SNPMiner Trials by Shray Alag


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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 1217
GATA6 COL13A1 DNAI1 EPG5 CSPP1 ABCA12 IL2RG PORCN TGFB2 COL1A1 SOX11 IL17RC PEX1 SLC12A6 CSF2RA TCF4 NAA10 TCTN3 INSR GAS8 TTC37 SERPINF2 BRAF DOCK6 RBPJ NOD2 CLEC7A PSAP VPS33A CTRC ATM TGFB1 BCL10 BAP1 CCDC39 STN1 CD8A OCRL DNAH11 CHD7 TINF2 FOXP3 ERCC6 RANBP2 CR2 C11ORF95 PIEZO2 LACC1 DSE SETBP1 ZMPSTE24 CD3D MALT1 ADGRG6 PLP1 TINF2 SPAG1 TAP2 AGA ERAP1 IL7R CFI RUNX2 LAT DNAAF4 MAP3K8 IL17RA CHST14 ADA DNASE1L3 DNAI2 DNAH5 FOXP1 TBX1 PIEZO1 DNAH1 NKX2-5 ELP1 DCLRE1C MTHFD1 LOX TSC2 FGFR3 SOS1 IRF8 CHAMP1 EFEMP2 WDR35 CCDC39 PIK3CD HABP2 SDCCAG8 PRKN CD81 TNFSF12 ARMC4 NCF2 SMN1 RMRP TBC1D23 CHRNA1 DSG1 GDF1 NKX2-1 POLR3H SMPD1 WDR60 ATP5F1A UBE2A GLE1 COL2A1 FLCN EIF2AK4 ACTA1 RPL10 IPW MYO5A MEFV NHP2 RYR1 PIGN DGCR2 NFKB1 CCBE1 DNAH11 FCGR2B SLC26A2 FBLN5 RAG1 SOX4 PTEN PTPN11 ARMC4 DCLRE1C PSAT1 STAT3 SERPINF2 STAT3 STAT3 PARN SEC24C TSC1 RAB3GAP2 GLI3 C1R GBA ALB ADAMTS3 PIGN UMPS HLA-DRB1 LEPR SLCO2A1 BLM ACVRL1 THOC2 MMP21 CARD11 CFTR USP9X DNMT3B COL6A1 TNFSF11 FAM20C RYR1 PPP2R1B PEPD HLA-DPA1 MUSK LMNA GATA6 FBLN5 LMOD3 DIS3L2 SNORD115-1 SCNN1G GNPTAB COL5A2 KIAA0319L CXCR4 IDUA CCR6 BMP2 SNX10 MED25 CFAP410 BCOR LTBP4 STRA6 TERT EDARADD POLE FOXF1 STAT1 LIPN DRC1 VPS13A NFKB1 STK36 PTPN11 CCDC22 SLC1A4 SULT2B1 PPP1CB TAP1 IFT80 CFAP298 ZBTB24 GATA4 PIK3R1 DNAH5 GLI1 TGFB3 HPS1 DNASE1 WDR19 CEP55 ELN SMPD1 ICOS DCTN4 NUMA1 DKC1 LIG4 SMAD4 FBLN5 ACADVL PRPS1 BCL6 GPC3 AGRN RIPK1 FMO3 SNAP25 CSF2RA MUSK MAGEL2 HGSNAT STAT5B DNAAF5 GBA TTC25 CEP57 RAB27A FGF20 SLC2A10 PMM2 DGCR6 RREB1 ASAH1 CCR6 LFNG SLC35A1 IKBKB PGM3 CCDC40 BICC1 EPHB4 PEPD NSDHL MCM4 COG4 SPINK5 HLA-DRB1 WRN BMP15 KCNJ6 GP1BB GLI3 STING1 GPC3 NABP1 RARB ARHGAP31 MAPK1 ERBB2 B2M POLA1 NBN KRAS CYBC1 CFB STAT3 SP110 MCIDAS PRTN3 EOGT IL2RB MEFV MKKS PIGL ATM TERT HOXD13 ENG CHAT DICER1 DGCR8 PKD1L1 MIF FRAS1 DNAJB13 TERT ZMYND10 MKRN3-AS1 TPM2 CD247 SCNN1A COL3A1 TRAF3IP2 SMPD1 MITF RSPH4A FLI1 COLQ LETM1 NFE2L2 ITCH LPIN2 TBCE VAMP1 TPP2 PIK3CA ZBTB24 ZAP70 CD3G CASP8 NR2F2 H19 OSTM1 COPA MESP2 PKHD1 BNC1 PRKAR1A CTCF RBM10 GLI3 GAA PRKAG2 SLC46A1 CHRM3 MYSM1 DNAI2 SLC29A3 CD3E SPAG1 RELA COL11A2 PML TNFRSF13C RSPH3 SCNN1G SFTPA2 SH3KBP1 CD79B SRP54 SMAD3 WNT4 LMNA CHRNG EPG5 KITLG BACH2 UBB SPIDR MAP3K20 FUZ GREB1L GATA6 TERT GSN KIF11 DHCR24 RFX5 IKBKB LEPR KEAP1 TERC EDNRB CRTAP BCL2 TRPS1 STAT6 SLC35A1 TERC CHRNG INVS COG6 CASP8 CARD11 DNAAF4 RRAS CLIP2 USB1 PYROXD1 FSHR PARN LYST RPL10 WDR60 RFXAP TCF3 PSMC3IP MECP2 IGH CTSC HLA-B TAPBP NOTCH2 GRIP1 GNS DLL3 CEP120 CBL SCNN1B GTF2E2 PARN GPKOW ATP11A TMEM260 TNFRSF13C CEP120 IL21R RFXANK CAV1 TBC1D24 SLC25A24 UBAC2 DHCR7 SGSH GATA4 PNP NFIX USB1 TSC2 TRIP13 IDUA IL23R RFXAP ADA RAG2 DRC1 ADNP NGLY1 WDR60 FLNA POU6F2 BCOR IL2RG NCF1 ROR2 SCN9A SCNN1A TGFB2 NSD2 INTU GTF2H5 SON MYH11 TARS1 LIFR BRAF RET OFD1 ARHGAP31 NOTCH2 SOX18 CTLA4 HELLS ZMYND10 NDN EFEMP2 ALOXE3 NFKBIA PLEC SFTPC TRIP13 MPLKIP RAG1 MYLK IGH USP9X PIGN XIAP NXN TBX5 RASGRP1 NHLRC2 ITGA8 ACTA1 DLL4 ATP6V1E1 TNFRSF11A DSP PCNT CD79B HLA-B GTF2I SMARCD2 EMG1 IL2RA PTPN22 IRF5 BGN ARID1B RSPH9 SAMD9 GUSB BTNL2 TNFRSF13B CYBA DKC1 KIAA0556 ALG12 PTH1R SLC26A2 GPR35 NUP107 HPS4 TBX1 CR2 TRPV4 KRAS PRKCD SLC11A1 EGFR NSMCE3 PLG UNG SGCG RAPSN DNAAF6 RPS15A APOE LYST ACTA2 SNRPN MESP2 TCIRG1 TBC1D24 TIMM8A RAG2 MUC5B IL17F NPAP1 HYDIN SERPINA1 IRF5 FAS CIITA KPTN CACNA1C PEX13 PLCG2 GATA6 COL6A2 DICER1 CTC1 LRRC6 SFTPB FADD TTC7A RNF168 FARSB HYLS1 NPHP3 IFNGR1 GAS8 CFTR SLC34A2 FLCN ALG9 AGTR1 WDR19 TRPV3 IGLL1 CRKL TMEM94 SLC26A2 CLPB FREM2 MYOD1 WDR34 SCNN1B CCN2 PRSS1 TBX6 TSC1 KLHL40 DDR2 CCDC103 MEFV PDGFRA IL2RG NCF4 WT1 RYR1 CACNA1B DYNC2H1 POLR3A DNAAF2 TRAIP CLCA4 JAK3 OFD1 IGHM NECTIN1 IER3IP1 TNFRSF1B DCLRE1C LGI4 BCR NOTCH3 SCARB2 EVC2 IL12A LRRC56 WT1 FASLG RSPO2 PWRN1 HSPG2 RAG2 BUB1 NKX2-1 ESS2 RNU4ATAC IRAK1 ELN MST1 HYDIN SLC2A10 RAF1 TGFBR2 IL12A-AS1 MRPS22 IRAK4 MYH7 DNAH9 NELFA TNFSF12 MYH3 GPC4 SMAD4 TINF2 GRHL3 DOK7 POLA1 ATP6V0A2 TRIM28 LCK DNAI1 SMARCA4 ORC6 CSPP1 MASP2 AKT1 BMPR2 SLC5A7 RSPH3 NAB2 CRELD1 TGFBR2 NIPAL4 LZTR1 G6PC3 CCNO DVL3 FAM13A SFTPC SLC52A3 UFD1 NHP2 EPM2A SCNN1A KIAA0586 MYSM1 RIT1 UNC119 CCDC65 RAG1 ARID2 LRBA FLNB B3GLCT FGFR1 CDCA7 GDF1 FLNA DCLRE1C DHCR24 RAG1 TPM3 SERPINH1 BRCA2 HELLPAR NFKB2 FBN1 NOP10 SFTPA2 FGFR3 JMJD1C RAF1 CD46 RAG2 FAT4 MBTPS2 FCGR2A PHGDH SNORD116-1 WAS SLC18A3 CFTR KDM6A TGFBR1 ICOS SLC25A22 RPGR HLA-DRB1 NCF1 ARSB MKS1 NME8 CITED2 EWSR1 ALMS1 HES7 TSC1 INHBA CR2 IRF1 GRIP1 NEB GFI1 SERPINA1 ARID1A TAF1 NPHP3 HACD1 RNF125 EVC LAMTOR2 SMARCB1 NEK1 CCND1 VHL GLA IDUA CDC42 TERT LAMB2 WDR34 CCDC151 CYP2A6 FOXE1 LEP TECPR2 RSPH4A SPECC1L BIRC3 DYNC2H1 ABL1 PRKDC GLB1 IRF2BP2 TYK2 TCIRG1 STAT4 LRRC56 CFTR TNFRSF13B FRAS1 CORO1A STK11 DNAAF6 IL1RN NRAS PHGDH FCGR3A ASCC1 BTK GMNN ETFA ABCA12 RAC1 COMT NAA10 ACP5 FBN1 RNF168 CD19 GBA LAMA2 NAA10 NFKB2 WAS NFKB2 AK2 MGP SOX10 PTEN GBA RNF113A DNAJB13 FAT4 BLM INPPL1 TNFRSF1A FADD RPGR DNAL1 CFAP298 GATA2 NUP88 BTK REST ZBTB16 FUCA1 DNAAF1 CSF2RB AGGF1 RAG1 ZMPSTE24 GAS2L2 FANCB PTPN22 INPPL1 ALPL MGP HPGD C1QA ELN SLC25A1 DNAAF3 RAG2 TGFB1 FCN3 CAV1 RSPH9 CYBB FANCB BUB3 FLCN GPC6 SMARCE1 ELN COL6A3 DYNC2LI1 AICDA CCN2 ELANE MEFV TERC CCR1 PAX3 CCDC103 ERCC2 KAT6B TRIP11 HLA-DRB1 ITGA8 FASLG KRAS PAX6 CD3E CD19 SMARCC2 WASHC5 TAPT1 SLC18A3 HLA-DRB1 WRAP53 CEP57 MANBA DNAAF5 RFC2 SMAD3 ERCC3 WNT4 CD3D WIPF1 MS4A1 TERC BCL11B CFTR TGFB1 SHROOM4 BLNK CCNQ IL7R MYL2 RHOH CTLA4 RARA RARB RIPK4 CCDC40 EP300 NEK9 IFIH1 SOX18 FLCN SCN10A KIF1A GNPTAB CRELD1 SCNN1B JAK3 IFT140 DOCK8 MBTPS2 ZFPM2 SPINK1 HLA-DRB1 PRKCD ACTA1 NGLY1 MARS1 FOXE3 CCNO FOXC2 RSPH1 KLRC4 PIGT NPM1 SAMD9L MYBPC3 LAMTOR2 ELN TK2 GUSB CARMIL2 ETFDH NRAS LRRC8A ARID1B SELENON LIMK1 FSHR FIP1L1 TBL2 RIT1 ACE RELB SDR9C7 NADK2 PERP SFTPC CHRND AARS2 SLC22A18 ITPR1 TBL1XR1 IL2RG CDC45 ALDH18A1 ICOS STRA6 FCGR2A MARS1 AFF4 KIAA0586 WNT3 IL7R RASA2 RTEL1 HPS6 HERC2 DONSON ERF TP53 IL17RA SCNN1G CLCN7 SCN11A SFTPB WT1 HIRA DPM2 NCF2 TP53 AFF4 EXOSC9 CCBE1 TRIP4 MYH3 NEK8 ELANE NME8 SLC35C1 DNAAF1 DPF2 KMT2D RIPPLY2 CD79A WT1 CCDC114 NBN BLNK TIRAP PCGF2 AGT COL2A1 PLVAP FAS ADAMTS2 DHCR7 DNAAF2 BMPER BUB1B IFT172 RSPH1 CTLA4 HLA-DPB1 CD81 PGM3 NOTCH1 ELN ADA EGFR RLIM NCF4 RB1 STAT1 FLNB CCDC114 CFI RFXANK RSPO2 MSN C4A TNFRSF13B COQ7 MINPP1 PTPN22 CD28 CIITA GALNS NR5A1 DPP9 CC2D2A DNMT3B TTC21B ITGA3 BMPR2 CFAP300 STX1A EHMT1 ITGA7 MFAP5 BTK MYO9A TTC25 SPEF2 TNFRSF13C MKRN3 MAT2A SKIV2L ZNHIT3 SOS2 SFTPA1 CXCR4 PIK3R1 RRAS2 RTEL1 RTEL1 COL3A1 CHST14 TSC1 TRIP11 CD55 FOXJ1 SLC7A7 TBX1 CYTB TLR4 SLC26A2 CYP4F22 COG4 AP3D1 ITCH MCTP2 CD79A GAS2L2 IL10 GLDN NOTCH3 ALOX12B RAG1 ALMS1 RCBTB1 GBA TFRC TSC2 CASP10 NKX2-5 PNP DYNC2LI1 TRIM28 STAT4 ARVCF SH2D1A IL21 ZAP70 PDGFRB RNU4ATAC DNAAF3 P4HTM KLHL41 CCNQ AGA BCOR MYD88 COL5A1 ABCA3 JAG1 TREX1 IGLL1 GLE1 IFT81 LTBP3 ASAH1 NPM1 IKZF1 DICER1 SLC7A7 CYBA HFE CBL RFX5 MS4A1 WNT3 JAGN1 PUF60 ZEB2 NAGLU BTNL2 FAM111B CFAP221 MLXIPL HRAS COL13A1 WDR35 SIK1 TRIP4 PWAR1 ECM1 LMNA TGM1 COL11A2 IRAK4 PRKG1 SELENON FGF20 CD19 IKBKG TGFBR1 DLL3 ELP1 IFT80 BAZ1B CTLA4 REN CHRNG ABCA3 ZNF341 WDR34 EXTL3 KAT6B TERT XIAP MYRF SPP1 CSF2RB CYBB PIK3R1 CCND1 NOP10 MUC5B FBN1 PRSS2 PLOD1 SYT2 KAT6B IGHM PANK2 IFT43 MRAS FAS CFH PTPRC MESP2 FOXP1 FLNA TBCD LBR VPS33A SMN1 IL6 NIPBL LEP NHLRC1 CCDC151 DOCK8 LRRC6 GTF2IRD1 SNAI2 CREBBP AP3B1 ETFB VANGL1 LMNA PRKAR1A A2ML1 CDT1 CCDC65
HP:0008069: Neoplasm of the skin
Genes 277
TGFBR2 DOCK8 KRT17 PORCN ERCC4 OCA2 PTEN SDHC SUFU RNF6 KRT6B PIK3CA TNFRSF1B DDB2 KRT14 SDHD FASLG COL1A1 CARMIL2 LRRC8A BAP1 NF1 FLT4 NRAS LAMC2 RSPO1 OCRL TP53 NTHL1 PTEN NF1 FH LAMB3 COL7A1 PERP FH NRAS TINF2 SLC17A9 RECQL4 PTCH2 RPS20 CD79B KRT17 BMPR1A MLH1 NF1 GJB3 LZTS1 MSH3 SUFU GNA14 IKBKG PTCH1 KIT HRAS BRAF APC PRKAR1A MMP1 KRT17 TP53 KEAP1 SMO PTCH1 ERCC5 MVD TERC PTEN SEMA4A CD79A SMARCB1 GJB2 KIT FLT4 KRT9 MC1R SEC23B VEGFC ERCC3 FGFR1 BLNK TNFRSF1B MSH6 TCF3 PLCD1 MEN1 FAS KRAS CTSC RECQL4 CD28 CDKN2B WWOX CTLA4 COL7A1 HRAS CDKN2A TP53 WNT10A NLRP1 ERCC2 IFNG MBTPS2 MDM2 KRAS GTF2E2 MLH1 STAT1 TMC8 SNAI2 BMPR1A CDKN1A KDSR CD28 CYLD ERCC2 ERCC4 NRAS DCLRE1C SLC45A2 PMS1 MITF MSH3 NUTM1 IL7 PIK3CA ERCC3 SDHC PTCH2 MLH1 CIB1 MSH6 CDKN2A NF1 CIB1 TNFRSF10B NF2 APC SLCO2A1 BLM GJA1 GTF2H5 PIK3CA TARS1 CXCR4 CDK4 PIK3R1 CYLD GJC2 GPR143 DDB2 LAMA3 SDHB MVK PMVK PIK3CA EPCAM GJB2 NF2 MSH2 WRAP53 MEN1 RASA1 KRAS LMNA CTNNB1 CDKN1B POLH GJB6 MPLKIP IL6 CXCR4 NOTCH3 TSC2 AKT1 PSENEN PMS2 RASGRP1 CASP10 ERCC3 MC1R SDHB KIT RMRP PTEN TGFBR2 PDGFRB CYLD RNF113A ALX3 BLM CTNNB1 FH KIT STIM1 TYR TMC6 HRAS CHEK2 KRT1 DICER1 DKC1 MSH2 COL7A1 NRAS PTEN FDPS PRKCD NRAS CDKN2A XPC WNT10A SEC23B XPA CDKN1B ERCC2 HPGD ERCC5 SLX4 TNFRSF4 FCN3 MMP1 ECM1 USF3 LMNA XPC NTHL1 KRT16 KIT PDGFB FAN1 ERCC4 SPRED1 PDGFB ING1 FERMT1 MLH1 KLLN ERCC2 GJB4 MSH6 APC TERT POLH BRD4 WRN SASH1 TMC6 MSH2 HRAS APC PMS2 ERCC3 KIT CTLA4 KLLN IGHM STK4 FAS GJB2 MLH3 TRPV3 CDKN2C IGLL1 TYR MSH2 NF2 COL7A1 AKT1 DCC FLCN PTCH1 TSC1 CDKN2A KRT5 PRKAR1A
Protein Mutations 4
D299G P13K V600E V600K
SNP 0