SNPMiner Trials (Home Page)
Report for Mutation D299G
 Developed by Shray Alag, 2020.
SNP Clinical Trial Gene 
There are 6 clinical trials
Clinical Trials
      This study will create a database of clinical and biological research for use in future
      studies, with information obtained from lung transplant recipients. The database will consist
      of genetic material and clinical outcomes to be used in future genotyping studies, that is,
      studies regarding the genetic makeup of individuals. Lung transplantation has become an
      important option for patients with advanced lung disease. More than 10,000 patients have
      received them to date, and about 1,200 transplant operations are performed worldwide each
      year. Although short-term survival has continued to improve, the 5-year survival rate is less
      than 50 percent. Most post transplant deaths are directly or directly caused by chronic lung
      rejection, a condition of scarring that worsens lung function.
      Patients evaluated for lung transplants at Duke University Medical Center may be eligible for
      this study.
      For developing the database, a small amount of blood, about 3 tablespoons, will be collected
      from patients. Blood collection for the research will be done at the same time as blood is
      drawn for necessary tests. The blood cells and DNA (which contains genetic material) will be
      isolated for analysis. Patients' DNA samples collected will be identified by a code, and all
      other identifying information will be removed. Patients may be asked to donate additional
      blood samples after their lung transplant if researchers would like to reexamine their blood.
      This study will not have a direct benefit for participants. However, during the study, if it
      is found that any patients have an inherited risk for a disease likely to cause early death
      if the disease is not treated, then the researchers will attempt to notify those patients.
      Overall, it is hoped that information gained during this study will help medical
      professionals to learn more about immune activation and to see how the reactivity of lung
      transplant patients changes over time. If specific genetic risks could be identified, it
      might lead to individualized treatments that work on the immune system. Short-term and
      long-term survival of lung transplant recipients may thus be improved.
    
NCT00339209  Lung Transplantation Rejection 
We recently completed a study that demonstrated two single
      nucleotide polymorphisms (SNPs) Asp299Gly and Thr399Ile (polymorphisms of the human Toll 4
      gene associated with endotoxin hyporesponsiveness) were associated with decreased acute
      rejection after lung transplantation. --- Asp299Gly --- 
      The purpose of the study is to determine the role of nitric oxide (NO) in asthma and to
      characterize the symptoms associated with inhaled endotoxin (lipopolysaccharide [LPS]) in
      normal subjects. In this study, we will determine the effect of inhaled endotoxin on exhaled
      NO in healthy African Americans, with and without NOS2 promoter polymorphisms. The protocol
      described in this submission will involve the use of NIH Clinical Center Reference Endotoxin
      which has been approved by the FDA under IND BB-IND-10035.
    
NCT00643058  Healthy  Biological: LPS endotoxin 
Because SNPs in the TLR4 gene result in a lack of airway obstruction in response to
      endotoxin, we will genotype the 1000 DNA samples for the Asp299Gly and Thr399Ile TLR4
      polymorphisms in Phase 1 and exclude these individuals from the studies proposed in Phase 2.
      Likewise, CD14 serves as a coreceptor for endotoxin and polymorphisms in the CD14 gene and
      promoter have been associated with asthma and responsiveness to endotoxin. --- Asp299Gly --- 
  Primary Outcomes 
 Measure: Differential response to inhaled LPS based on NOS2 inhibition.
 Time: 24 hours with optional 48 hr,72hr and 7 day follow up
  Secondary Outcomes 
 Measure: Physiologic measurements
 Time: 24 hours with optional return up at 48 hrs, 72hrs and 7 day follow up
      The overall goal of this project is to identify genes that are involved in the development of
      airflow obstruction and airway inflammation in asthmatics, and to determine whether
      polymorphisms in these differentially expressed genes predispose individuals to develop
      asthma. In this project, we hypothesize that polymorphisms of genes expressed by the airway
      epithelia in asthmatics following specific airway challenges predispose individuals to the
      development of asthma.
    
NCT00671892  Asthma  Biological: Lipopolysaccharide endotoxin 
We hypothesize that individuals with the co-segregating Asp299Gly and Thr399Ile mutations in
      the TLR4 gene will exhibit a defective immune response to LPS, and that specific components
      of altered immunity in these individuals are linked to characteristic airway responses to
      LPS.
      Specific Aim 1: Approximately 1000 individuals will be genotyped in order to establish 3
      study groups: 10 subjects homozygous for the TLR4 299/399 mutation; 10 subjects heterozygous
      for the TLR4 299/399 mutation; and 10 subjects homozygous for wild type TLR 4.
      Specific Aim 2: Ten individuals with wild type TLR4, 10 individuals heterozygous for mutant
      TLR4 and 10 individuals homozygous for mutant TLR4 will be phenotyped for airway
      responsiveness to inhaled LPS. --- Asp299Gly --- 
  Primary Outcomes 
 Measure: Ascertain individuals homozygous, and heterozygous for mutant TLR4 genotype, along with wild types by recruitment of healthy screening subjects in the community.
 Time: completed
  Secondary Outcomes 
 Measure: Assess the effect of TLR4 genotype on LPS endotoxin induced immune responses and assess the association of the LPS-induced immune response with LPS-induced airway responses.
 Time: 24 hours
      The purpose of this study is to determine if sequence variations in genes involved in the
      development and function of vulnerable organs increases susceptibility to chronic lung
      disease (CLD) and other diseases affecting premature infants, such as necrotizing
      enterocolitis (NEC), sepsis, patent ductus arteriosus (PDA) and intraventricular hemorrhage
      (IVH). The study will also determine whether measurement of certain biomarkers in serum will
      identify infants who will develop these complications of prematurity. Previous studies from
      this institution and others have identified genetic variants in some genes, such as toll like
      receptor genes are associated with higher risk of CLD or NEC. The interaction of these
      variants with other gene variants that can influence the risk of these diseases remains
      unclear.
    
Our
      hypothesis will be tested in VLBW infants in four specific aims: (1) To determine whether the
      presence of previously described single nucleotide polymorphisms (SNPs) in TLR4 (Asp299Gly,
      Thr399Ile) TLR2 (Arg753Gln) and TLR5 (Arg392STOP) genes is associated with an increased risk
      of CLD ; (2) to detect by DNA sequencing if novel genetic variations in TLR4, TLR2, TLR9,
      MyD88 and other innate immune genes increases the risk of CLD or other disease in premature
      infants; (3) to identify by gene sequence approach whether variants in other repair and
      growth genes alter susceptibility to diseases affecting premature infants such as CLD,NEC or
      sepsis or PDA or IVH; and (4) whether alterations in cytokines, miRNA and other biomarker
      levels in serum from the same blood samples can provide additional predictive value in
      recognizing the risk of diseases of prematurity. --- Asp299Gly --- 
The TLR4 (Asp299Gly, Thr399Ile) TLR2
      (Arg753Gln) and TLR5 (Arg392STOP) SNPs will be evaluated using a multiplex Single Base
      extension based technique, using commercially available primers. --- Asp299Gly --- 
  Primary Outcomes 
 Measure: To determine if small variations in certain genes predispose infants to the development of chronic lung disease and other diseases of prematurity
 Time: participants will be followed for the duration of hospital stay, an expected average of 6 to 8 weeks
5 The Role of TLR-4 Asp299Gly and Thr399Ile Polymorphisms in Children With Urinary Tack Infections 
      Purpose So far anatomical abnormalities (mostly congenital) were, in the majority of the
      patients, associated with urinary track infections. In this study the researchers will try to
      investigate the role of TLRs as molecular interactions between bacterial virulence and host
      response.
      TLRs are important mediators in the development of the natural immunity against bacteria.
      They recognize microbial pathogen associated molecular patterns and alert the host's immune
      system to the presence of invading microbes
    
NCT02021305  Urinary Tract Infection MeSH: Infection    Communicable Diseases    Urinary Tract Infections   
The Role of TLR-4 Asp299Gly and Thr399Ile Polymorphisms in Children With Urinary Tack Infections. --- Asp299Gly --- 
2. evaluate the effect of the TLR-gene Asp299Gly and Thr399Ile polymorphisms on the
           development and clinical severity of urinary tract infections (UTI) in children. --- Asp299Gly --- 
  Primary Outcomes 
 Measure: frequency of TLR-4 299, 399 polymorphism and expression of TLR-2 and TLR-4 by monocytes in children with urinary track infection and healthy controls.
 Time: 4 years
6 TLR4 Polymorphisms and Predisposition for Skin Cancer Development 
      Toll-like receptors (TLRs) play a key role in the innate immune system. Toll-like receptor-4
      (TLR4) in particular, appears to play a role in susceptibility to cancer. Of 44 identified
      SNPs (small nucleotide polymorphisms) in TLR4, the most common is an A-G substitution at
      nucleotide position +896, downstream of the cDNA start codon, a missense mutation which leads
      to an amino acid substitution Asp299Gly in the third exon of the TLR4 gene. Pre-clinical
      studies from our laboratory have shown an association of TLR4 with ultraviolet radiation
      induced skin cancer. Hence, in this study we will assess the pattern of TLR4 polymorphisms
      and susceptibility to skin cancer.
    
NCT03122366  Skin Cancer  Diagnostic Test: Detection of single nucleotide polymorphisms (SNP) MeSH: Skin Neoplasms   
HPO: Neoplasm of the skin   
Of 44 identified
      SNPs (small nucleotide polymorphisms) in TLR4, the most common is an A-G substitution at
      nucleotide position +896, downstream of the cDNA start codon, a missense mutation which leads
      to an amino acid substitution Asp299Gly in the third exon of the TLR4 gene. --- Asp299Gly --- 
TLR4 SNP Asp299Gly. --- Asp299Gly --- 
  Primary Outcomes 
 Description: TLR4 SNP Asp299Gly
 Measure: single nucleotide polymorphism
 Time: once during the course of study
HPO Nodes
Asthma 
Genes 138
DNAH9  COL5A2  DNAH11  NFKB2  TDGF1  DDX41  SPAG1  ARMC4  GP1BA  GAS2L2  CCDC151  ERCC2  TNF  SPINK5  GP1BB  GAS1  TGIF1  CCL11  CDON  DLL1  CFAP221  PTGER2  TBX21  LRBA  RSPH4A  CFTR  FLG  NME8  DNAAF4  ZIC2  SCGB3A2  CCDC65  SDHD  ADRB2  TBX1  GP1BB  SIX3  IDS  NODAL  NSUN2  ELOVL4  PEPD  CARMIL2  CFAP300  FGF8  GP9  FOXJ1  DNAI1  CASP8  DOCK8  CCDC151  DISP1  IL13  CCNO  ALMS1  RSPH1  CCDC39  STK36  MUC7  NOD2  CARD11  CCDC28B  DNAL1  DNAH1  ZMYND10  RSPH3  RSPH9  MS4A2  PLA2G7  HNMT  DRC1  NKX2-1  SHH  COL1A1  CCDC103  SPINK5  FGFR1  DNAAF3  MTOR  HIRA  LRRC56  LRRC6  GAS8  CFAP298  NEK9  CCDC40  IL4R  PGM3  DOCK8  DNAAF2  GLI2  RREB1  TGFB1  PTCH1  GRHL2  SIK3  SCN4A  BBS1  TALDO1  DNAAF1  NKX2-1  OFD1  TRAIP  PLCG2  HLA-G  COL5A1  ALMS1  DNAI2  BCL11B  LIG4  GTF2H5  PGM3  ARVCF  PEX5  CDSN  SEC24C  DNAAF6  DNAH5  CCDC114  ADA  PLA2G7  JMJD1C  DNAJB13  RPGR  FOXH1  ALOX5  TTC25  FCGR2A  TBX1  COMT  COX4I2  UFD1  SPEF2  SUFU  DNAAF5  LIFR  MCIDAS  HYDIN   hr>
Abnormal lung morphology 
Genes 1201
GPC3  ARID1B  NFKBIA  POLR3H  TNFRSF11A  GLI3  CLPB  BIRC3  IL17RA  ZFPM2  WDR34  CTSC  BTK  FCGR3A  PORCN  STRA6  PIGL  FRAS1  PHGDH  SLC18A3  STAT3  TERT  CFTR  TAF1  GLI1  CFTR  PRKCD  DNAAF4  EGFR  TGFB1  LEPR  SLC18A3  ZMPSTE24  COL2A1  DICER1  PEPD  DLL3  NGLY1  TERC  WAS  MARS1  TTC21B  DNAAF2  SELENON  IRAK4  SFTPA2  ARMC4  FBN1  GBA  RSPH1  DYNC2LI1  SLC2A10  ALOX12B  DNAL1  TINF2  UNG  DHCR24  ADAMTS2  IL2RB  NKX2-1  HOXD13  SFTPB  KIAA0586  SPINK5  HIRA  GBA  GAS8  CEP57  CFAP298  WDR60  GNPTAB  KRAS  LEP  MCTP2  KAT6B  PUF60  CD3G  FCN3  CYBA  TBL1XR1  DOK7  CHRND  SMN1  EP300  BUB1B  DOCK8  EFEMP2  ESS2  SMPD1  SCNN1G  CSF2RA  RBPJ  BCOR  HLA-DPB1  KAT6B  DNAAF1  ICOS  KIF11  MEFV  SPAG1  CCDC40  TRAIP  CARD11  RSPH4A  IL10  LZTR1  CHRNG  PTPRC  NOTCH3  SNORD115-1  NOTCH3  ARVCF  BACH2  RLIM  RAG2  ITCH  DGCR6  MST1  FCGR2A  TBX5  CD28  IDUA  SLC25A22  STN1  MGP  CD8A  SULT2B1  CHST14  JMJD1C  TPM2  CCDC103  HELLS  FCGR2A  MRPS22  SLC5A7  CEP55  SDR9C7  HERC2  GPC6  TGFBR1  STAT3  TTC37  CD247  MESP2  GTF2I  CDC45  BLNK  IGH  CCNQ  KIAA0586  BLNK  FOXP1  MAT2A  SMARCA4  SGCG  FAM20C  PRKN  MPLKIP  NPAP1  FOXE3  NCF1  SMAD4  CYP4F22  TPP2  RNU4ATAC  EIF2AK4  STAT6  NGLY1  LRBA  DNMT3B  CCR6  GATA6  P4HTM  TRPS1  COL13A1  MIF  C1R  DNAAF5  SFTPB  CD81  CARMIL2  GATA6  CCNQ  TAP1  FGFR3  SFTPC  MESP2  SMAD4  SNX10  DOCK8  SHROOM4  WDR35  GRIP1  ETFB  MARS1  FLNB  LETM1  TERT  APOE  SMPD1  CSF2RB  CTLA4  SCN10A  GREB1L  ITGA8  NPM1  LGI4  MYH3  CR2  ARID1B  SERPINF2  NHLRC2  GPC4  COL1A1  DCLRE1C  NDN  SGSH  LRRC56  LRRC6  HPS4  BTNL2  CCDC40  ALG9  TMEM94  BTK  DGCR8  CCBE1  EWSR1  WDR60  PGM3  COG4  PSAP  HES7  SCN9A  CFB  KIAA0319L  LMNA  HLA-DRB1  RBM10  EFEMP2  MRAS  SMARCC2  AGGF1  COL6A2  POLR3A  GTF2E2  SMAD3  ALDH18A1  WRAP53  INVS  ITGA3  CFI  HLA-B  FBLN5  DNAI2  MINPP1  FAS  SLC26A2  ZAP70  DCTN4  NR5A1  CD79B  NEK9  FREM2  ARHGAP31  KIF1A  AFF4  BTNL2  CYP2A6  DONSON  WDR34  GLA  TIRAP  STAT3  CCDC114  ACVRL1  PTEN  DLL4  ZBTB16  GATA6  HYLS1  PIK3R1  HACD1  DPM2  KITLG  RMRP  DNAH11  STAT5B  ERF  EPM2A  HYDIN  G6PC3  ATM  COL5A2  SNORD116-1  DNAH11  NFKB2  EPG5  BCL10  CCR1  SON  ERCC2  AK2  RASA2  STRA6  SLC35A1  MS4A1  DNAAF3  REN  MYH3  CCDC151  LIG4  MKKS  ATP11A  FBLN5  ATP6V0A2  BMPR2  SLC22A18  SOS1  RFC2  PPP2R1B  TGFBR2  IFT81  WIPF1  GATA4  LFNG  RAF1  NOP10  RFXANK  RSPH4A  HLA-B  SLC52A3  NHP2  CXCR4  GSN  PCNT  TNFRSF13B  LEP  TERC  CORO1A  CCDC65  PTPN22  CD55  TGFBR1  IL17F  ALG12  STAT4  COL11A2  MEFV  NHLRC1  ABCA12  LTBP3  SCNN1B  DVL3  HLA-DRB1  RPL10  NSD2  RARB  TECPR2  CCBE1  EPG5  VANGL1  FLNA  CCDC39  RFXANK  BMPR2  CARD11  SFTPC  CFH  OFD1  ITCH  MYH11  JAGN1  PRKAR1A  LRRC6  NAA10  ITPR1  CFTR  GLE1  PLP1  GPR35  INTU  STAT1  NR2F2  CYBC1  ABL1  SLC35A1  HLA-DPA1  LBR  PSMC3IP  BRAF  CASP10  RAG2  TERT  CACNA1C  HLA-DRB1  PHGDH  CHRNA1  TRIP13  MYD88  IDUA  B3GLCT  NOTCH2  TAPT1  KIAA0556  AICDA  CLCN7  PANK2  PAX6  MKS1  RANBP2  FARSB  FGF20  FLNA  ELN  CIITA  RSPH3  ADA  DNAAF2  PLVAP  BCL2  EMG1  KMT2D  ZNF341  TNFRSF1A  IL7R  LEPR  NAGLU  RAG2  MESP2  CD46  WT1  ELN  SCNN1A  PERP  HLA-DRB1  DIS3L2  DLL3  MITF  CSF2RA  LAMTOR2  BRAF  RAG1  BLM  CCR6  NSMCE3  UMPS  INHBA  ELN  IL23R  RFX5  GRHL3  IL6  LIPN  WT1  TTC25  FGFR3  ADA  LMNA  TTC25  ACTA1  TP53  ZAP70  LOX  UFD1  ALPL  IGHM  SCNN1G  STAT3  COL3A1  RAG2  NBN  FLCN  LIFR  TGM1  PIK3CA  CACNA1B  ATP5F1A  GPKOW  ARMC4  TREX1  NCF1  SNAP25  SERPINH1  IPW  FADD  CXCR4  TSC2  CD3E  BUB1  MCM4  CFAP221  ERAP1  CTC1  DNAI2  KCNJ6  COPA  NOTCH1  SPINK1  CCDC114  DOCK6  PLG  ABCA3  SLC25A24  SOX10  LRRC8A  FAS  ICOS  POLA1  VPS33A  PRKAR1A  FCGR2B  CHAT  PAX3  CCNO  ALMS1  NCF2  ITGA8  GLB1  CHRM3  TNFRSF13C  ERCC3  EVC  FADD  CTLA4  CD79A  BMP15  H19  RSPH9  NEK8  CFTR  NCF2  FLNB  FASLG  MAP3K8  RIT1  MECP2  TERC  KLHL40  CCND1  HLA-DRB1  IKBKB  DNAAF3  TP53  MAGEL2  CCN2  ACP5  CHAMP1  HYDIN  TINF2  EOGT  MTHFD1  SMARCB1  ABCA3  RAG1  PIK3R1  TERT  PWAR1  SCARB2  OCRL  MS4A1  DNAAF6  PIK3R1  CCDC39  UBE2A  NKX2-1  TCF4  ACTA2  ARID2  ZBTB24  UBAC2  FRAS1  TINF2  ETFDH  WDR19  GNPTAB  C4A  NFIX  RAG2  PTEN  SCNN1A  RFXAP  USP9X  NFKB1  NIPAL4  WRN  IL2RG  POLE  MEFV  KLHL41  PKHD1  AGT  TGFBR2  INPPL1  GBA  MYBPC3  GUSB  CITED2  CTRC  CSPP1  RHOH  MCIDAS  DCLRE1C  TIMM8A  DNAH9  PEX1  SIK1  GTF2H5  IER3IP1  GUSB  EPHB4  COL2A1  TBC1D24  SPAG1  MSN  GAS2L2  NIPBL  NFKB1  CRELD1  BRCA2  IGLL1  RNF168  ZBTB24  RFX5  TERT  MKRN3  RASGRP1  PLEC  NOP10  BICC1  NSDHL  MUSK  ENG  MBTPS2  DHCR7  IRAK4  COLQ  TCTN3  MYO9A  TBX1  DRC1  CC2D2A  IRF2BP2  WNT4  HSPG2  TAP2  KEAP1  LAMA2  DICER1  WT1  CFAP300  RIPK4  DNAI1  TBCD  RRAS2  IL2RG  RELA  SOX4  MFAP5  IFNGR1  NOD2  GLI3  TRPV3  ZMYND10  NRAS  RFXAP  FOXF1  DGCR2  RSPH9  PLOD1  SLC11A1  SLC7A7  SCNN1B  PKD1L1  TRIM28  SLCO2A1  CLCA4  MLXIPL  CLIP2  BMP2  CCDC65  DHCR24  POU6F2  SFTPA1  FIP1L1  SERPINA1  TRIP4  USB1  UBB  FLCN  LAMTOR2  TBC1D24  NECTIN1  SAMD9  CCNO  AARS2  LMOD3  GLDN  CIITA  MUC5B  LCK  NPM1  MMP21  IFT172  COL5A1  TBL2  ASAH1  ALMS1  DNASE1  RUNX2  DNAAF4  SH3KBP1  NPHP3  CSPP1  DNAI1  IL12A-AS1  NABP1  TSC1  TNFRSF13C  SEC24C  TGFB2  IDUA  IL2RG  CCND1  DNAAF6  MYH7  GALNS  NUMA1  FUCA1  RIPPLY2  B2M  SFTPC  FLI1  CD3E  ELANE  ASCC1  TCF3  SLC29A3  RELB  ERCC6  ACTA1  FGFR1  LAMB2  COMT  SPEF2  AGA  ELN  PYROXD1  CLEC7A  NAA10  KRAS  GPC3  SMPD1  SOX11  REST  DDR2  BCL11B  SLC7A7  NUP88  FLCN  EDARADD  SPECC1L  FAM111B  MYSM1  ARID1A  GNS  CD79B  LYST  PDGFRA  SRP54  PIEZO2  BGN  IL1RN  GATA4  TRIP11  GBA  SLC26A2  NUP107  NAA10  THOC2  SELENON  RARB  STX1A  RTEL1  TNFRSF13B  GP1BB  SKIV2L  VPS13A  BCOR  BCOR  INPPL1  CAV1  AP3B1  EDNRB  NOTCH2  GATA2  IRF5  CSF2RB  TTC7A  SDCCAG8  FANCB  JAK3  TBCE  RTEL1  OSTM1  VHL  CCDC151  NEK1  IL21  SPP1  DNAJB13  JAK3  RNF125  INSR  STK36  IL7R  POLA1  CD19  FOXC2  CD3D  RSPH3  TRIM28  FBLN5  SNAI2  TAPBP  RAPSN  CYBB  CCN2  DRC1  VAMP1  ADNP  WT1  PTPN22  IFT80  PTPN11  ARSB  SP110  ZEB2  SLC25A1  ASAH1  PCGF2  SOS2  COQ7  COL6A1  GATA6  SLC46A1  EVC2  RRAS  IKBKB  LPIN2  TGFB2  GLE1  GAS2L2  RREB1  TGFB1  PEPD  RNU4ATAC  STK11  MYL2  SCN11A  C1QA  ERBB2  TSC2  KLRC4  PSAT1  MYT1  DICER1  SCNN1B  BTK  CCDC22  DSP  CFTR  RYR1  ADAMTS3  CD81  WDR60  PLG  SYT2  USP9X  DKC1  GLI3  LMNA  PRPS1  ELANE  C11ORF95  WNT3  ALB  RSPO2  IFT80  NME8  ATP6V1E1  TNFRSF13C  RPS15A  MAP3K20  DYNC2H1  TNFSF12  KAT6B  ADA  SMARCE1  FASLG  DSG1  ELN  RPGR  IFT43  CREBBP  PRTN3  COL3A1  LTBP4  NFE2L2  FLNA  BMPER  RIT1  RCBTB1  GAS8  FBN1  DPF2  BAZ1B  CASP8  EHMT1  KRAS  LACC1  ARHGAP31  PRSS2  CRELD1  NFKB2  WDR35  ZMYND10  IL17RA  TARS1  NXN  FANCB  COL6A3  TCIRG1  WASHC5  CHRNG  ETFA  GDF1  DPP9  NME8  IL17RC  AGRN  CHRNG  CDT1  RPGR  TBX1  CBL  NADK2  GTF2IRD1  PML  IRF1  ABCA12  LAT  IFT140  PTPN11  MANBA  PARN  GFI1  NBN  RARA  RNF113A  HELLPAR  PMM2  SPIDR  SCNN1A  ICOS  TNFSF12  PWRN1  MGP  USB1  TYK2  IL21R  FMO3  AGA  IRF5  FSHR  MYRF  SLC34A2  RIPK1  DNAAF1  HPGD  ORC6  HPS6  NPHP3  GMNN  RB1  RYR1  CFAP298  JAG1  TNFRSF13B  KDM6A  TSC1  SAMD9L  GDF1  ROR2  WNT4  ACE  TPM3  WDR34  FBN1  GBA  CFI  BUB3  COG4  PPP1CB  TSC2  PRKG1  MYLK  MUSK  IGHM  TSC1  TRAF3IP2  RAF1  CEP120  PGM3  IL12A  TNFRSF1B  DNASE1L3  EGFR  ELP1  ELN  FLCN  PNP  DNAH5  HGSNAT  SETBP1  ECM1  PIGN  CR2  MASP2  RTEL1  SFTPA2  AP3D1  MBTPS2  RAC1  CRTAP  PIGN  KAT6B  IFIH1  DNAAF5  BRAF  ADGRG6  FAT4  SNRPN  DYNC2H1  SOX18  CD19  ACADVL  TNFSF11  CYBB  PTPN22  PEX13  TRIP13  TK2  AKT1  SLC2A10  GAA  PRKDC  ALOXE3  CR2  CYBA  FUZ  RAG1  PTH1R  MUC5B  CDCA7  LMNA  TERC  RAG1  CD19  CD79A  DNAH5  TFRC  PIEZO1  FOXP3  IRF8  NEB  LYST  EXOSC9  A2ML1  CD3D  CRKL  RYR1  NKX2-5  BAP1  TGFB3  PDGFRB  DCLRE1C  PARN  CTLA4  CEP120  PRKAG2  DCLRE1C  SLC26A2  TGFB1  CTLA4  XIAP  RSPO2  IL7R  TRPV4  BCL6  IKBKG  FOXJ1  NELFA  ZMPSTE24  IL2RG  CASP8  TMEM260  RAG1  IGLL1  CFAP410  CAV1  HPS1  SERPINA1  FOXE1  UNC119  RSPH1  LIMK1  MYOD1  DYNC2LI1  RAG1  SLC26A2  PARN  TRIP4  STAT1  DNAH1  FAS  WDR19  DHCR7  WAS  CCDC103  IL2RA  TLR4  SLC12A6  ACTA1  ATM  RET  LRRC56  RAB3GAP2  PIGN  FGF20  STAT4  IKZF1  PRKCD  SLC35C1  HFE  MKRN3-AS1  SH2D1A  HABP2  NAB2  NCF4  XIAP  MAPK1  FSHR  CHD7  IGH  AGTR1  WNT3  BLM  HLA-DRB1  SMARCD2  NKX2-5  TBX6  STING1  ELP1  OFD1  COL13A1  NHP2  RAB27A  MYO5A  DKC1  FAM13A  COL11A2  TRIP11  HRAS  IRAK1  PRSS1  GRIP1  PLCG2  NCF4  ZNHIT3  MALT1  SCNN1G  BCR  NRAS  TCIRG1  MEFV  SOX18  TBC1D23  CEP57  SERPINF2  DNAJB13  PIK3CD  FAT4  TBX1  ITGA7  RNF168  SMN1  TERT  DNMT3B  SMAD3  NFKB2   hr>
Neoplasm of the skin 
Genes 274
COL7A1  LZTS1  GTF2H5  SDHC  NRAS  KRAS  ERCC2  KIT  CTSC  RASA1  RECQL4  SUFU  ERCC2  TGFBR2  PORCN  ERCC4  TARS1  ERCC3  XPC  ERCC2  FH  KRT17  NTHL1  PTEN  MSH3  PIK3CA  RASGRP1  IL7  ERCC4  TNFRSF1B  SDHD  PRKCD  CYLD  MBTPS2  CXCR4  KIT  BMPR1A  FAN1  NF1  KRT1  MSH3  CDKN2B  KEAP1  DICER1  TNFRSF4  PTCH2  TERC  CDKN2A  KDSR  CIB1  GJB4  PTCH2  CDKN2C  RNF113A  DCC  COL7A1  ERCC3  ERCC4  SNAI2  CHEK2  IFNG  TMC6  COL1A1  TRPV3  GJC2  TINF2  FLT4  PRKAR1A  MSH2  MLH1  STAT1  KRT6B  HPGD  CASP10  TERT  NLRP1  ERCC5  NUTM1  SLCO2A1  RSPO1  MDM2  PTEN  FCN3  KRT16  DOCK8  HRAS  BRAF  NF2  TYR  KRT17  NF1  PSENEN  WRAP53  RNF6  MEN1  TSC1  MSH2  CYLD  PTEN  PERP  IGHM  TP53  PDGFB  KRAS  POLH  BMPR1A  BLM  NOTCH3  TNFRSF1B  KRT5  MLH3  SUFU  KRT9  CTLA4  FLCN  CD28  DDB2  NRAS  ECM1  CTNNB1  MSH2  COL7A1  FLT4  TCF3  MEN1  FH  KRT17  SMO  NRAS  MMP1  LMNA  FGFR1  MVK  PTCH1  GPR143  APC  NF1  PMS1  CDK4  APC  NF2  WNT10A  GJB6  TSC2  KIT  BLNK  SPRED1  AKT1  NRAS  SDHC  NTHL1  SMARCB1  GJB2  MLH1  PMS2  LMNA  MSH6  CXCR4  LAMB3  CD79B  MPLKIP  NF2  CDKN2A  KIT  MSH6  PIK3CA  BAP1  PDGFRB  VEGFC  KLLN  RMRP  HRAS  CTLA4  LRRC8A  FAS  KRAS  BRD4  CARMIL2  SDHB  MSH2  WNT10A  PRKAR1A  CYLD  KRT14  IGLL1  PIK3CA  HRAS  TYR  ERCC3  MITF  GJB3  CD79A  GNA14  MLH1  CDKN1A  RPS20  GJB2  SLX4  PTCH1  OCA2  TP53  APC  CDKN2A  CIB1  AKT1  CDKN2A  FDPS  STK4  ERCC5  LAMA3  TMC8  PDGFB  ING1  MSH6  KIT  GJA1  LAMC2  PIK3R1  CDKN1B  OCRL  BLM  FH  NF1  GTF2E2  EPCAM  KLLN  SEC23B  TGFBR2  SEMA4A  PIK3CA  XPA  SLC17A9  TNFRSF10B  FAS  DKC1  APC  RECQL4  CD28  NRAS  PTEN  MLH1  DDB2  TMC6  CTNNB1  ERCC2  SASH1  MC1R  PMS2  SLC45A2  MVD  SEC23B  KIT  WRN  PTEN  ALX3  SDHB  FERMT1  FASLG  PMVK  MMP1  HRAS  COL7A1  TP53  XPC  ERCC3  WWOX  CDKN1B  PLCD1  GJB2  PTCH1  IKBKG  POLH  MC1R  DCLRE1C   hr>