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Report for Clinical Trial NCT02833194

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Assessment of the Prevalence of Major Psychiatric Disorders in a Cohort of Women With Clinical Criteria Corresponding to Pure, Abortive-form, Obstetrical, Antiphospholipid Syndrome

The primary objective of this study was to evaluate and compare the prevalence of the following psychiatric pathologies (based on the MINI5.0.0 questionnaire) among 3 groups of women (Leiden versus aP1Ab-positive versus thrombophilia-negative) with similar obstetrical histories 10 years after their initial assessment/diagnosis. - Mood disorders, including depressive episodes during the previous two weeks, recurrent depressive disorders at any point in life, dysthymia in the last two years, or any current or past manic episode; - Anxiety disorders, including current agoraphobia, current panic disorders, agoraphobia with panic disorders, current social phobia, generalized anxiety in the last 6 months, or current posttraumatic stress syndrome; - Apparent psychotic syndromes, including isolated or recurrent psychotic syndromes, past or present (clinically validated), - Current alcohol or drug problems (dependence or abuse).

NCT02833194 Antiphospholipid Syndrome Factor V Leiden Thrombophilia
MeSH:Thrombophilia Antiphospholipid Syndrome Syndrome Mental Disorders Problem Behavior
HPO:Behavioral abnormality Hypercoagulability


Primary Outcomes

Measure: Mini Internationl Neuropsychiatric Interview 5.0.0

Time: 10 years

Time Perspective: Prospective

Cohort


There is one SNP

SNPs


1 V617F

Exclusion Criteria: - Any history of thrombotic events or any treatment given during previous pregnancies that might have modified the natural course of the condition - Women whose pregnancy losses could be explained by infectious, metabolic, anatomic or hormonal facotrs, or associated with paternal or maternal chromosomal causes - Seropositivity for HIV, hepatitis B or C - Women with antithrombin, protein C, or protein S deficiency, and women with abnormal fibrinogen or with the JAK2 V617F mutation were further excluded. --- V617F ---



HPO Nodes


HPO:
HP:0000708: Behavioral abnormality
Genes 2208
SMC1A FUS ABCA12 NAA10 SLC18A2 AP1S2 SYNJ1 DNAJC6 UBE3A ST3GAL5 C9ORF72 TCF4 PTS NAA10 RRM2B OTUD6B NFIX C12ORF65 PAH IFT172 EDN1 PIGC HNF1B ZC3H14 SETD5 PSMD12 PROM1 C8ORF37 GRN TUBB3 OCRL PACS1 PRNP SMARCC2 GLUD2 KCNJ2 PEX10 GCDH HADHA CTNNB1 USP9X CNKSR2 B3GALNT2 RPIA ERAP1 MAPT CLTCL1 POLG PRPH2 NDST1 TRNN CSF1R GRIN2A SUFU TSPAN7 PRPF4 DEAF1 TUB NFIX MED13L SCN1A PRMT7 MYO7A PIGG NDUFA6 NDUFS1 NDST1 PRKCG GABRD CRY1 POMK SIM1 MAPT BSCL2 PRPF6 GUCA1A KPTN CNGA1 NDUFS3 SMG9 GNE SLC3A1 LARP7 ARHGEF18 PC ACOX1 FGFR3 PRPF3 PRNP CST6 SRPX2 DNM1 CPLX1 ADAM9 LARP7 MLH1 CLP1 POLG RPL10 FTSJ1 FIG4 TIMM8A GNAT2 FCGR2B KDM6B P2RY11 ACSF3 TRNS1 RPGRIP1 GRIN1 SDHC VPS13A HERC1 CHMP2B SLC9A6 LEPR IGF1 THOC2 ANKRD11 SQSTM1 GNAS GAMT CIB2 EFHC1 LRPPRC MECP2 HSD17B10 EZH2 UPF3B MRPS22 PAK3 WARS2 SCN11A POLH MAPT SNORD115-1 AP4E1 GCH1 PSEN1 PRRT2 TMEM240 PRPS1 ECHS1 C9ORF72 GABRD CHI3L1 MAPT POMT1 CHRNA2 VRK1 ADAT3 CWC27 BCKDK MVK CLN8 C8ORF37 ASPA SCN9A SLC52A2 SPG7 CTNS PDGFRB AP2M1 RERE GATA4 STXBP1 HCN1 SMPD1 HMBS AGTR2 TBX1 SLC6A1 NUMA1 ND5 TAF15 PRPS1 SDHA XPC AGRN PRPH2 ATAD3A ARL6 FTL UBA5 ERCC2 ABCA4 ADAT3 MAGEL2 DMD STAT5B HK1 CEP57 TULP1 SUCLA2 NUS1 SDHB KMT2A TMEM106B EXT2 SRY UROC1 MTOR COL1A2 COX7B HCN1 DEAF1 AP1B1 PROP1 NSDHL GUCA1A MAPT PANK2 HDAC8 COG4 KCTD17 NDUFS7 HNRNPA2B1 CLRN1 VCP GLI3 KCNJ5 NABP1 TKT ESR1 PIEZO2 MAPK1 UQCC2 NSUN2 GNB3 PER3 PROK2 SPR PLXND1 FAT4 GRN PHGDH SYT1 IGF1 HLCS ADH1B ATP13A2 ARL3 NDUFA10 SOD1 IRF6 CYP27A1 GABRA2 DCAF17 KCNA1 PRDM8 SLC26A4 NDUFS1 SLC18A2 USP7 PRODH ND2 SMC3 SDHC VAMP1 TBX1 PLCB4 HLA-DQB1 PCDH19 TRIO GLRA1 PDE4D DHTKD1 CDHR1 PSEN1 MECP2 DNMT1 FUS LMNB1 SHROOM4 SLC46A1 PSAP LHX1 TBX4 APP GK KIF11 RNASEH2B ARL2BP NDUFA9 SLC6A19 GSS ZBTB20 GABRB3 RPS23 ZSWIM6 MFN2 SH3KBP1 CHD2 SCN2A MAPT TBR1 EPG5 NKX2-5 ITPR3 ZNF365 SLC9A7 FUZ ASCL1 IKBKG FANCE ALG13 CSF1R ARSA NPHP1 FAM161A CDH23 SLC6A17 PLCB4 UBE2A SNCB NDE1 ACY1 PPOX GNAS DEPDC5 GUCY2D RBM12 FOXRED1 DNA2 SH2B1 C19ORF12 CHMP2B TOR1A SNCA ARCN1 TBC1D24 PDE10A ACADL NOD2 SDHC NDUFV1 HTRA2 SEC23B SETD5 RPL10 SIK1 NRXN1 KIAA1549 MECP2 GFM1 CFAP410 AARS2 ASXL3 HLA-B MYO7A ARID2 ADAR HTT TBC1D24 MBTPS2 GTF2E2 GNAI3 HECW2 ZNF365 AP4S1 BMPR1A DHCR7 ADA2 SLC25A19 NKX2-5 RLBP1 RPGR ST3GAL5 GLUD1 SQSTM1 ADGRV1 TTI2 CILK1 IL23R PMS1 SLC25A20 KMT5B KCNA2 NEK2 FOXC2 SLC1A2 RPS6KA3 ATXN1 CERKL GPR101 NDUFS8 COQ2 ND1 ADNP MSH6 NDUFA13 RRM2B PGAP3 PGAP1 BRAF GTF2H5 SON PIK3CA TTLL5 ATP6V1A MOG KCNJ11 VHL GPR143 EIF2B3 SDHAF1 AIMP1 CTLA4 FBXO7 EPCAM NDN KCNQ3 UBA5 ABCD1 HESX1 HPRT1 FA2H COASY PEX13 ELOVL5 MPLKIP MBD5 HARS1 UNC119 CDKL5 AKT1 CLN6 TBK1 ATP1A1 PRPF31 MYORG COMT CEP152 PDHA1 ALG1 MC1R TCF4 NDUFB11 TNFRSF11A PCNT OTUD6B HLA-B GTF2I KCNT1 PCDH19 PEX1 EPM2A RTN4IP1 TMEM237 UPF3B PTPN22 SYNGAP1 PRPH2 PPP2R2B TREX1 CLRN1 FGFR1 OPA1 CPOX MFSD8 NLGN3 PSEN1 PPP2R5D CRBN ALG12 LHCGR FGFR3 TMEM231 PTCHD1 USP27X ATXN3 PGAP2 WDR26 GJB1 LYST TRIO RPE65 AVP TANGO2 CHCHD10 DHX30 AHSG LYST ATXN8OS SPATA7 HCRT ADGRV1 WWOX AHR GATAD2B GABRG2 ERLIN2 KPTN CACNA1C ATP6 PDGFRB ZNF711 GNAS PARS2 OTX2 MED12 NONO MED12 SCN2A GRIN1 ARX DCAF17 BPTF GRIN2B MLH3 TMEM231 STX1B ABCA7 FMR1 HTR2A TRPV4 CACNA2D2 MYOD1 ABAT SEMA3E SCN1A SPRY4 RERE PRKAR1B MTHFR MTHFR ARSG PTCHD1 GUCY2D HGSNAT ATRX HLA-DRB1 HLA-A HTT ALS2 KRT86 TRIP12 ATP1A3 RPGR DRD2 PDGFB SLC2A1 FGF12 STXBP1 ACTB BCR NOTCH3 CACNA2D4 SDHD BEST1 ABCC8 FSCN2 GABRD LINS1 CRX ERCC6 PRODH CRB1 NKX2-1 ADH1C FMR1 ESS2 DPF2 IDUA IRAK1 HCFC1 CTSH SACS PDE4D TBK1 MST1 CA4 MSTO1 ATP2A2 ATF6 RAC1 HSD17B10 SQSTM1 PEX19 FTL VCP CIC PDE4D SARDH NAGA DOK7 TCF4 MFRP MCCC1 SCN1B UNC93B1 TAC3 TWIST1 SMARCB1 PDGFRB CLCN4 HTR2A TP63 ITM2B JPH3 MEF2C PSEN2 SAG GDAP2 GNAO1 CEP78 EBP MED12 TK2 PNKP FUS PHIP IL1RAPL1 MERTK HNRNPA2B1 CACNA1A CAMTA1 PGK1 PRNP IQSEC2 PGAP3 SIL1 CTNS NR3C1 RSPRY1 CACNA1G TRNQ NDP TP63 SIN3A VPS53 PRRT2 VPS35 TRIM8 DPYD CC2D2A CHRNA7 SNCA AP3B2 VLDLR PQBP1 ATXN3 SDHD ATP6AP2 IL12A NTRK1 PARK7 CACNA1G AMACR SLC25A20 ITGB6 FGD1 ALMS1 LAMB1 TSC1 NDUFS2 NTRK2 PRPH2 MCOLN1 PRRT2 HDAC8 ADA2 SMC1A FBXO31 DHDDS RET RNF125 SUCLA2 TFAP2B ATXN2 TSHR GLA FGFR2 ARMC5 ERCC2 SLC25A11 C9ORF72 IQSEC2 WDR73 PTPN22 GUCA1B CACNA1A STXBP1 CNGA3 ASAH1 PPOX GRIA3 NAXD KCNJ10 NACC1 DLG3 SPG21 PDE6C GBA HIVEP2 SKI UBTF EXT2 FLT1 COMT GBA ATXN8 MTFMT NAA10 ROM1 KISS1 TGFBR2 CDC42 PIGY CARS2 COX1 SQSTM1 DEAF1 CIZ1 DHPS SEPSECS MEF2C ZBTB16 KIAA1109 SMARCA2 FGD1 ND4 PCNA PTEN TREX1 TSHB NMNAT1 ZNF423 MED25 XPA FKRP CNKSR2 PCNA HMBS RAI1 GJB6 CNGB3 C1QA ELN CBS SLC25A1 AIPL1 CYP27A1 USF3 COX15 XPC NAT8L ARV1 NDUFA11 AP2S1 RAI1 DHX38 PET100 SPRED1 CCR1 EMC1 ERCC2 PRPH DPP6 RLBP1 SLC18A3 GCLC JRK AARS1 BMP4 SETD2 COMT CYP27B1 HTT NDUFV1 BCS1L GJB2 OPN1MW RARA C9ORF72 ALDH18A1 TOR1A DNMT1 HLA-DQB1 CPT1A SLC25A22 PPT1 HNF1B IFT88 KCNJ13 SLC6A3 GLT8D1 ADH1C SDHD GLE1 GJA8 EPAS1 SLC2A1 DRAM2 NLRP3 TRNS2 CDH15 HEXA KDM6A NDUFAF4 RDH12 NGLY1 SNCAIP ATXN7 RTN4R IDH3A PIGT NPM1 ARHGEF6 TMEM106B BCKDHB GLRB CLN8 INSR SIN3A SLC12A3 WFS1 CISD2 GRN TREM2 ST3GAL3 CHST6 USH1G IL6 LIMK1 SNCA ZFYVE26 SYN1 FIP1L1 TBL2 CHMP2B ENTPD1 CLDN16 LSS CPOX NADK2 TWNK PMPCA MSX1 TBL1XR1 TSHR PRNP INPP5E XPR1 KIZ RGS9 ATPAF2 MDH2 PRPF8 MEIS2 MMADHC YY1 USH2A XPA ALG11 SETBP1 ST14 SNCA ATXN10 FKTN KNL1 SLC20A2 SOX2 NEUROD2 PRNP ALG3 NDUFAF2 ATP7B SLC6A8 TMCO1 GUCY2D TMEM240 ARNT2 HIRA GNE ACSL4 SLC25A19 ARSA REV3L CEP250 SNX14 FGF8 APP GLE1 RAD21 GDI1 NDUFAF3 TREM2 DGUOK HARS1 POLG UNC13A GPT2 TMEM106B TRAPPC9 GABRA1 PIGO ERCC3 OPN1MW ANTXR1 RAB11B OPN1MW POC1B NBN PLA2G6 EIF2B2 AHDC1 MED23 SCN1B WDR45 PCCB GJA5 HCRT SGCE SLC45A1 DLST AUTS2 GRIN2A MC4R CCNF RLIM MECP2 TMEM138 TMLHE PANK2 AMER1 DUSP6 IRF5 NDUFAF5 FGFR1 MECP2 TP63 VCP SLC45A2 GABBR2 RAI1 TBX2 NSMF NDUFS4 PER2 CACNA1H TBC1D7 PAH CFAP410 COL3A1 HAX1 RHO ALS2 KRT81 KCNQ2 PIGP SDHB GRIN2D ECE1 LINS1 SLC7A7 FGFR1 CDH23 HAL TK2 GJB2 IQSEC2 SLC45A1 ATRX NEXMIF GJB6 TREM2 TLK2 ALMS1 PMS2 HBB PUS3 PIGV EIF2B1 TSC2 AIP CACNA1A CASR BCORL1 NLGN4X PNP SLC6A17 NDUFS4 CHD1 NPHP4 AFF2 DCTN1 CDC73 WHRN PIGL LHX4 CYP11B2 TGFBI GABRG2 NAA15 TCN2 P4HTM ARG1 HNF4A BCOR TMEM70 NDUFA13 LTBP3 IKZF1 TTC8 MRE11 GNAQ NRL CFAP43 LRRK2 SLITRK1 NDUFA2 CLIP1 ALDH5A1 DNAJC12 RGS9BP ARSA ZEB2 NAGLU PON3 MLXIPL SPAST COL13A1 VAC14 GJB2 PWAR1 GATM RAX2 ATCAY ANK3 POGZ TBP ARX PACS1 TACSTD2 ELP1 BAZ1B CACNA1F MAX PEX1 NDUFV2 SCN8A SETBP1 KDM5C SLC22A5 TUSC3 NDUFS8 PARK7 ACTG1 SPP1 DYM SORL1 PMP22 SDHB MSH2 GPHN NEXMIF MMEL1 RET SDHA ALG11 SYT2 SCN1A IFT140 POGZ RAB39B CHD2 FOXP1 SYT1 SCN3A DBT SPIB NF2 NIPBL CISD2 SMAD4 WDR11 NDUFA1 PCDH15 GTF2IRD1 CREBBP FBLN1 IFIH1 CLTC SH2B1 CRX NDUFS7 MID2 DLAT EPG5 SARS1 PYCR2 RP1 CLDN10 FMN2 ERCC4 ENTPD1 CXORF56 KYNU CSNK1D HLCS SLC12A6 GPR101 APOL2 TWNK GBA MITF KCNT1 KCNB1 CACNA1A SPART NDUFAF3 PDE6H CNTNAP2 KIF14 ATF6 VPS33A TRNL1 APOE LINGO1 CRBN PIKFYVE ALG6 GM2A PPARGC1A PPP2CA CABP4 GBA DISC2 ALKBH8 TACO1 AGA RPS20 DPH1 DYNC1I2 RUNX2 CUL4B ANK3 TRNL2 DCPS PDE10A C9ORF72 TBX1 NR2F1 SLC19A3 ABCA4 B4GALNT1 SCN2A ND1 DOCK6 RHO MAPK8IP3 SAMHD1 PRPH2 ELP1 SETD2 SLC6A5 KMT2E MEN1 HS6ST1 AIP CLCNKB NFASC COX2 AP3D1 AASS ITPA GCH1 UBQLN2 CORIN USH2A SASS6 ATXN3 BCKDHA LRRK2 VEGFC PAK3 SARS1 FBP1 CNNM4 MATR3 C12ORF4 SLC6A4 CHD8 SH2B1 SNRPN TBC1D23 TSHR PLCD1 HLA-DQB1 AIFM1 SPART NPHP4 NKX2-1 SLC7A14 CKAP2L BCL11B CC2D1A CBS ATP5F1A CDHR1 UBE2A LMX1B FIG4 COX7B NSD1 ACADS TBR1 IPW TSHR MEFV FRMPD4 DGCR2 HDC CRX TMEM216 ACSL4 DNMT1 WASHC4 DDX3X KANSL1 FGFR1 STAT3 CYP2R1 SOX5 KRT12 POLG2 SCAPER SEC24C HNRNPA1 AFF2 ALG13 C1R HPSE2 TNFSF4 LTBP2 POMT1 POLG TYROBP TRRAP HCN1 BMP2 TMEM67 PDE6C AVPR2 CACNB4 SDHA SDHB SDHB POMC ZC4H2 TACR3 WDR4 SUOX ATP13A2 ACAT1 ZDHHC9 PNPLA6 NDUFA12 TBCK SYN2 MED25 NDUFV2 BCOR TIMM50 EDNRA MTRR CRADD TSPYL1 NTRK1 SZT2 CDKL5 ATP13A2 VPS13A SDHD TREM2 PDZD7 AFG3L2 TREM2 POLR3A SLC1A4 GNB5 NPC1 MAN1B1 PDE6G SLC25A13 APP DRD5 DNASE1 LARGE1 ELN YWHAG PTEN DCTN1 AVPR2 FGFR3 NDUFAF6 PROM1 TREX1 PIGP PSMD12 SEMA4A NPHP1 DNAJC6 FMO3 HNF1A SNAP25 MUSK ALAD HGSNAT FGF17 TELO2 PEX26 NONO FGF14 CAMTA1 CASK REEP6 DGCR6 RREB1 TWNK SLC2A1 SMARCA2 SLC19A3 GPC4 PSAT1 TARDBP GNAT2 CC2D1A GYS2 SLC33A1 KLLN POMT2 FGF14 STXBP1 GABRG2 DDX3X RAI1 POLH SCN8A HLA-DRB1 SERAC1 TECR LMAN2L AQP2 TICAM1 MAPT GP1BB PSEN1 ATP13A2 CYFIP2 GATAD2B NDUFAF1 PCDH19 MC4R COG5 FRMPD4 TWNK POLA1 AUTS2 AHDC1 PFN1 SHANK3 FOXE3 TYR GNRHR PIGL ATP7B AP1S2 GNRH1 USP8 NFIB GRN CHAT C8ORF37 ZNF81 RSRC1 DGCR8 GABBR2 CXORF56 NEFH DPAGT1 OFD1 TRNF MKRN3-AS1 RBBP8 ACTL6B SLC19A3 APOL4 NEK1 LAS1L NDUFA6 TRAK1 SMPD1 CHD7 CLTC PRDM16 ATXN10 FLI1 COLQ GABRA1 PEX6 ALDH5A1 CNTNAP2 SLC35A3 FOXG1 TSEN54 SKI COASY SLITRK1 FGFR3 HTR2A RIMS1 IL1RAPL1 GPT2 HFE PRKAR1A CTCF CD96 CACNA2D4 ATRX PEX2 USP8 NR2E3 KIF1B HLA-DRB1 UCHL1 PML SCN8A VHL AQP2 POMC DYRK1A PPP2R2B CLCN2 DDC SLC39A4 TARDBP HESX1 RERE NDUFS4 ERF RPGR TYROBP GLS TDP2 EIF2S3 GSN SDHA LEPR WFS1 PIGW CASR MECP2 GLRX5 NDUFS6 COG6 GABRB2 POU2AF1 SMARCB1 RNF13 PSAT1 KLF13 SCN2A CLIP2 MED12 QDPR HSD11B2 PLA2G6 GRIK2 NRXN1 CP VCP FTL PRPH2 GNS GNAI3 RORB GRIA3 TIMMDC1 TMEM127 ATAD1 TBC1D24 PROKR2 CNGA3 UBAC2 SGSH MED13L PNP NFIX MBTPS2 IDUA PLEC MBD5 ST3GAL5 RBPJ NAGS KISS1R NKX2-1 CNNM4 PCSK1 AP1S2 HOXA2 GPR143 NHS COQ2 KDM5B FOXE1 SLC2A1 NGLY1 DNAJC13 ATRX AGTPBP1 TYR MTPAP HTT TOMM40 GABRA2 SLC6A8 LMBRD1 BCOR KCNQ3 TARS1 ATN1 RET PIGV GNAT2 USP27X CHRNA7 CNGB3 DPYD KRAS ANOS1 SDHAF2 GBA TRAF3 POLG GRIN2A DUOX2 HLA-DQB1 GNAS EGF NACC1 RNF216 NALCN PREPL DOCK7 USP9X PPP3CA ARG1 NHLRC2 PDGFB OPN1LW PRKAR1A GBE1 POU1F1 CNGA3 AP4E1 KCNJ1 TRNE SLC39A4 CRYGC TRNW LRAT DNA2 PRKAR1A BCS1L TYR OVOL2 ARFGEF2 STUB1 ARID1B APC2 KMT2A NEFH PACS2 TRNH KMT2C ATP1A3 DAO PINK1 NFU1 PDE6A DDX11 NLRC4 CTSF RAB28 GPR35 TBX1 AP3B2 TYR HCCS KCNJ5 HESX1 RAPSN TTC8 NUBPL SNRPN SH3BP2 MCCC2 FMR1 CCDC47 OPN1LW KCTD17 ITM2B TBC1D24 TIMM8A NFIX AHI1 MAN1B1 RPGRIP1 HIBCH NPAP1 FRRS1L TUBB2B FAN1 CDC73 FAS POLA1 HNRNPA1 TBK1 AIRE RNF168 RPGR CERT1 LIPT1 PON2 NTRK2 LRMDA ELP2 PEX16 MANBA RUSC2 SOX3 GRIN2A TNIK SCN1A SLC25A1 PITPNM3 RPS6KA3 CRKL SURF1 VCP USH1C SCN8A POLG ARSA UBE3A WDR62 TBP NECAP1 CHMP2B TSC1 AGPAT2 TARDBP PEX5 DKK1 PDE11A SOX5 IYD ATP7A PLA2G6 TLR3 IMPA1 XK TNFSF15 CYP27B1 COL17A1 LAS1L OPTN SPG11 DDB2 AVPR2 JPH3 MAK ASH1L AHCY MAPK10 YWHAG APP IL12A MCOLN1 PWRN1 STOX1 KCNV2 GFM2 FLT4 BBS2 L2HGDH SOD1 IGF1R FMR1 PRKACA BSCL2 UCP2 RP9 POLR3A VPS13C KCNA2 STS CPS1 IL12A-AS1 WFS1 SURF1 GUCA1A EIF2B4 HDAC8 GNAS TTC19 POLA1 NLGN3 SRPX2 WNT10A MTPAP KMT2A NSD1 NEUROD2 SLC5A7 ZFYVE26 DNMT3A PITPNM3 SEMA4A UFD1 RARS1 EPM2A C9ORF72 PAX8 RNF135 PODXL RNASEH2A SATB2 C19ORF12 FGFR1 LHX3 TG CFAP43 CSNK2A1 HMGCL IDH3B WDR26 SNCA NDUFB11 JMJD1C MEIS2 RSPRY1 IFNG CHST6 MAN1B1 FCGR2A RPE65 ND3 C9ORF72 THRB SNORD116-1 CTCF HPRT1 GABRA5 SLC18A3 STAG2 ATF6 ZDHHC9 NSD1 NDUFS2 RTTN NUS1 DSG4 CHMP2B GIGYF2 CAT CHD2 CTNNB1 SETD5 PAX8 ATP13A2 PIGL ALDH3A2 IBA57 MAP11 FARS2 PRCD PIGQ PCARE BCAP31 COL1A1 FBP1 CACNA1F TNPO3 SLC25A4 MYT1L SLC2A3 ZNF513 TIMM50 DPYS COL1A1 SYT14 OCRL IDUA GJC2 ZMYND11 LAMB2 SLC52A2 ADNP LEP GABRG2 CUX2 METTL23 PUS7 IRF2BP2 TCF4 SPG21 STAT4 VCP C2CD3 DRAM2 SPATA5 TRNL1 NDUFAF4 EP300 MOG AUH SYP RPS6KA3 RAC1 HCN1 SLC1A3 PRPS1 STRADA ALDH3A2 DLD ATXN2 ADAMTS2 ASPA PDE6B RNF113A HMGCL KDM5C ZNF41 UNC80 SLC24A5 TNFRSF1A STS DNM1 CLP1 KIF15 PCCA SNCA VCP OPHN1 FGFR3 NDP OTC NUP88 DAOA SLC6A19 ABCC8 RGR NKX2-1 PEX14 WARS2 PTS IREB2 LRIG2 HLA-DRB1 NHS NSUN2 ASL ALPL PON1 ERCC5 ECM1 RSRC1 WAC PSAP CUL4B COX10 FRA16E JRK EYS SIGMAR1 PDHA1 PDGFB CYP11B1 SPECC1L NDUFS1 NDUFAF2 GCSH CTNS CACNA1D MBOAT7 NDUFB9 FOXRED1 NECTIN1 PDE6C EIF4G1 RP2 HERC2 HNF1A TREM2 PSEN1 RFC2 HNF4A ERCC3 PDE10A PRDM8 SGCE PUF60 PSEN1 KRAS IDS ND6 NOTCH3 ZBTB11 CNGB3 EZR GLDC WFS1 EP300 PEX3 COX15 NLGN4X HCRT CUX2 VDR GNA11 RAX2 ANG PSEN2 MBTPS2 TH PHOX2B PRPH MICOS13 KRT83 PRF1 NAGA LRAT PMM2 OCA2 FOXC2 KLRC4 ALS2 AIFM1 ZFPM2 PDCD1 GM2A POMGNT1 RPGRIP1 KCNAB2 PRKN CHD7 RDH11 TAT MAB21L1 PIGY PPM1D SHANK3 ARF1 SLC1A2 IMPG2 TBP CEP290 MAPT RBP3 PROKR2 TM4SF20 MPLKIP AP4M1 TAF1 ARMC5 TOPORS DNM1L PCYT1A STX16 NDUFS3 HPS6 HERC2 EEF1A2 GNAO1 TKT NLRP3 TGFBI TWNK DNM1 PRODH SLC5A2 IFIH1 HNRNPH2 ESPN TP53 RAI1 AFF4 GABRA1 FOXP1 IQSEC2 LIG4 MAPT SOBP SHANK3 ZNF408 SLC35C1 STAG1 ATP1A3 PSAP GRIA4 SIM1 TBK1 MAPT DCTN1 CACNA1A ALDH18A1 NIPBL NR2E3 ST3GAL3 PCGF2 TMEM126B LIAS TPO APP KLHL7 DHCR7 SEMA4A CNKSR2 CNGB1 NSDHL POLR3B VAPB ERCC2 DEAF1 PIGH HSPG2 DBH ADCY5 ABCA7 EHMT1 AGBL5 TAF1 SLC1A4 IL12RB1 CFAP410 CEP78 GABRB3 C4A NR4A2 ALS2 RDH5 SYNGAP1 PTPN22 CA4 TRHR WDR45 NHLRC1 SLC2A1 SLC35A3 CLCN4 ADSL EYS SLC1A3 PDE6H MAGEL2 ALG13 EHMT1 ERBB4 MSTO1 SYN1 MYO9A EEF1A2 AP4B1 EDC3 FLII TMEM237 SPR NOP56 MKRN3 MGAT2 PRNP CLN3 OPN1LW SLC12A3 POLG SLC46A1 CACNA1B DLG3 SCN1B PRNP DDB2 TBX1 TLR4 TINF2 PIK3CA NPC2 NDUFB10 TRNS1 NDUFAF5 COG4 SMAD4 ZNF408 MCTP2 SLC5A5 TCF20 C12ORF4 IL10 EIF2B5 SNX14 NALCN PRSS12 TSC2 PEX11B BRAT1 COA8 SEPTIN9 CLCN4 FBXO11 CDHR1 DNAJC5 MAPT FOXP2 STAT4 ARVCF FTSJ1 DUOXA2 GBA RORA COX3 TFAP2B ASPM CDKL5 RNASEH2C TREX1 TYR TTI2 GPHN NDUFA4 FH SLC7A7 TCF12 NLRP1 MBOAT7 EEF1A2 GJB6 PUF60 DHDDS SLC16A2 DMPK SLC25A12 TRNS2 HRAS HDAC4 SAMHD1 SLC24A5 NMNAT1 FGFR2 AP4M1 STAG2 SEMA4A TUBB2B FLCN SLC9A6 MAOA GABRG2 ATXN8OS PSEN1 EIF2S3 HNMT SNRNP200 ELOVL1 SLC25A15 PINK1 PRNP SLC13A5 SCN9A EXTL3 KAT6B DRD4 TNF SATB2 SLC52A3 DRD3 NPHP3 NAGS DCHS1 EPHA4 IQSEC1 PNPLA6 NOTCH2NLC SDHD MAOA LAMB2 PANK2 IMPDH1 PNKP NDUFB3 ANXA11 AIFM1 ALS2 MECP2 LEP NHLRC1 EML1 ASS1 CHCHD10 ITPR1 AMT CNNM2 PEX12 AP3B1 MED12 VANGL1 DCTN1
Protein Mutations 1
V617F
SNP 0