SNPMiner Trials by Shray Alag

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Report for SNP rs2294918

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 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:0001397: Hepatic steatosis
Genes 138
PLIN1 CAV1 BCS1L HNRNPA1 BSCL2 ETFB CPT2 PGM1 LDLR KCNAB2 TMEM199 CPT1A SLC25A13 SLC22A5 NGLY1 POLG MCCC1 LYRM4 DGUOK PPARG XRCC4 ALMS1 ATP7B PCK2 POLG LMNA HADHA COG6 NDUFAF1 APOE LIPE LDLRAP1 HNF4A TYMP PRDM16 MRPL44 MPV17 HADH HADH AKT2 APOB TFAM RRM2B SLC25A13 PCK1 TKFC DNAJC19 LMNA LMNA HNF1B ABCG5 LIPE LMNA MPV17 ACADM ACOX1 CYP19A1 VPS33A FARSB BSCL2 ALMS1 ETFDH CARS2 RERE CIDEC PHKG2 DDOST CIDEC PTRH2 LMNA DNAJC19 COX15 TARS2 ALDOB BCS1L POLD1 LMNB2 GPD1 SLC40A1 PLIN1 CYP7A1 ABCG8 ACADL LMNA CEP19 SLC40A1 CAV1 VCP ACADVL POLR3A CPT2 LARS1 MARS1 GABRD ADK AGPAT2 PNPLA2 TRAPPC11 LRPPRC PHKA2 SKI ACAD9 CBS ABHD5 NSMCE2 ATP6AP1 PCSK9 CAVIN1 BSCL2 FOS ABHD5 TRMU IARS1 HFE ETFA TRAPPC11 PPARG SAR1B ZMPSTE24 EARS2 FBP1 AGPAT2 HADHB ACAD9 HSD17B4 SLC25A13 MRPS7 PNPLA2 PMM2 NSMCE2 COA8 CLPB PPARG RMND1 CAVIN1 ACADM HNRNPA2B1 LIPA
Protein Mutations 4
C282Y E167K H63D I148M
SNP 10
rs1260326 rs2281135 rs2293152 rs2294918 rs2854116 rs2854117 rs58542926 rs641738 rs73049 rs738409
HP:0000077: Abnormality of the kidney
Genes 1719
WT1 SMARCAL1 SLC34A1 SDCCAG8 KCNJ1 MICOS13 INSR ELP1 IL17F AMMECR1 KCNAB2 NF1 STIL CASP10 KCNJ11 CC2D2A GPR35 MYLK TMEM138 DYNC2LI1 RAG2 SLC9A3R1 NSD1 CYP11B2 GNA11 KRT17 SF3B4 GLA WDR35 CC2D2A CCR1 CEP41 CCR6 NDUFS3 NUP133 ANOS1 PIK3CA MOCOS INS GBA CDK6 CFI FGFR3 TRNT XRCC4 CLCNKB BSCL2 PIEZO2 BCOR LMNB2 IFT43 PHYH SLX4 DICER1 INSR OCLN KMT2D NUP93 BBS4 ABCG8 BUB3 DHODH LRP5 AQP2 ATRX AKT3 SCARB2 ABCA12 GLA FANCI FGFR1 BRF1 RAI1 RAB18 FOXF1 EDNRB CLCN5 FLRT3 SLC25A11 EVC2 SI TBC1D20 DICER1 WNT4 DICER1 WT1 NUP133 PHC1 SOX9 FGF8 SALL4 LZTFL1 LTBP4 IFT80 UFD1 NDUFAF3 TDGF1 TMEM126B SDHD SEC61A1 LPIN2 IRF5 PTPRJ FANCE KITLG WIPF1 DLST COX6B1 HBB GANAB PKHD1 FGFR2 DCC COX14 ATP7B EP300 POU3F4 FREM1 SLC5A2 COL4A3 KIF14 EXTL3 DEAF1 COL4A3 PYGM WDPCP SLC34A1 HESX1 PIGP WAS ZFP57 IL23R FANCL CFH DIS3L2 PEX12 NCAPD3 DCHS1 ITGA3 SMAD4 MAFB NDUFV1 CFH PEX5 USP8 PCK1 TGM1 CFHR1 CREBBP PLG PKD1 PREPL IRAK1 ATRX ND6 AKT1 DNMT3A NSD2 C8ORF37 PEX2 MAD2L2 WDR19 PPP2R1A FOXP3 APC TRNL1 NODAL MSH6 DYNC2H1 KCNA1 PRDX1 PEX13 SMARCE1 ALPL NEK1 MEOX1 NDUFB3 PBX1 KCNJ10 CDKN1C PTEN RFWD3 PIGN PIGT KCNQ1OT1 COL5A2 NDUFAF3 H19 LEMD3 FGA PYGL MITF CHRM3 FAT4 TAPT1 MMUT DLL1 C3 KIF1B PALB2 NDUFS7 PDE6D SDHD CAMKMT WNT4 ACSL4 RTTN VHL ABCC8 KEAP1 SC5D SDHB STXBP1 STRADA EIF2AK3 NPHP3 MKKS FKRP ABCC6 TACO1 MCPH1 NEK8 SMARCD1 TRNF ALMS1 C1QA CDK5RAP2 TRPC6 CCDC28B ND3 PIGL C4A AVPR2 APOE AURKA AMER1 VHL FGFR3 CYP4F22 PRDM16 MRPS22 AP2S1 TP53 SLC7A9 ITGB4 COLEC11 PRKCSH APRT GDNF MBTPS2 RREB1 IFT140 TMEM237 CAD TSC2 NPHP3 PAH C1QBP WASHC5 SCN2A PC TMEM216 CYB561 TMCO1 MMUT PEX19 CFTR NDUFS1 ITGA2 NXN BBS12 LMOD1 MKS1 COL4A3 SOX10 NUP205 ZBTB16 COA8 SRY DYNC2I1 KCNJ11 FLT1 SMARCB1 RECQL4 PPP2R3C WT1 POR FAS MMACHC MBTPS2 DISP1 ROBO2 PDGFRL AXIN2 FLNA PTPN22 ASPM NRAS KYNU NAA10 TLR2 CENPF CCBE1 CDC73 WT1 GATA4 WDPCP SLC2A9 F8 FGFR2 TREX1 UBR1 GBA EBP KCTD1 TRIM28 GP1BB BBS12 SBDS SLC12A3 MAP11 REN TNXB RAD51 EMP2 NRIP1 ATN1 COL4A4 HNF1B PEX11B KLLN WT1 FH SLC17A5 ADAT3 C3 LIG4 TRNS1 IFT27 INPP5E FGFR2 EXT2 KYNU MAP2K2 UMOD APC CLCNKB ESCO2 CDC73 BRAF STAT4 PALB2 BBS7 PIGO HRAS SNAP29 TBX22 COL4A1 PLCD1 ADAMTS3 PIGL RAD51C CDH23 NDUFS4 FOXC2 LMNA SDHB SOX9 CDC42 GLMN SLC3A1 TBX1 CD96 DPH1 PTPN12 OFD1 RPGRIP1L SETD5 CCDC22 APPL1 COL14A1 IL2RG COQ8B ALOX12B ND4 WDR19 SLC6A17 PIGW SERPINF2 HELLPAR HNF1A NR0B1 DMRT3 PEX6 COPB2 NDUFB9 WDR19 ITGA8 HLA-DRB1 TRNV NPHP4 CD46 HPRT1 TP63 IFT172 CACNA1D WDR19 BUB1B RPL11 WNT4 CCN2 FAT4 SLC30A9 ANTXR1 SLC34A3 KDM6A CFHR3 OSGEP NUBPL SMS DYNC2LI1 PIGY TMEM231 LIMK1 GRHPR MINPP1 PDX1 LPIN1 NARS2 MAGI2 AFF4 LYZ NPHP4 AMMECR1 ARL6 ELN NADK2 NUP160 CEP55 IFT27 POLE H19 GBE1 TSC1 FUT8 ALDH18A1 HABP2 TBX1 SALL4 WDR4 SAA1 ADGRG2 UMOD NSDHL ZNF592 CEP135 KANSL1 NDUFV2 KNL1 ERCC8 PLG ROR2 HMGA2 GPC4 TRNQ XYLT2 NLRP3 KMT2A DSTYK ITGA8 FOXI1 CA2 WDR4 MYD88 LMAN1 LRP2 PEX1 DZIP1L GCM2 NDUFB10 SIX3 FRAS1 GP1BB CORIN AGGF1 RPGRIP1L NOD2 NUMA1 RERE UQCC2 H19-ICR MASP1 B9D1 CTU2 AGTR1 FANCB SLC1A1 FIBP PIK3CA UBR1 TRIM28 FOS PTPRO CCDC141 WT1 CPLANE1 PUS3 PAX2 CCDC141 PTPN22 RAI1 SPP1 ARMC5 IGF2 LEMD3 TRAF3IP1 HLA-DPB1 TMEM216 DHDDS MEN1 LMX1B TRNS1 CSPP1 TMEM216 TRNH PIGV HGD PEX14 IL12A WT1 ERCC4 DMXL2 FCGR2B REST SGPL1 MOCS2 CAV1 CC2D2A BBS10 SRP54 DHCR24 ABCC8 ARNT2 PCK2 BBS9 CD2AP DNASE1L3 NABP1 PDE6D HPSE2 AR ALG1 SKIV2L COA3 G6PC CFI PDGFRB INF2 ENPP1 NEUROD1 LZTFL1 ARL6 C1QC UMPS DNAJB11 CTNS BRCA2 CEP55 STXBP1 NELFA CD151 COX1 TBX1 TBL1XR1 CCND1 NSUN2 PAX2 TRRAP RPGRIP1L RAD51C LMNA BRCA1 ATP7A PRTN3 CSPP1 WDR35 ZEB2 HOXD13 TCTN2 SNAI2 SASS6 ALMS1 ETFDH ELN FGFR2 PLVAP PNPLA6 SULT2B1 F10 SON WDR19 NUP107 FAT4 LCAT KCNQ1OT1 FGF17 PIK3C2A CAV1 STRA6 IL17RA COQ6 CDKL5 NSD1 BUB1 YAP1 ARL6 ABCC6 COX2 WNT4 RET STOX1 COX20 HPRT1 USP9X INTU HDAC4 SPECC1L PPM1B IARS1 CTNS PEX3 MGME1 FAS CCND1 H19-ICR ARX ODC1 HNF1B PEX2 HSD11B2 SON NPHP1 RAG1 PRCC CEP120 SCO1 PHGDH G6PC3 SLC36A2 FGFR1 IFT80 SEC63 RBM8A MYMK GDF6 MAP3K1 SRCAP CPT2 MDM2 WWOX RAB3GAP2 HOGA1 MYH11 PET100 GLI3 PML SLC29A3 GP1BA WDR11 SCNN1B HSPG2 FBLN5 SCNN1B TMEM231 ZNF148 FRAS1 BLK SDHC SEMA3E FANCF IFT140 TBX3 KCNJ10 CHD7 CC2D2A SHH TCTN2 LMX1B CPT2 CEP290 ZIC2 MYO5B PGK1 PLEC KAT6A VDR CCND1 FANCG PPP3CA FUZ NIPBL YY1 IL7R ITGA2B FBN1 COQ7 CDKL5 NLRP3 KIAA0753 APOE ALDOB LETM1 INS FANCI PIGN GABBR2 APC2 EYA1 PIGA ACP5 ZAP70 TPRKB BUB1 MCM5 TMEM231 EPAS1 SPECC1L TFE3 SIX5 RPGRIP1L TRIM8 ASXL1 ETFA SF3B4 ALOXE3 PKD2 TRNN SMO TSC2 FGF10 BAX THOC6 TRAF3IP2 CLCN5 CEP290 ZNF423 DPF2 RPGRIP1L VPS33A NOTCH2 SLC4A4 DACT1 KLLN GANAB INPP5E WT1 PRKAR1A LMX1B CEP83 LRP4 WDR62 ANKS6 WAS OCRL CASP10 PIGT CA2 DHCR7 B9D2 RASGRP1 POGZ ANTXR1 LDLRAP1 IGF2 TMEM67 TMEM237 KIF7 EHMT1 KIAA0753 GNB1 MLH3 NOTCH3 DACT1 HNF4A INVS PQBP1 SLC3A1 FLCN ITGB4 VIPAS39 RARB CEP290 GRIP1 GLI2 WDR73 TMEM127 KAT6B BBIP1 AAGAB PACS1 PIK3CA TP53RK NDUFAF1 FBXL4 PEX13 COL1A1 FLNA HMBS TREX1 DNASE1 NOTCH2 MAX WT1 GPC3 VAC14 KIF1B USF3 DNAJC21 CCNQ USP9X BBIP1 NBN CWC27 PEX3 C1QB CHD7 CD109 EIF2AK3 ENG TKT MBTPS2 CLEC7A APC TALDO1 BSND RPL26 CIT TRIP11 USP8 WDR73 PGM3 FGFR1 FLNA SOX18 GNB1 PROKR2 KMT2D GATM FGFR3 GLI3 BCS1L HAAO TSC2 LRP4 POMT1 FAN1 B4GAT1 ARID1B PTEN STK11 CLCN5 SOX9 GPC3 MEFV OSTM1 CTLA4 BRIP1 INSL3 HOGA1 ATRX GATA3 MED25 TTC37 SALL4 YAP1 FXYD2 CHD7 MTRR PEX1 REN ND4 GPC3 MSH3 NCAPG2 STX3 TRIM32 CFH GRHPR TCF4 ALG8 BCOR TRNK NPHS1 CFI SLC7A7 HRAS SETBP1 IRF2BP2 RAI1 SLC35A2 SLC37A4 TFAP2A PTCH1 SEMA3E PIGQ CHST14 RPGRIP1 CEP120 XDH PDSS2 KCNH1 GALNT3 CLDN16 PEX10 ESCO2 NUP107 WT1 WRN DVL1 GCM2 COX8A BRAF NRAS POU6F2 RAD21 C4A MNX1 CEP290 GREB1L IL6 FLCN INF2 CTNNB1 SLC25A20 FANCA DSTYK KLHL7 RET WFS1 MST1 PEX12 DSE NDUFS6 NPHS2 SLC2A2 MET RAB23 GEMIN4 SCNN1A XRCC2 KISS1R TMEM67 WDR19 OFD1 FAM20A NTNG1 B2M CRTAP OCRL PIK3R2 WNT5A ALX4 AGPAT2 HSD17B4 DCLRE1C NPHP1 PMM2 GTF2IRD1 ND5 NDUFS8 FANCB FAS GPKOW SLC22A12 PIGY CEP57 FANCM LDLR ERCC6 CPT1A GPC4 CTLA4 MUC1 HPSE2 DIS3L2 OFD1 SDHB CLIP2 GCK COG6 COMT POR DCDC2 SFTPC XYLT1 STAT4 SLC4A1 GP1BA RMRP SLITRK6 GLIS3 SIX1 ERAP1 MAFB NDUFS2 ENPP1 BICC1 CFHR5 PDSS2 HIRA DKC1 TBCK AKT1 NPHP1 PAX6 SRY WFS1 GNAO1 TMEM107 PGAM2 SEC23B DYNC2I2 CHRM3 CYP24A1 KIF14 MDH2 GSN PLA2G2A TBC1D24 HLA-B CYTB WNT3 MKS1 TTC8 PROKR2 TRNL1 SLC6A20 PAX4 IQCB1 MEFV TMEM67 BCS1L PLAGL1 PRKCD HNF1A ADAMTS13 ND3 ARL3 CEP164 SLC12A1 STRA6 ND6 CLDN19 KMT2A COL4A1 RPS26 TTC21B ACTG2 AGXT LAMB2 CILK1 BBS10 MKS1 ARID2 SLC7A7 KCNQ1 EYA1 GCK ERBB3 ACTN4 IFT122 ADA2 FGFR2 SRC PMM2 RET TRNL1 HDAC8 LIPN THOC6 SDR9C7 PIK3CA DHCR7 RAB3GAP1 TREX1 IL17RC NPHP1 IFT172 NDUFB8 VHL TCTN3 RECQL4 PEX16 MITF SETBP1 KRAS TFAP2A CLCNKA ATP6V0A4 CPLANE1 RNU4ATAC ZIC3 B3GLCT RAI1 SALL1 CDKN1B F2 BBS5 PUF60 GREB1L DHX37 ND1 SDHD SLC26A4 TXNL4A HS6ST1 MSH2 ALDOB TRNE ND1 LAGE3 COQ2 HNF1B ATP1A1 LMNA COX10 MKKS THBD F5 LRIG2 TRIM37 HLA-DRB1 ALG9 FOXE1 FANCC H19-ICR SLC6A19 LIG4 TCTN3 COG1 MAP3K7 TBX15 H19 CFB MECP2 MFSD2A FANCB HNF4A PKD1 FANCD2 LARGE1 ADCY10 ZIC3 ADA PLCE1 CEP63 B9D1 BAZ1B TRNS2 PAFAH1B1 PCSK9 BCOR LRP5 CLCNKB FREM1 POMT2 DYNC2LI1 SMOC1 APRT COL4A5 SDHD ARX COA8 ITGB3 ACTG1 CLPB FLCN CAVIN1 PIGA FLNA ARID1B NPHP4 JAG1 FAM20A MMUT FAH ZNF423 STAT1 IFNG SDCCAG8 TBX18 YWHAE MED25 FGFR3 DYNC2I2 GLIS2 HYLS1 TACR3 TTC21B RNU4ATAC NPHS1 PIGL NDUFA6 PIK3R2 AIRE SF3B4 NPHP3 MEFV PIGV FH DPH1 SMC1A PIK3CA KAT6B CEP164 HMOX1 MEFV PLCD1 PUF60 DIS3L2 BTNL2 SPART PGM3 DUSP6 KANK2 NDUFA1 PLD1 TBC1D24 CHD7 BBS1 NDUFA11 ALG9 CASR FLII JAM3 SMARCAL1 PNKP NSMF BBS1 EP300 LEMD3 GLI3 EXT2 TSC1 ARL6IP6 SERPINH1 AMMECR1 HIC1 C8ORF37 FOXF1 BAP1 NPHP1 GP1BB F8 GDF6 TRNK DYNC2I2 PEX7 GABRD ABCC6 AGPAT2 POU6F2 PEX10 WDR73 MARS1 CSPP1 FANCA ATRX CDC73 OFD1 CLDN19 KCNJ10 NUP133 SPINK5 SLX4 HPRT1 IFIH1 SNRPB PRKCD SETD2 RPS19 SCN1B FCGR2A LAGE3 SLC26A1 CTH FEZF1 TP63 CDC73 TMEM231 TTR PDX1 STS FANCL FGF20 SOX17 GNAS DDX59 STAT5B ND2 KLF11 ARX OCRL MAP3K7 COG7 PEX7 SIX5 APOA1 IL12A-AS1 FOXH1 CASR PORCN STAT3 KIF14 COL4A4 FGF8 DLC1 CTNNB1 TRNT1 IFT43 CDK4 FKTN ITGA6 AKT1 SOX11 PRKCSH DDX59 CLCN5 KLRC4 TRIP13 PIEZO2 EVC CRB2 PEX6 TELO2 AGXT LRIG2 IFT172 DNA2 HLA-B DCHS1 FIBP NOD2 CEP290 HPRT1 SHANK3 SCO2 NDUFS2 NDUFB11 SLC25A22 VPS33A HSPA9 ADCY10 TP53 FLI1 NF1 CD46 GPC4 LIPT2 TIMMDC1 NDUFAF8 RAD21 BRCA2 GAS1 TMEM70 FASLG COX3 FANCB STRADA FAM20C ROR2 SDHA SNRPB MCTP2 PIGN ARVCF KIAA0586 INVS OPLAH TGIF1 FOXRED1 PTPN11 IQSEC2 SKI SDHC VPS33B MAPKBP1 MKKS NDUFAF4 CEP290 CISD2 B3GLCT AQP2 ZAP70 UBE2T BNC2 NPM1 SMC1A PEX1 AVPR2 PPARG STAG1 TRIM32 CCND2 TTC21B RBM10 EFEMP2 PRODH PORCN FLCN MYH9 FREM2 PTPN22 RBM10 PREPL PHEX RET GSN RFC2 IQCB1 OGG1 DCC RAF1 TSC1 CCNQ NDUFAF3 FOXP1 SOX10 EYA1 ANOS1 ERCC4 PTPN11 BBS2 VAMP7 CASR JMJD1C VANGL1 GRIA3 HBB MAFB NLRP3 PKD2 OSGEP FLNA TRIP13 SIX1 CACNA1S CENPJ PAX1 CDKN1B NAA10 TMEM126B ND5 NFIA SDHB BUB1B CLDN10 ATP6V1B1 EPG5 EHMT1 BMPER SOX4 ELP1 NR5A1 MKKS YY1AP1 NDUFAF2 LMNB2 HNF1A ARID1A RNF139 TCTN3 BRAF AIP TMEM67 POLR3A CPT2 TRNW TBX1 SPRY2 CCBE1 CPT1A HNF4A PPP1R15B SLC4A1 TRAF3IP1 CEP290 TNXB TMEM67 SEC24C BSCL2 DYNC2H1 NEUROD2 CDKN1C ANKLE2 BMP4 MAX TMEM107 SPRY4 PRMT7 COL7A1 TPRKB GPC3 PGAP2 ALG8 TTC8 PAX2 RSPO2 FANCE SHANK3 NPHP3 NDUFAF5 TMEM237 NOTCH2 TMEM67 SMARCC2 SDHAF2 PEX19 CD81 CHST14 RFWD3 PGK1 WDR35 CTNS ZFPM2 SURF1 LHX1 TMEM127 CDON NIPBL HNF4A CHD4 PHYH ACE ENPP1 RRM2B SCARB2 COQ2 DYNC2I1 NPHP1 APOB PEX5 ACVRL1 INTS1 FLCN GDF3 FH IL17RD SLC34A1 HNF1B PEX26 TRIP13 NUP85 TP53RK BRCA2 ITGA2B RIPK4 FIG4 VHL SMC3 B9D2 MAGED2 ANLN CASK XPNPEP3 TTC37 ZNF687 RERE TMEM67 TAF13 KRAS NIPAL4 MLXIPL HOXA13 RBBP8 KCNJ11 FREM2 SALL1 ATP6 NUP107 LAMB2 IKZF1 UBAC2 RARA LMX1B APC TMEM138 AGT SSR4 TCN2 MAP2K1 CHN1 DGKE VHL ND1 SMARCA4 APOL1 FIP1L1 MOCS1 NPHP3 HLA-DPA1 NEK8 SHPK ABCC8 TLR4 DVL3 RMND1 ADA DMP1 DYNC2H1 WNT3 TMEM216 MLH1 COPA PKHD1 FANCD2 BICC1 CPT2 ETFB FAM149B1 TBC1D8B SC5D GTF2I GDF2 BMPER FLNA MCC STXBP1 DNASE1L3 KCNE5 PYCR2 IL10 METTL5 SHH CRB2 SLC37A4 PTCH1 SH2B1 IGF2 CDC42 REST STAT3 TMEM260 AHI1 PRPS1 GNA11 GLI1 COL5A1 CACNA1D PTPN22 BBS4 TRNW ABCG5 AFF4 SDCCAG8 FN1 WT1 ADAMTSL1 FN1 HPS1 PROK2 WASHC5 SERPINA1 ITPR3 CEP152 MYO1E SLC12A3 PHF21A CYP27A1 SLC3A1 HNRNPU BUB1B FANCC ITGB3 DLL4 RAD54B SIK1 TBL2 SDHB TMEM216 DZIP1L RYR1 FLNB KYNU RBM8A IGF2 CEL SDCCAG8 MME ND2 CC2D2A PTH1R ARHGDIA KCTD1 GATA3 SEMA3A GP9 KCNJ5 ACTG2 LDHA TMEM231 CASR UMOD SUFU SARS2 HYMAI FLNA FLNB HMGA2 KDM6A PGAP3 SCNN1G VHL MCFD2 ACTB PUF60 COL3A1 CD96 CIT
Protein Mutations 4
C282T C677T K55R Y93H
SNP 5
rs2281135 rs2294918 rs35652124 rs738409 rs7903146
HP:0000819: Diabetes mellitus
Genes 528
PLIN1 ABCC8 CASR PRSS1 ELMO2 LIMK1 SOX3 PDX1 SLC2A2 PDX1 PDX1 HNF1A HYMAI SPINK1 GNAS COX1 REEP6 PRPF6 STAT3 ND2 SPINK1 KLF11 KIAA1549 WRN KCNJ11 LIG4 ARL6 EDA2R ELN KCNJ11 FOXH1 WFS1 PWAR1 HMGA1 RRM2B GPR35 LIPE PRSS2 WRAP53 STAT3 HAMP TRNC PPP1R3A ATM PAX4 MMP14 RDH12 CP ZNF408 BRAF TRNK TRNL1 ND4 TTC7A NDUFS3 NDUFV2 AEBP1 SPINK1 PSTPIP1 HMGA2 LRP6 LIPE PALLD TCF4 TRNQ CDKN2A TRNK TTPA INS NDUFB11 GJA1 PAX4 CEL PTCH1 PRSS2 XRCC4 BSCL2 SLC7A14 LMNB2 BBS2 PALB2 INSR TIMMDC1 NDUFAF8 NDUFB10 SIX3 AGBL5 WRN GAS1 COX3 PLAGL1 TREX1 PDX1 SMAD4 SLC19A2 LMNA CORIN PDE8B IL6 BEST1 CRX PRKAR1A WFS1 TGIF1 MST1 NDN GCK NDUFS6 CFTR RETN FOXRED1 RBP3 CNGB1 LIPC ZNF513 GPD2 UBR1 NDUFAF4 WFS1 FOS ABCC8 CISD2 TRNQ IFT140 HFE HYMAI IRS1 HNF4A RNASEH2B FGF8 ARMC5 APOA5 LEMD3 DCAF17 PPARG EDA TP53 DCAF17 AGPAT2 GLRX5 OFD1 TINF2 TRNS1 MAGEL2 APPL1 MAPK8IP1 ARL6 GTF2IRD1 PPARG TRNH NDUFS8 NDUFAF3 TDGF1 CDHR1 SNORD115-1 ZFYVE26 TMEM126B CP IGF2BP2 PTPN22 CAV1 CNGA1 DHDDS RFC2 KIZ MEN1 HBB XRCC4 TRNW PRPF8 FOXP1 ABCC8 LMNA NEK2 SNRPN LMNA MAK FGFR1 MMP2 CLIP2 GCK BBS2 HESX1 KCNJ11 ZFP57 PRKACA GLIS3 HNF1A VANGL1 NDUFS2 NEUROD1 NDUFV1 ABCA4 C8ORF37 TRNS2 DMPK LEP BRCA1 ADAR IFIH1 GCK CERKL NRL COX1 CTRC INS GJB4 WFS1 AIP RAC1 GJB3 SBDS ND5 PTF1A LMNA ITCH PROM1 PRSS1 PIK3R1 NEUROD1 HBB GCK CISD2 ND6 IMPDH1 TERT LEPR ALMS1 BRCA2 PRCD BMP2 CAT ELN KCNJ11 TRNL1 PNPLA6 PAX4 NDUFAF2 FOXP3 GATA6 PRPF4 PLAGL1 NODAL HNF1A CA4 TUB CAV1 RNASEH2C TTC8 POLR3A PIK3R1 NR2E3 HNF4A NDUFB3 POLA1 PWRN1 PRKACA PCARE AR INSR COX2 STOX1 IL2RA PDE4D BSCL2 HGSNAT CTNS DNAJC3 IGF1R KLF11 IPW GJA1 GCK DLL1 PEX10 HNF1B CTC1 DNM1L ND6 ARHGEF18 RP1 SLC25A4 NSMCE2 TRNL1 CLRN1 AHR STAT1 NDUFS7 ND1 OPA1 DNAJC3 NDUFAF5 ABCC8 AMACR NOP10 EIF2AK3 MKKS ABCC8 PPARG TRNF ALMS1 GUCA1B PDE6G CTNNB1 CCDC28B ND3 INSR LHX1 CDON APOE HNF4A CPA1 SLC29A3 DMXL2 TOPORS IDH3B NEUROG3 HFE SCAPER ND1 ARL2BP PDE6B BLK TRNE HNF1B HNF1B SAMHD1 PEX6 NEUROD1 NPAP1 COX3 GPR101 CNOT1 EIF2S3 PRPF3 IL2RA HLA-DRB1 ZIC2 NDUFS1 SPATA7 TRMT10A BLM CYP19A1 FUZ PRKAR1A CYTB PTRH2 LMNA TRNV FBN1 MLXIPL ZFP57 AIP KCNJ11 KCNJ11 KRAS FLT1 FXN PLIN1 INS WFS1 TWNK RPGR HNF4A DISP1 BLK PNPLA2 POLG MC4R POLG2 BAZ1B NSMCE2 RTEL1 TRNS2 PROKR2 ND1 PPARG NDP AHI1 SOX2 SAG SLC29A3 HERC2 UBR1 IER3IP1 KCTD1 ABCC8 CFTR CNBP CAVIN1 SLC12A3 MKRN3-AS1 FOXP3 SLC16A2 TWNK PROK2 PCNT EYS COX2 TRNF RGR GTF2I STAT1 PAX4 DHX38 IDH3A ZMPSTE24 PPP1R15B XRCC4 PTPN1 CLCNKB HJV ERGIC1 LEPR RHO SHH NPM1 ZBTB20 ATM NDUFA6 INS AIRE RP9 PTF1A TCF7L2 KLHL7 DNAJC21 AKT2 RLBP1 AKT2 TP53 PLCD1 NKX2-5 CDH23 NDUFS4 FOXC2 HNF1A LMNA LMNA MTNR1B HNF1A TRNW MKRN3 SRP54 GLI2 NDUFA1 IRS2 NDUFA11 TERC USH2A CTRC POC1A RP2 ITPR3 MOG PDX1 IFT172 APPL1 ARNT2 ATP6 ND5 SNORD116-1 CIDEC BBS1 NDUFAF1 PDE11A FAM161A RPE65 PDE4D PARN INS PRPH2 ROM1 TBL2 OTX2 POLD1 MAFA HNF4A KDSR CEP19 GCK SEMA4A ARL3 CEL LRAT HNF1A GATA6 TULP1 SNRNP200 IFT88 AGPAT2 TRNE FSCN2 TRNS1 NDUFB9 GATA3 STUB1 ENPP1 MERTK RNASEH2A KCNJ11 HLA-DQB1 NHP2 FXN IMPG2 SUFU POMGNT1 EIF2AK3 SARS2 HYMAI GCK TKT USB1 ZMPSTE24 PRPF31 HNF1B PDX1 SLC30A8 PNPLA2 SLC19A2 DKC1 PDE6A USP8 EFL1 FGFR1 CRB1 PEX1 NUBPL
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:0001392: Abnormality of the liver
Genes 1412
PLIN1 CTBP1 CASR BCS1L GLB1 GDF2 SDCCAG8 TCIRG1 MICOS13 RAG1 INSR IFT172 TSC2 CDIN1 IL17F BLNK KCNAB2 FAN1 PHKA2 ARHGAP31 SGSH TSFM STK11 KCNN4 RNASEH2C EPCAM GPC3 RRAS2 OSTM1 CASP10 CC2D2A PDGFRA BRIP1 MOGS SFTPC ASAH1 NDUFAF1 BOLA3 GPR35 LIPE MED25 RAG2 TYMP TTC37 KCNH1 LTBP3 MTRR RNASEH2A PEX1 WDR35 CC2D2A PIEZO1 RHAG TTC7A GPC3 MLH3 FAH NDUFS3 MSH2 AUH IL6 POLG2 ATP7A ALDH7A1 SRD5A3 TRIM32 AXIN1 TCF4 AP1B1 ALG8 RUNX1 SERPINA1 SLC7A7 INS GBA ICOS SETBP1 CFI ALAS2 MYBPC3 SLC35A2 SLC37A4 MRPS16 RPGRIP1 DLD BSCL2 IFT43 PKLR GBA KCNH1 TRNW MRAS PEX12 CIDEC SLX4 PCCA PALB2 PEX10 DHFR OCLN PFKM CASK GLB1 ACADVL COX8A BBS4 TREX1 STX11 AGA POU6F2 ABCG8 TBX19 DAXX HGSNAT CEP290 LIPA MARS1 LRP5 BCS1L SLC25A20 FCGR2A PSMB8 FANCA ARSA CLCN7 MST1 PEX12 TRAPPC11 NCF4 NDUFS6 ARSB CFTR LYST RAG1 TPP2 NBAS FOXF1 UROD F5 ARSA AP1S1 XRCC2 TMEM67 ITCH WDR19 OFD1 UGT1A1 B2M WT1 PDGFRB HYMAI TRAPPC11 UNC13D SRD5A3 SRP54 AGPAT2 TNNI3 TINF2 RHAG HSD17B4 DCLRE1C HSD3B7 NPHP1 ACAT1 ABCA1 PMM2 GTF2IRD1 ND5 IFT80 COG8 UFD1 LETM1 SLC26A4 NDUFS8 NDUFAF3 FANCB SP110 TMEM126B HNRNPA2B1 NPC1 GPIHBP1 DPM3 TSHR RFXANK ICOS LPIN2 FANCM CD3D GPC1 SNX10 LDLR JAK2 ERCC6 POU1F1 COX6B1 TMEM199 PCCA CPT1A LHX4 GPC4 HNF1A HBB GANAB PKHD1 XRCC4 KRT8 TET2 COX14 ATP7B HFE SUMF1 OFD1 DGUOK CD3E ALG13 EXTL3 NCF1 PIK3CA CLIP2 COG6 COMT DCDC2 WDPCP SLC4A1 HLA-DRB1 DPM3 SLC5A5 RMRP GLIS3 PEX26 KCNN4 PLEKHM1 DCDC2 DIS3L2 PEX12 LBR RAB27A TRMT5 NDUFS2 PKLR SMAD4 CALR NDUFV1 APC CFH PEX5 TFAM NEU1 NOTCH1 DMPK DUOX2 HIRA DKC1 BRCA1 ADAR UQCRC2 STEAP3 PCK1 PEX19 IFIH1 DOLK CPLX1 MRPL3 MSH6 PMS1 CTSA APC PKD1 STK11 DYNC2I2 PRSS1 ACADM HBB IGLL1 SOS1 LCAT COG6 STX1A HMGCS2 RNF43 TERT G6PD NSD2 CYTB FBP1 C8ORF37 MKS1 BRCA2 IL2RB PEX2 SLC22A5 TP53 HMGCL MAD2L2 PAX4 IQCB1 WDR19 TMEM67 C11ORF95 FOXP3 IL12RB1 ABCG8 BCS1L TRNL1 PRKCD SLC4A1 TALDO1 HNF1A RAF1 MSH6 TANGO2 ADAMTS13 DYNC2H1 ABCA1 BTK RFXANK ND3 PEX13 C1S NEK1 HK1 TERC NDUFB3 ND6 HBB RPS20 CDKN1C AGA TERC H19 FGA RIT1 PYGL NCF1 CR2 IL2RA MYC ACAD9 MKS1 SLC7A7 CAVIN1 KCNQ1 NFKB2 CLDN1 PEPD MMUT GCK ALG8 PRKCD CTC1 IFT122 PMM2 KRT6A NSMCE2 CDKN2B PALB2 EPB42 NDUFS7 PEX16 SCNN1B HAVCR2 HBA2 ASAH1 RNU4ATAC DHCR7 KMT2E KIT TREX1 SPTB AMACR IL17RC PSAP NAB2 SC5D APC IFT172 DMD EIF2AK3 RECQL4 NGLY1 PEX16 NPHP3 PMS2 PIGM A2ML1 POLG TACO1 LYRM4 SETBP1 CASR ALMS1 ATRX TBX19 GUSB CCDC28B ND3 SLCO2A1 EPB41 CPT2 APOE RNU4ATAC SDHD VHL GCDH B3GLCT CDKN1B PRDM16 BBS5 C4B NEUROG3 ARSA SEC63 HYOU1 NHP2 TNFRSF11A SDHC PRKCSH UROS ATPAF2 PEX13 MSH2 PSAP HESX1 COG4 ALDOB RREB1 DDRGK1 CD40LG IFT140 PEX11B ND1 HNF1B SLC39A8 NPHP3 LMNA CFTR COX10 C1QBP AKR1D1 SMPD1 RFT1 LHX3 PEX3 PC NAGA TMEM216 MMUT BTNL2 ABCG8 TRIM37 SLC25A1 POMC MEN1 USP18 PSAP PEX19 FBN1 NDUFS1 PEX1 TNFRSF13C PDGFB ALG9 LIG4 MKS1 GALNS GBA NAGLU COA8 LMNA MAN2B1 CTSC HMGCL KCNJ11 ANK1 TARS2 TGFBR2 DYNC2I1 KRAS TINF2 FLT1 SLC30A10 SP110 GPD1 SMPD1 ACADL NHLRC2 TRMU HADHA HNF4A FAS PKD1 FANCD2 TPI1 TMEM165 PTPRC TCIRG1 ZIC3 COX10 POLG ADA ABCB4 DMPK PEX2 SEMA4A COG2 POLG2 BAZ1B EXTL3 CYP7B1 ABCD3 UQCRB PCSK9 KRT8 NDUFS4 CTLA4 ASXL1 WT1 LRP5 WDPCP DYNC2LI1 ATP7A EARS2 ASS1 GYPC GCGR GBA MPL CDKN1A DUOXA2 TRIM28 GP1BB CTNNB1 CYP7B1 TGFB1 COA8 HPD CLPB PIK3CA EFL1 BBS12 SBDS CAVIN1 MVK ICOS PAX8 PYGL RAD51 GALT NPHP4 SFTPA2 JAG1 MMUT KIT PEX11B BSCL2 SLCO1B3 FAH PSMB9 SLC17A5 IDUA TRNS1 NFKB1 IFT27 GBA TPO INPP5E STAT1 SDCCAG8 BMPR1A TET2 RAG2 HLA-DRB1 HADHB APC XIAP POLG GNPTAB ESCO2 MS4A1 TTC21B SLC30A10 NAGA ATM NDUFA6 MIF AIRE SEC23B BBS7 UQCRFS1 MPV17 NPHP3 MEFV STXBP2 CBS AKT2 RFX5 CEP164 HMOX1 FH APC GBA RAD51C ACSF3 DIS3L2 KRAS NDUFS4 BTNL2 DNAJC19 LMNA SH2D1A HBA2 ABCB11 ALG1 NDUFA1 TBX1 CHD7 SLC25A15 BBS1 NDUFA11 CD96 ALG9 IL12A TNFRSF13B CD28 MLH1 MPC1 RPGRIP1L JAM3 IL7R LZTR1 APPL1 MECP2 IL2RG PRPS1 CIDEC TG PHKG2 DDOST BBS1 POU1F1 ND4 CNTNAP2 WDR19 PARN EOGT TSC1 TRIM37 PEX10 HMBS CTCF C8ORF37 PRKAR1A NPHP1 SPTA1 GPI DLD KRT18 VCP HELLPAR TRNK FASLG TSHR DYNC2I2 GATA6 GABRD ADK SLC20A2 PIEZO1 AGPAT2 PEX10 PEX6 AKT2 CTLA4 COG4 GALT NDUFB9 CSPP1 PHKA2 HBB ITK RNASEH2A KIF20A CBS SUMF1 APOA1 HLA-DRB1 TRNV MPI CD27 UGT1A1 DPAGT1 SLC25A19 CLCN7 CD46 TNFSF12 PSAP RRAS PLPBP IFT172 WDR19 SLC4A1 LACC1 PDGFRL IFIH1 TRHR GALE TNFSF15 APC NDUFS7 PRKCD PNPLA2 TGFB1 IDUA EFL1 NOS3 LIPA NUBPL SNX14 NHP2 DYNC2LI1 CCDC47 LIMK1 LBR CPT2 PDX1 PSAP HNF1A CPOX FANCL EPB42 TERT CD79A SURF1 SLC22A5 LYZ IL36RN ATP11C ND2 KLF11 COG7 LIG4 ARL6 ELN APOA1 CTSK SPTB RELA DPM2 PRKAR1A ERBB3 PCCB CEP55 TJP2 GBE1 RRM2B ABCC2 UGT1A1 CD81 ATP6V1B2 ZAP70 WRAP53 ADA2 MYRF MRPL44 HAMP EPB41 FGFRL1 KLF1 PHKB CLCA4 SAA1 HADH CP BTK ABCB4 ALG2 TERT NDUFV2 TNNT2 PRKCSH HBG2 ERCC8 PHKG2 PEX6 SPINK1 ACVRL1 TNFSF11 IFT172 ATP8B1 LIPE TNFRSF13B PALLD HLA-B CDKN2A MPV17 FADD GCLC CTLA4 NLRP3 KRT18 NDUFB11 CYBC1 PRSS2 VPS33A CA2 HSD3B7 UGT1A1 MYD88 DOCK6 PEX1 AGL GYS2 DZIP1L MAN2B1 GPC4 TIMMDC1 NDUFAF8 NDUFB10 CLDN1 IL21R TMEM70 FASLG ASL PLAGL1 SMAD4 CYP7A1 LMNA CORIN SLC40A1 AP3D1 PEX1 AGGF1 RPGRIP1L LARS1 NOD2 ARVCF DLL4 BPGM RAG2 KIAA0586 INVS COG1 H19-ICR B9D1 FOXRED1 LRPPRC TGFB1 INPPL1 SKI TNFSF11 XIAP RBPJ VPS33B XPR1 HBG1 ABHD5 UBR1 TRIM28 NDUFAF4 FOS IL2RG NR1H4 HFE F5 CLCN7 FAS GNPTAB RNASEH2B GBA IGF2 TRAF3IP1 PPARG RFXAP UBE2T DHDDS MET GLRX5 VPS45 ATP8B1 APOE ANK1 PEX1 PEX16 PPARG SOS2 SLC2A1 TMEM216 ARSA HADHA CDKN2C NAGS PEX11B PEX6 PCCB TTC21B PEX14 PEX5 MYH9 CAV1 ATP8B1 SPIB PRF1 PEX19 RFC2 ERCC4 IL2RG REST MMAA PEX12 KRT16 CLCN7 NCF2 BBS10 SRP54 IDUA MCCC1 STEAP3 STN1 NSD2 ERCC4 ACOX1 PCK2 BBS9 SDHA LMNA GALK1 NLRP1 SCNN1G BBS2 TCIRG1 PEX6 XK BCS1L CASR SLC25A15 FUCA1 SKIV2L GLB1 JMJD1C COA3 G6PC FERMT3 GNAS HBB STAT6 NEUROD1 LZTFL1 PEX5 TNFRSF13C SCYL1 PKD2 SPTB UCP2 TRIP13 PSAP DNAJB11 BRCA2 NELFA SLC25A13 TBX1 CTRC JAK3 CTNNB1 MYPN IDS SBDS LMNA ITCH BRCA1 PCSK1 CSPP1 WDR35 CCDC115 DPM1 CYBB IDUA HOXD13 TCTN2 CR2 GAA FECH ALMS1 ETFDH JAK2 CARS2 BMP2 ELN GNMT HJV PNPLA6 MKKS AHCY SMPD1 NDUFAF2 COX15 PLEKHM1 GATA6 KCNQ1OT1 LMNB2 RNU4ATAC RMRP ABCB4 DDRGK1 PIK3C2A CAV1 RNASEH2C TMEM67 POLR3A CPT2 IL17RA SF3B1 TRNW TBX1 CPT1A HNF4A MMEL1 DCLRE1C PSMB4 JAK2 CIITA TET2 ARL6 POMC ALG6 TRAF3IP1 PIGS CEP290 STOX1 COX20 IRF5 TMEM67 USP9X INTU GBA NGLY1 MFN2 SPECC1L SEC24C BSCL2 TRMU IARS1 CTNS PEX3 COG2 FAS SLC2A1 H19-ICR TMEM107 HAMP SAR1B FGFR2 HADHB HNF1B PEX2 TRMT10C XYLT1 SLC25A4 FLNC SON TNFRSF1B GPC3 ACADM RAG1 TNFRSF1B CEP120 TTC8 FANCE GBA CYBA CBL UGT1A1 SDHB TERT NPHP3 SCO1 NDUFAF5 HNRNPA1 NOTCH2 MET TMEM67 SPTB PGM1 G6PC3 PEX19 SLC25A13 NOP10 MPI IFT80 SEC63 RFWD3 PDGFRA SPRTN TRNE IGF2R SCNN1A ALG11 CD19 PPARG WDR35 TREX1 PARS2 CPT2 SLC39A4 HADHA LHX1 HBB IGHM TTC7A PET100 ABCA1 HNF4A CPA1 GNE SLC29A3 INSR COG8 HADH RFT1 PEX26 SCARB2 HFE DYNC2I1 GNS APOB PEX5 ACVRL1 SLC25A20 CD19 RRM2B TUFM BSCL2 DCTN4 ABCB11 PEX10 BLK BLVRA CYC1 FANCF HNF1B SAMHD1 PEX26 IFT140 AKR1D1 FGFR2 CFTR CC2D2A BRCA2 MAN2B1 ACOX1 NRAS CEP290 MYORG RFXAP CYP19A1 RHBDF2 HBA1 TTC37 CD28 MCM4 CCND1 FARSB FANCG NPC2 TF RERE NRXN1 IL7R TMEM67 PTRH2 MLXIPL KCNJ11 ALDOB LETM1 ATP6 CYP27A1 PEX12 PLIN1 FANCI RPGRIP1L SLC13A5 HBG2 ABCC8 IKZF1 PEX13 APOE PIGA ZAP70 ABCC2 NRAS NKX2-5 PNPLA2 APOC2 SPTA1 TFR2 KRIT1 NSMCE2 RTEL1 EWSR1 SLCO1B3 ATP6AP1 ND1 SLC11A2 SNX10 PEX26 ABHD5 CBL RPGRIP1L ETFA TNPO3 SLC29A3 NPHP3 PKD2 PEX2 ERCC4 TRNN FBP1 NEK8 LRRC8A IER3IP1 SHPK ACAD9 ADAMTSL2 ABCC8 SLC25A13 MRPS7 TRAF3IP2 RMND1 ADA CEP290 FAN1 FAM111B SLC4A1 LBR VPS33A TANGO2 NOTCH2 DYNC2H1 MLH1 TWNK PEX3 PKHD1 BICC1 RHAG PROP1 GNE ETFB ENG GANAB PEX14 INPP5E SC5D YARS2 RBCK1 GTF2I CD247 MVK CEP83 FLI1 LIPT1 GDF2 BMPER KIF23 ANKS6 CASP10 TSHB XRCC4 MMAB KCNN3 RASA2 CA2 ATP7B DNASE1L3 DHCR7 HJV B9D2 IFNGR1 RASGRP1 PEX6 ANTXR1 CIITA COG5 NPM1 SLC37A4 SLCO1B1 LDLRAP1 SLC25A19 POLG2 ALAS2 SLCO1B1 POU2AF1 DNAJC21 COX4I2 SKIV2L SOX10 SCYL1 MUC5B VPS13A MPL COX15 SLC25A13 WT1 HNF4A TP53 TKFC HEXB LMNA TWNK KLF1 VIPAS39 CYBA ABCG5 SRP54 PAX8 PTPN3 CD79B GATA2 TERC SERPINA1 LPL LONP1 KRT17 SRSF2 PTPN11 CYP27A1 KRAS IYD NCF2 NDUFAF1 FANCC FBXL4 GFM1 DLL4 PEX13 WHCR DNAJC19 NLRP3 GUCY2D TBL2 POLD1 HMBS SLC40A1 PEX14 TREX1 PEPD HBA1 TMPRSS6 RBM8A CEP19 AP1S1 PEX3 ACADVL CDKN1B IGF2 CD70 CEL DPM2 RFX6 DGUOK TCF3 ND2 TNFRSF1A CC2D2A CYBB PIK3R1 IL1RN NOP10 DNAJC21 HADHA LIPA TNFSF12 AP1B1 CDAN1 SDHA LYST BBIP1 NHP2 TMEM231 PEX16 PEX3 IL7R HPGD EIF2AK3 BTK ENG CD55 CASP8 IDUA TKT USB1 ZMPSTE24 KRT6B PTEN CLEC7A SMAD4 BTD KPTN RFX5 BCHE AMACR PEX14 TALDO1 DKC1 ALDOA JAM2 FECH GUSB AP3B1 TET2 JAK2 FUCA1 FDX2 KRAS
Protein Mutations 5
C282Y G20210A H63D I148M V617F
SNP 8
rs12979860 rs2281135 rs2294918 rs58542926 rs641738 rs73049 rs738409 rs8099917
HP:0012622: Chronic kidney disease
Genes 127
PAX2 NPHP4 JAG1 SEC61A1 WT1 TMEM231 SDCCAG8 IQCB1 BICC1 COL4A4 TMEM67 WT1 TSC2 FAN1 NPHP1 IFT172 TBC1D8B SGPL1 MAGI2 GANAB NPHP4 NPHP3 CLCN5 CEP83 OCRL MUC1 NEK8 KYNU GLIS2 NUP160 TRPC6 TTC21B COL4A3 PYGM DCDC2 GATA3 TMEM67 SH2B1 CFH INF2 SAA1 AHI1 PKD2 CEP164 CFHR5 DNAJB11 CTNS INVS ALDOB CLCN5 IFT140 CD151 LAGE3 AGXT TMEM126B PKD1 NUP85 RAD51C TP53RK CEP290 MMUT SLC7A7 FN1 CEP290 ANLN DSTYK GSN XPNPEP3 MYO1E COQ8B IFT43 COL4A3 NUP205 CLDN16 IQCB1 WDR19 WDR19 NUP107 TSC1 FLT1 NUP93 DZIP1L NUP107 LAMB2 CORIN TMEM67 NOD2 SPRY2 INVS ARHGDIA NPHS2 TRAF3IP1 WDR19 TTC21B STOX1 LAMB2 PLCE1 DGKE MAPKBP1 CEP290 APOL1 NPHP4 CTNS CLDN19 UMOD PUS3 PAX2 NUP133 SARS2 TRAF3IP1 NPHP3 WDR19 PKD2 APRT LZTFL1 BNC2 HNF1B COL4A5 ACTN4 IFT122 NPHP1 CLCN5 TPRKB NPHP1 REN OSGEP SOX18
Protein Mutations 1
C677T
SNP 4
rs2281135 rs2294918 rs35652124 rs738409