SNPMiner Trials by Shray Alag

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Report for SNP rs58542926

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 Body Composition, Adiposity Phenotype, Metabolic Flexibility, and Gut Microbiota in PNPLA3 and TM6SF2 Gene Variant Carriers and Non-carriers With Nonalcoholic Fatty Liver Disease and Obesity. Effects of a Nutritional Intervention Combined to Exercise

Nonalcoholic fatty liver disease (NAFLD) is frequently associated with obesity. NAFLD genetic susceptibility involves Patatin Like Phospholipase Domain Containing 3 (PNPLA3) rs738409 and Transmembrane 6 Superfamily Member 2 (TM6SF2) rs58542926 polymorphisms. To date, biochemical mechanisms that affect the "metabolic flexibility" in obese NAFLD subjects, in presence or absence of genetic susceptibility, need to be better clarified. Different studies demonstrated that a dietary intervention, accompanied by a physical personalized training, significantly reduce either the hepatic fat content either insulin resistance in overweight and obese subjects, independently of weight loss. On these bases, the aim of the study is to evaluate "metabolic flexibility" in obese NAFLD subjects taking in account their genetics (presence or absence of PNPLA3 and TM6SF2 polymorphisms) and the histopathological diagnosis of either simple steatosis or nonalcoholic steatohepatitis (NASH). In addition, the composition of gut microbiota will be evaluated. Finally, in this study, two distinct healthy dietary profiles accompanied by a personalized physical training, will be tested in order to comprehend whether and how "healthy diets" could be effective not only in the prevention, but also in the clinical treatment of NAFLD and other related conditions.

NCT02951546 Non-alcoholic Fatty Liver Disease Obesity Dietary Supplement: Mediterranean diet Dietary Supplement: Low fat diet Other: Aerobic exercise
MeSH:Liver Diseases Fatty Liver Non-alcoholic Fatty Liver Disease Obesity
HPO:Abnormality of the liver Decreased liver function Elevated hepatic transaminase Hepatic steatosis Obesity

NAFLD genetic susceptibility involves Patatin Like Phospholipase Domain Containing 3 (PNPLA3) rs738409 and Transmembrane 6 Superfamily Member 2 (TM6SF2) rs58542926 polymorphisms.

Primary Outcomes

Measure: metabolic flexibility variation in lipid profile;

Time: baseline and after 18 weeks

Measure: metabolic flexibility variation in glucidic profile

Time: baseline and after 18 weeks

HPO Nodes

HP:0001397: Hepatic steatosis
Genes 137
SLC40A1 LDLR TARS2 ABCG8 DNAJC19 PNPLA2 DNAJC19 APOB PMM2 CAV1 LRPPRC PRDM16 CPT2 LMNA HSD17B4 POLG NDUFAF1 SKI BSCL2 CYP19A1 SAR1B SLC25A13 CIDEC KCNAB2 ACADVL GABRD ALMS1 COA8 AGPAT2 POLG ETFDH ETFA PPARG BSCL2 PNPLA2 AKT2 BCS1L ZMPSTE24 POLR3A PCK2 BCS1L HNF4A TYMP MRPL44 LMNA SLC25A13 DDOST RERE TRMU MARS1 LIPA COG6 CPT2 PHKA2 MPV17 ACAD9 MCCC1 LIPE TRAPPC11 APOE ATP7B NSMCE2 HFE TFAM COX15 CAV1 CEP19 LMNA HADHB EARS2 PGM1 CBS ACADL HADH BSCL2 LIPE ALDOB ADK LMNB2 ACADM HNRNPA2B1 CAVIN1 PPARG RRM2B CYP7A1 CAVIN1 FBP1 PLIN1 FOS TMEM199 CARS2 ACOX1 SLC22A5 LMNA MRPS7 HADH IARS1 XRCC4 CPT1A PPARG DGUOK PTRH2 ABHD5 NSMCE2 ACAD9 VCP GPD1 FARSB ATP6AP1 SLC25A13 TRAPPC11 RMND1 HADHA PHKG2 MPV17 LMNA POLD1 ACADM PCSK9 ALMS1 CIDEC ABHD5 LARS1 VPS33A CLPB LYRM4 PCK1 PLIN1 HNRNPA1 NGLY1 LMNA HNF1B ABCG5 SLC40A1 ETFB AGPAT2 LDLRAP1
Protein Mutations 4
C282Y E167K H63D I148M
SNP 10
rs1260326 rs2281135 rs2293152 rs2294918 rs2854116 rs2854117 rs58542926 rs641738 rs73049 rs738409
HP:0001392: Abnormality of the liver
Genes 1390
SRD5A3 WHCR CSPP1 ATP7A IL2RG MYORG NR1H4 IL17RC PEX1 B9D1 CD40LG TCF4 INSR SKIV2L RRM2B TTC37 HPD PEX11B NEU1 DOCK6 RBPJ CLEC7A RNF43 PSAP HNF1B HSD3B7 VPS33A LIPT1 EFL1 SDHC CEP290 TGFB1 CHD7 TINF2 FOXP3 PRKCD ALG6 CR2 C11ORF95 PTPN3 LACC1 ABCB11 KRT8 PLEKHM1 SETBP1 CASK PEX10 PKLR HADHA GBA TINF2 SLC4A1 AGA HADHA RPS20 IL7R TCIRG1 FLI1 GLIS3 CFI UQCRC2 IL17RA DNASE1L3 TRNK MRPL3 LCAT MPV17 TBX1 PEX11B TMEM70 KLF1 INS HBB NDUFS1 KMT2E HFE FASTKD2 ALG9 CTRC KRT18 SOS1 EIF2AK3 WDR35 PYGL FASLG CORIN BSCL2 ALG8 CD81 TNFSF12 RHAG FAN1 NCF2 LMNB2 ACADM H19 FBP1 GNE TNFRSF1B ND3 RMRP XRCC2 PC SLC29A3 ACOX1 COG8 RHAG SLC30A10 CDKN2B TJP2 COX6B1 SMPD1 SPTB WDR60 CBS RPGRIP1 SRD5A3 RPGRIP1L MLH1 ATP8B1 TRIM37 TMEM67 NHP2 SLC11A2 INPP5E NFKB1 CDKN1A HADHA CA2 ACSF3 H19 POLD1 AP1S1 F5 LYRM4 SLC2A1 KRT6B PCK1 POLG2 SEC24C HNRNPA1 DHDDS ALG13 AKT2 APOA1 B3GLCT GBA MPC1 KRT16 TET2 LDLRAP1 SLCO2A1 ACVRL1 KCNH1 PIGS APC TMEM67 USP9X CAV1 IFT122 TNFSF11 LRPPRC POMC BBIP1 B9D2 PEPD ACAT1 LMNA SPTA1 ACVRL1 GATA6 LPL DIS3L2 GNPTAB PHKG2 TNFRSF1A IDUA KRIT1 SLC25A13 BMP2 GPI SNX10 AKR1D1 BBS1 MED25 APC MAN2B1 MTRR ALAS2 ERCC4 PEX14 PNPLA2 PIEZO1 MVK PEX16 BRCA2 BCS1L SBDS TUFM VPS13A IFT140 SDCCAG8 GBA AMACR PFKM HFE PTPN11 APC INSR NPC1 CTNS TSFM PEX5 IFT172 BRCA1 IFT80 ERCC4 SLC25A13 RFWD3 PSMB4 HBA2 WDR19 ALDOA ELN ATP8B1 JAK2 MPI SMPD1 HMBS TBX1 ABCA1 ICOS UROD DCTN4 DKC1 LIG4 NBAS PEX3 TRNE ACADVL SDHA GPC3 TREX1 PEX10 CAV1 MYC HADHB HGSNAT GBA MMUT PEX26 RAB27A PEX12 PMM2 RREB1 RPGRIP1L CLDN1 MPL UQCRB MRPS16 UGT1A1 WDPCP FANCC HJV PEX13 CARS2 AP1B1 GYS2 PROP1 MRPS7 PEX2 PEPD G6PC MCM4 MMUT COG4 ABCC2 PEX26 HLA-DRB1 PPARG NDUFS7 NPHP1 VIPAS39 ABHD5 SBDS PIGA APOA1 GP1BB EFL1 VCP SLC17A5 COX4I2 GPD1 GPC3 CA2 DDRGK1 NDUFAF1 COG5 PHKA2 TWNK PHKG2 KRAS CYBC1 USP18 TMEM231 SP110 PEX1 CIDEC EOGT MSH2 IL2RB SLC39A8 MEFV TANGO2 FERMT3 ATP7B PDGFRL ATM TTC21B TERT HMGCS2 HOXD13 ENG MYH9 CEL LONP1 FGA SLCO1B3 CYP27A1 MIF DPAGT1 TERT TF CLCN7 TMEM107 CD247 NDUFA6 TRAF3IP2 DNAJC19 APOB SMPD1 CEP290 PRDM16 STK11 ND2 LETM1 ITCH LPIN2 PEX6 CASR SLCO1B1 POLG TPP2 IFT172 ZAP70 CNTNAP2 SKI H19 CYP19A1 ABCG8 PKHD1 CC2D2A CTCF GCGR CD96 PIK3CA GAA PSAP LHX1 PEX2 UBE2T PSAP ND4 PEX6 SLC29A3 TACO1 RNASEH2B POLG2 ZMPSTE24 RELA TMEM67 PCK2 POMC CD79B LBR SRP54 AKR1D1 SLC39A4 SC5D RPGRIP1L PLPBP SPTA1 RERE NKX2-5 NDUFS4 FAH CC2D2A COX20 GATA6 TERT TRAPPC11 ARSA HBA1 FANCL RFX5 PEX14 HNF1A FUCA1 OCLN DCDC2 TPI1 GUCY2D PSAP NSD2 PIK3C2A STAT6 CEP19 TERC SF3B1 NDUFS6 COG6 ACADL HADH RRAS POU2AF1 NOD2 CLIP2 NDUFV1 ERCC8 PEX5 HBB NPHP3 CAVIN1 PSMB9 RFXAP TCF3 NRXN1 FECH CP GFM1 GYPC CTSC SLCO1B3 CD28 NOTCH2 GNS HAMP CDAN1 CEP120 C1QBP ADAR CEP290 POLG2 HBG2 TIMMDC1 PARN EIF2AK3 RHAG ALDOB TNFRSF13C IL21R TRMT10C RFXANK BMPR1A STX11 CD27 CASP8 DHCR7 SGSH SLC25A19 HNF1A CSPP1 BBS12 RFT1 NLRP3 USB1 TRIP13 TMEM67 IDUA PMS1 CPT2 SLC25A20 RFXAP ADA HSD3B7 RAG2 WDR35 RMRP PCSK1 PRSS1 KCNQ1 FDX2 NDUFS8 CEP290 ND1 CCDC115 NGLY1 LMNA WDR60 FANCA MSH6 TMPRSS6 POU6F2 IL2RG NCF1 NSD2 STEAP3 INTU ADAMTSL2 SON PIK3CA FANCM LDLR KCNJ11 CLDN1 DLD TNFSF11 ABCA1 PIEZO1 ARHGAP31 RBM8A SLC13A5 NOTCH2 PEX6 EPCAM MEN1 KRAS TRIM32 PEX14 DUOX2 PDGFRB HBB UBR1 PEX13 RAG1 ABCC2 CIDEC TBX19 SDHA APC ARL6 XIAP RASGRP1 TCIRG1 SMAD4 NHLRC2 ALG1 BRCA2 POU1F1 ND5 DLL4 NDUFB11 TNFRSF11A HLA-B GTF2I EPB42 CTRC SLC22A5 PEX1 IL2RA RNU4ATAC SLC37A4 BCS1L BCHE KCNJ11 LMNA TFR2 TREX1 GUSB BTNL2 TRAF3IP1 SLX4 TNFRSF13B CYBA UGT1A1 DNAJB11 KCNN3 DKC1 PEX3 VPS45 APOE SCO1 GPR35 TBX1 CR2 ATP6 PRKCD JAK2 CTNNB1 HESX1 NPHP1 LMNA APOE FANCI LYST TET2 PEX13 TP53 NUBPL TRAF3IP1 CCDC47 PDX1 TANGO2 TTC8 LYST AP1B1 RNASEH2A MUC5B IL17F SERPINA1 PEX6 FAN1 PKLR NPHP3 C1S NPHP4 FBN1 UGT1A1 KRT18 CYP7B1 CIITA GPC3 HADH HJV KPTN XYLT1 PEX16 CYP7B1 APC UGT1A1 CPT1A BBS5 PALLD CTC1 NSMCE2 FADD TTC7A BCS1L FARSB DDRGK1 NPHP3 IFNGR1 CFTR PEX16 XRCC4 FGFR2 HNF4A MPV17 GALT SLC25A1 ACADM ALG9 KLF11 MLH3 CLCN7 IGLL1 UGT1A1 CLPB GBA TALDO1 KRT8 BTD ARSA PLAGL1 HK1 ALG2 DPM2 C8ORF37 DMD SLC40A1 SLC26A4 G6PD GALK1 AGPAT2 PEX5 PDGFRA SLC40A1 IL2RG IYD KLF1 WT1 BBS10 ATP7A RNASEH2C SRP54 ABCC8 PEX13 DYNC2H1 SLC20A2 ESCO2 GPC4 PAX8 CLCA4 C4B PCCB COG8 ABCB4 XK TNFSF15 APPL1 HEXB CPT2 PEX6 XPR1 CTSA IER3IP1 ACOX1 B2M TNFRSF1B YARS2 DCLRE1C HYMAI SCARB2 CD70 BSCL2 AHCY LYZ SPINK1 SOX10 IDUA ABCC8 GABRD WT1 FASLG ERCC6 FOXF1 STOX1 TBX19 CTBP1 DPM1 ATP8B1 PEX12 BSCL2 ENG UCP2 PKD2 RNU4ATAC FGFR2 SCYL1 COG7 DAXX MST1 PSMB8 BLVRA GPIHBP1 HADHA NELFA SURF1 TNFSF12 GPC4 SMAD4 PEX19 GNAS TRMU COX10 ALAS2 NAGA DOLK PEX2 NHP2 MCCC1 TRIM28 DHFR DNAJC21 CTSK SETBP1 PEX3 WDR19 NAB2 DPM3 RECQL4 MVK RFT1 LZTR1 G6PC3 ANK1 CDKN1C STN1 KRAS PALB2 SEMA4A EPB42 UFD1 NHP2 LIPE RIT1 RNASEH2A DCDC2 FGFRL1 HNRNPA2B1 STEAP3 PARS2 DNAJC21 LHX3 TG DCLRE1C HMGCL DIS3L2 FOS VPS33B TMEM199 BRCA2 RBCK1 HELLPAR NFKB2 CASR LMNA NOP10 SFTPA2 XRCC4 PAX4 JMJD1C RAF1 CD46 PALB2 RAG2 DGUOK COX8A ND3 CFTR FANCE ICOS RMND1 RFX6 NDUFS7 IL12A LIG4 KIF23 SCYL1 NDUFS2 HLA-DRB1 FAS NCF1 ARSB MKS1 SLC25A20 RAD51 EWSR1 ALMS1 GALE PEX26 TSC1 MMAA SLC4A1 KRT17 PAX8 ABCA1 PEX19 ZIC3 ADA2 EPB41 SERPINA1 CFTR NPHP3 MOGS FBP1 FANCD2 LBR TNPO3 SLC25A4 ATP11C LRP5 TSHR NEK1 CCND1 MET VHL ABCG8 IDUA TRMU WDR34 ABCB4 SPECC1L ERCC4 DYNC2H1 MKS1 GLB1 ASAH1 ATP6V1B2 SLC25A13 NEUROG3 ND1 TCIRG1 HSD17B4 CDKN1B LRP5 STK11 IL1RN COG1 NRAS ND6 GBA BTK AMACR ETFA ND2 PPARG FLT1 COMT DGUOK CD19 PRPS1 GBA HADHB POU1F1 DLD MKKS SEC63 TRMT5 TGFBR2 GBA HMGCL SLC4A1 HBB TRNS1 MRPL44 DDOST PCCA ABCB4 LIPA ABCD3 LIPE GATA2 BTK REST SUMF1 FUCA1 PEX3 AGGF1 PEX14 RAG1 UROS ANKS6 KCNN4 SDHD PTEN TREX1 TSHB APOC2 SLC2A1 GLB1 CDKN1B CPA1 ASL HMBS IL36RN KIT INPPL1 HYOU1 TRIM37 HPGD ELN PEX19 TGFB1 CBS CYP27A1 RAG2 TGFB1 PSAP MMUT COX10 COX15 KCNN4 CYBB HMOX1 H19-ICR NDUFA11 PLIN1 DYNC2LI1 NDUFAF2 TERC MAD2L2 NDUFB9 MSH6 KRAS CD3E FOXRED1 CD19 HBG2 TRNV PCCA HNF1A KIT WRAP53 GCLC C8ORF37 COX14 ACAD9 GNMT TREX1 ATP6AP1 RFC2 HNF4A CD3D SLC25A13 PEX12 TMEM67 TERC CTLA4 TRNN CDKN2A LMNA BCS1L IDS MET IL7R CDKN2C TSHR PLIN1 PET100 GPC1 CPT1A HNF1B NLRC4 BRCA1 PEX3 DPM3 JAM3 GNPTAB TRNW DLL4 JAK3 IFT140 MICOS13 DNAJC19 PNPLA2 PRF1 NAGA CEP55 SC5D PIGM PMM2 GALT BBS7 HLA-DRB1 ITK PRKCD NDUFAF4 BBS2 LIPA NGLY1 IDUA HAVCR2 IQCB1 MFN2 NOS3 SUMF1 BBS9 NDUFAF1 MYBPC3 SLC30A10 PEX26 PEX10 EPB41 KCNAB2 ACADVL GUSB CPT2 AGPAT2 HBB POLG ETFDH NRAS PEX16 GLRX5 LRRC8A COA8 OSTM1 LIMK1 NLRP3 TBL2 LZTFL1 FH CPOX CEP164 PNPLA6 SLC37A4 SPTB ABCB11 TWNK SFTPC ALDH7A1 INPP5E HBA1 ATPAF2 SHPK ICOS SLCO1B1 FCGR2A SPRTN FBXL4 MARS1 ALG11 TMEM67 KIAA0586 CPT2 IL7R NDUFS3 RASA2 ACAD9 AUH TKT ATP7B NSMCE2 RHBDF2 OFD1 CLCN7 IFIH1 JAK2 WT1 DZIP1L HIRA DPM2 PRKCSH GNE NCF2 SLC25A19 ARSA TFAM COX15 COG2 CEP83 SNX14 KCNH1 NEK8 BBS1 NDUFAF3 PSAP CD79A BRIP1 SEC63 ADAMTS13 ANTXR1 IGF2 FANCF PDGFRA BLNK ALG8 WDR19 PEX10 TMEM126B TPO TALDO1 FAS PDGFB CLCN7 DHCR7 BMPER IFT172 PCCB TP53 CTLA4 SDCCAG8 GCK NOTCH1 PTRH2 ADA NCF4 SLC35A2 SMAD4 STAT1 TTC37 GDF2 TMEM165 IL12RB1 RFXANK IRF5 NDUFAF5 TNFRSF13B PEX12 TRAPPC11 INVS CALR TRHR SPINK1 CD28 MECP2 SEC23B AGL ABCG8 CIITA WDR19 HBG1 GALNS OFD1 TMEM216 CC2D2A ABHD5 PEX2 LARS1 TTC21B GCDH RPGRIP1L STX1A IGF2R IGF2 BTK LIPA TRNL1 MKS1 COG2 SLC25A15 PKD1 CC2D2A TNFRSF13C SLC4A1 SP110 CASP10 ATRX PKHD1 PRKCSH HNF1B SKIV2L SOS2 KRT6A PIK3R1 TARS2 RRAS2 RTEL1 POLG TCTN2 CD55 GBE1 CCDC28B PRKAR1A SLC7A7 CYTB IFT27 NPC2 BSCL2 NDUFB10 COG4 SDHB SAA1 AP3D1 ITCH SLC5A5 PRSS1 SAR1B PEX11B RAG1 GDF2 ALMS1 F5 PMS2 COA8 GBA HBB TSC2 CASP10 CASR EXTL3 LETM1 NDUFS4 HAMP DYNC2LI1 TRIM28 PHKB PSMB8 RAD51C AKT2 ARVCF SH2D1A DUOXA2 ZAP70 LHX4 C15ORF41 RNU4ATAC POLR3A HNF4A AGA RNASEH2C TYMP IFT172 MYD88 JAG1 APOE LTBP3 ASAH1 NPM1 COG6 IKZF1 PHKA2 SLC7A7 CYBA HFE GLB1 NLRP1 CBL RFX5 MS4A1 HNF4A BBS4 ARSA NAGLU BTNL2 FAM111B PLEKHM1 DMPK AIRE BPGM MLXIPL FANCG EARS2 WDR35 SAMHD1 PGM1 AP1S1 AXIN1 LMNA ALDOB ADK PRSS2 KCNQ1OT1 HBA2 CAVIN1 BLK SNX10 PPARG RRM2B CYP7A1 IFT80 BAZ1B CTLA4 FAH SLC25A15 NEUROD1 PEX1 NDUFV2 PEX5 SLC22A5 MLH1 FANCB WDR34 CPLX1 IARS1 WDPCP EXTL3 TMEM216 TERT BOLA3 XIAP MYRF CTNNB1 CYBB SPTB GANAB NPHP3 NAGS CYC1 TTC7A NOP10 MSH2 APC UNC13D TRNW JAK2 MMEL1 MMAB IGHM MPI IFT43 MRAS NDUFB3 PCSK9 FAS STXBP2 ANK1 CFH PTPRC LBR SPIB VPS33A IL6 TET2 ASS1 NDUFA1 FECH ABCG5 MPL GTF2IRD1 PEX12 AP3B1 IFIH1 ETFB PEX19 PEX1 PRKAR1A ERBB3 A2ML1
Protein Mutations 5
C282Y G20210A H63D I148M V617F
SNP 8
rs12979860 rs2281135 rs2294918 rs58542926 rs641738 rs73049 rs738409 rs8099917
HP:0001513: Obesity
Genes 469
MID2 LMNA PDE11A BBS10 HGSNAT ABCC8 GABRA3 RP1 ADRB2 AKT2 CXORF56 OFD1 APPL1 TRIP12 LAS1L CCDC141 CARTPT CHD7 MAK TACR3 FEZF1 IFT172 BEST1 XRCC4 FSCN2 GABRD PWRN1 ADCY3 CRX SETD5 BBS2 CRB1 FGF17 IGF1R HESX1 MTTP SLC25A4 CCDC141 SOX10 RP9 HCFC1 CTSH PDE4D LMNA USP9X CUL4B HDAC8 GNAS PDE4D SUFU TSPAN7 TBX1 PRPF4 TUB TUB RHO KISS1R MAPK8IP3 KMT2A PRMT7 SETD2 INS AIP VPS13B DNMT3A RAP1B SAG TRAPPC9 SIM1 MED12 SDCCAG8 CEP164 USH2A UFD1 PNKP PRPF6 LIPE PHIP IL1RAPL1 CNGA1 IFT74 FHL1 MERTK PHF6 PROK2 PDSS1 ARHGEF18 SH2B1 IDH3B FGFR3 PRPF3 SLC7A14 PAX4 JMJD1C DPYD MAN1B1 NR0B2 WT1 SNORD116-1 FMR1 IPW KCNJ18 NSD1 ATP6AP2 ACSL4 P2RY11 MC3R ALMS1 RAB23 PROK2 FGFR1 PCNT NTRK2 CTNNB1 STX16 DYRK1B HDAC8 SCAPER PRCD SEC24C PROKR2 SYNE1 SMC1A PCARE AKT2 TNFSF4 FGF8 DHDDS ALB ADRB3 SYNE2 MYT1L LEPR BBS12 ZNF513 NIN ADNP LEP ARMC5 IQSEC2 PPARG GUCA1B POMC BBIP1 THOC2 UPF3B PAK3 HACE1 SNORD115-1 BBS1 MOG SYP COMT GNAS-AS1 MKKS GNAS WNT4 SDCCAG8 ROM1 C8ORF37 PDE6B ZNF41 GHRL IFT172 GATA4 PDE6G ELN RAB23 AGTR2 TBX1 HS6ST1 RGR FGFR1 ACADVL EMD PTEN PROM1 PSMD12 SEMA4A ARL6 MEGF8 RAI1 ABCA4 MAGEL2 DMD ELN TULP1 DCC PAX6 UCP3 CUL4B REEP6 ZNF711 RREB1 SRY PDGFB DHX38 DEAF1 HDAC8 NPHP1 RP2 RLBP1 RNPC3 C8ORF37 GP1BB AGRP SETD2 RFC2 PHF6 MC4R FRMPD4 IGF1 USP8 EP300 HLA-DQB1 ARL3 IFT88 CEL ZNF81 OFD1 MKRN3-AS1 LAS1L BBS7 BBS2 RDH12 PRDM16 MKS1 HACE1 SMC3 IDH3A PIGT SHOX BBS9 IFT172 ARHGEF6 SKI CEP290 PRMT7 PDE4D CYP19A1 POMGNT1 KCNAB2 SIN3A H6PD KDM6A IFT27 LIMK1 TBL2 LZTFL1 BLK PNPLA6 USP8 ARL6 ARL2BP HLA-DRB1 IMPG2 XYLT1 BDNF ZBTB20 RBP3 POMC KIZ SH3KBP1 ARMC5 PRPF8 TOPORS BBS4 RERE AFF4 RPGR SLC9A7 SOX2 ALG13 HERC2 MRAP2 GNAS HUWE1 EIF2S3 TRAPPC9 POU3F4 FAM161A LEPR ARNT2 HIRA BBS9 GNAS DUSP6 MCM3AP RAI1 AFF4 MECP2 FOXP1 IQSEC2 BBS10 CEP19 SH2B1 SHANK3 RAD21 GDI1 BBS1 SMARCB1 SIM1 TRIM32 RAP1A WDR11 CLIP2 WT1 SPRY4 CACNA1S NIPBL NR2E3 MKKS KIF7 KIAA1549 GHR ANOS1 KLHL7 CNKSR2 CNGB1 HCRT GCK MC4R CEP290 EHMT1 AGBL5 TAF1 ZNF365 PROKR2 CA4 HNF1A BBS12 CLCN4 POMC MTFMT EYS NEK2 TMEM67 PCSK1 RPS6KA3 MAGEL2 CERKL GNAS EHMT1 ADNP MKS1 SDC3 FLII TTC8 MKRN3 BRAF NSMF TMEM43 MOG ENPP1 DLG3 CCDC28B BBS7 SLC10A7 SLC7A7 EXOC6B RBMX CDH23 IFT27 NDN SMAD4 IQSEC2 TRIM32 ZNF408 HESX1 TCF20 ATRX CANT1 GNAS EGF ALMS1 ARL6 GNAS FLRT3 BBS2 CDHR1 PRPF31 BBIP1 PRKAR1A IGFALS SEMA3A PAX6 PCNT ARVCF GTF2I FTSJ1 LRAT P4HTM PRKAR1A FTO ARL13B KCNJ11 PRPH2 APC2 IFT172 CLRN1 KMT2D LZTFL1 NRL PDE6A APOE TBX1 BBS4 INPP5E PCSK1 KIDINS220 PTCHD1 MLXIPL USP27X HDAC4 TBX3 MEGF8 TTC8 SNRPN TRAF3IP1 PWAR1 RPE65 ATRX PDX1 TBX3 TTC8 IL17RD POGZ ARX AHI1 MAN1B1 BLK CYP7A1 SPATA7 NPAP1 BBS5 EIF2S3 BAZ1B SNRNP200 AHR NEUROD1 WDPCP XYLT1 VPS13B BBS5 ZNF711 GNAS OTX2 ERMARD KIDINS220 SOX3 HNF4A IMPDH1 IFT140 KLF11 RAB39B BPTF HSD11B1 SPG11 RPS6KA3 NF2 MECP2 LEP WDR34 UBE3A CNNM2 C8ORF37 GTF2IRD1 CREBBP SH2B1
Protein Mutations 3
G20210A P12A W64R
SNP 17
rs10163409 rs11548193 rs1544410 rs1558902 rs1761667 rs2075252 rs2228171 rs3755166 rs4343 rs45500792 rs571312 rs573112 rs58542926 rs731236 rs738409 rs7975232 rs9939609