SNPMiner Trials by Shray Alag


SNPMiner SNPMiner Trials (Home Page)


Report for Mutation D299G

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 6 clinical trials

Clinical Trials


1 Prospective Lung Transplant Database for Genetic Research

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 ---


2 Nitric Oxide, LPS and the Pathogenesis of Asthma - Phase II

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

3 Role of TLR4 in Environmental Asthma

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
MeSH:Asthma
HPO:Asthma

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

4 Genetic Variants and Susceptibility to Diseases of Prematurity in Very Low Birth-Weight Infants

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.

NCT00710112 Chronic Lung Disease Genetic: gene variations
MeSH:Lung Diseases Birth Weight
HPO:Abnormal lung morphology

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


HP:0002088: Abnormal lung morphology
Genes 1242
CCDC39 KMT2D FGFR3 GLI3 PRSS1 RAG1 DSG1 ELP1 TSC2 IL17F NEK9 BLNK BACH2 ARHGAP31 SGSH ARID1B PTEN STK11 STAT3 SPINK1 CD19 DNAH1 AICDA RRAS2 MEFV CASP10 CTLA4 PDGFRA GATA6 SFTPC FOXN1 GPR35 MED25 DYNC2LI1 RAG2 CBL STAT3 TTC37 ATM LTBP3 STN1 RSPH3 GLA WDR35 REN LAT KRAS CCR1 TYK2 BGN NR5A1 CCR6 TTC7A GPC3 LGI4 IL6 GAS8 DGCR8 COLQ TCF4 COL11A2 RUNX1 BCOR ORC6 DCLRE1C SERPINA1 SLC7A7 HRAS TBX1 GBA RNF113A ICOS SETBP1 CFI IRF2BP2 MYBPC3 CEP57 CHST14 CHRND CEP120 ESS2 BMP15 HPS4 BCOR IFT43 GBA BCL2 MRAS DICER1 MECP2 WRN GLB1 CSF2RB SELENON CHRNG BCOR INPPL1 CD3G ACADVL PAX3 SFTPC NSMCE3 AGA CCDC65 POU6F2 HGSNAT C4A SFTPB NFIX BUB3 MARS1 GREB1L SLC26A2 EXOSC9 FCGR2A DYNC2I1 ABCA12 TRIP11 DGCR6 MST1 DSE NCF4 FGFR1 ARSB LYST RAG1 TPP2 RAG2 PHGDH EDNRB SCNN1A EVC2 ITCH DICER1 WDR19 WNT4 SFTPA2 WT1 IGHM DNAAF4 CRTAP OCRL TP53 CFB TNNI3 TINF2 DCLRE1C MAGEL2 ATP11A LTBP4 TAF1 SCNN1B GTF2IRD1 IFT80 UFD1 MUC5B NUP107 BRAF FAS SNORD115-1 IL2RG MYH3 GPKOW RFXANK ICOS CEP57 LPIN2 TAP1 CD3D IRF5 FOXJ1 AGRN KITLG PIK3R1 CHRNG WIPF1 GPC4 CTLA4 CYP2A6 RPGR CORO1A ZMPSTE24 EP300 JAGN1 LFNG TGFB1 CD3E DNAL1 EXTL3 NCF1 SNRPN CLIP2 COMT SFTPC STAT4 HLA-DRB1 WAS DOK7 RMRP RSPH9 HLA-DRB1 IL23R DIS3L2 ERCC3 RAB27A POLR3H ERAP1 FOXP1 ITGA3 CFH PCGF2 ATP6V0A2 DNMT3B NOTCH1 BICC1 HIRA DKC1 LEP BCR TGFBR2 AKT1 ATP5F1A RNF125 FBN1 TGM1 CCDC40 NEK10 TGFBR1 RAC1 CREBBP TMEM94 ELN DNAI2 PLG UGP2 COL6A1 SLC25A1 DYNC2I2 IGLL1 IRAK1 CHRM3 SOS1 MYH7 COG6 CD8A STX1A GSN DNAJB13 PRKN EDARADD TERT NSD2 HLA-B CYTB WNT3 LEPR MKS1 IL2RB ZMPSTE24 PARN GRIP1 TRPV3 MEFV GATA4 CHAMP1 C11ORF95 DNAJB13 FOXP3 RAF1 DYNC2H1 BTK RFXANK MYH3 SMARCE1 DGCR2 ALPL SLC18A3 NR2F2 NEK1 STRA6 NKX2-1 TERC CAV1 NAA10 TGFBR2 PWRN1 RYR1 AGA CR2 TERC PIGN CCNO PKD1L1 RPL10 COL5A2 BLM H19 ABL1 CFTR RIT1 NCF1 CR2 IL2RA PSMC3IP ARID2 SLC7A7 SLC35C1 TIMM8A CDC45 NFKB2 CCDC114 TPM3 SCNN1B ADA LRRC56 HLA-DRB1 PEPD KATNIP LYST GRHL3 TAPT1 NBN GDF1 PRKCD CTC1 RCBTB1 PMM2 RET COL2A1 SMAD3 POLR3A LIPN BMPR2 SCNN1B SDR9C7 ASAH1 DNAAF6 CRELD1 OSTM1 RNU4ATAC COL13A1 DHCR7 GPC6 MGP MCIDAS IL17RC PSAP NAB2 KEAP1 TSC1 CITED2 SLC1A4 NGLY1 PPP1CB MANBA FGF20 A2ML1 MITF MAP3K8 ALB SMARCD1 HES7 POLA1 ERBB2 ALMS1 GUSB SMN1 SLCO2A1 CD79B CFAP221 VHL FGFR3 CYP4F22 IGLL1 STK36 TP53 HSPG2 PLOD1 DSP GMNN NHP2 COL11A2 OFD1 TNFRSF11A ARHGAP31 MALT1 CSF2RA COG4 RREB1 SCNN1A CD40LG NME8 SELENON NPHP3 LMNA CFTR CFAP298 SMPD1 FAT4 BTNL2 ALG12 IL21 BCL10 PRKDC TNFRSF13C HLA-DRB1 FOXE1 NXN BLM ERCC6 RSPH9 TBX5 LIG4 TBCE GALNS ACTA2 SLC12A6 SOX10 ZBTB16 FBLN5 SMAD4 NAGLU HELLS CTSC PRKG1 RASGRP1 CRELD1 ADGRG6 DYNC2I1 TINF2 SMARCB1 SP110 RSPH1 CCDC39 ARMC4 SMPD1 LAMTOR2 ABCA3 NHLRC2 FAS IKBKB MBTPS2 PTPRC NFKB2 MMP21 TCIRG1 MS4A1 MTHFD1 RYR1 ADA DNAI1 DVL3 PLCG2 PTPN22 BCL11B BAZ1B RTEL1 CALCRL CCBE1 SFTPB PTH1R DNAH11 CTLA4 DCLRE1C ASXL1 SAMD9L WT1 PIK3CA TREX1 GBA CFTR TRIM28 GP1BB TGFB1 CLPB ICOS FLNA GFI1 ARID1B IRAK4 DNAAF2 SFTPA2 JAG1 EGFR IGH KIAA0586 RIT1 PCNT DNAH5 NFKB1 GBA STAT1 TET2 RAG2 HLA-DRB1 CCDC151 MFAP5 EPG5 SLC25A22 DYNC2I2 HYLS1 XIAP MUSK SLC35A1 GNPTAB MS4A1 LOX LEPR CRKL RAG1 ZMYND10 COL6A2 PIGL ATM MIF IFT81 STAT4 LMOD3 GAS2L2 CDCA7 MEFV PRPS1 TGFB3 ERF KLHL40 SLC34A2 EPHB4 RFX5 KAT6B HYDIN RELB RLIM ADAMTS3 MEFV PUF60 KRAS SCN9A BTNL2 FOXC2 SH2D1A LEP PGM3 NOS1 ERCC2 TBX1 TBC1D24 CHD7 DLL3 POLE ALG9 LRRC6 TNFRSF13B CD28 CFTR CTRC OFD1 RANBP2 CHRNA1 IL7R MYL2 LZTR1 TRAIP CCDC22 IGH CCDC40 IL2RG SNORD116-1 MYOD1 ALOX12B NFKB1 KIF11 TINF2 GLI3 TRPS1 SGCG CCN2 PARN EOGT CHAT TSC1 SERPINH1 CDT1 CTCF UBB FOXF1 PRKAR1A PIK3CD BAP1 FBN1 DHCR24 TTC25 CARD11 SERPINF2 HELLPAR CXCR4 DYNC2I2 MASP2 IL6ST TBC1D24 GATA6 TBCD SMN1 RSPH3 COG4 MARS1 CSPP1 ITGA8 KIF20A PERP MUSK HLA-DRB1 HYDIN TGFBR1 CASP8 SCNN1G CD46 TNFSF12 RRAS RHOH SPINK5 MAT2A CCR6 ABCA3 LACC1 PRKCD FCGR2A CCN2 FAT4 KDM6A IDUA DNAH11 RSPH1 DOCK8 DYNC2LI1 NKX2-1 CCNO SPAG1 LIMK1 MPLKIP MINPP1 BIRC3 FBN1 FGF20 TERT IKBKB CD79A AFF4 FSHR STAT5B TNFRSF13C MYO5A NOTCH3 ELN LAMTOR2 IL12A-AS1 NADK2 RELA DPM2 PWAR1 MESP2 ELANE CD81 PNP PRSS2 ZAP70 WRAP53 DNAAF1 CHRNG MYRF TSC1 CLCA4 HABP2 DNAH9 FAM13A BTK TERT LRBA RSPH4A NSDHL SOX11 RYR1 TNNT2 KLRC4 SMARCD2 PIEZO2 SLC5A7 EVC KIF1A ACVRL1 ROR2 NCF4 IFT172 TNFRSF13B HLA-B CCDC65 FADD NOD2 CTLA4 FADD CACNA1C ITGA8 CYBC1 MGP VPS33A MYD88 COL13A1 DOCK6 MYSM1 DNAAF4 FLI1 FLNB MAN2B1 FRAS1 HLA-DQA1 SCNN1A IL21R IRF5 FASLG FANCB FAM20C COL6A3 KIAA0319L MCTP2 AP3D1 AGGF1 PIGN EMG1 ARVCF NUMA1 DLL4 RAG2 KIAA0586 NFKB2 TFRC NDN MAPK1 LAMA2 AGTR1 DONSON FANCB TGFB1 INPPL1 TNFSF11 XIAP RBPJ SLC18A3 UNG FLCN MKKS TRIM28 DNAAF6 SCN10A B3GLCT IL2RG CCDC103 CLCN7 PTPN22 GNPTAB SPP1 CXCR4 PLEC HLA-DPB1 RFXAP SCN11A NPM1 APOE LMNA PEX1 CARD11 USB1 CSPP1 ELN SOS2 CCDC103 MYH11 HLA-DQB1 TBC1D23 TTC21B DLL3 EFEMP2 MYO9A PORCN FLCN SCNN1G RBM10 CD79A IL12A RIPK4 RFC2 SLC22A18 FCGR2B RSPH4A IL2RG ACTA1 REST SRP54 RAF1 SNAP25 TSC1 CAV1 IRF8 CCNQ NCF2 GAS8 SMAD3 ZNHIT3 DHCR24 FOXP1 ZBTB24 TNFRSF13B PTPN11 NABP1 TERC B2M ELN SCNN1G LRRC56 FUCA1 SKIV2L JMJD1C PEX13 VANGL1 GATA4 CFI PDGFRB STAT6 TNFRSF13C FLNA TRIP13 ZBTB24 CEP55 NELFA NECTIN1 EPM2A TBL1XR1 CCND1 JAK3 NAA10 MYPN ZFPM2 DDR2 LMNA NME8 ECM1 ITCH CD3E NFKBIA DICER1 BUB1B SERPINF2 PRTN3 DNAI1 ZEB2 CYBB IDUA EPG5 TCIRG1 HOXD13 SNAI2 SLC35A1 CR2 SOX4 GAA TARS1 ELP1 ALMS1 ETFDH BMP2 ELN PLVAP SULT2B1 RAG2 TERT SLC25A24 SMPD1 TSC2 WDR19 GLE1 GATA6 RNU4ATAC PLP1 ARID1A ATP6V1E1 CFAP410 TCTN3 BRAF FCN3 STRA6 IL17RA PIEZO1 BNC1 PARN SCNN1G TBX1 CCBE1 EFEMP2 SLC52A3 BUB1 DCLRE1C CIITA MYLK LRRC6 CFAP298 ASCC1 DNAAF5 WNT4 LCK UMPS RNF168 USP9X CD3D INTU RUNX2 NGLY1 SPECC1L SEC24C GLDN FAS FLT4 IPW CCDC151 MRPS22 SYT2 SPAG1 LAMB2 GDF1 TERT DNAAF3 FLNC DNAAF1 SON PRKAG2 DPP9 STAT1 TECPR2 GPC3 RAG1 TNFRSF1B NUP88 AARS2 CEP120 RSPO2 RIPPLY2 LIFR MYSM1 GBA CYBA CBL TERT NPHP3 TRIP4 PHGDH VAMP1 NOTCH2 FASLG SMARCC2 G6PC3 KAT6B PIK3R1 CD81 CHST14 NOP10 IFT80 SHROOM4 SCNN1A CD19 SLC26A2 TGFB2 WDR35 SLC11A1 TTC25 RIPK1 UNC119 IGHM SAMD9 GTF2H5 GLI3 PML SLC29A3 RPGR SCNN1B ACE NKX2-5 DNAAF5 SCARB2 HFE FBLN5 RAG1 NEB DYNC2I1 GNS NFE2L2 RTEL1 CD19 DCTN4 FRAS1 ADNP IFT140 TGFB2 NPAP1 TRIP13 MESP2 CFTR ADAMTS2 DOCK8 RAG1 BRCA2 P4HTM MAN2B1 SLC26A2 CFAP300 RAB3GAP2 PAX6 JAK3 GTF2E2 NRAS SH3KBP1 RSPO2 ZNF341 BCL6 RFXAP SPEF2 MSN MCM4 CCND1 FARSB FUZ NIPBL BMPR2 STAT3 ACTA1 ZMYND10 IL7R SLC2A10 COQ7 NIPAL4 MLXIPL COL3A1 FREM2 ALDH18A1 LETM1 NKX2-5 TNFRSF1A MBTPS2 IKZF1 PIGN UBAC2 DNAI2 FBLN5 ACP5 ZAP70 RARA TPM2 NEK10 SFTPA1 ARMC4 NRAS AGT RPS15A CARMIL2 UBE2A EGFR SLC2A10 NAA10 CASP8 DNMT3B TAPBP RTEL1 EWSR1 PTEN ABCA12 SNX10 CSF2RA MESP2 SMARCA4 CBL AK2 KCNJ6 FIP1L1 HACD1 ETFA PNP ITGA7 ALOXE3 HLA-DPA1 HERC2 NEK8 SLC46A1 SMO LRRC8A IER3IP1 RARB TSC2 TLR4 TRAF3IP2 HPS6 ADA TRIP4 FAM111B FMO3 DPF2 RAPSN LBR MKRN3-AS1 VPS33A NOTCH2 DYNC2H1 IRF1 WNT3 DRC1 COPA PKHD1 ETFB CRLF1 ENG ELANE PANK2 GAS2L2 GTF2I CD247 PRKAR1A KLHL41 BMPER WAS PIGT RASA2 DNASE1L3 DHCR7 THOC2 TK2 IL10 IFNGR1 RASGRP1 CIITA NPM1 SLC26A2 RNF168 INHBA SPIDR EHMT1 CDC42 RB1 NHLRC1 TBX6 STAT3 MUC5B VPS13A NOTCH3 TMEM260 ASAH1 DNAH5 RPL10 FCGR3A WT1 FLCN INVS GLI1 COL5A1 TTC12 ITPR1 PTPN22 FLCN RARB CYBA GRIP1 IL17RA MKRN3 AFF4 SDCCAG8 IFIH1 CD79B GATA2 KAT6B TERC EIF2AK4 TAP2 HPS1 WASHC5 TRPV4 SERPINA1 SRSF2 PTPN11 CSF2RB STING1 NCF2 FSHR COL1A1 TBL2 ACTA1 CACNA1B PEPD SOX18 DNAAF3 DNAAF2 DNASE1 PPP2R1B WT1 DRC1 TCF3 CC2D2A CYBB PIK3R1 IL1RN NOP10 CCNQ TNFSF12 USP9X NHP2 LMNA NBN PYROXD1 IL7R CCDC114 HPGD BTK ELN PSAT1 BLNK CD55 GLE1 IDUA GATA6 USB1 SIK1 FLNA FLNB CLEC7A SMAD4 MAP3K20 KPTN RFX5 FOXE3 DKC1 COL2A1 POLA1 TRIP11 PGM3 GUSB AP3B1 COL3A1 SOX18 KRAS
HP:0008069: Neoplasm of the skin
Genes 286
CHEK2 CYLD DOCK8 PMVK XPC PIK3CA MVD MPLKIP KRT17 BLNK KEAP1 APC TERT CD79A PMS2 MLH1 EPCAM SNAI2 ERCC3 ERCC5 MC1R CASP10 KRAS SLCO2A1 IGHM NF2 PTEN LAMA3 GTF2H5 HRAS CDKN1B KRT14 TSC1 CTNNB1 DDB2 KIT GNA14 CTNNB1 PIK3CA KRT17 PIK3CA NRAS MLH3 PTCH1 XPC MSH2 MSH2 MSH3 IL6 CDKN2A TSC2 HRAS TNFRSF10B LMNA LZTS1 SEC23B AKT1 DCLRE1C ERCC3 TMC6 SPRED1 GTF2E2 MEN1 GJA1 RNF113A MSH2 BLM KIT NTHL1 CD28 KRT6B KIT KRT16 NF1 GJB2 NF1 COL7A1 CTSC WRN TGFBR2 TINF2 FASLG NRAS BRD4 NRAS MBTPS2 COL1A1 FAS NF1 IKBKG FGFR1 CARMIL2 SLC17A9 TMC8 KRAS TMC6 LAMB3 SEMA4A SDHC CDK4 PDGFB PTEN GJB6 PIK3CA DICER1 NF1 CYLD CTLA4 MDM2 MMP1 CDKN2A RNF6 VEGFC CXCR4 TRAF7 OCRL NRAS ERCC2 SUFU ERCC4 LRRC8A RASA1 CDKN1A PRKAR1A POLH PIK3CA GPR143 TP53 CDKN2C FAN1 NF2 MC1R PORCN ERCC5 FLCN MLH1 NRAS BAP1 MLH1 NLRP1 KLLN OCA2 TERT KLLN FLT4 SMO FH NF2 SASH1 XPA STAT1 IFNG BMPR1A ERCC3 KIT HRAS PTEN BAP1 STIM1 KRT9 ALX3 RASGRP1 NUTM1 NTHL1 CIB1 KIT PTCH1 TYR BMPR1A GJB2 ERCC3 PDGFRB HRAS FH NOTCH3 PTCH2 AKT1 KRT1 DMPK FH DKC1 APC PLCD1 RSPO1 SLC45A2 GJC2 LAMC2 TNFRSF4 SMARCB1 CDKN2A GJB4 MSH6 PMS1 ERCC2 COL7A1 GJB3 MMP1 ERCC2 LMNA SEC23B GJB2 ECM1 STK4 CD79B WRAP53 IGLL1 PTCH1 CD28 MLH1 TP53 AKT1 TP53 KRT5 KRAS RMRP PSENEN TARS1 CYLD DDB2 TYR KRT17 TRPV3 ERCC4 KIT APC SDHB SDHB MSH2 PRKAR1A BAP1 KDSR MSH6 WWOX FCN3 CDKN1B CXCR4 MSH6 TERC PTCH2 RECQL4 PMS2 ERCC2 FERMT1 RPS20 TCF3 POLH PIK3R1 USF3 PTEN FDPS CTLA4 BLM MITF PTEN PERP MEN1 WNT10A ING1 SMARCE1 HPGD FAS DCC APC SLX4 CDKN2A ERCC4 PDGFB COL7A1 PRKCD CIB1 MVK RECQL4 CDKN2B TNFRSF1B MSH3 SMO COL7A1 WNT10A FLT4 TGFBR2 SUFU SDHC BRAF TNFRSF1B IL7 SDHD
Protein Mutations 4
D299G P13K V600E V600K
SNP 0