NLP SNP

To determine the prevalence, genetic and environmental determinants, and potential clinical, personal, and societal impact of iron overload and hereditary hemochromatosis, in a multi-center, multiethnic, primary care-based sample of 100,000 adults. The study is conducted by the Division of Epidemiology and Clinical Applications of the NHLBI, the Division of Blood Diseases and Resources of the NHLBI, and the Ethical, Legal, and Social Implications (ELSI) Research Program of the NHGRI.

NCT00005541 Blood Disease Hemochromatosis Iron Overload

MeSH: Iron Overload Hemochromatosis Hematologic Diseases

HPO: Abnormality of blood and blood-forming tissues

There are 2 SNPs

SNPs

1 C282Y

Evidence suggests that early diagnosis and treatment can prevent disease manifestations and enable normal life expectancy The discovery of the HFE C282Y and H63D variants in the HLA gene region on chromosome 6 provides an opportunity for early and rapid genetic identification of individuals at risk for development of hereditary hemochromatosis. --- C282Y ---

In order to obtain data on the prevalence of genetic factors in a routine care population, a random subgroup of approximately 20-40 percent of the 101,000 screenees will be genotyped for known variants, such as HFE C282Y and H63D, related to iron metabolism and overload. --- C282Y ---

2 H63D

Evidence suggests that early diagnosis and treatment can prevent disease manifestations and enable normal life expectancy The discovery of the HFE C282Y and H63D variants in the HLA gene region on chromosome 6 provides an opportunity for early and rapid genetic identification of individuals at risk for development of hereditary hemochromatosis. --- C282Y --- --- H63D ---

In order to obtain data on the prevalence of genetic factors in a routine care population, a random subgroup of approximately 20-40 percent of the 101,000 screenees will be genotyped for known variants, such as HFE C282Y and H63D, related to iron metabolism and overload. --- C282Y --- --- H63D ---

HPO Nodes

HPO:

Abnormality of blood and blood-forming tissues

Genes 1081

EPHB4 TACO1 GP6 TSR2 EPO EPOR RPL26 RPL27 GLRX5 ABCA1 SLC29A3 ERCC2 RPL35A ABCB7 ERCC3 BRIP1 LZTR1 ERCC4 ABL1 IRX5 RNF168 ERF ZMPSTE24 MAN2B1 MAP1B ACAT1 DNAJC19 MARS SLC35C1 MAT2A NT5C3A ACP2 MAX ACP5 NCF1 RPS7 ACTA2 RPS10 CD109 RPS14 RPS15A ACTC1 ETV6 TCIRG1 EVC MECOM RPS17 MCM4 RPS19 IKZF1 RPS20 ACTN4 EWSR1 TRAC CD46 EXT2 RPS24 ACTN1 RPS26 ACTN2 TMEM173 RPS27 EXTL3 ACVR1 RPS28 RPS29 MAGT1 RRAS ACVRL1 DTNBP1 MDH2 RREB1 MDM2 F2 ADA ADAR RS1 F5 F7 PICALM F8 KLRC4 F9 F10 F11 F12 MYSM1 F13A1 MEFV PHF21A F13B RYR1 STN1 TBC1D24 BAP1 FANCA FANCC FANCD2 FZD4 FANCE ACSL4 GFI1B FAH MET FANCB FANCF FANCG SAA1 SAMD9L MGAT2 FBN1 PANK2 OTULIN AEBP1 CIITA SC5D COG6 ARHGAP31 FKTN POMP FDX2 AGA RNASEH2C FECH SCN5A AGXT AHCY SCN9A SCN10A FGA MLF1 FGB MLH1 SCO1 AK1 AK2 AKT1 NOP10 ALAD ALAS2 FGFR2 HAX1 MMP1 FGG MAD2L2 FH ALDOA FHL2 DOCK6 ALDOB SLC30A10 SEC23B SDHA RAD54L SDHB SDHC SDHD ALPL FOXE3 MPI MPL MPO FOXN1 FLI1 FLNA KLF11 FLT3 FOXRED1 FMO3 LAMTOR2 HYOU1 ANK1 FN1 NEBL OSTM1 CISD2 RNASEH2A CTC1 MCFD2 PUF60 SGCD SGCG ACAD9 SH3GL1 PEX3 FERMT1 DOLK SLC35A1 SLC19A2 LARS APC ARFGEF2 ANKRD26 IKBKG AIRE BIRC3 XIAP NLRP1 DGKE APOA1 NPC2 APOB MSH2 CHD7 FASTKD2 TXNRD2 APOE APP FANCM AP3B1 FAS NHP2 FASLG TMEM127 TCAP COA8 TDP2 ABCC6 RBM20 SLC2A1 HPS3 PEX26 ARF1 SLC4A1 EPG5 CASK FAN1 MTFMT MSN WDR19 MST1 TRMU NBAS C1GALT1C1 HSD3B7 LIPT1 PIGT MLH3 TNFSF11 ACAD8 MTAP STS FAM111A SLC12A3 LAT COX1 COX2 UBE2T G6PC3 COX3 ARVCF KLF1 DYNC2LI1 MTHFD1 ASAH1 FARS2 MTOR ELMO2 SLC20A2 RFXANK TP63 SLCO2A1 HBB-LCR ANKRD1 ND1 ND4 NAXD ND5 ND6 ANKRD11 MTTP MTR PUS1 GATAD1 AGK MTRR SMARCD2 SERPINC1 FOXP1 TRNF CARD11 NDUFAF6 SMPD1 TRNH FUCA1 TRNL1 ATM HAMP TRNN TRNQ TRNS1 SLC4A4 TRNS2 OCLN FUT8 TRNW STX11 ERMARD FYB1 MUC1 SPATA5 PRDM16 G6PC G6PD LMBRD1 SLC37A4 SLX4 MMUT MVK SOS1 MYBPC3 SOS2 LYRM7 MYC MYD88 UBR1 ATP6V1A MYH6 ATP6V1E1 MYH7 MYH9 GALC MYH11 SPARC EOGT ATP6AP1 ATP7A ATP7B MYLK GALT ATR ATRX SPINK1 CHST14 TNFSF12 RTEL1 ERAP1 JAGN1 C15ORF41 TMEM165 ARHGAP26 SPTA1 SPTB B2M KIF1B SRC AKR1D1 GATA1 GATA2 GATA6 GBA CDH23 SRP54 NBN SRP72 UNC13D GCDH NCF2 NCF4 SLC46A1 CCND1 BCL2 GCK NDP NDUFA2 TNFRSF11A FTCD NDUFA4 GCNT2 BCL6 SSR4 CLPX PEX11B SLFN14 NDUFA9 NDUFA10 GDF2 COQ2 BCR ADA2 BCS1L NDUFB8 DPM1 NDUFS1 GFI1 NDUFS2 MMADHC NDUFS3 NDUFV1 NAGS NDUFS4 STAT1 GGCX STAT3 STAT4 NDUFS8 NDUFV2 STAT5B B4GALT1 NOD2 BLK BLM STIM1 NUTM1 STK4 CBLIF IFIH1 CDAN1 STK11 MALT1 BMPR1A ZNF469 BMPR2 NEU1 NEUROD1 NF1 BPGM GLA STXBP2 NDUFA12 BRCA1 GLB1 TMTC3 BRAF BRCA2 GCLC CARD9 SGPL1 GLI1 NFIX ABCC8 SURF1 NBEAL2 NFKB1 BTK NFKB2 MYPN BUB1 A4GALT CYP26C1 BUB1B VPS13A PACS2 C1R C1S C2 GNA11 C4A BCL10 ADAM17 CAPN5 GNAQ GNAS SEMA4A COX4I2 GNB1 NME1 TAL1 TAL2 TALDO1 AP3D1 ABCG5 ABCG8 NOTCH1 TBX1 TAZ NOTCH3 SLC27A4 CA2 TBCE GP1BA GP1BB PNP SPINK5 TBX2 GP9 NPC1 NPHP1 TBXAS1 CYP4V2 GPI NPM1 SFXN4 CACNA1D CACNA1S TCF4 HNF1A TCF3 CAD PLOD3 SLC11A2 NRAS NEDD4L MLX TCN2 HTRA2 CALR GPR35 NTHL1 TMPRSS6 TAF1A CAPN3 GPX1 NUMA1 SLC19A3 NSD1 CASP10 CASR ADAMTS13 LMNB2 OCRL AIP SIK3 RUNX1 SLC7A7 CBFB TEK MPIG6B CBL PRDM5 LARS2 TERC TERT TF CBS TFAM OPA1 CLDN1 STT3B KRIT1 GSS TFR2 TFRC TGFB1 TGFB2 MMAA TGFB3 HAVCR2 UNC119 TGFBR1 TGFBR2 TGFBR3 MSH6 USP8 ORAI1 FCGR2C CORO1A THBD GTF2E2 CD3D LDB3 CD3E CD3G CD247 CD4 THPO SF3B1 THRA CD8A CD19 MS4A1 DCLRE1C GUCY1A1 ZNF341 CD27 IL12A-AS1 CD28 ETHE1 GYPC CD36 BRD4 BTNL2 SCARB2 ISCU TLR4 PRDX1 CYCS CD40 SERPINE1 CD40LG CHEK2 TREM2 ERCC6L2 TNFRSF13C CD59 LRRC8A TNFRSF13B TMPO CD70 CD79A CD79B CD81 CD151 PARN SERAC1 PAX4 RPL35 TNFAIP3 HADH LRBA TNFRSF1A TNFRSF1B TNNC1 SEC63 HBA1 BUB3 HBA2 TNNI3 HPS5 KAT6B HBB PDCD10 TNNT2 HBD MMAB CDC42 HBG1 PCCA HBG2 PCCB TNXB SERPIND1 TP53 ATP6V0A2 COX14 PCNT XPR1 PIGM HELLS TPI1 TPM1 CFH CDKN2A TPP2 TMEM67 USP18 TREX1 ASXL1 SCN11A PDE4D CEBPA HK1 CEBPE CEL HLA-B PDGFB PDGFRA PDGFRB PDHA1 HLA-DPA1 ATOH7 HLA-DPB1 VPS45 ENPP1 AMACR HLA-DRB1 CFTR PEPD BLNK CTRC HLCS PEX1 PEX6 DNAJC21 PEX10 PEX12 PEX13 PEX14 KCNE5 TSC1 TSC2 HMGCL HMOX1 PFKM HNF4A TRIP13 TTN LYST PGK1 ALX4 NLRC4 PGM1 SLC39A13 PGM3 HIRA RNU4ATAC TNFRSF4 TUBB1 SLC2A10 HOXA11 TYROBP VKORC1 ICOS PIGA CLCN7 CLCNKB COG1 PIK3CA PIK3CD PIK3R1 HPGD CLN3 SHPK HPRT1 RIN2 RECQL4 HPS1 UFD1 A2ML1 RAD54B SNX10 PEX16 PKLR GTF2H5 HRG CRIPT CYP7B1 ALG8 UMPS COL14A1 CCR1 PLAT PLAU PLEC ABCC2 PLG UROD UROS SERPINF2 PLN PLOD1 SEC61A1 ALG6 EIF2AK3 KDM6A NIPBL ALG12 COG4 HSPA9 VCL PML COL1A1 PMM2 COL1A2 COL3A1 COL4A1 PMS1 COL4A2 VHL COL4A5 COL5A1 COL5A2 COL7A1 PIGL BEST1 PMS2 KIF23 VWF COL17A1 NDUFAF5 WAS COMT WIPF1 ADAMTS3 ADAMTS2 P2RY12 DLL4 WFS1 POLE RRM2B POLG SMARCAL1 MPDU1 EGLN1 NDUFAF3 BAG3 COX6B1 WT1 COX8A COX10 COX15 CP CPA1 XK SAMHD1 IDH1 IDH2 CPOX NABP1 XRCC2 XRCC4 CPT2 NSMCE2 CFI CR2 SP110 CREBBP ZAP70 ALG2 MMACHC CRYAB IFNG IFNGR1 BCL11B GNA14 SEC24C CSF3R IGH PRF1 IGHM TTC37 SETBP1 RBPJ PRKACA CST3 LPIN2 PRKACG MPLKIP PRKAR1A CYP4F22 APPL1 PRKCD BLOC1S3 CTLA4 PRKCSH IGLL1 PRKG1 CTNNB1 CTPS1 MAP2K1 MAP2K2 CEP57 IL2RA NEXN CTSK IL2RG PRLR IL7R CYB5A PROC SEMA3E PROS1 CYBA CYBB IL10 IL10RA COX20 TET2 IL12A IL12B CYP2A6 PRSS1 PRSS2 IFT140 NLRP12 NDUFS7 CYP2C9 ZBTB16 ZBTB20 SAMD9 PRTN3 PLVAP PSAP PSEN1 PSEN2 ACD INHBA PET100 INS CYP11B1 CYP11B2 PIEZO1 CYBC1 RNF113A VPS33A PSMB4 BMS1 PSMB8 PSMB9 PDX1 CD55 PTPN22 DAXX DBH NHLRC2 ITGA2 ITGA2B PTEN NPHP4 NSUN2 ITGB2 ITGB3 ITGB4 GINS1 RNF43 ZBTB24 PTH1R PLEKHM1 DDOST PHGDH ITK HELLPAR FBXL4 IVD JAK2 JAK3 DES BLOC1S6 CCM2 PTPN11 ARL6IP6 SARS2 PTPRC CLPB VPS33B TINF2 SDHAF2 FIG4 CXCR4 KCNJ1 KCNJ5 DGUOK HPS4 DHFR KCNJ11 CYB5R3 PEX19 DIAPH1 SLC25A38 ABCD3 ABCD4 PEX2 PEX5 KCNN4 DKC1 KCNQ1 FIP1L1 DLD ATP11C RBM8A DMD RFT1 AMMECR1 KIT KLKB1 DNASE1L3 RAB27A NR1H4 IL23R KIF11 RAC2 DNM2 FKBP14 FERMT3 DNMT3A PDE11A DNMT3B FOXP3 RAD51 RAD51C DOCK2 RNASEH2B KRAS DPAGT1 RAF1 KRT1 RAG1 RAG2 KRT5 SCO2 EFL1 RANBP2 FAT4 CYSLTR2 KRT14 EVC2 RARA AMN SRD5A3 RASA1 RHBDF2 RASA2 SH2B3 USB1 GNE DSG2 RB1 NDUFAF2 DOCK8 LAMA3 AGGF1 LAMA4 FARSB ABCB6 LAMB3 DNM1L ABCC9 LAMC2 SALL4 FANCL RPSA REN NUP214 LBR LCAT RET LCK COLGALT1 MLLT10 CUBN WRAP53 TYMP ECHS1 PPCS AAGAB TBL1XR1 RFX5 RFXAP JMJD1C ARPC1B LEP CSRP3 LEPR PALB2 RHAG NLRP3 RFWD3 YARS2 PNPO ESCO2 RIT1 TTC7A NDUFA13 SLC17A5 RMRP MRPS7 MFAP5 RASGRP1 LIG4 ANGPTL6 LIPA KMT2D TRNT1 ABHD5 LMAN1 LMNA CDCA7 AASS ANO6 CCBE1 SBDS LOX FANCI SLC25A15 ARMC5 SAR1B LPP HPS6 IRAK4 ELANE STEAP3 LRP5 UBAC2 ELN GREM1 NHEJ1 SH2D1A ENG EPCAM RPL5 EP300 EPAS1 VPS13B EPB41 EPB42 RPL11 SMAD3 SMAD4 RPL15 RASGRP2 RPL18