SNPMiner Trials by Shray Alag


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Report for SNP rs2281135

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 Utilizing Non-Invasive Fibroscan® Technology to Identify Genetic Markers for Fatty Liver Progression

Non-alcoholic fatty liver disease (NAFLD) is a common disorder, affecting ~30% of people in the general population and up to 96% of obese individuals. Variations in several genes have been found to be associated with fatty liver, but these associations only explain a small percentage of the risk, and further studies are needed. In many cases NAFLD does not cause serious side effects, but in some individuals it progresses to scarring or hardening of the liver, liver failure, and cancer. The purpose of this research study is to determine if individuals who carry certain genetic variations in a gene related to bile and choline metabolism have an increased risk of fatty liver progressing to fibrosis, or scarring of the liver. This study will also use a new, non-invasive method called the FibroScan® to measure liver fat and liver stiffness. The FibroScan® device is FDA approved for use to measure liver stiffness, but not for the liver fat measurement. However, the FibroScan® instrument is considered a non-significant risk device. Since its induction in Europe and worldwide in 2003, there have been no adverse effects reported with this device.

NCT02267148 Non-alcoholic Fatty Liver Disease
MeSH:Liver Diseases Fatty Liver Non-alcoholic Fatty Liver Disease
HPO:Abnormality of the liver Decreased liver function Elevated hepatic transaminase Hepatic steatosis

As additional proof of principle that the measurements we are making correlate with genetics, the investigators will also measure two genetic variants that have been shown in many studies to correlate with liver fat and fibrosis by their research team and others: PNPLA3 rs738409 and rs2281135.

Primary Outcomes

Description: Measured by FibroScan® instrument

Measure: Liver stiffness measurement via transient elastography

Time: Study Day 1

Description: Measured using FibroScan® instrument

Measure: Liver fat measurement via Controlled Attenuation Parameter

Time: Study Day 1

Secondary Outcomes

Description: This is a calculated score which is a good predictor of liver disease

Measure: NAFLD-Fibrosis score

Time: Study Day 1

2 Genetical Background of Non-alcoholic Fatty Liver Disease (NAFLD) in Diabetes Mellitus and in Chronic Kidney Disease

The present study investigates relationship between non-alcoholic fatty liver disease and its risk factors, such as genetic background and diseases, such as chronic kidney disease and diabetes mellitus.

NCT02947568 Non-alcoholic Fatty Liver Disease Chronic Kidney Disease Diabetes Mellitus Other: non-interventional study
MeSH:Liver Diseases Fatty Liver Non-alcoholic Fatty Liver Disease Kidney Diseases Renal Insufficiency, Chronic Diabetes Mellitus
HPO:Abnormality of the kidney Abnormality of the liver Chronic kidney disease Decreased liver function Diabetes mellitus Elevated hepatic transaminase Hepatic steatosis Nephropathy

In case of patatin-like phospholipase domain-containing protein 3 gene (PNPLA3) : rs738409, rs2281135, rs2294918 single nuclear polimorfism (SNP) will be examined.

Primary Outcomes

Description: The association of hepatic steatosis with chronic kidney disease, diabetes mellitus and the the persence of these two will be assessed

Measure: Association of NFS (NAFLD fibrosis score) and HSI (hepatic steatosis index) with underlying conditions

Time: 2 years

Description: The association of hepatic steatosis with genetic factors will be assessed. In case of patatin-like phospholipase domain-containing protein 3 gene (PNPLA3) : rs738409, rs2281135, rs2294918 single nuclear polimorfism (SNP) will be examined

Measure: Association of genetical factors with NFS and HSI

Time: 2 years

Secondary Outcomes

Description: The association of serum creatinine, eGFR, blood urea nitrogen, serum sodium, serum potassium, serum calcium with NFS and HSI will be assessed

Measure: Association of hepatic steatosis with renal function

Time: 2 years

Description: Association of HbA1C, fructosamine, blood glucose, serum insulin, HOMAIR, serum uric acid with NFS and HSI

Measure: Association of glucose metabolism parameters with hepaic steatosis indices

Time: 2 years

Description: Association of serum bilirubine, serum GOT, serum GPT, serum GGT, serum ALP, serum LDH, INR, serum total protein, serum albumin with NFS and HSI

Measure: Association of liver function and hepatic setatosis indices

Time: 2 years

Description: Association of serum total cholesterol, serum HDL-cholesterol, serum LDL-cholesterol, serum triglyceride, serum carnitine with NFS and HSI

Measure: Association of serum lipid profile and hepatic setatosis indices

Time: 2 years

Description: association of serum iron, serum transferrine, serum transferrine saturation, serum ferritine with NFS and HSI

Measure: Association of iron metabolism parameters with hepatic setatosis indices

Time: 2 years

Description: Association of blood count, erythrocyte sedimentation rate, CRP with NFS and HSI

Measure: The relationship between blood count, sedimentation and inflammation with hepatic setatosis indices

Time: 2 years

Description: association of urinary total protein, urinary albumin, urinary total protein/creatinine ratio, urinary albumin/creatinine ratio with NFS and HSI

Measure: Assotion of serum proteins with hepatic setatosis indices

Time: 2 years

Description: Association of serum meta-Tyr, serum ortho-Tyr, urinary meta-Tyr, urinary ortho-Tyr, urinary meta-Tyr/creatinine ratio, urinary ortho-Tyr/creatinine ratio with NFS and HSI

Measure: Association of pathological tyrosine isoforms with hepatic setatosis indices

Time: 2 years


HPO Nodes


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
HP:0000077: Abnormality of the kidney
Genes 1699
SMC1A MAGED2 NAA10 NUP133 AR COL1A1 IL17RC TCF4 CASR ARX SLC34A1 ALX4 TACR3 ZNF423 EXT2 NOD2 HNF1B CEP290 SETD5 COL4A3 FGF17 OCRL CHD7 HESX1 FOXP3 KCNJ11 CCDC141 PRKCD SOX10 SETBP1 MAFB SLC4A1 MAP2K1 ERAP1 IL17RA DNASE1L3 SMS TP53 TMEM70 KCTD1 PGK1 PRMT7 NDUFS1 NEK8 ALG9 CTRC RAP1B MEN1 PTPN11 EIF2AK3 EFEMP2 GLI2 WDR35 GNB1 SDCCAG8 CEP164 BSCL2 KNL1 HPRT1 LMNB2 WWOX CRB2 PROK2 SLC3A1 ND3 XRCC2 PC COX6B1 SGPL1 REST ANTXR1 EBP RPGRIP1L TMEM67 FCGR2B FGF10 FBLN5 TRNS1 SOX4 H19 PTEN PTPN11 RAB23 FLCN SERPINF2 MNX1 DHDDS SDHC GBA LDLRAP1 SSR4 ZIC2 BBS12 PIK3CA FBN1 USP9X FAM20C AGXT GCK MRPS22 B9D2 HLA-DPA1 PAX2 FLNA BBS1 FAM20A XDH STRA6 ACSL4 SOX17 CWC27 FOXF1 FN1 LIPN GP1BB CCDC22 CTNS SULT2B1 PROKR2 KCNE5 BRCA1 DVL3 POR STXBP1 RFWD3 NDUFS2 HRAS WDR19 ASXL1 CEP55 COL7A1 WDR73 TBX1 NUMA1 LIG4 ITGB3 FGFR1 ND5 SDHD PEX3 GPC3 MOCOS CAV1 RPGRIP1L ADAT3 STAT5B LMAN1 FGF20 SDHB PMM2 EXT2 SRY CCR6 APOL1 VHL DEAF1 MYLK LEMD3 MMUT SPINK5 CLCN5 NDUFS7 CFHR5 OGG1 NPHP1 VIPAS39 PIGA APOA1 SLC17A5 GLI3 KCNJ5 GPC3 NABP1 RARB PIEZO2 CIT UQCC2 SNRPB KLLN NSUN2 NBN WT1 PPP1R15B FAT4 PEX1 CLDN19 TBX18 FIBP DVL1 GREB1L TRNT MKKS THOC6 ZFP57 CEP63 MYH9 FGA KCNA1 CLCN5 SALL4 TRAF3IP2 OSGEP ITGA2 CEP290 PRODH SLC4A4 ND2 SLC2A2 LETM1 LPIN2 SMC3 IFT172 TBX1 COL4A5 H19 NDUFAF3 CAMKMT RBM10 SRCAP CHRM3 LHX1 EYA1 SRY UBE2T TACO1 TMEM67 F10 CEP290 SCN2A EPG5 INF2 ITPR3 WT1 RPS26 FUZ GREB1L FAH CC2D2A COX20 FANCE POU3F4 DHCR24 NPHP1 RBM10 SLC6A17 KEAP1 CHD7 OCLN DCDC2 EDNRB PTCH1 FGFR3 PIK3C2A GALNT3 SH2B1 SOX9 FGFR1 ARNT2 NOD2 TRIM32 SDHC TBC1D24 NDUFV1 AKT3 SEC23B SPRY4 KIF7 SIK1 GP9 KYNU CACNA1S HLA-B NOTCH2 GRIP1 DACT1 HNF1A BUB1B CEP120 C1QBP WT1 BRAF GAS1 MBTPS2 PLG EIF2AK3 SRC TXNL4A ENPP1 YY1AP1 GPC4 CAV1 DHCR7 ADA2 HNF1A CSPP1 BBS12 TRIP13 IL23R CPT2 FLNA NDUFS8 FLNA COG1 ND1 FANCA POU6F2 SIX5 TTC8 CD151 NSD2 SON FANCM LDLR RET VHL GCM2 RBM8A DZIP1L CTLA4 SOX9 ALOXE3 LIPT2 ADGRG2 HPRT1 SFTPC TRIP13 ZAP70 UBR1 DNASE1L3 DSTYK AKT1 HAAO ARL6 FLRT3 NXN RASGRP1 ATP1A1 PPP2R3C CILK1 CFTR ND5 NDUFB11 ARX HLA-B GTF2I DLC1 TMEM237 SON PTPN22 KCNJ11 CEP135 TREX1 BTNL2 TRAF3IP1 SLX4 KMT2D DKC1 APOE SCO1 TMEM231 PLG FREM2 DNA2 PGAP2 FANCI SLC34A1 TRAF3IP1 PDX1 LRP4 TTC8 IL17RD FIG4 PIK3CA SI GPC3 RET PEX16 CPT1A SLC2A9 OSGEP TRNE DSTYK DICER1 CTU2 HYLS1 FGFR2 ARX HNF4A ALG9 NUP107 TMEM231 HOGA1 CHN1 CLPB GDNF WDR34 SEMA3E TBC1D8B ARL6IP6 RERE LAGE3 WT1 BBS10 SRP54 ABCC8 DYNC2H1 ATRX GPC4 COQ8B SIX1 OFD1 B2M ACTB SCARB2 LEMD3 SPINK1 MUC1 SDHD DDX59 SLC36A2 GABRD PEX12 CTH IRAK1 CLCN5 MST1 PAX1 RAF1 VAMP7 RIPK4 WT1 APC TRIM28 SMARCA4 AKT1 RECQL4 G6PC3 FAM149B1 TP63 ARL3 CDKN1C FLNA GNAO1 FGF8 CFH ARID2 TDGF1 SNRPB FLNA DIS3L2 VPS33B PGK1 PGAP3 COL4A4 CTNS F8 TRNQ POLE PAX4 FGFR2 TRIM8 CC2D2A SLITRK6 COX8A PQBP1 WAS KDM6A FANCE GNB1 SDHD ANLN HLA-DRB1 SHH MKS1 SLC25A20 ALMS1 BRCA2 NRAS TSC1 TMEM67 MAP3K7 DMP1 SMC1A ARID1A FANCD2 DYNC2H1 NEK1 DDX59 VHL GLA CDC42 MAP11 PLCD1 FOXE1 ARMC5 SLC25A11 WDR73 PTPN22 DYNC2H1 STXBP1 RFWD3 ND1 HSD17B4 GRIA3 GATA4 KCNJ10 LRP5 GLA FANCL NUP133 FRAS1 ND6 PHGDH WDR73 FIBP NR5A1 FLT1 FN1 COMT WASHC5 BMPER CFB NAA10 MKKS WAS UMOD SOX10 UMPS CDC42 PIGY TRNS1 RAB3GAP2 NCAPD3 HPSE2 COX1 ALG8 ACTN4 REST ZBTB16 HS6ST1 MAFB MOCS2 SIX3 ND4 C1QA ZNF423 OPLAH MET FKRP NUP107 FANCB HMBS PTPN22 RAI1 C1QA ELN PEX19 PAX6 SLX4 CYP27A1 USF3 MMUT HMOX1 BUB3 H19-ICR NDUFA11 RYR1 FANCA AP2S1 DYNC2LI1 CCN2 RAI1 MASP1 TCTN2 CCR1 MAD2L2 FOXI1 TMEM237 MAGI2 SMARCC2 TRNV WASHC5 HMGA2 C8ORF37 COX14 CEP57 BMP4 MCM5 CLDN19 GSN WNT4 WIPF1 TMEM67 CLCNKB TRNN ZNF592 LMNA SCNN1B F5 BUB1 CTLA4 RARA SCNN1G TFE3 CPT1A GLMN SIX5 SLC25A22 HNF1B SF3B4 COL4A4 FLCN JAM3 MYO1E IFT140 EPAS1 SPECC1L CEP55 COQ6 PHYH KCNQ1OT1 BBS7 NDUFAF4 BBS2 CDKL5 MARS1 PIGT NPM1 BBS9 ABCC6 ALG1 SLC34A3 VHL PEX26 TCN2 INSR SLC12A3 PRDX1 WFS1 ETFDH CISD2 COA8 IFT27 OSTM1 IL6 LIMK1 FIP1L1 TBL2 PAX2 CLDN16 WDR19 CEP164 PNPLA6 TRNT1 SDR9C7 ARL6 NADK2 TGIF1 WDR4 TBL1XR1 NPHP1 INPP5E SLC26A1 ENPP1 MDH2 STRA6 YY1 FBXL4 AFF4 KIAA0586 ASPM FKTN ADAMTSL1 TP53 KRT17 SLC1A1 OFD1 TMCO1 XPNPEP3 HIRA PRKCSH PEX7 BBS10 CCBE1 C3 MCPH1 NEK8 RAD21 NDUFAF3 DPF2 KMT2D SEC63 ADAMTS13 BUB1B CHD4 PIGO ANTXR1 FANCF WDR19 DACT1 CEP152 TBC1D20 PLVAP FAS SIX1 CTNS BMPER SLC30A9 HLA-DPB1 SDCCAG8 DLST PGM3 KANK2 GNA11 ADA TMEM138 SLC35A2 LDHA EYA1 CFI ITGB4 NDUFAF5 COQ7 KCNJ11 C1QC HNF1B TP63 WDR19 PBX1 TMEM216 CC2D2A LMX1B TTC21B ITGA3 RPGRIP1L FAT4 COQ2 HNRNPU RAI1 TRNL1 KIAA0753 CASP10 PRKCSH COL3A1 CHST14 TRIP11 BRF1 SDHB SLC7A7 CYTB SLC3A1 CDH23 CYP4F22 IQSEC2 SAA1 CDC73 ATRX ALOX12B GDF2 ALMS1 GBA PUS3 PIGV TSC2 CASR WT1 SALL4 PUF60 NPHP4 DYNC2LI1 TRIM28 SLC34A1 SNAP29 RAD51C CDC73 PIGL RRM2B PIK3CA FH HNF4A BCOR SMARCAL1 IFT172 MYD88 PDE6D JAG1 IKZF1 PYGM DICER1 NUP107 DMRT3 WNT3 HNF4A BBS4 ZEB2 TNXB PRPS1 MLXIPL LMNA ALDOB PGAM2 KCNQ1OT1 POGZ PACS1 CAVIN1 GCM2 PPARG ELP1 BAZ1B MAX TPRKB PEX1 NDUFV2 ABCC6 GATA3 IARS1 WDPCP ACTG1 SPP1 GANAB CCND1 SDHB TMEM138 RET SDHA MBTPS2 NR0B1 CFH FOXP1 FLNA WT1 NIPBL PTPRJ MECP2 NDUFA1 GTF2IRD1 CREBBP IFIH1 ETFB LAMB2 GP1BA THBD PHYH OCRL CSPP1 IL2RG PORCN CLDN10 MYO5B SOX11 PEX1 KCTD1 KYNU B9D1 TCTN3 NUP133 KCNJ10 MAP2K2 TTC37 CFI SPART CHD7 PIK3CA BRAF NDUFAF3 CLEC7A KIF14 VPS33A COPB2 TRNL1 BAP1 NRIP1 PIEZO2 DSE ADCY10 CCND2 LMOD1 DPH1 GLIS3 CFI CHST14 TRNK TBX1 FLNB PEX11B ND1 ELP1 SETD2 INS HBB AIP CLCNKB COX2 FASTKD2 EYA1 FGFR3 SCNN1B UMOD HABP2 CORIN ALG8 MYH11 FAN1 PPP3CA H19 RMRP PLCE1 PLCD1 CDKN1B NPHP4 ACTG2 VHL DCC SLC6A19 KIF14 REN RPGRIP1L WDR60 ACTG2 RPGRIP1 LMX1B NDUFB8 NSD1 FLCN H19 TMEM126B MEFV MAPKBP1 NCAPG2 INPP5E PIGN CCBE1 TMEM216 HMGA2 CA2 PIK3R2 KANSL1 MITF FREM1 STAT3 CENPF PCK1 APRT SEC24C TSC1 GLI3 CRB2 C1R HPSE2 B3GLCT NF1 POMT1 TAF13 ADAMTS3 PIGN ZFPM2 HLA-DRB1 TRRAP FREM1 MAP3K1 WDR62 TMEM67 FANCC AVPR2 IFT122 SDHB TMEM107 BBIP1 WDR4 LMNA ACVRL1 DIS3L2 PIGA COL5A2 B4GAT1 MKKS MED25 APC BCOR LTBP4 APOE MTRR ERCC4 MME EMP2 LRP2 BCS1L SDHD IFT140 SDCCAG8 MMACHC DISP1 PEX5 IFT80 GLI1 HPS1 DNASE1 LARGE1 ELN TFAP2A PTEN WNT5A AVPR2 CPT2 TREX1 PIGP PEX10 NPHP1 CHRM3 AXIN2 HNF1A SALL4 MMUT TELO2 DCC KIF1B CASK PHEX RREB1 RPGRIP1L IGF2 WDPCP FANCC PEX13 CD46 PGM3 WT1 KLLN PEX2 POMT2 BICC1 NSDHL G6PC AMMECR1 DLL1 WRN AQP2 SARS2 SOX9 SBDS GP1BB PAX2 CA2 VDR DIS3L2 RAD51C NDUFAF1 NPHS2 MAX TMEM231 PALB2 UBR1 PRTN3 MSH2 RECQL4 MEFV PIGL ITGA6 ATP7B USP8 H19 LCAT GRHPR C3 XYLT1 TTC21B HOXD13 CD109 DICER1 CEL KYNU FRAS1 TRNF APRT TBX15 TMEM107 NDUFA6 APOB MITF RAB18 PRDM16 CEP41 FLI1 STAT3 BNC2 INF2 SKI COPA PIK3R2 DHODH IFT43 PKHD1 CC2D2A PPP2R1A PRKAR1A IQCB1 GLI3 CD96 KDM6A KCNJ10 ATRX SCO2 DGKE FGFR2 USP8 ND4 PEX6 SLC29A3 KIF1B MFSD2A PML PPM1B VHL AQP2 PCK2 SLC12A1 SLC3A1 WNT4 SMARCAL1 KITLG SC5D BBS4 RERE NDUFS4 MSH3 ABCC6 SLC4A1 SLC22A12 INTU GSN FANCL PDX1 SDHB PEX14 ATRX PIGW CRTAP B9D1 CASR INSL3 INVS NDUFS6 RAP1A WDR11 CLIP2 ERCC8 PEX5 HSD11B2 NPHP3 MKKS COL4A1 TMEM127 ANOS1 MEOX1 CDK5RAP2 FANCI CEP290 TIMMDC1 TMEM127 GPKOW SHH FOXH1 ALDOB TMEM260 CEP120 TBC1D24 MAP3K7 UBAC2 NLRP3 NOTCH2 TSC2 YAP1 TMEM67 ADA RAG2 WDR35 PRSS1 KCNQ1 PEX7 CEP290 WDR60 FLNA NTNG1 ROR2 SEC61A1 F2 POU6F2 BCOR CDK6 CASR ATN1 RET TMEM231 PIGV NOTCH2 CPLANE1 SF3B4 PDSS2 AMMECR1 TRIM32 SDHAF2 SLC26A4 APC ITGB4 GNAS ATP6V0A4 ANOS1 USP9X PIGN PREPL FANCD2 CYP24A1 BBIP1 ITGA8 CPLANE1 BRCA2 KCNJ1 SEMA3A PAFAH1B1 TPRKB MGME1 TRNW RPL11 RNU4ATAC SLC37A4 BCS1L ARID1B APC2 KMT2A TRNH DNAJB11 CLCNKA RNU4ATAC RPS19 GPR35 TBX1 GDF6 ATP6 TFAP2A PRKCD PIGT TBX3 NPHP1 NUBPL TCTN3 SCARB2 AKT1 NLRP3 KAT6A B9D2 PTCH1 IL17F NPHP3 CDC73 H19 NFIA IRF5 FAS NPHP4 LRP4 DPH1 ATP6V1B1 COL4A3 RBBP8 BBS5 PDSS2 VAC14 NPHP3 MDM2 KLF11 AGTR1 WDR19 CEP290 GABBR2 CPT2 FREM2 AGXT C8ORF37 TSC1 AGPAT2 RNF139 MEFV PEX13 ESCO2 AMMECR1 COQ2 YWHAE APPL1 SCNN1A STIL CPT2 PEX6 CCDC141 DCLRE1C PREPL EVC2 FXYD2 BSCL2 FEZF1 LYZ SLC6A20 XRCC4 NUP85 IL12A FASLG RSPO2 ERCC6 SASS6 CLCNKB FOXF1 STOX1 PTPRO BUB1 ENG CTNNB1 HSPA9 PKD2 COG7 THOC6 TRNL1 HOGA1 STS FGFR3 IL12A-AS1 WFS1 NELFA LMNB2 GPC4 SUFU TRIP13 AMER1 COX10 HDAC8 PEX2 CFH KISS1R SETBP1 KIAA0753 KMT2A PEX3 NEUROD2 CSPP1 WDR19 KRAS DCHS1 NIPAL4 MOCS1 UFD1 GPC3 FLNB B3GLCT C4A FGFR1 HGD TMEM216 DNAJC21 ITGA2B YAP1 FOS SERPINH1 BRCA2 HELLPAR CACNA1D FGFR3 JMJD1C HOXA13 CD46 IFNG PALB2 FAT4 FCGR2A ITGA2B ND3 TBCK KRAS GLIS2 HPRT1 FUT8 RAD21 RMND1 NSD1 NDUFS2 RTTN CDK4 RAD51 PHC1 CD2AP PIGL NUP205 PEX19 PORCN SEMA3E PIGQ ZIC3 PROKR2 HYMAI SERPINA1 NPHP3 FGF8 TP53RK SMOC1 EVC LRP5 SMARCB1 CCND1 OCRL ABCG8 PLD1 WDR34 SPECC1L FLCN ERCC4 MKS1 IRF2BP2 STAT4 CTNNB1 MAFB STK11 LEMD3 ETFA ND2 ABCA12 ACP5 MYMK STRADA RPL26 WNT4 TTC21B CDKN1C ROBO2 PRCC TMEM231 ABCC8 AGGF1 RAG1 ANKS6 LRIG2 SDCCAG8 CDKN1B ALPL TRIM37 ADCY10 FANCB ABCC8 SMARCE1 LMX1B DYNC2LI1 NDUFAF2 LMX1B CDC73 MEFV CACNA1D NDUFB9 ITGA8 MSH6 FOXRED1 AHI1 TAPT1 STXBP1 TMEM216 PDE6D RFC2 ERBB3 HNF4A STRADA PUF60 ZIC3 CCNQ ND6 PET100 EP300 XYLT2 SOX18 GNA11 TRNW DLL4 NODAL CENPJ TBX22 MBTPS2 MICOS13 SC5D PMM2 PAH CIT FOXC2 IQCB1 KLRC4 PLAGL1 PEX10 KCNAB2 CHD7 BRAF AGPAT2 LPIN1 HBB ENPP1 SF3B4 ARID1B PIGY FGFR2 LZTFL1 COLEC11 ACE INS SHANK3 SLC37A4 MCFD2 FH CEP290 SLC9A3R1 GATA3 SHPK EP300 TMEM67 WNT3 OFD1 CAD IL7R FGFR2 NDUFS3 ESCO2 TKT GDF6 COL14A1 APC SLC5A2 WT1 DZIP1L SLC7A9 DUSP6 RAI1 AFF4 LIG4 SURF1 CEP83 GDF3 LAGE3 KCNH1 ITGB3 SPRY2 SHANK3 BBS1 STAG1 CYP11B2 NPHP1 WT1 BRIP1 WT1 ALDH18A1 IGF2 NIPBL AGT TMEM126B CLCN5 TALDO1 ARHGDIA NUP160 DHCR7 BUB1B IFT172 HIC1 CD81 GCK HSPG2 UMOD EHMT1 SMAD4 STAT1 TTC37 NPHS1 C4A PEX12 POR INVS MINPP1 PTPN22 TRNK ATP7A TRPC6 TTR OFD1 WNT4 EHMT1 IGF2 NARS2 MKS1 FLII TMEM237 PKD1 CC2D2A PKHD1 NSMF HNF1B SKIV2L MED25 SLC12A3 TCTN2 GBE1 CCDC28B SCN1B ANKLE2 TLR4 IFT27 PIK3CA RBM8A FANCB NDUFB10 MCTP2 CCND1 IL10 NOTCH3 TSC2 COA8 BSND GEMIN4 CASP10 KIF14 TCTN3 ZNF148 STAT4 NPHS1 PLEC ARVCF ZNF687 ROR2 COX3 ZAP70 PDGFRB POLR3A CDKL5 COL4A1 CCNQ TNXB COL5A1 TREX1 FH COG6 LZTFL1 SLC7A7 CFHR1 NUP93 PUF60 LRIG2 COL4A3 FAM20A AIRE GRHPR TRNS2 HRAS HDAC4 FANCG WDR35 KLHL7 CFHR3 TGM1 PYCR2 NLRP3 C1QB FLCN BLK NRAS CYB561 IFT80 AAGAB REN NEUROD1 PHF21A RAB3GAP1 MLH1 FANCB WDR34 EXTL3 GP1BB KAT6B TMEM216 IGF2 NPHP3 STX3 DCHS1 PTH1R HPRT1 SALL1 KAT6B LAMB2 GP1BA PNKP IFT43 NDUFB3 PCSK9 FAS SALL1 TP53RK VPS33A CDON CD96 ABCG5 SNAI2 VANGL1
Protein Mutations 4
C282T C677T K55R Y93H
HP:0000819: Diabetes mellitus
Genes 530
IL2RA HGSNAT ABCC8 RP1 APPL1 ND5 TCF4 GPR101 TRNS2 INSR IER3IP1 TWNK RRM2B HYMAI MAK BSCL2 IFT172 SPINK1 BEST1 XRCC4 HNF1B FSCN2 CTRC PWRN1 TRNL1 KCNJ11 ATM STOX1 ABCC8 ENPP1 CRX COX3 BBS2 CRB1 IGF1R PRKACA TINF2 FOXP3 KCNJ11 TRNS1 IRS2 MAFA HNF1B RP9 PDE4D MST1 TRNL1 WFS1 LMNB2 KLF11 GLIS3 SUFU PDE4D ATP6 DNAJC21 PRPF4 KCTD1 ND1 TUB CYTB RHO INS HBB NDUFS1 CLCNKB ZFYVE26 HFE COX2 CTRC INS GCK EIF2AK3 SAG KRAS GLI2 PALB2 CORIN USH2A NHP2 BSCL2 PRPF6 FGF8 PDX1 LIPE RNASEH2A CNGA1 TDGF1 MERTK AEBP1 PDE11A CP PPP1R3A FOS ARHGEF18 PLCD1 SLC29A3 IDH3B LMNA ND1 TRNQ PRPF3 SLC7A14 NDP XRCC4 PAX4 PDX1 MAPK8IP1 ND3 SNORD116-1 SLC2A2 IPW PTF1A INS CEL PAX4 PTF1A LIG4 HMGA2 HMGA1 NDUFS2 TRNS1 RETN POLD1 PPARG ALMS1 PROK2 FGFR1 PCNT INS LRP6 CAT HNF1A CTNNB1 COX2 INSR POLG2 SCAPER PRCD PCARE HYMAI CFTR DHDDS ZIC2 SLC25A4 LEPR BLM GJA1 KCNJ11 ZNF513 FBN1 AKT2 MMP2 LEP ARMC5 CAV1 PTPN22 GUCA1B GCK GCK PDE8B LMNA NEUROG3 FXN GATA6 SLC16A2 SNORD115-1 PAX4 BMP2 TRNL1 AMACR PTPN1 RAC1 PPARG GJA1 FLT1 PNPLA2 ZFP57 BRCA2 STAT1 SLC30A8 SBDS PDX1 POC1A ROM1 C8ORF37 PDE6B DISP1 CTNS PDE6G COX1 ZMPSTE24 IRS1 GCK LIPE ELN ABCC8 FXN DKC1 RGR HNF1A ND5 SIX3 ND4 TREX1 PROM1 SEMA4A CNBP ARL6 MEN1 TRNQ CPA1 HNF1A CAV1 ABCA4 MAGEL2 ELN TULP1 COX1 REEP6 ABCC8 NDUFA11 PLIN1 NDUFAF2 GCK DHX38 WRN HLA-DRB1 GJB4 NDUFB9 FOXP3 LEMD3 PPARG FOXRED1 DLL1 NDUFS7 MMP14 RP2 WRN RLBP1 SARS2 WRAP53 EFL1 RFC2 SLC19A2 NDUFAF1 TERC CFTR ND6 CDKN2A LMNA SPINK1 STAT3 UBR1 CIDEC ND6 DNAJC3 PLIN1 WFS1 ZFP57 ATM STUB1 HNF1B ARL3 IFT88 BRCA1 CEL TRNC OFD1 TERT DCAF17 TRNF NODAL MKRN3-AS1 NDUFA6 PNPLA2 SPINK1 NDUFAF4 PIK3R1 RDH12 STAT3 ND2 ITCH HNF1A FOXC2 APPL1 IDH3A CASR CNOT1 EDA2R PLAGL1 CYP19A1 POMGNT1 INSR AGPAT2 SLC12A3 WFS1 CISD2 GLRX5 HNF4A IL6 LIMK1 LHX1 TBL2 INS BLK PNPLA6 USP8 SLC29A3 RNASEH2B ZMPSTE24 ARL2BP IMPG2 TWNK TRNF TGIF1 GATA3 ZBTB20 RBP3 KIZ SRP54 PRPF8 TOPORS PEX10 DNM1L GJB3 NDUFS4 DNAJC3 ITPR3 RPGR FUZ NDUFS3 SOX2 GATA6 HERC2 PEX1 TRNW PDX1 TKT FAM161A AR LEPR HNF1A NSMCE2 WFS1 IFIH1 ELMO2 ARNT2 TP53 CEP19 NDUFS6 BBS1 FGFR1 HYMAI NDUFAF3 CLIP2 NDUFV1 SLC19A2 INSR NR2E3 MKKS KIAA1549 TMEM126B CP PPP1R15B KLHL7 CNGB1 GCK GCGR PTRH2 MC4R ADAR APOA5 GAS1 TIMMDC1 STAT1 AGBL5 PARN EIF2AK3 SHH FOXH1 NDUFAF5 PROKR2 WFS1 CA4 KDSR SPINK1 HNF1A TRNK KCNJ11 USB1 PAX4 EYS NEK2 PRSS1 CERKL NDUFS8 ND1 LMNA TRNK MKRN3 ERGIC1 BRAF HNF1B MOG RTEL1 POLG CCDC28B CDH23 PEX6 TRNV NDN LMNA NDUFB10 PIK3R1 KCNJ11 ZNF408 HESX1 KCNJ11 UBR1 GNAS PRSS1 ALMS1 HBB BBS2 GCK CDHR1 PRPF31 SMAD4 AIP NEUROD1 HAMP NDUFB11 TTPA TRNE AKT2 ABCC8 DMXL2 GTF2I CTRC TRNW COX3 POLR3A MTNR1B IL2RA LRAT PRKAR1A KCNJ11 HNF4A PRPH2 RNASEH2C LMNA CLRN1 TRNH OPA1 NPM1 ABCC8 HFE NRL PDE6A APOE GPR35 HNF4A AIRE TRNS2 MLXIPL GPD2 LMNA TTC8 SAMHD1 EDA TP53 NUBPL SNRPN TRMT10A NKX2-5 PWAR1 RPE65 PDX1 IGF2BP2 PRSS2 PRKACA AHI1 CAVIN1 PTCH1 BLK PPARG SPATA7 NPAP1 EIF2S3 BAZ1B SNRNP200 HNF4A POLA1 AHR NEUROD1 NDUFV2 PDX1 PSTPIP1 HJV AIP PALLD HLA-DQB1 TRNE TCF7L2 CTC1 NSMCE2 TTC7A NOP10 OTX2 PRSS2 PRKAR1A XRCC4 SOX3 HNF4A IMPDH1 NDUFB3 IFT140 DCAF17 KLF11 NEUROD1 FOXP1 CDON LIPC PLAGL1 CISD2 NDUFA1 PRSS1 GTF2IRD1 VANGL1 AGPAT2