HP:0001397: Hepatic steatosis

Genes 141

ETFB BSCL2 ADK SLC25A13 ALMS1 SLC25A13 PGM1 CAV1 IARS1 LRPPRC TRAPPC11 PPARG CAVIN1 AGPAT2 DDOST PLIN1 ALDOB GABRD LMNA CAVIN1 ATP6AP2 LMNA ABCG5 CYP7A1 PMM2 NGLY1 PNPLA2 CIDEC RRM2B LIPE GPD1 LYRM4 POLG HNF1B TMEM199 ACADVL CPT1A TKFC LIPA DGUOK LMNB2 CPT2 ACADM PPARG CLPB ETFDH DNAJC19 APOB MPV17 SCO1 BSCL2 TRAPPC11 PNPLA2 PHKA2 HNRNPA2B1 SLC40A1 POLD1 NSMCE2 ACAD9 MCCC1 LARS1 PLIN1 CAV1 NDUFAF1 HSD17B4 SLC22A5 MPV17 FARSB POLG LDLRAP1 HADH FARSA BCS1L MRPS7 HNRNPA1 AKT2 CPT2 LMNA SLC25A13 CIDEC ALMS1 TRMU VCP LIPE FOS ACADM CYP19A1 PTRH2 POLR3A AGPAT2 DNAJC19 TARS2 NSMCE2 HNF4A PCK1 LDLR CARS2 FBP1 ATP7B CPT2 PRDM16 SLC40A1 MARS1 MRPL44 PCK2 ABHD5 BCS1L CBS APOE PPARG IARS1 BSCL2 TYMP EARS2 ATP6AP1 COX15 ABHD5 HADHA PHKG2 LMNA HADH RMND1 ACAD9 CPT2 ABCG8 TFAM COA8 ETFA RERE ACOX1 HADHB MTTP PCSK9 KCNAB2 CEP19 XRCC4 SKI VPS33A SAR1B LMNA RINT1

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 1801

SH2B1 SMARCB1 IGF2 RPS7 SLC34A1 WT1 TRNK B3GLCT MITF NDUFS4 ALG9 MME KAT6B OFD1 CEP164 CRB2 FREM1 NTRK1 ARVCF RPS15A ND1 WDR11 ANTXR1 RREB1 LETM1 GNA11 IFT172 NPHP3 MAFB MET ANTXR1 PEX11B PAX4 APOB ZIC3 STK11 BUB1B SNAI2 FLRT3 DYNC2H1 MCC CEP290 KCTD1 BRIP1 BRAF SEC24C FGFR3 TBC1D20 PEX13 SLC37A4 PIGA TSC1 FANCG FOXF1 NDUFV2 ADAMTSL1 ENPP1 EVC2 DLST CRB2 ADGRG2 COQ8B ACTN4 DNMT3A PC FLNB ITGA8 NOD2 EFEMP2 C8ORF37 WASHC5 KRAS XYLT1 CYB561 KMT2A BMPER CLCNKA PIGT PRKCD SUFU PTCH1 KIF14 CCR6 DNAJB11 HOXD13 IGF2 CLCN5 TRRAP PLAGL1 PALB2 RRM2B IFT27 INTS1 PEX19 MAP2K2 WT1 PPP1R15B AMMECR1 HNF4A ADA2 MED25 ERCC8 FANCL RAB23 ALDOB TKT VPS33A KIAA0753 HRAS NUP160 PIK3CA DLL4 F8 TBX15 MVK GALNT3 KIAA0753 PREPL SCO2 CAV1 PUF60 RYR1 CCBE1 ELP1 NLRP3 FANCF PIK3CA WDPCP APPL1 ND4 RPS19 PNKP IFT80 CPT1A PEX1 IGF2 FLI1 MBTPS2 DGKE IFT140 HOGA1 DSTYK PEX12 NPHP4 PRKCSH TCTN3 SOX10 TRNN NOTCH3 SLC5A2 DICER1 CFTR CCBE1 NDUFB11 SLC6A19 KYNU CD2AP NADSYN1 UMPS CDC42 HMBS ALG8 BRAF SC5D TMEM216 MCFD2 SCARB2 CREBBP TMEM107 PTPRO XPNPEP3 NOTCH2 ABCC6 PORCN CEP57 PEX10 PIK3R2 CEP41 RAD21 RERE FLNA CASK TCTN3 PTPN22 TRNS2 CDON EDNRB TIMMDC1 PPM1B STRA6 LRIG2 SIK1 RPS19 IL12A-AS1 CIT CDKN1B CCN2 TSC2 TRIM32 GPKOW ARL6 WDR73 TCTN2 PCSK9 CIT PHYH DSE PEX1 DHODH DYNC2H1 NSUN2 RET IFT80 FGFR3 MKS1 DYNC2LI1 NPHP3 WFS1 VHL POU6F2 EBP PMM2 COL4A3 MNX1 TP63 RPGRIP1L SLC29A3 THBD BAX CLCN5 RAG2 SPOP PGM3 MMUT FANCE TP53 SDR9C7 SHANK3 MYOD1 NDUFS6 TRNK ZEB2 AGTR1 GRHPR ATRX ENG CCNQ SLC34A1 COLEC11 MDM2 SLC22A12 LAMC2 NPHS2 GREB1L IL17F VAMP7 MKKS FANCC PYGL BLK ZNF592 ITGA3 CAMKMT PIGL MKS1 COQ2 ATP7B RNU4ATAC TASP1 SAA1 TBC1D24 TTC37 LTBP4 IL17RA MCTP2 ATN1 NPHP1 TAF13 PDGFRB PUF60 NDUFAF6 FOXI1 SLC4A1 IQSEC2 SDHB APC GLMN HYMAI TMEM216 CISD2 BUB1B GDF2 BUB1B TNXB NDUFA1 RAD54B NEU1 BSCL2 NPHS1 CDKN1B KANK2 AURKA PRKAR1A APRT YWHAE FLCN COX3 IFT43 CC2D2A USF3 FGFR2 TREX1 ACVRL1 FLNA CC2D2A ZFPM2 XDH WAC ITGA6 STRA6 NDUFAF3 IL17RD FANCB ANLN SLC1A1 ROBO2 ETFB RNU4ATAC SIX5 GLI2 CLCNKB OGG1 PAX6 CCDC141 SLC2A2 RPL31 FH RPGRIP1L AQP2 HNF1A COL4A1 SIX1 ABCC8 BRCA2 BSND NDUFAF2 CCDC22 COL4A3 PTCH1 CFI STAT3 TMEM67 C1QBP COQ6 TREX1 ARMC5 SLC26A1 KAT6B MEFV GNA11 HOGA1 TMEM126B IRAK1 REN FUT8 PEX12 PLCD1 GP1BB MDH2 HNRNPK FREM2 PIGY SLC34A3 MAX NSDHL SERPINH1 EYA1 HSPA9 PROK2 SETD2 SLITRK6 SMARCD1 TELO2 F10 DZIP1L SOX17 PDGFRL NUP107 TP53RK CDC73 RIPK4 BCS1L TSR2 PYCR2 BMPER CTNS PML LAGE3 CPT2 SOX9 TMEM67 CHD7 CEP290 FH SDCCAG8 ATRX FOXC2 RBM10 GDF6 MAP3K1 CC2D2A BBS12 MDM2 CASR RFWD3 OPLAH VHL H19 SDHD SLC12A1 NUP133 WFS1 GPC3 ALG9 NUP93 CYP11B2 FANCB IL2RG OSTM1 SLC17A5 ABCG8 ETFA TMEM231 ROR2 GP1BA SMAD4 KDM6A CDK5RAP2 HPSE2 INVS LEMD3 MYLK NXN UBR1 PGAM2 NODAL ND6 CSPP1 BBIP1 DHCR7 GSN KCNJ5 ARID2 BBS1 ASXL1 FGFR1 ARX NDUFAF3 TBX18 HNF4A GPC4 RAB3GAP2 GRHPR DNA2 AGT CACNA1S TMEM231 SOX4 NFIA CEP63 FGFR2 BCOR BBS10 CD81 FUZ TMEM67 OCRL CRTAP PEX13 B3GLCT ABCC6 TRIP13 ABCC8 BMP4 CPLANE1 CYBC1 ELN FANCD2 NPHP1 REST ACE CLEC7A RTL1 GP1BB TP53 GLI3 FRAS1 DIS3L2 PMM2 INSL3 WT1 TGM1 CCNQ PTEN ARID1B AGGF1 NPHP1 ARL3 NDUFAF5 SLX4 RPL27 SEC23B UMOD PPOX KRT17 SLC3A1 CA2 CC2D2A AP2S1 CEP83 STAT5B WNT4 CREBBP FAM20C SOX9 BBS4 SLC7A7 BCS1L GCM2 CD46 DIS3L2 KNSTRN GRIP1 FANCD2 PTPN22 COL4A4 TMEM67 KIF14 IL7R GPC4 H19-ICR SMARCAL1 RMND1 PUS3 G6PC3 MARS1 CEP290 NDUFB10 FREM2 PEX26 TPRKB SPRY4 PEX19 CLDN19 ENPP1 MED25 NCAPG2 SEMA3E IQCB1 PRTN3 ARID1A XYLT2 C1QB HPSE2 GP1BB TRNS1 FCGR2B SDHD NRIP1 SALL4 SI MOCS1 DSTYK NADK2 FANCI ZAP70 ALDOB LMNA ND2 ALOX12B ND5 C3 TMEM260 BBIP1 USP8 DPH1 USP8 MASP1 SALL4 PEX3 IL6 C4A TRNQ COLEC10 GCK RAI1 GATM SON AGXT SBDS TBC1D24 PEX1 CHRM3 DMXL2 NPHP3 TRNE PRMT7 KIF14 SMARCA4 DHCR7 MMACHC KITLG KIAA0586 SDHB TRIM32 AMER1 GBA SPP1 KIF7 MKKS PTPN22 FOXP3 FGFR2 AKT1 SDHB TRNF TMEM138 SDCCAG8 CDKN1C CDC73 IFT43 KANSL1 HBB COL4A1 SLC4A1 FN1 ACP5 FANCB AFF4 SDHB ZFP57 CLDN10 TMEM231 OFD1 KLHL7 NPHP4 PTPN11 RPL26 COG1 PHGDH ACTG1 KDM6A CDC73 STRADA PTPN12 NUP133 MLH3 FBLN5 MSH6 LAMB2 TMEM107 PEX16 NIPBL HABP2 CD109 TRNL1 CHD7 PRODH SLC37A4 CFI LRP2 PHF21A NPHP4 ZIC2 SOX18 FAM20A DYNC2LI1 COL14A1 INSR CDKN2C PIGN ND2 ADAT3 WWOX EIF2AK3 CPOX RPS17 APC2 DHX37 NSMF GLIS2 TBX1 NSD1 PIEZO2 LMNB2 DYNC2I1 CREBBP TMEM237 PDE6D TMEM231 TBX1 ATRX PGAP3 IL10 MLH1 MAGED2 GCK EHMT1 CTNS SDHD PRCC FLNB STRADA FOXP1 BCOR TMCO1 NDUFS1 PPP2R3C APOE PEX5 PDHA1 FH CLCNKB BBS1 MYH9 SLC2A9 MYO1E FAM149B1 CCND1 ALG8 HESX1 AVPR2 TGIF1 NEUROD2 MBTPS2 TRAF3IP2 TBX1 TRIM28 WDPCP KISS1R SSR4 PIGP HNRNPU TRNS1 CEP152 CCND1 STIL HAAO MAP2K1 MKKS LMAN1 SC5D ADCY10 AFF4 TFAP2A IL23R COX2 COQ2 FBXW11 OFD1 INS TSC2 RAI1 MYH11 ITPR3 PROKR2 GBE1 FGF10 PLA2G2A AMMECR1 ATP1A1 LMNA POGZ ENPP1 TCTN3 WDR62 CLCN5 GLI3 SREBF1 ITGA2B SMARCE1 ALMS1 GCM2 POU3F4 SEMA3A FGA RPGRIP1L H19-ICR LIPT2 CFH CDKN1C SDHA CACNA1D WAS CASR GNB1 LAGE3 F2 MOCS2 EHMT1 DYRK1A FAS WDR35 HPS1 G6PC1 CCDC28B GTF2I SCN2A GPC3 PDE6D TPRKB ATP6V0A4 DMRT3 APOA1 SMARCAL1 NEK8 IFIH1 TMEM127 KCNJ11 CLPB EP300 OSGEP SETD5 AHI1 CSPP1 CCR1 UQCC2 MINPP1 PLEC POR OFD1 WNT4 WDR35 FAS MKS1 RAD51 DUSP6 TRNT1 MMUT HYLS1 MKKS NPHP1 XRCC2 NRAS VHL GREB1L ERAP1 ERCC6 INF2 SLC3A1 KEAP1 SLC25A22 PGK1 MYMK RFWD3 COL4A4 MBTPS2 CEP290 GPC4 ITGA8 HPRT1 CDKN1B KLRC4 C4A TRPC6 DNASE1 CA2 PREPL DICER1 PLCE1 MMP1 PROKR2 MLXIPL VIPAS39 PIGN STX3 HLA-DRB1 WDR19 TMEM237 ANOS1 MEG3 APOE GNAO1 HELLPAR FLCN WT1 GPR35 BAZ1B CDKN1A ALG1 WT1 GRIA3 MID1 GP1BA NIPAL4 AKT1 KCNAB2 CENPJ CTNS CEL TRNL1 LCAT KMT2D FIBP UBR1 KCNA1 FEZF1 COL7A1 HSPG2 IARS1 TFE3 GTF2IRD1 PIGY CDK6 SPINK5 SOX9 PGAP2 PUF60 STAG1 CCND2 FANCM CTNS NOTCH2 PACS1 NELFA NAA10 KCNJ11 PIK3C2A GLI1 PAX2 FXYD2 PIK3CD HNF1B USP9X TCF4 WDR35 SHPK HLA-DPA1 SETBP1 WT1 CEP164 PIEZO2 SLC30A9 CYP27A1 ARHGDIA WAS NLRP3 TP63 TBX3 NF1 RARA RPL26 TREX1 DDX59 KLF11 LMNB2 COL3A1 CD96 ERCC8 HLA-DPB1 GLIS3 PEX2 CFHR1 BRF1 LIPN SLC25A20 DICER1 HRAS CASP10 TSC1 SIX5 NIPBL NEUROD1 WDR19 CEP290 ATP7A TRNW B4GAT1 GDNF CTLA4 EPAS1 ADAMTS3 SPECC1L BLM PKD2 PPP3CA TTC21B PKD2 PDX1 NPHP1 FKTN ADA2 KCNJ1 FGFR1 POU6F2 CFI SNRPB MYOCD GATA4 TMEM70 FLNA STAT2 ARL6IP6 FAH PYGM RASA1 NEK1 FAN1 NR0B1 LIG4 NF1 NF1 UMOD SLC7A9 RPL35 SRY SDHAF2 FAS TAPT1 TMEM216 SDHD ZNF687 SLC35A2 SLC4A4 MSH2 CTLA4 DZIP1L ESCO2 FOXE1 LRP5 TRIM37 EXT2 ITGA2B KIF1B KMT2A ITGB3 STXBP1 SLC9A3R1 PAX1 BBS9 SERPINF2 ATP6V1B1 SPRY2 STAT1 FGF8 ELP1 SCNN1A SNRPN RMRP LMX1B MAX LRIG2 GATA3 KCNJ10 LDHA CYP4F22 ERCC8 MEFV WT1 WT1 NDUFAF8 CCND1 KCNQ1OT1 FANCC SKIV2L PHEX FANCI NRAS SDHC LDLRAP1 PEX6 SALL4 SLC36A2 TRIM28 MFSD2A TBX22 PIGV ALMS1 FGF8 CPLANE1 GPC3 WNT5A B9D1 MAFB DHDDS DACT1 MDM2 LEMD3 FGF20 BBS7 DDX6 PQBP1 HNF4A LDLR DVL1 DNASE1L3 RASGRP1 CHD7 CCDC141 FANCA TRAPPC14 DMP1 PCK2 KLLN B9D1 IARS1 KNL1 HNF1A GAS1 KCNQ1OT1 MGME1 TTC21B HIC1 APC CWC27 IL12A PTPRJ MMUT CHRM3 CLDN16 SF3B4 PEX7 IL17RC CFB COL4A5 LYZ SLC26A4 CD96 CILK1 ACP5 DNAJC21 MYCN BRAF DDX59 PAH WRN RBM8A NDUFB9 RPS26 PIGA CDH23 SCARB2 HPRT1 PIGL PEX10 WDR73 MSH3 C1QA JAK1 RET RAI1 SULT2B1 JMJD1C BUB1 PALB2 COQ7 OCLN GEMIN4 ETFDH TBX1 WDR19 PIGT ZAP70 IFT172 FKRP CORIN PTPN22 HPRT1 GCDH LIMK1 HMGA2 ASPM KRAS FGF23 EP300 SPART BRCA2 NDUFA6 CDC42 CDKL5 RPS10 RPGRIP1L NDUFS2 PIGO STAT4 MAP3K7 VAC14 PKHD1 ND3 TMEM216 RBBP8 CD151 GNB1 SOX10 BRCA2 ARX ZMIZ1 NUP107 WDR4 HNRNPK RAF1 FASLG ATRX TNXB SMARCC2 CFH DEAF1 C3 TXNL4A INTU STAT3 PLG ESCO2 LONP1 TMEM126B PIGV BCOR TMEM127 LPIN2 KYNU NUP205 SLC12A3 ADA SETBP1 CFH FIBP HLA-B HDAC4 SLX4 TSC1 PIGQ RECQL4 LEMD3 TBC1D8B PKDCC FGFR2 RPS26 MEFV NEK8 GABRD IRF2BP2 EHMT1 ABCG5 TRIM8 DCC WNT4 RPL5 WNT4 RPS27 SURF1 TFAP2A RPS24 VPS33B RPL35A RET UFD1 SHH HNF1B APRT HNF4A DHX16 NOTCH2 UBE2T SRP54 SCNN1B DKC1 SHANK3 BBS5 SF3B4 LAMB3 SMS ERCC6 KCNQ1 GLI3 SLC6A20 KANSL1 EIF2AK3 RAB18 FBN1 ARL6 BBS4 FGFR1 YAP1 RAI1 NDUFS2 SALL1 STXBP1 CPT1A ZEB2 SMC1A NDUFAF4 ERCC4 ERBB3 INPP5E SIX3 OCRL CTU2 ADCY10 CENPF AR CDC73 SMC3 PDX1 FLNA GATA1 DIS3L2 WDR19 APOL1 INF2 HLA-DRB1 CPT2 DPH1 DLC1 CEP290 H19-ICR SARS2 MTRR TCN2 HDAC8 TBL1XR1 EYA1 BUB3 RAD51C AQP2 ITGB3 NSD1 SLC6A17 TRIP13 FAM20A KMT2C AIRE NARS2 LIG4 AMMECR1 POLE BBS2 REN ABCC8 FANCA IGF2 VHL EXTL3 KCNE5 COMT KAT6A AIP KCNJ10 TP53 PDSS2 LARGE1 FCGR2A CYTB SALL1 CLDN19 BTNL2 WNT3 CYP24A1 LHX1 ALOXE3 PIGN VHL BAP1 VDR PAFAH1B1 HGD FN1 FAT4 YY1AP1 NPM1 ZBTB16 FREM1 EPG5 INSR ERCC6 MCM5 ARID1B OSGEP CDKN2A LAMA3 ANKLE2 SPECC1L IKZF1 SHH RORA LMNA YY1 PIK3C2A AKT1 LMBRD1 IFT172 PDSS2 IFT140 LZTFL1 COPA MYO5B SRY SNRPB SEC63 PTEN DYNC2I1 CTNNB1 CASR SCNN1G ZNF423 RAD51C DLL1 PRDX1 SDHB ABCA12 MUC1 REST KYNU TTC8 CLIP2 H19 PKD1 RSPO2 HIRA DYNC2LI1 GNAS IRF5 LMX1B MEN1 COX1 HSD17B4 PEX3 ELN CEP135 TMEM67 MYD88 CLCNKB BUB1 RPL11 PORCN ACTB CFHR5 SOX11 FOXP3 H19 WDR19 USP9X ND4 SDCCAG8 PKHD1 TTR SON KLLN MAFB RPL11 CHEK2 SCNN1B PAX2 HNF1B PCK1 IFT122 AKT3 PTPN11 MEOX1 CPT2 ARL6 PEX2 MRPS22 FAT4 TTC37 DACT1 WT1 TDGF1 GLA RPL15 NF1 DYNC2I2 CHST14 TRNV MEN1 FLNA SLC12A3 TMEM67 OCRL BBS10 MAGI2 CASR NDUFA11 NDUFS3 GSN ALDH18A1 ARX MEFV NOD2 SERPINA1 FRAS1 MYCN NBN TRNH AAGAB RAG1 RNF139 CEP55 AGXT NUP85 FGF17 SASS6 SLC7A7 UMOD RARB JAM3 ND1 KMT2D TBCK WDR73 NPHP3 FOXRED1 MICOS13 CSPP1 TMEM216 CASP10 DCHS1 GATA3 DLK1 DCHS1 ZEB2 CHN1 PIK3R2 RPL18 CHRNA3 PGK1 KCNH1 EYA1 LMOD1 FGFR3 PHC1 ADA FIG4 XRCC4 TLR2 FLNA KCTD1 ND3 TRAF3IP1 TTC21B SMO NUMA1 TMEM231 GLA FANCL FBXL4 GDF3 ROR2 NSD2 NUP107 HS6ST1 DPF2 ITGA2 CEP290 FLNA PKD1 CHD4 ZIC3 FLCN SLC3A1 ERCC4 CDK4 POLR3A AGPAT2 PIGW SMOC1 ACTG2 ND1 FOXH1 COG7 STS MOCOS PRKCD SLC34A1 BICC1 PEX7 NDUFAF3 GP9 DYNC2I2 RBM10 KCNJ11 DISP1 GANAB TACR3 VANGL1 NR5A1 TRIP11 TSC2 PEX14 WDR19 KANSL1 IFNG PHYH HNF1B HOXA13 RPS28 NLRP3 NABP1 B2M FLCN PLVAP DYRK1A ARNT2 RAD21 INVS HMOX1 ADAMTS13 MCPH1 AXIN2 LMX1B ITGB4 GBA ZNF423 CEP120 KIF1B CTH PIGL NDUFS8 NDUFB8 PBX1 TOR1A B9D2 TBL2 EVC SDCCAG8 FANCE WIPF1 CEP120 RFC2 NPHP3 CAD SGPL1 PAX7 BBS12 HNF1A NPHP1 WDR4 FLT1 TRNT PPP2R1A SURF1 B9D2 BRCA1 LRP4 CACNA1D SRCAP CDKN2B SIX1 LRP5 IQCB1 MAPKBP1 TRIP13 YAP1 MST1 ANKS6 SEMA3E MMACHC LPIN1 PRPS1 PIK3CA SMC1A WNT3 AVPR2 PLG TRAF3IP1 COG6 PRDM16 FGFR2 STOX1 LAMB2 C8ORF37 NDUFS7 TALDO1 NUBPL DYNC2H1 RPGRIP1 APC CLCN5 EXT2 ALX4 NDUFB3 NUP133 GPC3 HMGA2 LRP4 RERE MAD2L2 DCDC2 PNPLA6 SKI TMEM237 PIK3CA POR PGM3 DCC WT1 VHL PIK3CA TRNW POMT2 RTTN PLD1 F5 FOXF1 CHST14 SDHC DCLRE1C TLR4 WT1 RAB3GAP1 FANCB B3GALT6 SF3B4 HBB F8 FGFR3 ZNF148 ANOS1 COPB2 NDUFV1 ABCC6 PEX6 STAT4 LMX1B FAT4 HPRT1 METTL5 COX14 UBAC2 THOC6 PAX2 COL4A3 TTC8 SCN1B TMEM138 CHD7 RBM8A NCAPD3 CFHR3 PLCD1 POMT1 PRKCSH BNC2 ALPL SNAP29 BICC1 RECQL4 THOC6 TRNL1 PEX5 SRC CEP55 IFT27 PRPS1 JAG1 GDF6 EMP2 FIP1L1 TP53RK FLCN ND5 APC NDNF AVIL ACSL4 NPHS1 NAA10 ND6 EP300 LZTFL1 CTNNB1 PTH1R INPP5E MAP3K7 RPS29 DYNC2I2 ACTG2 ERCC4 DNASE1L3 NDUFAF1 C1QC SEC61A1 SLC25A11 GNAS RET FLII CPT2 ATP6 DHCR24 HSD11B2 WASHC5 COA8 TCTN2 GANAB TMEM67 CD46 VPS33A NEU1 PIGQ ITGB4 INS HLA-B

Protein Mutations 4

C282T C677T K55R Y93H

SNP 5

rs2281135 rs2294918 rs35652124 rs738409 rs7903146

HP:0000819: Diabetes mellitus

Genes 567

LHX1 BLK MERTK PROK2 UBR1 MTHFR MAGEL2 UBR1 NODAL ND6 NDUFS4 RETN TRNL1 MAGEL2 TRNK POLA1 GTF2IRD1 TRNC SLC7A14 RP1 HNF1A CTRC CAVIN1 BRAF RTL1 BBS1 FGFR1 PDE6A CNGB1 LIPE ZNF408 HNF1B TRNS2 GCK HNF4A SHH CTNNB1 BMP2 HYMAI DCAF17 PTF1A TOPORS CFTR KCNJ11 OCA2 SPINK1 ENPP1 AMACR MTNR1B ND1 TCF4 RBP3 ELMO2 PRSS1 SAG MAPK8IP1 PAX4 TP53 NDN FUZ DLL1 PROKR2 RTL1 PCNT SIM1 CLIP2 ABCC8 ELN KCTD1 PIK3R1 TTC7A IRS2 IGF1R GNAS EDA2R ABCC8 PIK3R1 OFD1 PLIN1 CNBP PEX10 COX1 ELN KLF11 SLC19A2 TULP1 LMNB2 PEX6 AKT2 NDUFV2 NDUFAF5 HFE GLIS3 SNRNP200 INS FOXP3 HMGA1 LIPE TRMT10A XRCC4 NEUROD1 HESX1 PTRH2 MTHFR PDE4D NSMCE2 GLRX5 HAMP HNF1B TRNW NPAP1 PPARG SUFU RP9 IFT88 IRS1 RHO PLAGL1 BLM TDGF1 PRSS1 AKT2 PDX1 TRNW ARL3 RPGR HNF4A GPD2 LMNA PDE6B USB1 MEG3 NDUFB10 SNORD115-1 ZNF513 DNAJC21 WFS1 XRCC4 SOX3 SLC25A4 IL2RA RLBP1 NDUFA11 MKRN3-AS1 PRKAR1A NDUFS3 HJV TKT FAM161A GCK LIG4 ROM1 GJA1 TRNS1 TRNH BLM COX1 SNRPN TTC8 PDE8B AGPAT2 TREX1 TINF2 LMNA AIP DCAF17 ND2 IFIH1 BRCA1 IDH3B DNM1L PDE4D GJB4 USP8 BEST1 PWRN1 GATA6 IPW RP2 ND1 GATA6 ARNT2 SLC19A2 APPL1 ND4 PDX1 FOXRED1 TRNF STAT1 INSR IMPDH1 GATA3 SLC2A2 DHDDS EIF2S3 IL6 CNOT1 HLA-DRB1 GPR101 PPARG TRNQ GCK RPE65 ATP6 SNRPN ZBTB20 CISD2 TRNS1 INS CAT SPATA7 RAC1 NDUFB11 HNF4A PALLD RNASEH2B TRNE XRCC4 NDUFAF8 ARHGEF18 STAT1 CYTB LIPC GCK EDA HBB MMP2 OCA2 ZFYVE26 FOXP3 TRNF KLHL7 ALMS1 CP SEMA4A USH2A FGF8 SBDS HBB CERKL INS CYP19A1 APPL1 RNASEH2A TRNS2 ZFP57 GJA1 CDON TIMMDC1 FGFR1 POLR3A AGPAT2 MAGEL2 HNF4A ZFP57 ND1 FOXH1 PRPF8 IARS1 SPINK1 PAX4 HNF1A NDUFAF3 GAS1 CDHR1 NPM1 STUB1 PWAR1 CPA1 KCNJ11 EYS HNF1A IL18BP DISP1 PDX1 VANGL1 CEP19 POLG2 CARS1 CLRN1 HNF1B NDN MKRN3 KCNJ11 BSCL2 OCA2 ZIC2 SRP54 CAV1 CFTR DHX38 IFT172 PPARG FXN WRN PLIN1 INSR WRN NDUFB9 WFS1 DLK1 MMP14 LEP PTPN1 ARL2BP PRCD EIF2AK3 CIDEC ITCH PRPH2 CDH23 NEK2 ATM PTRH2 TTPA SLC29A3 NDN NKX2-5 PDE11A NDUFS8 REEP6 AGBL5 ZMPSTE24 PROM1 NDUFS6 TRNK AEBP1 PRSS2 LEPR TBL2 BBS2 COL2A1 LRP6 GCK POC1A PDX1 CTNS CORIN PNPLA2 IFT140 PPP1R15B FOXP1 RFC2 CTRC NDUFS1 LMNA PTPN22 SNORD116-1 LEPR RNASEH2C RRM2B LIMK1 BLK NOTCH3 HMGA2 TWNK CNOT1 FLT1 NEUROD1 KCNJ11 ABCA4 IDH3A CDKN2A NDUFA6 KIZ ABCC8 ATM BRCA2 ND6 NDUFS2 LMNA ND3 IMPG2 MST1 TGIF1 PAX4 WFS1 KCNJ11 FXN NOP10 KDSR MEG3 OPA1 TRNQ TUB HYMAI CISD2 DNAJC3 STOX1 IL2RA NDUFS7 NDUFA1 NUBPL BSCL2 PEX1 COX2 SPINK1 PAX4 RTEL1 INS NDUFB3 COX3 CASR SMAD4 GCK ITPR3 SNRPN HBB POLG NDP OTX2 SLC12A3 TRNE PNPLA6 APOA5 LMNA GCK STAT3 POMGNT1 PDE6G WFS1 GLI2 CLCNKB ALMS1 AHI1 LEMD3 HNF1A BBS2 GJB3 ABCC8 TP53 ITCH RP1L1 PLAGL1 LMNA PALB2 NDUFAF2 CRB1 CNGA1 DMPK PPP1R3A PNPLA2 PTCH1 WRAP53 STAT3 SAMHD1 HYMAI NDUFV1 HGSNAT HNF1B HNF4A SLC29A3 ARMC5 CCDC28B KRAS GTF2I MAGEL2 TWNK HNF1A PRPF3 VANGL2 GUCA1B TMEM126B EIF2AK3 TRNV TERT KCNJ11 PTF1A FBN1 IGF2BP2 ARL6 COX2 HFE AIP NR2E3 PCARE MAK KCNJ11 HLA-DQB1 ABCC8 NDN PLCD1 NDUFAF4 POLD1 CEL VANGL2 NSMCE2 PSTPIP1 SOX2 SIX3 ND5 TCF7L2 NEUROG3 MKKS CAV1 SMPD4 SLC16A2 PDX1 FSCN2 PRKACA CA4 MC4R TRNL1 PRKACA CTC1 ADA2 PRSS2 SNRPN RGR AHR DMXL2 PRPF4 KLF11 ADAR SARS2 MOG MEN1 HERC2 CP ND5 INSR LRAT MAFA EFL1 HNF1A TERC FOXC2 SCAPER FOS CRX DLK1 KIAA1549 MAGEL2 MLXIPL DNAJC3 PRPF31 AIRE PRPF6 PARN DKC1 NEUROD1 APOE PPARG WFS1 ABCC8 LRBA AR NRL NHP2 GPR35 BAZ1B RDH12 ERGIC1 ARL6 NDUFAF1 SLC30A8 PDX1 COX3 ABCC8 INS C8ORF37 IER3IP1 PRKAR1A KCNJ11 CEL INS TRNL1

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 1400

TNFSF11 UBR1 TRNK B3GLCT PEX3 NDUFS4 SCYL1 TREX1 CASP8 IARS1 SLC25A13 TRAPPC11 ABCC2 ALG9 GTF2IRD1 CAVIN1 EPB41 CD247 RASA2 APC NHLRC2 PEX3 TSHR NGLY1 ARVCF FANCM UCP2 ND1 ANTXR1 SDHD NELFA RREB1 NLRP3 HPGD CD70 LETM1 KIF3B IFT172 NPHP3 ARSA ASS1 TCF4 WDR35 SHPK RFX6 PSAP PEX11B PEX6 ERCC4 PAX4 SETBP1 HBB APOB RIT1 CEP164 ZAP70 ZIC3 STK11 STN1 GPC1 CYP27A1 GNPTAB DYNC2H1 PEX11B PDGFRL PEX1 PKLR GALK1 AP1S1 TTC7A BRIP1 TREX1 HSD3B7 PLIN1 FDX2 CD81 TNFRSF13B SEC24C POLG2 UROS KLF11 IL36RN PIK3CA CLDN1 SLC37A4 PIGA CD96 CYBA ERCC8 AKT2 FANCG FOXF1 TET2 NDUFV2 GLIS3 DLD PEX2 GNS AKT2 SLC25A20 RRAS2 CASP10 TNPO3 XRCC4 PC NEUROD1 WDR19 NOD2 CEP290 PTRH2 CCDC115 C8ORF37 CPOX SLC13A5 NSMCE2 HAMP VPS45 FBP1 SPTB PRKCD SPECC1L CBS DNAJB11 COG8 HOXD13 RNU4ATAC KMT2E PKD2 TTC21B PKD2 PDX1 NPHP1 AKR1D1 IFT27 CBL PHKG2 PEX19 USB1 NLRP3 SPTB TMEM70 PEX26 CR2 PEX12 SEC63 SPOP ACVRL1 FAH STX11 HNF4A SDHA NEK1 MADD ERCC8 PDGFB FANCL CPLX1 FAS ALDOB PSAP TCIRG1 CALR PEX16 ACADVL RINT1 FAN1 TET2 TKT RFX5 SLC2A1 VPS33A HMGCL MYRF RFT1 SLC4A1 XK NGLY1 DLL4 PCSK1 MSH2 C11ORF95 MVK MCM4 FLI1 AGPAT2 TINF2 ARSA IYD CFTR CR2 CASK ESCO2 LRP5 AGA TRIM37 MET NLRP3 SMPD1 KRT18 FANCF IGF2R NCKAP1L WDPCP GATA6 BBS9 LACC1 ACADVL APPL1 IFT80 CPT1A PEX1 IGF2 KIF20A STAT1 DLL4 PLEKHM1 RMRP KRAS IFT140 UQCRFS1 PEX12 HNF1A PRKCSH TRNN SCO1 BTK SLC25A15 MSH6 PEX13 ERCC8 BSCL2 SLC39A4 NDUFB11 RBCK1 HNRNPA2B1 PALLD RNASEH2B UGT1A1 NDUFAF8 SLC44A1 PSMB9 CCND1 AHCY ATPAF2 SMAD4 SKIV2L SNX10 HMBS TERT ALG8 ABCC8 SC5D TMEM216 NPC1 POMC FANCI FAS SLC22A5 SCARB2 HBB HFE LDLRAP1 HADH MMAA MYBPC3 PEX6 MET NOTCH2 PEX10 CTLA4 RPGRIP1L TRIM28 NPC2 SCYL1 ALMS1 CP VCP TUFM IDUA SBDS COG6 RFXAP GPC3 B9D1 TRHR DHDDS TTC7A PEX14 CYP19A1 INTU SLCO1B3 PTEN NLRP1 TIMMDC1 BBS7 DUOX2 HNF4A COG5 LDLR MMEL1 DNASE1L3 RASGRP1 FANCA DLD COG4 MARS1 PCK2 SOS1 KRT18 IARS1 ENG SCNN1B TYMP HNF1A DHFR GPI LPIN2 TGFB1 MAN2B1 KCNQ1OT1 TTC21B NPM1 NDUFS4 SLC2A1 HNF1A TSHB IL18BP ANK1 CTLA4 MMUT PCSK9 CEP19 KLF1 POLG2 IL21R APC IRF5 IL17RC SAR1B TERT PIGM PEX1 ERBB3 LYZ DYNC2H1 ATAD3A DNAJC21 CTNNB1 MPI PEX14 CFTR PSAP IFT80 RHBDF2 PPARG RTL1 TGFB1 MKS1 DDOST HBA2 TRNE TSFM NDUFB9 NPHP3 EWSR1 GCGR POU6F2 PLPBP PMM2 IDUA SFTPA2 IRAK4 APC HBG2 SLC29A3 RAG2 PEX10 JAK1 GBA MMUT JMJD1C SLC30A10 CPT2 NDUFS6 PALB2 GALT OCLN ETFDH TBX1 WDR19 FLNC NCF4 FASLG COX4I2 IFT172 RFXANK PEX12 PIEZO1 EPB41 BCS1L GBA CORIN ENG SPTA1 PTPN3 PHKB AGA RAG2 TPI1 FECH ALAS2 IL17F MADD MKKS FANCC PYGL LIMK1 PEPD BLK AMACR MCCC1 TWNK MKS1 CNOT1 APC ATP7B NCF1 CD3D NDUFAF1 IL2RB RNU4ATAC CDKN2A NDUFA6 SAA1 FARSA PMS1 IL7R RNASEH2A FAH GAA ABCB11 BRCA2 NDUFS2 TTC37 LMNA SPTA1 PKHD1 ND3 IL17RA KRAS TMEM216 KLF1 IGLL1 BRCA2 DPAGT1 SPTB IGHM PEX16 FASLG PEX10 SOX10 SLC39A8 FAM111B DNAJC19 GDF2 INSR HLA-DRB1 MRPL44 PEX13 NDUFA1 CYBB NEU1 CD3E BSCL2 ATP6AP1 MLH1 PTPRC BCHE TNNI3 GPIHBP1 SNX10 KRT8 PTPN11 CC2D2A FBP1 ACAD9 GNPTAB IDUA CTSK XPR1 ACVRL1 TFAM CYBB TFR2 POLG HADHB MTTP NRAS ARSA LPIN2 CC2D2A CLCN7 DOLK NEU1 ADA SETBP1 FANCB STAT3 ABCB4 PEX6 PEX2 PEX10 ETFB SFTPC SLX4 TSC1 SLC25A13 PGM1 A2ML1 RPGRIP1L PHKG2 HMBS MEFV GABRD ITCH BRCA2 SEMA4A PLAGL1 TRMT5 PALB2 NDUFAF2 ASXL1 ABCG5 DMPK USP18 VPS33B TMEM67 UFD1 HYMAI C1QBP AXIN1 TREX1 HNF1B HNF4A ASAH1 SLC29A3 NOTCH2 UBE2T SRP54 GBA DKC1 JAK2 TSHR TCIRG1 BBS5 POLG2 ERCC6 MMAB HBB NFKB1 IL1RN KCNQ1 TMEM126B ACADM EIF2AK3 ABCB4 DNAJC19 TALDO1 ARL6 PEX12 AP1S1 STEAP3 UNC13D PEX5 HADHA HFE SP110 NFKB2 TRAPPC11 PHKA2 ANK1 IDS CPT1A RNF43 PCCB NDUFAF4 SETD2 KCNN4 ERCC4 CTLA4 INPP5E HMGCS2 DZIP1L NEUROG3 PEX16 JAM2 COG1 POU2AF1 PEX19 DIS3L2 CD28 POLG PEX5 RHAG ADA2 BPGM UROD BCS1L RBPJ WDR19 MRPS7 HNRNPA1 BMPER CPT2 H19-ICR SLC25A13 ADAR TMEM67 MTRR GYPC MLH3 HBA2 GFM1 EFL1 TERC DDRGK1 FOS BOLA3 TF GLB1 MEG3 BBS12 DPM1 AIRE LIG4 PARN HSD3B7 ATP7B PIGS TPO BBS2 PEX11B TRIM37 GLB1 PPARG DCLRE1C SCNN1A UQCRB GPC3 CYP7B1 ALG9 NHP2 IGF2 EXTL3 MAN2B1 COMT PRKCD BLNK MYORG IL2RG OSTM1 IL7R SLC17A5 GCLC ABCG8 SMPD1 APC ETFA RHAG WT1 SPRTN LIPA RAB27A RAG2 SDHC IER3IP1 NR1H4 SMAD4 CYTB BTNL2 ADAMTSL2 INVS GDF2 PSMB4 CLCN7 FGFR2 GNE PEX6 ARHGAP31 JAK2 MS4A1 GNE G6PD BBIP1 DHCR7 MPI TINF2 INSR ERCC6 CAVIN1 ATP6AP2 LBR BBS1 IFNG KIT RRM2B LIPE HNF4A LMNA JAK3 BMP2 ABCG8 PIK3C2A LMBRD1 IFT172 PEX3 NBAS IFT140 BTK AMACR HBG1 CTBP1 LZTFL1 BTNL2 PEPD KCNJ11 GALT GAA SNX14 MFN2 SEC63 MYC ERCC6 DYNC2I1 TP53 CASR NKX2-5 BBS10 RAD51C NAB2 MPV17 TMEM67 GALE PSAP PEX13 REST TGFBR2 PRPS1 PLEKHM1 TTC8 CLIP2 ABCC8 H19 CYBC1 ELN RAG1 PKD1 NPHP1 EPB42 CLEC7A HIRA GP1BB DYNC2LI1 TCIRG1 CYP27A1 SLC26A4 PMM2 FERMT3 HSD17B4 PEX3 ELN FUCA1 EXTL3 HJV TMEM67 MYD88 AGGF1 ARSB MOGS RIPK1 KCNN4 NDUFAF5 HFE NOTCH1 PMS2 DUOXA2 FOXP3 WDR19 USP9X TRMU ND4 SDCCAG8 AP3B1 CBL APOC2 LPL CD28 PKHD1 SON LIPE PPOX TCF3 SUMF1 CA2 HESX1 CC2D2A PDGFRB CEP83 STXBP2 TARS2 GLRX5 HNF1B PCK1 IFT122 TET2 SLC40A1 BBS4 SLC7A7 ARL6 ABHD5 BCS1L STK11 PEX2 PCCA TTC37 DOCK6 DAXX INPPL1 DIS3L2 KRAS TNFRSF13C PRSS1 AP1B1 HSD17B10 SF3B1 SLC25A19 TERT DYNC2I2 TNFRSF1B FANCD2 SLC30A10 IL7R LMNA AGL GPC4 FECH H19-ICR TRNV NAGA RMND1 CIITA KIT GBA G6PC3 CEP290 PEX26 GUCY2D NDUFB10 TRMU TJP2 TMEM67 DNAJC21 PEX26 IL12RB1 SH2D1A XRCC4 SLC25A4 IDUA IL2RA ARG1 PEX19 NDUFA11 NDUFS3 MED25 GBA SLC35C1 HJV IQCB1 MRPL3 SP110 EPB42 VPS13A NAGA SERPINA1 NHP2 SLC4A1 ATP8B1 LIG4 ADK SLC25A20 RAG1 CEP55 RRAS SLC22A5 SKIV2L CLDN1 PSAP TREX1 ZAP70 ALDOB LMNA GATA2 ND2 ND5 IFIH1 IFNGR1 BRCA1 SLC7A7 NDUFS7 FGFRL1 APOE GATA6 JAM3 GCDH UGT1A1 CBS AP3D1 SOS2 ABCA1 NPHP3 TKFC FOXRED1 LIPA PEX3 CSPP1 ACAT1 PCCB CASP10 ALDH7A1 TNFRSF13C FADD BLVRA PPARG GCK KPTN MECP2 LBR AP1B1 PCCA SBDS KCNH1 SLCO1B3 MRAS MRPS28 TNFSF11 CYP7B1 DCDC2 PDGFRA PEX1 SLC25A15 NPHP3 ADA SLC20A2 LIPA PRF1 ND3 TRAF3IP1 ACAD9 GBA SLC4A1 GBA JAK2 TNFRSF11A SUMF1 GUSB CD40LG MSH2 DHCR7 LARS1 MMACHC F5 MIF GUSB ABCC2 NSD2 TRIM32 GBA LBR NCF2 MAN2B1 CEP290 FOXP3 RAC2 PKD1 TNFSF15 RELA SDHA TPP2 SDCCAG8 CIDEC RAG1 STAT6 CDKN1C IFT43 HAVCR2 HMGCL HBB SLC4A1 ACP5 XIAP RNASEH2A IL2RG ATP7A SPTB POLR3A AGPAT2 BTK CARS2 ALG13 ERCC1 ATRX TMEM231 ND1 COG7 IDUA MUC5B COG4 PRKCD NPHP4 LRRC8A RMRP SPINK1 PIEZO1 MPC1 EARS2 ABHD5 NDUFAF3 LCAT PSAP ABCA1 ABCD3 C1S CPA1 KCNJ11 LONP1 CTCF GANAB MSH6 TSC2 PEX14 DGUOK TNFSF12 TMEM107 PEX16 SLCO2A1 COG2 SDHB TRNL1 IDS CHD7 SLC37A4 BSCL2 DPM2 NAGS B2M ARSA CTNNB1 TNNT2 SRP54 CAV1 RPS20 SLCO1B1 DYNC2LI1 LYST PLIN1 CD19 HMOX1 APOA1 ADAMTS13 CCDC47 CYP7A1 ND2 SLC25A1 EIF2AK3 CPOX CPOX CIDEC ITCH APC2 SERPINA1 GPD1 PTRH2 LYRM4 GBA UGT1A1 APOE PFKM POLG TNFRSF1A SPIB CLCN7 YARS2 NSD1 NDUFS8 F5 KCNN3 LMNB2 DYNC2I1 RHAG GNMT HYOU1 TBX1 TNFSF12 EPCAM JAK2 PEX14 ATP8B1 TBL2 MLH1 AKR1D1 TBX19 ATP11C FANCE PDGFRA TGFB1 CTNS NCF2 PNPLA2 TNFRSF1B CEP120 DDRGK1 RFC2 FUCA1 SLCO1B1 PSTPIP1 NPHP3 SLC40A1 CTRC UGT1A1 NDUFS1 TMEM165 RNASEH2C NSD2 TRNW LHX3 FH RRM2B NOP10 PEX5 PEX19 IL12A IL6 FLT1 CD19 SURF1 LTBP3 SMPD1 BBS1 MPV17 B9D2 BRCA1 BSCL2 MPL PSMB8 DCTN4 KRIT1 CLCA4 CTSC LRP5 PROP1 ASL CLCN7 TRIP13 SLC25A19 FCGR2A MST1 ANKS6 ALDOA TRAF3IP2 TBX1 IDS SRSF2 TRIM28 WDPCP ALG8 CD79A PIK3R1 NOP10 TRNS1 TRAF3IP1 ALG2 RAF1 SCNN1G COG6 CD79B HEXB CTSA CPT2 PRDM16 STOX1 ASAH1 SC5D NDUFS7 HK1 TALDO1 NUBPL RPGRIP1 COX15 MAGT1 PAX8 ABCA1 STEAP3 HADHA TERC PHKA2 RTEL1 INS CYBA NDUFB3 PEX12 GPC3 HADH CASR SMAD4 RASGRP1 HBB CASR GBE1 RERE DMPK ICOS FADD MAD2L2 DCDC2 PNPLA6 SKI LMNA ABCB11 EOGT WT1 SEC23B TRNW ICOS RFX5 SLC25A13 ABCB4 GLB1 DCLRE1C ALMS1 NCF1 HBG2 CYBC1 CDAN1 FGA PARS2 LRPPRC RPGRIP1L IL2RG LHX4 KCNH1 TBX19 CDIN1 ACOX1 HBB TMPRSS6 TNFRSF13B LMNA TET2 HAMP NRAS PEX26 TP53 PNPLA2 POU1F1 WRAP53 FAS ABCG8 SAMHD1 WDR35 NDUFV1 ATP7A RFXAP TMEM199 G6PC1 PEX6 CCDC28B KRAS GTF2I DGUOK HGSNAT APOA1 NHP2 TG NEK8 IFIH1 TERT RUNX1 CLPB RNASEH2C ALG1 CIITA HADHA COX14 SLC11A2 RNU4ATAC OFD1 XYLT1 WDR35 EFL1 CD27 BMPR1A PEX2 RBM8A ATP8B1 MKS1 POLD1 NSMCE2 RAD51 POMC MMUT PRKCSH HBA1 CAV1 XRCC2 ITK VHL BICC1 RECQL4 AUH ERCC6 PKLR FARSB RAB27A NAGLU CTC1 PRSS2 PEX5 SLC5A5 LYST GBA JAG1 MYPN C4B LETM1 STX1A RFWD3 APC CFTR CEP290 WHCR GPC4 ICOS RFXANK CDKN1B ERCC8 HPD CA2 ND6 ACADM PRKAR1A MLXIPL VIPAS39 LZTR1 HLA-DRB1 MPL INPP5E PAX8 CD55 HLA-DRB1 MVK DKC1 DLK1 DYNC2I2 APOE KRT8 UGT1A1 POU1F1 SGSH GPR35 BAZ1B ERCC4 NDUFAF1 FBN1 RFT1 HBA1 WT1 TERC PIK3CA GNAS ATP6V1B2 PEX1 CPT2 ATP6 COA8 ACOX1 TCTN2 GANAB TMEM67 KCNAB2 VPS33A GALNS CEL PYGL NEU1 XIAP GALM BTD PRKAR1A FGFR2 MVK

Protein Mutations 5

C282Y G20210A H63D I148M V617F

SNP 8

rs12979860 rs2281135 rs2294918 rs58542926 rs641738 rs73049 rs738409 rs8099917

HP:0012622: Chronic kidney disease

Genes 146

IQCB1 SH2B1 WT1 NPHP4 TSC1 NUP160 COL7A1 AGXT SOX18 NUP85 DZIP1L INVS CFH TBC1D8B PKDCC MEFV NEK8 NPHP3 LAGE3 NTRK1 COL4A3 OSGEP CTNS GLIS2 CLCN5 SPRY2 PAX2 IFT172 DGKE IFT140 DSTYK NPHP4 AHI1 WDR19 CEP164 CHRNA3 GATA3 TMEM67 OCRL MUC1 KYNU PAX2 COL4A3 ARHGDIA CTNS CORIN NPHP3 NPHS2 PKD1 NPHP1 TRAF3IP1 SGPL1 GCDH TTC21B TMEM231 DZIP1L NPHP1 FLT1 MMUT WT1 BNC2 TP53RK NUP107 BICC1 SAA1 INF2 MYO1E XPNPEP3 NPHP1 APOL1 INF2 IQCB1 MAPKBP1 CEP290 JAG1 CFHR5 SARS2 WDR19 ALMS1 CD151 COL4A4 SDCCAG8 IFT43 CEP290 AVIL PKHD1 UMOD COQ8B NUP107 PPOX RAD51C FN1 TRPC6 ACTN4 ACP5 PLCE1 MMP1 NOD2 LZTFL1 NDUFAF6 CEP83 TRAF3IP1 HNF1B WDR19 IFT122 STOX1 PRKCD NPHP4 LAMB2 SLC7A7 CPT2 REN NUP133 DNAJB11 CLCN5 PKD2 PKD2 NUP93 CLCN5 APRT TTC21B TMEM67 SEC61A1 MYOCD TMEM126B PUS3 GANAB CEP290 PYGM LAMB2 TSC2 FAN1 TMEM67 WDR19 CLDN16 DCDC2 NUP205 TPRKB CTNS MAGI2 CLDN19 ALDOB GSN INVS ANLN COL4A5

Protein Mutations 1

C677T

SNP 4

rs2281135 rs2294918 rs35652124 rs738409