SNPMiner Trials by Shray Alag

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Report for Mutation C282T

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 Impact of c242T Polymorphism of p22phox in the Development of Diabetic Nephropathy,in Caucasian Diabetic Type 1 Patient.

The physiopathology of diabetic nephropathy (DN) is unclear. To investigate risk factor, the investigators choose to look about some oxidative stress genes. Today a one-gene explanation is not really possible. So the theory of some genetic predisposition to DN is more likely. The aim of the study is to look about the association of the C282T polymorphism of P22phox, a sub unit of the nicotinamide adenine dinucleotide phosphate-oxidase (NADPH oxidase) in the occurrence of DN. To follow the oxidative stress pathway of the DN, the investigators also investigate three other polymorphisms: -429 T/C, -374 T/A polymorphism of advanced glycation end-products receptor (AGER) and the p.Arg261Gln polymorphism of the 12 lipoxygenase (ALOX 12). Discordant data suggest a link between the first 2 polymorphisms and DN. The last polymorphism is correlated to albuminuria in diabetic patients.

NCT01371955 Type 1 Diabetes Mellitus Diabetic Nephropathy
MeSH:Kidney Diseases Diabetic Nephropathies Diabetes Mellitus Diabetes Mellitus, Type 1
HPO:Abnormality of the kidney Diabetes mellitus Nephropathy Type I diabetes mellitus

The aim of the study is to look about the association of the C282T polymorphism of P22phox, a sub unit of the nicotinamide adenine dinucleotide phosphate-oxidase (NADPH oxidase) in the occurrence of DN. --- C282T ---

Primary Outcomes

Measure: comparison of prevalence of homozygous polymorphism between the DN-group and the non-DN group

Time: on day 1

Secondary Outcomes

Measure: comparison of polymorphism of p22phox between the ND group and the sub-group of non-ND patients with diabetic retinopathy only

Time: day 1

Measure: comparison of polymorphism prevalence between the 3 groups

Time: day 1

Description: Kaplan Meier method

Measure: delay between diabetes diagnosis and ND onset by genetic polymorphism

Time: 20 years

Other Outcomes

Description: mg/day

Measure: albuminuria

Time: day 1

Description: HbA1c in %

Measure: HbA1c

Time: day 1

HPO Nodes

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
SNP 5
rs2281135 rs2294918 rs35652124 rs738409 rs7903146
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
Protein Mutations 12
A54T C1858T C282T C282Y E158K E23K H63D I191V K1270A K3048A P12A S9C
SNP 16
rs10830963 rs13266634 rs2266782 rs2281135 rs2294918 rs35874116 rs35874116rs rs5215 rs5219 rs738409 rs780094 rs780094s rs78408340 rs7903146 rs9701796 rs9939609
HP:0100651: Type I diabetes mellitus
Genes 52
TRNF AIRE CTRC TRNS2 MMP2 EDA CORIN TCF4 ITCH NEUROG3 SLC16A2 CNOT1 SPINK1 EDA2R TRNQ TRNL1 SLC12A3 PSTPIP1 STOX1 FOXP3 FLT1 MMP14 FOXP3 EFL1 TTC7A STAT1 TRNE EIF2AK3 SBDS MST1 TRNW COX3 SRP54 TRNS1 ND6 INS TRNH CAT COX1 HNF1A DNAJC3 PRSS1 DNAJC21 KCTD1 ND1 STUB1 TKT GPR35 ND5 ND4 CLCNKB COX2
Protein Mutations 7
C1858T C282T I191V K1270A K3048A R620W S9C
SNP 4
rs35874116 rs35874116rs rs9701796 rs9939609