SLC52A3 PTEN SEMA4A UFD1 RARS1 PODXL SMAD4 LRBA FLNB B3GLCT FGFRL1 FGFR2 DNAJC21 ITGA2B FOS EDN3 SERPINH1 DGUOK BRCA2 NFKB2 SNCA NOP10 NDUFB11 JMJD1C FGB PALB2 FAT4 TTC7A ITGA2B C9ORF72 C2CD3 HPRT1 GABRA5 SLC18A3 RAD21 SLC25A22 REEP1 RTTN TK2 CDK4 NCF1 RAD51 EWSR1 AAAS GIGYF2 INHBA FARS2 PEX19 PORCN SEMA3E FGB ZIC3 NEB HYMAI TAF1 NPHP3 IRF6 LBR TNPO3 SLC25A4 CHRNE LRP5 DPYS SYT14 HOXB1 MLH1 SDHC LAMB2 WDR34 SLC52A2 SPECC1L LAMA3 FLCN TRAPPC12 KLHL41 TCF4 GDNF SPG21 STAT4 CTNNB1 STK11 CSPP1 EP300 FGFR2 FGG ASCC1 AMACR GMNN SYP ND2 CDH1 LAMA2 ATXN2 ADAMTS2 GBA FAT4 ZNF41 BLM CDKN2A TNFRSF1A MTM1 SNCA POLD1 ISL1 TPM3 FGFR3 MSH2 TUBB4A NUP88 SLC6A19 ABCC8 PITX2 AGGF1 NALCN PTS SALL4 CDH1 CDKN1B ATXN1 KIT FGFR2 LMNB1 UBTF TECPR2 PPP2R5D MECR TGFB1 PSAP BMPR1A CYBB FANCB STAC3 RNF43 AICDA TERF2IP NDUFS1 SLC6A3 ACTA2 CHRNE HLA-DRB1 ITGA8 MSH6 EIF4G1 WRAP53 PANK2 STXBP1 RFC2 PDGFRA KIT ATP2A2 CEP41 SPINT2 CFTR ZIC3 CCNQ IDS F2 ND6 NOTCH3 TUBB6 FOXC1 INPP5E PIEZO2 EP300 XYLT2 TRNW DLL4 NODAL DOCK8 PFN1 MBTPS2 PHOX2B PRPH ZFPM2 SPINK1 LIPA PAH KLRC4 ALS2 TMEM237 SLC30A10 MYOT POLE NECTIN1 PLAGL1 KCNAB2 PRKN CHD7 BRAF AGPAT2 ENPP1 POLG KIT PPM1D FGFR2 LAMB3 SHANK3 SLC37A4 SLC1A2 MCFD2 CEP290 KIF1A MAPT ALDH18A1 TAF1 SHPK SLCO1B1 DNM1L EP300 SPRTN WNT3 PIBF1 TCTN2 GNAO1 COL14A1 RHBDF2 DAB1 TWNK RETREG1 RYR1 CTNND1 CNTNAP1 HNRNPH2 WT1 NCF2 RAI1 AFF4 LIG4 SURF1 MAPT SELENON TRIP4 GDF3 ITGB3 SHANK3 BBS1 STAG1 ATP1A3 NPHP1 CD79A EFTUD2 CDH1 BRIP1 TWIST2 SLC5A1 IGF2 NIPBL PDGFRA PRKRA BLNK ALG8 PCGF2 MEN1 BRIP1 RNF6 DHCR7 BUB1B RET CNKSR2 POLR3B ACTA1 DYSF AFG3L2 SLC10A2 GCK NOTCH1 KCNK9 NCF4 SMAD4 STAT1 TTC37 TAF1 IL12RB1 CAMK2B C4A TNFRSF13B NR4A2 EDNRB POT1 INPP5E MINPP1 PTPN22 TRNK ATP7A CIITA CLCN4 MAGEL2 STX1A EHMT1 BARD1 IGF2 LIPA MYO9A EEF1A2 FLII TMEM237 PKD1 NOP56 SKIV2L PRNP SFTPA1 CXCR4 SAR1B RTEL1 POLG SLC46A1 CACNA1B DLG3 CD55 TPM3 GBE1 CCDC28B TJP2 TLR4 PLP1 PIK3CA NPC2 FANCB COG4 SDHB CCND1 IL10 ITGB3 EDNRB NALCN NOTCH3 SAR1B F5 PTEN GEMIN4 CASP10 EXTL3 MCEE MAPT STAT4 NPHS1 PLEC ARVCF FTSJ1 RAD51 GBA COX3 ZAP70 AAAS PDGFRB PLAA NUP62 CCNQ PHOX2B TYMP COL5A1 PTF1A IARS2 SEC23A COG6 PIK3CA SLC7A7 CYBA LAMC2 HFE RFX5 MS4A1 PUF60 DHDDS DMPK AIRE TRNS2 HRAS HDAC4 FANCG WDR35 KLHL7 AXIN1 EDNRB FLCN BLK NRAS SLC9A6 RRM2B IFT80 AAGAB GABRG2 ATXN8OS FAH BMP4 ITGA2B CDH11 NEUROD1 PINK1 MLH1 FANCB PSTPIP1 SLC13A5 KLHL41 GP1BB KAT6B MYRF SLC52A3 STX3 DCHS1 TTC7A ECE1 HCCS MECP2 APC PRSS2 PLOD1 SALL1 KAT6B GP1BA PANK2 LAMA3 FAS PDE8B SALL1 TP53RK TBCD FREM1 CDON MECP2 GP1BA CHCHD10 CD96 KCNC3 SNAI2 MED12 VANGL1 CDKN2A
Protein Mutations 1
C10D
HP:0001635: Congestive heart failure
Genes 260
TRNF TF JUP TPM1 EPG5 EPAS1 DNAJC19 PHYH LMNA ND5 TCF4 ATXN7 TRNS2 VCL EYA4 TAZ NDUFAF1 ABCC6 BSCL2 NDUFAF3 MYH7 TTN SCN5A VPS33A SLC25A3 TRNL1 AGPAT2 TNNI3 COX3 MYH7 LIMK1 PRKAG2 SCO2 TBL2 MYSM1 ENG TRNS1 TNNI3K DMD KIF1B DES COG7 GBA JUP BAG3 MST1 TRNF TRNL1 PSMB8 SLC2A10 TMEM43 VHL HADHA SCN1B CDH23 MYH7 PPA2 MDH2 PTEN MYLK2 SGCD CLIC2 LDB3 IKBKG CLIC2 ACAD9 PRKAR1A TMEM70 TRNW HBA1 ND1 DES CYTB SDHB NSMCE2 HBB CAV3 TPI1 HFE COX2 CASR PEX7 AFF4 MECP2 CEP19 SURF1 EFEMP2 TRIP4 SF3B1 SDHC CLIP2 TNNT2 HNRNPA2B1 NDUFB11 FOS ADCY5 EYA4 CP TMEM127 ATP5F1A CACNA1S ELAC2 ND1 TRNQ ACTC1 SLC25A26 HAMP DLST NDUFB8 ADCY5 SMAD4 TRPM4 STAT1 TMEM127 DSP CAV1 SDHD HADHA TRNK FBLN5 TRNS1 FGD1 ALMS1 COX2 ENPP1 HNRNPA1 TUBB RAB3GAP2 TRNK MYL3 FLNA HLA-DRB1 RASA1 ADAMTSL2 GLA RET VHL SELENON SDHB PRKAR1A SLC25A11 CYTB TRNV LMNA LMNA SDHAF2 ACVRL1 GLA GNPTAB PSEN1 BMP2 TRNL1 GDF2 ALMS1 FBN1 DSP HADHB STRADA PNPLA2 SNAP29 PSMB8 GTF2I SDHD TRNW COX3 GJA1 MYH6 BCHE LMNA MYD88 NDUFS2 TRNH ATP6V1A COX1 FH DTNA HBA2 GATAD1 PSEN2 FGFR3 HFE LMNA GLB1 RPS19 FXN GPR35 AGGF1 ND5 SDHD ND4 KCNJ5 TRNQ TRNS2 CAV1 HADHB TRIM37 ELN TET2 KIF1B RBM20 COL1A2 LMNA COX1 RYR1 CAVIN1 CCR6 SCN4A PPARG FLNC BAZ1B CCN2 MYH7 HJV MAX LMNA VHL IRF5 ABCC6 SLC22A5 RET MYPN MYH7 PPARG WRN PLN COL1A1 TRNE MAPRE2 GTPBP3 ACAD9 VCP SLC17A5 SDHB RFC2 GTPBP3 SLC19A2 PLOD1 RET SDHA TTN ND6 DSP LMNA MAX IDS FGF23 ND6 GDNF PRDM16 IFIH1 NKX2-5 XYLT1 XYLT2 ENG GTF2IRD1 GNPTAB TRNC TRNK PRKAR1A GNA11
SNP 0