SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation K55R

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 3 clinical trials

Clinical Trials


1 The Role of the Functionally Relevant Single Nucleotide Polymorphisms CYP2J2 -50G>T (CYP2J2 7) and EPHX2 9846A>G (EPHX2 K55R) in Human Endothelial Function

Background: - The endothelium is the inner lining of blood vessels. The cells in this lining help regulate blood flow and immune system function. Problems with endothelial cells can contribute to heart disease, high blood pressure, and diabetes. Certain genes or parts of genes may be related to problems with endothelial function. Researchers want to study healthy adults who have genes that may affect their endothelial function. More information on these genes may provide more information on genetic risk for certain diseases. Objectives: - To study healthy adults who have genetic markers related to endothelial cell problems. Eligibility: - Healthy volunteers between 18 and 65 years of age. - Current participants of the Environmental Polymorphisms Registry and have certain genes related to endothelial cell problems. Design: - Participants will have a single study visit to collect information and samples. - Participants will be screened with a physical exam and medical history. Blood and urine samples will be collected. - Participants will have an ultrasound of the artery in the arm and will be given a short-acting medication called nitroglycerin to study blood flow and blood pressure.

NCT01524549
Conditions
  1. Cardiovascular Disease
MeSH:Cardiovascular Diseases
HPO:Abnormality of the cardiovascular system

The Role of the Functionally Relevant Single Nucleotide Polymorphisms CYP2J2 -50G>T (CYP2J2 7) and EPHX2 9846A>G (EPHX2 K55R) in Human Endothelial Function. --- K55R ---

- INCLUSION CRITERIA: - Participant of the Environmental Polymorphisms Registry and current contact information available - Genotype information available for relevant CYP2J2 and EPHX2 polymorphisms, which indicates: - WT for EPHX2 K55R and WT for CYP2J2 7 - WT for EPHX2 K55R and heterozygous for CYP2J2 7 - WT for EPHX2 K55R and homozygous for CYP2J2 7 - WT for CYP2J2 7 and heterozygous for EPHX2 K55R (N=30) - WT for CYP2J2 7 and homozygous for EPHX2 K55R (N=30) - Age 18-70 years - Willing and able to provide informed consent - Able to comply with all protocol procedures EXCLUSION CRITERIA: - Currently pregnant or breast feeding - Hospitalized for a cardiovascular disease or stroke event within the previous 3 months - Current use of long-acting nitrates (e.g., isosorbide mononitrate, isosorbide dinitrate) - Current use of medications taken for hypertension. --- K55R ---

- INCLUSION CRITERIA: - Participant of the Environmental Polymorphisms Registry and current contact information available - Genotype information available for relevant CYP2J2 and EPHX2 polymorphisms, which indicates: - WT for EPHX2 K55R and WT for CYP2J2 7 - WT for EPHX2 K55R and heterozygous for CYP2J2 7 - WT for EPHX2 K55R and homozygous for CYP2J2 7 - WT for CYP2J2 7 and heterozygous for EPHX2 K55R (N=30) - WT for CYP2J2 7 and homozygous for EPHX2 K55R (N=30) - Age 18-70 years - Willing and able to provide informed consent - Able to comply with all protocol procedures EXCLUSION CRITERIA: - Currently pregnant or breast feeding - Hospitalized for a cardiovascular disease or stroke event within the previous 3 months - Current use of long-acting nitrates (e.g., isosorbide mononitrate, isosorbide dinitrate) - Current use of medications taken for hypertension. --- K55R --- --- K55R ---

- INCLUSION CRITERIA: - Participant of the Environmental Polymorphisms Registry and current contact information available - Genotype information available for relevant CYP2J2 and EPHX2 polymorphisms, which indicates: - WT for EPHX2 K55R and WT for CYP2J2 7 - WT for EPHX2 K55R and heterozygous for CYP2J2 7 - WT for EPHX2 K55R and homozygous for CYP2J2 7 - WT for CYP2J2 7 and heterozygous for EPHX2 K55R (N=30) - WT for CYP2J2 7 and homozygous for EPHX2 K55R (N=30) - Age 18-70 years - Willing and able to provide informed consent - Able to comply with all protocol procedures EXCLUSION CRITERIA: - Currently pregnant or breast feeding - Hospitalized for a cardiovascular disease or stroke event within the previous 3 months - Current use of long-acting nitrates (e.g., isosorbide mononitrate, isosorbide dinitrate) - Current use of medications taken for hypertension. --- K55R --- --- K55R --- --- K55R ---

- INCLUSION CRITERIA: - Participant of the Environmental Polymorphisms Registry and current contact information available - Genotype information available for relevant CYP2J2 and EPHX2 polymorphisms, which indicates: - WT for EPHX2 K55R and WT for CYP2J2 7 - WT for EPHX2 K55R and heterozygous for CYP2J2 7 - WT for EPHX2 K55R and homozygous for CYP2J2 7 - WT for CYP2J2 7 and heterozygous for EPHX2 K55R (N=30) - WT for CYP2J2 7 and homozygous for EPHX2 K55R (N=30) - Age 18-70 years - Willing and able to provide informed consent - Able to comply with all protocol procedures EXCLUSION CRITERIA: - Currently pregnant or breast feeding - Hospitalized for a cardiovascular disease or stroke event within the previous 3 months - Current use of long-acting nitrates (e.g., isosorbide mononitrate, isosorbide dinitrate) - Current use of medications taken for hypertension. --- K55R --- --- K55R --- --- K55R --- --- K55R ---

- INCLUSION CRITERIA: - Participant of the Environmental Polymorphisms Registry and current contact information available - Genotype information available for relevant CYP2J2 and EPHX2 polymorphisms, which indicates: - WT for EPHX2 K55R and WT for CYP2J2 7 - WT for EPHX2 K55R and heterozygous for CYP2J2 7 - WT for EPHX2 K55R and homozygous for CYP2J2 7 - WT for CYP2J2 7 and heterozygous for EPHX2 K55R (N=30) - WT for CYP2J2 7 and homozygous for EPHX2 K55R (N=30) - Age 18-70 years - Willing and able to provide informed consent - Able to comply with all protocol procedures EXCLUSION CRITERIA: - Currently pregnant or breast feeding - Hospitalized for a cardiovascular disease or stroke event within the previous 3 months - Current use of long-acting nitrates (e.g., isosorbide mononitrate, isosorbide dinitrate) - Current use of medications taken for hypertension. --- K55R --- --- K55R --- --- K55R --- --- K55R --- --- K55R ---

This is a cross-sectional, controlled study designed to investigate the association of two single nucleotide polymorphisms (SNPs) - a cytochrome P450 (CYP) epoxygenase gene CYP2J2 SNP, CYP2J2 7, and a soluble epoxide hydrolase (sEH) gene EPHX2 SNP encoding a K55R variant - with altered endothelial function in humans. --- K55R ---

Healthy adults, aged 18-65 years, who are either carriers of CYP2J2 7 or EPHX2 K55R, or who are wild type (WT) with respect to either SNP will be recruited into a total of five genotype groups. --- K55R ---

The primary objective of the study is to determine whether individuals who are homozygous or heterozygous for the CYP2J2 7 or EPHX2 K55R SNPs exhibit altered endothelial function compared with individuals who are WT for that SNP. --- K55R ---

Primary Outcomes

Description: -Change in digital pulsatile pressure-Endothelium-independent vasodilation-Change in brachial artery blood flow velocity -Serum levels of inflammatory markers -Serum and urine levels of cytochrome P450 epoxygenase pathway biomarkers

Measure: -Change in digital pulsatile pressure-Endothelium-independent vasodilation-Change in brachial artery blood flow velocity -Serum levels of inflammatory markers -Serum and urine levels of cytochrome P450 epoxygenase pathway biomarkers@...

Time: analysis

Secondary Outcomes

Description: -Change in digital pulsatile pressure-Endothelium-independent vasodilation-Change in brachial artery blood flow velocity -Serum levels of inflammatory markers -Serum and urine levels of cytochrome P450 epoxygenase pathway biomarkers

Measure: -Change in digital pulsatile pressure-Endothelium-independent vasodilation-Change in brachial artery blood flow velocity -Serum levels of inflammatory markers -Serum and urine levels of cytochrome P450 epoxygenase pathway biomarkers@...

Time: analysis

2 Role of Epoxyeicosatrienoic Acids in Chronic Allograft Nephropathy

Endothelial lesions within the transplanted kidney are a major determinant of chronic allograft nephropathy. Epoxyeicosatrienoic acids (EETs) are endothelium-derived hyperpolarizing factors with anti-inflammatory, antiproliferative and vasodilator properties. The main goal of the investigators' study is to evaluate whether genetic polymorphisms of specific enzymes responsible for the bioavailability of EETs are associated with post-transplant kidney function. To this end, 80 kidney transplant recipients will be included. Prespecified genetic polymorphisms of CYP 2J2, CYP 2C8, CYP 2C9, CYP 2C9, CYP 2C19 and EPHX2 will be determined. Kidney function will be recorded 3, 6, 12 and 36 months after transplantation. Flow-mediated dilatation, EETs and circulating biomarkers of endothelial function will be measured in the radial artery. The expected results of this study to provide preliminary evidence supporting a beneficial role of an increase in the bioavailability of EETs in kidney transplant recipients.

NCT02555566
Conditions
  1. Kidney Transplant Recipients
Interventions
  1. Procedure: Blood sampling
  2. Procedure: flow-mediated distal stimulation of the forearm radial artery by cutaneous heating
MeSH:Kidney Diseases
HPO:Abnormality of the kidney Nephropathy

Difference between patients with the EPHX2 Lys55Arg polymorphism and patients without in estimated Glomerular Filtration Rate (eGFR). --- Lys55Arg ---

Primary Outcomes

Description: eGFR Scores range from 0 [kidney failure] to >90 [normal function]

Measure: Difference between patients with the EPHX2 Lys55Arg polymorphism and patients without in estimated Glomerular Filtration Rate (eGFR)

Time: 12 Months after transplantation

Secondary Outcomes

Description: eGFR Scores range from 0 [kidney failure] to >90 [normal function]

Measure: Difference between patients with the EPHX2 Lys55Arg polymorphism and patients without in estimated Glomerular Filtration Rate (eGFR)

Time: 3 Months after transplantation

Description: eGFR Scores range from 0 [kidney failure] to >90 [normal function]

Measure: Difference between patients with the EPHX2 Lys55Arg polymorphism and patients without in estimated Glomerular Filtration Rate (eGFR)

Time: 6 Months after transplantation

Description: eGFR Scores range from 0 [kidney failure] to >90 [normal function]

Measure: Difference between patients with the EPHX2 Lys55Arg polymorphism and patients without in estimated Glomerular Filtration Rate (eGFR)

Time: 36 Months after transplantation

Description: eGFR Scores range from 0 [kidney failure] to >90 [normal function]

Measure: Difference between patients with specified polymorphisms and patients without in estimated Glomerular Filtration Rate (eGFR)

Time: 3 Months after transplantation

Description: eGFR Scores range from 0 [kidney failure] to >90 [normal function]

Measure: Difference between patients with specified polymorphisms and patients without in estimated Glomerular Filtration Rate (eGFR)

Time: 6 Months after transplantation

Description: eGFR Scores range from 0 [kidney failure] to >90 [normal function]

Measure: Difference between patients with specified polymorphisms and patients without in estimated Glomerular Filtration Rate (eGFR)

Time: 12 Months after transplantation

Description: eGFR Scores range from 0 [kidney failure] to >90 [normal function]

Measure: Difference between patients with specified polymorphisms and patients without in estimated Glomerular Filtration Rate (eGFR)

Time: 36 Months after transplantation

Description: EEts plasma concentration is measured using liquid chromatography coupled to tandem mass spectrometry before and after distal cutaneous heating. Unit is ng per mL

Measure: Difference between blood EETs concentration at baseline and after distal cutaneous heating for patients with the specified polymorphisms.

Time: Day 1

Description: EEts plasma concentration is measured using liquid chromatography coupled to tandem mass spectrometry before and after distal cutaneous heating. Unit is ng per mL

Measure: Difference between blood EETs concentration at baseline and after distal cutaneous heating for patients without the specified polymorphisms.

Time: Day 1

Description: Variation of diameter of the radial artery is measured in millimeter.

Measure: Difference between variation of diameter of the forearm radial artery after distal cutaneous heating for patients with the specified polymorphisms.

Time: Day 1

Description: Variation of diameter of the radial artery is measured in millimeter.

Measure: Difference between variation of diameter of the forearm radial artery after distal cutaneous heating for patients without the specified polymorphisms.

Time: Day 1

3 Cytochrome P450 Epoxygenase Pathway Regulation of Macrophage Function

Background: Respiratory diseases affect more than 1 billion people worldwide. They are a growing public health concern. The lungs are constantly exposed to environmental factors such as dust, fumes, microbes, and pollutants. But much is still not known about how these pollutants lead to respiratory illnesses. Researchers want to collect samples from lungs and blood to see how genetics and environmental pollutants affect cellular responses or functioning. Objectives: To study how cytochrome P450 epoxygenase pathway enzymes affect macrophage function in the lungs and inflammatory responses. Eligibility: Adults ages 18 65 who can have a bronchoscopy. Design: All study visits will take place at the NIEHS Clinical Research Unit in Research Triangle Park, NC. At study visit 1, participants will be screened with medical history and physical exam. They will have blood and urine tests. They will take tests that measure their lung function. They will answer questionnaires. Before the visit, they will be given a list of medicines they cannot take. They also must not have caffeine on the day of their visit. The visit will last about 3 hours. At study visit 2, participants will give blood samples. They will undergo bronchoscopy. For this, they will get an intravenous line in a vein to get sedatives. Their airways will be numbed. Cells will be collected from their lungs. They will fast for 8 hours before the visit. They must have someone else drive them home from the visit. The visit will last about 3-4 hours. Participants will get a follow-up phone call about 1 day after study visit 2.

NCT02743468
Conditions
  1. Polymorphism
  2. Lung Inflammation
MeSH:Pneumonia Inflammation
HPO:Pneumonia

- INCLUSION CRITERIA: 1. Age 18 to 65 years, inclusive (males and females) 2. Able to travel to the NIEHS CRU for required study visits 3. Able to present a valid government-issued form of identification for entry to the NIEHS campus 4. Able to fast for 8 hours prior to the visit where bronchoscopy occurs 5. Has a responsible party who is willing and able to attend Visit 2 and drive the participant away from the CRU after completion of Visit 2, if the participant elects to undergo conscious sedation 6. Genotype information available for relevant CYP2J2 and EPHX2 polymorphisms, which indicates: - Wild type with respect to EPHX2 K55R, EPHX2 R287Q, and CYP2J2*7; or - Homozygous for EPHX2 K55R (wild type for the other SNPs); or - Homozygous for EPHX2 R287Q (wild type for the other SNPs); or - Homozygous for CYP2J2*7 (wild type for the other SNPs) EXCLUSION CRITERIA: 1. --- K55R ---

- INCLUSION CRITERIA: 1. Age 18 to 65 years, inclusive (males and females) 2. Able to travel to the NIEHS CRU for required study visits 3. Able to present a valid government-issued form of identification for entry to the NIEHS campus 4. Able to fast for 8 hours prior to the visit where bronchoscopy occurs 5. Has a responsible party who is willing and able to attend Visit 2 and drive the participant away from the CRU after completion of Visit 2, if the participant elects to undergo conscious sedation 6. Genotype information available for relevant CYP2J2 and EPHX2 polymorphisms, which indicates: - Wild type with respect to EPHX2 K55R, EPHX2 R287Q, and CYP2J2*7; or - Homozygous for EPHX2 K55R (wild type for the other SNPs); or - Homozygous for EPHX2 R287Q (wild type for the other SNPs); or - Homozygous for CYP2J2*7 (wild type for the other SNPs) EXCLUSION CRITERIA: 1. --- K55R --- --- R287Q --- --- K55R ---

EXCL 4. Any food or fluids for 8 hours prior to the bronchoscopy - INCLUSION CRITERIA: 1. Age 18 to 65 years, inclusive (males and females) 2. Able to travel to the NIEHS CRU for required study visits 3. Able to present a valid government-issued form of identification for entry to the NIEHS campus 4. Able to fast for 8 hours prior to the visit where bronchoscopy occurs 5. Has a responsible party who is willing and able to attend Visit 2 and drive the participant away from the CRU after completion of Visit 2, if the participant elects to undergo conscious sedation 6. Genotype information available for relevant CYP2J2 and EPHX2 polymorphisms, which indicates: - Wild type with respect to EPHX2 K55R, EPHX2 R287Q, and CYP2J2*7; or - Homozygous for EPHX2 K55R (wild type for the other SNPs); or - Homozygous for EPHX2 R287Q (wild type for the other SNPs); or - Homozygous for CYP2J2*7 (wild type for the other SNPs) EXCLUSION CRITERIA: 1. --- K55R ---

EXCL 4. Any food or fluids for 8 hours prior to the bronchoscopy - INCLUSION CRITERIA: 1. Age 18 to 65 years, inclusive (males and females) 2. Able to travel to the NIEHS CRU for required study visits 3. Able to present a valid government-issued form of identification for entry to the NIEHS campus 4. Able to fast for 8 hours prior to the visit where bronchoscopy occurs 5. Has a responsible party who is willing and able to attend Visit 2 and drive the participant away from the CRU after completion of Visit 2, if the participant elects to undergo conscious sedation 6. Genotype information available for relevant CYP2J2 and EPHX2 polymorphisms, which indicates: - Wild type with respect to EPHX2 K55R, EPHX2 R287Q, and CYP2J2*7; or - Homozygous for EPHX2 K55R (wild type for the other SNPs); or - Homozygous for EPHX2 R287Q (wild type for the other SNPs); or - Homozygous for CYP2J2*7 (wild type for the other SNPs) EXCLUSION CRITERIA: 1. --- K55R --- --- R287Q --- --- K55R ---

Primary Outcomes

Description: The primary outcome measure will evaluate macrophage phagocytosis of fluorescein isothiocyanate (FITC)-labeled beads and bacteria (Streptococcus pneumoniae) in an ex vivo assay, comparing alveolar macrophages from groups of individuals with and without EPHX2 and CYP2J2 polymorphisms of interest.

Measure: The primary outcome measure will evaluate macrophage phagocytosis of fluorescein isothiocyanate (FITC)-labeled beads and bacteria (Streptococcus pneumoniae) in an ex vivo assay, comparing alveolar macrophages from groups of individuals with and ...

Time: Cross-sectional

Secondary Outcomes

Description: Macrophage phagocytosis of FITC-labeled beads and bacteria (S. pneumoniae) in an ex vivo assay, comparing peripheral blood monocyte derived macrophages from groups of individuals with and without EPHX2 and CYP2J2 polymorphisms of interest

Measure: A

Time: Cross-sectional

Description: Ex vivo gene expression of inflammatory receptors [e.g., toll-like receptor (TLR) 2 and peptidoglycan recognition protein (PGLYRP) 1] and cytokines [e.g., interleukin (IL) -1beta, IL-6, and tumor necrosis factor (TNF)-alpha] in stimulated macrophages (alveolar and peripheral blood monocytederived)

Measure: B

Time: Cross-sectional

Description: Assessment of the lower airway microbiome from BAL fluid

Measure: C

Time: Cross-sectional

Description: Eicosanoid [EET and dihydroxyeicosatrienoic acids (DHET)] and cytokine (e.g., IL- 1beta, IL-6, and TNF-alpha) levels in serum and BAL

Measure: D

Time: Cross-sectional

Description: Differences in effect of functional polymorphisms on macrophage function, comparing interferon (IFN)- gamma-derived (M1) versusIL-4-derived (M2) macrophages

Measure: E

Time: Cross-sectional


HPO Nodes


HP:0000077: Abnormality of the kidney
Genes 1793
SMARCA4 H19 RPS19 WT1 ND4 MMUT EDNRB NDUFS6 LPIN2 PGM3 FXYD2 FANCB PGAM2 NTRK1 KCTD1 GP1BB HS6ST1 FANCC RET SEC61A1 SLC6A20 SEC24C PAH NELFA CHN1 APOE PEX11B BLK FGF20 ABCG8 CCDC141 HGD FBXL4 TRIP13 PTH1R SOX10 FEZF1 KCNH1 RNU4ATAC TTC21B CDH23 MCC FOXC2 NF1 EIF2AK3 C1QB RAD51 ERCC4 NPHP1 NSD1 TSC2 SPINK5 FANCL NDUFA1 STX3 EVC RET CFTR PPP2R1A PLCD1 APRT XYLT2 SDHB NEK1 FLNB COQ2 TMEM67 BRAF FBLN5 LZTFL1 ACP5 PAX7 MAP2K1 PUF60 COL4A5 TP63 SEMA3E RASGRP1 TKT SIX1 TTR H19 SPOP DNAJC21 LETM1 COL4A1 WDPCP SFTPC ACTG2 FAM149B1 PEX19 ADCY10 BBS12 GLI3 RPL26 HNF4A RERE NEK8 EYA1 KLLN FANCM WT1 FOXP3 MEFV MYCN UBR1 OSGEP IARS1 PDGFRL FAM20A FLT1 INVS TMEM231 SLC3A1 CPLANE1 HIC1 IFNG SURF1 HLA-DRB1 JAG1 TACO1 ZFP57 VANGL1 GBE1 SALL4 FANCG RAD51C KCNJ10 ATN1 MKS1 DNAJB11 ND5 RPS19 CASK DYNC2H1 H19-ICR F8 C1QC ATP6V0A4 ETFA MUC1 MITF ALG8 INSL3 MST1 PRDX1 TOR1A ADGRG2 TRNV PDGFRB RAB23 HPSE2 FAT4 NDUFA6 CIT PRODH WT1 ALDH18A1 PIGQ RAF1 NPHP4 STAT2 SKIV2L SON KCNJ5 HAAO BUB1B TRIP11 ERAP1 ADAMTSL1 SMC1A ZNF148 NPHS2 TMEM231 ARX PRTN3 PIGN TRNF PKHD1 TDGF1 NDUFB11 B4GAT1 VIPAS39 DYRK1A FLCN CYP24A1 ANKS6 TMEM231 ACE CTH PIGQ TSR2 IL12A CDKN1A IRF5 ERBB3 ROR2 RIPK4 FANCB ZEB2 BBIP1 NUP107 LDLRAP1 PRKCD NCAPD3 PEX7 HSD17B4 BUB3 VPS33B CASR WDR35 LIG4 GNAS PAX2 SDCCAG8 GNA11 FAN1 TMEM127 HPSE2 DYNC2H1 TREX1 LCAT MET COA3 WT1 CD96 SDHAF2 WT1 STAT1 TNXB TMEM237 BBIP1 GATM PTPRJ HPRT1 CHD7 LMNA GBA SDR9C7 PQBP1 NDUFS7 TRNL1 CIT SLC5A2 ABCC6 SLC9A3R1 OFD1 IQCB1 SETD5 GDF2 PLG AGXT TP53 LAMC2 MAGI2 BICC1 MMUT TRAF3IP2 GP9 CEP290 FANCD2 PYGL PIK3R2 APPL1 HOXA13 PPM1B PIGV TRNQ TRIM32 RFC2 ALG1 HPS1 SPECC1L PMM2 SERPINA1 WAS SOX9 WT1 TRNS1 APOL1 SEMA3E IL17F HOGA1 SHANK3 SLC35A2 DDX59 TMEM260 NUP160 PYCR2 TAPT1 DSTYK TMEM127 APC SLC7A7 INS CC2D2A FREM2 FAM20C CENPF BUB1 CEP83 DKC1 NDUFAF4 NFIA PGK1 RAD54B AFF4 VHL CLDN10 SRC SLC25A11 RARA PAFAH1B1 MEFV ND1 ITGA8 GLMN MYD88 PTEN FGF10 TP53 SMAD4 WDR19 TMEM216 CEP290 GATA4 WAC AIRE ITGA6 STRA6 NDUFB8 PLCE1 FGFR2 FGF17 FANCC WFS1 IFIH1 COA8 DHCR7 PTCH1 CDC73 LAMB2 CLCNKB ZNF423 RNF139 H19-ICR PROK2 CLCNKB RPL27 CC2D2A SCNN1B AVPR2 COX10 MGME1 GPC3 NDUFS1 WASHC5 MDM2 ACTN4 ABCC6 CRTAP DYNC2LI1 MKS1 PRKCSH SHH MEFV REN DEAF1 NDUFAF8 PIGL XYLT1 PEX12 PTPN11 SLC4A4 ITGA2B DLST FOXF1 GRIP1 PIGW PHEX CRB2 COQ6 GDNF EYA1 LIPT2 PROKR2 APC2 ARHGDIA CTNS TCTN3 SMARCC2 PPOX F10 PKHD1 ODC1 TPRKB WDR19 RAB3GAP1 KCNJ11 RPS26 TRNW STRADA RPL18 CDK5RAP2 PRKAR1A ZNF687 WDR4 EHMT1 RPGRIP1L TRNK SLC30A9 INPP5E UMOD SDHB TMEM67 SF3B4 INSR MEOX1 VAMP7 CEP290 FAT4 PTPN22 ARL6 SLC34A1 BCS1L SRY EPAS1 KCNQ1OT1 PHYH SDHB CISD2 TRIM28 PAX2 HPRT1 GCM2 LIG4 COL3A1 ABCG5 ALDOB NXN GP1BB ENG CENPJ IQCB1 MINPP1 CASP10 PTPN22 LMOD1 TRNT GLIS3 POGZ F8 CA2 FOXH1 TRNL1 PIGP NOTCH2 SDCCAG8 ALX4 PLD1 GSN ENPP1 RNU4ATAC SMARCB1 SF3B4 STXBP1 BCOR VHL GREB1L KCNJ11 MLXIPL SLC37A4 RAB18 AGXT MAPKBP1 RYR1 NPHP3 GNB1 DPF2 TP63 CEP135 HNF1B HPRT1 PEX13 GPC3 RPGRIP1L WDR19 JAM3 PRPS1 CEL TCTN3 SIX5 NPHP3 TP53RK IL17RA UFD1 CHEK2 FREM2 AAGAB MKKS TGM1 TSC1 EIF2AK3 APC AKT1 YY1AP1 ARID1A CACNA1S ITPR3 NDUFA11 RAD21 G6PC RORA MAFB SDHC PTCH1 ALG8 HNF4A TBX1 PREPL TMEM67 INPP5E CCBE1 ARL6 FIP1L1 DNA2 PBX1 NPHP1 SOX9 NPHP3 PIK3C2A SCO1 SPECC1L TTC37 TMEM216 APC PIK3CD BRAF SDCCAG8 DHDDS KIF14 FANCE FCGR2A TAF13 RAD21 LMNB2 GPC4 CEP164 ARL6 SERPINH1 CPT1A MARS1 ALMS1 INVS FANCI PEX26 FLRT3 SMARCAL1 NPHP1 SMARCE1 CHST14 WRN SRCAP LRIG2 GP1BA TRNS2 FGFR3 DNASE1 SDHB NIPBL RPGRIP1L SLC22A12 TMEM107 TMEM138 ZAP70 ND3 GNAS ALOX12B ND1 CILK1 NOD2 ZEB2 B9D1 NODAL RRM2B USP9X CLDN16 MYOD1 CSPP1 MAFB FIBP PEX3 WNT4 COX6B1 ETFDH OCRL UBAC2 COX1 HNF4A RAI1 TMCO1 BUB1B MAGED2 CRB2 PEX1 NPHP4 MMACHC RERE ALMS1 AQP2 HDAC8 TRAF3IP1 TBC1D8B PUF60 CASR ARID1B OCLN HELLPAR THBD SNAI2 CSPP1 CCBE1 MCM5 PIK3CA BBS5 IRAK1 CPLANE1 ARX POU6F2 POLR3A FGFR2 SEC23B RET TFE3 MKKS HYMAI SHH SARS2 CD151 SDHD ABCC8 CSPP1 KNSTRN TMEM216 SDCCAG8 BRAF SLC7A9 RPL11 KIF14 KMT2D SLC3A1 IGF2 NUP85 CASR PLA2G2A MLH3 GPC4 HLA-DPA1 CHD7 RPGRIP1 PEX16 PTPN22 CLPB PIGN ND3 DCLRE1C PEX1 CFH TRNN SUFU NPHS1 FOXF1 KLRC4 CCND1 COG7 IFT80 TSC1 BSND USP9X TRNK SMC1A MEN1 ADCY10 ESCO2 ZFPM2 AP2S1 JAK1 PRCC HMBS ADA2 SLC4A1 RSPO2 C4A GANAB WT1 CLCNKB PPP1R15B FGF8 CTNS WASHC5 CTU2 BSCL2 STAT4 SETD2 XDH AMER1 IFT172 TMEM216 KIAA0753 ZNF423 ARVCF AKT3 ATRX BAP1 ALDOB PGAP2 C8ORF37 RECQL4 MSH2 MKS1 EHMT1 KLHL7 FH RECQL4 MYH9 CFH NDUFS2 CD2AP FGFR2 CEP120 CDKN2A OFD1 AGGF1 FLNB ANOS1 PHGDH HRAS MRPS22 FGFR1 DMXL2 MOCOS TALDO1 IL17RC TRIM28 TCTN2 NSMF KDM6A TRIM8 CEP63 BAX WDR62 MAP2K2 MKKS CPT2 MCFD2 CAV1 BRF1 SNRPB IL10 COX3 OFD1 PAX4 TRIP13 MCTP2 CLCNKA PIK3C2A COX8A SLC34A3 EP300 DGKE SCNN1B PIK3CA KCNE5 PLVAP PDE6D CEP152 ITGB3 SRP54 SOX11 MAP3K7 COL4A4 ERCC6 IL17RD SLITRK6 FGA USP8 REN CC2D2A WT1 WDR35 CHRM3 POLE SDHC GREB1L NPHP3 WIPF1 GNA11 SF3B4 F2 HNF4A FAS DYNC2I1 LRP4 PDE6D OSGEP BBS1 HNRNPU GTF2IRD1 NEUROD2 CFI GPC4 LAGE3 LAMB2 LPIN1 SOX9 APOA1 MAX PDX1 MYLK EP300 TP53RK ADAT3 SMC3 STAG1 STAT4 SLC29A3 FOXE1 ITGB4 FGFR2 CLCN5 GATA3 ESCO2 MYH11 SLC34A1 ATP1A1 KDM6A RPGRIP1L MAD2L2 SPRY4 RPGRIP1L RFWD3 FANCE KRAS CCND1 TLR4 ERCC8 CD81 PEX19 PORCN PREPL DICER1 FANCA SCN1B ANTXR1 BRCA2 COL4A3 TBX1 BBS4 CHRNA3 C4A TREX1 KIAA0753 CAMKMT DCHS1 ANLN KANSL1 MMP1 CHD7 ELN TSC2 SETBP1 WT1 PEX10 MMUT FLNA SLC17A5 NEK8 LMX1B PNKP CFI ELP1 ALG9 TMEM237 TBL2 STK11 SLC7A7 CDKN2B WT1 RET NUP133 PEX5 PCK1 NIPAL4 RPS28 CASP10 AKT1 PRDM16 ASPM IFT27 ITGA3 NBN GCK CDKN1C TRNE SLC25A22 DCC COL7A1 WNT5A SHANK3 CFHR5 LIMK1 BBS10 FAM20A SASS6 SRY SLC34A1 PIGO FANCI LEMD3 CLEC7A SALL1 NOTCH2 NSD2 ZIC3 DYNC2LI1 BMP4 YAP1 NLRP3 NPHP3 CLDN19 OGG1 PIGA HLA-DPB1 ATP6V1B1 KCTD1 DMRT3 TRAF3IP1 PIEZO2 CTNNB1 VHL GANAB KLLN ITGA8 OCRL GPR35 TMEM67 LRP2 STAT5B NLRP3 ROBO2 HPRT1 MSH3 HYLS1 NEUROD1 BMPER MED25 FLCN SMS CTLA4 STS MDM2 TCF4 LIPN THOC6 PET100 PDX1 CACNA1D WDR73 EPG5 ERCC4 TREX1 BCOR KCNJ1 TRNH KIF1B IL6 PTPN22 DNMT3A CDC73 RFWD3 KANK2 RPL15 FGFR1 WDR19 BICC1 HNF1A EFEMP2 TTC8 ADA2 RPS15A HESX1 KMT2A STRA6 NR0B1 TMEM70 RBM10 PEX1 GATA3 WNT3 PYGM ARID2 TBX15 NR5A1 VHL BLM RPS27 FASLG CFHR3 COX14 PPP2R3C KIF7 AQP2 NPHP1 CYTB DDX6 COQ2 HBB ZIC3 POU3F4 MSH6 SCARB2 FLNA PPP3CA SLX4 LARGE1 HABP2 CLCN5 WDR73 PHF21A ITGB3 MDH2 NIPBL ITGA2 BBS2 PALB2 CFB KRT17 WDR11 MTRR PEX2 PGM3 IL7R STXBP1 ARL6IP6 FLI1 NF1 SON DSTYK CYP4F22 CHD7 HLA-B NARS2 BRCA2 APOE PAX6 RBM8A TIMMDC1 BCS1L GRIA3 TTC37 DICER1 SC5D OFD1 TMEM231 PALB2 NRAS SDHD SIX5 APOB TFAP2A HNF1B FREM1 PEX6 AGT SOX18 REST ANKLE2 SC5D TBX22 PRMT7 ZIC2 KCNJ10 TCTN3 GPC3 DVL1 B9D2 KCNQ1 NDUFAF3 HMGA2 CFHR1 SLC4A1 PDSS2 PIK3R2 BBS10 FOXP3 KYNU HNF1B FN1 PCSK9 FGFR2 SOX10 FANCB DMP1 KIF14 ENPP1 OSTM1 AKT1 KEAP1 PHC1 INS UMPS OCRL RPL26 DISP1 CDKN1C LEMD3 YWHAE CYP11B2 LRP4 NSUN2 TRRAP COLEC10 ATP7B CHST14 IL23R PTPN12 CHRM3 DHODH DHCR7 ZMIZ1 CHD4 RBM10 DPH1 LYZ KCNJ10 CWC27 OPLAH MASP1 MYCN KRAS PHYH CDC42 TMEM216 DNASE1L3 TASP1 CYP27A1 DACT1 IFT122 NDUFB3 HOXD13 RPL5 ROR2 COL4A1 USP8 RTTN MED25 PEX10 CCND2 MVK IFT27 SULT2B1 RREB1 CEP57 B9D2 CFI RAD51C COQ8B DLL4 ZNF592 PKDCC TBX1 CEP164 PIGT GEMIN4 DYNC2I2 PIK3CA KIAA0586 PTEN AMMECR1 COX20 DPH1 PEX3 FLNA GCDH RAI1 RMND1 PIK3CA MCPH1 HRAS AFF4 PTPN11 IGF2 KAT6B HNF1B IFT172 ND1 NDUFAF6 SCN2A RPS7 NDUFS3 PIGL SPP1 PLCD1 NSDHL NDUFAF2 WDPCP KAT6B TMEM67 CPT2 GLI3 FGFR1 BRIP1 CDKN1B NUP133 PRKCD POMT1 PIK3CA AHI1 PORCN FLNA CD46 FAH RAI1 TMEM67 BCOR NEU1 CYB561 CEP55 NADSYN1 NAA10 ATRX GDF6 MAX SLC12A3 CPT1A ADA C1QA UBR1 PIGN GDF6 IKZF1 UBE2T GALNT3 TSC2 CAD KYNU HMGA2 TTC21B DHX16 LTBP4 COL4A3 INF2 SKI STAT3 NRAS KCNA1 DCC RPS24 FKTN FLNA NDUFS2 TFAP2A RPL35 RPS17 SDHA COMT CDC73 SBDS SCNN1G GLA LRP5 BBS1 PIGV APRT LAMB3 PIEZO2 KCNQ1OT1 SLC36A2 ACTB NUP93 TBC1D20 SNAP29 CCDC28B ABCC8 PAX2 MBTPS2 FLII FN1 SALL1 CDKL5 SLC26A4 CC2D2A EBP NDUFAF5 XRCC4 FANCA NUP205 YAP1 PMM2 CLDN19 CEP290 ALPL ACP5 FLNA CPT2 STAT3 TRIM37 RPL31 WNT4 IFT140 CCN2 DLC1 SGPL1 NDUFAF3 SDHB EP300 HSPG2 TBCK IRF2BP2 CCNQ BUB1 MYO1E SHPK C3 PC NF1 CEP41 POMT2 DHCR24 ARID1B RMRP NUP133 PEX6 WAS ACSL4 MICOS13 KCNJ11 IGF2 H19-ICR B3GLCT CCR1 TPRKB FH HIRA LRIG2 TTC21B GSN PGK1 FOXI1 TLR2 MOCS2 CDKN1B TELO2 SSR4 CTLA4 DACT1 HLA-DRB1 FIBP SH2B1 RBM8A ALOXE3 CDC42 HNF1A TCTN2 VHL TBX3 FAT4 NABP1 FBN1 NUMA1 LMNB2 PTPRO ERCC8 LAGE3 FANCB FCGR2B SALL4 GBA DZIP1L MDM2 LAMA3 CDON NOTCH2 KAT6A AVPR2 STRADA BBS12 CLCN5 NRIP1 DYNC2I1 ARL3 NPHP1 WWOX PCK2 SI LRP5 WDR35 DYNC2I2 CTNNB1 SCNN1A SNRPB DHX37 SLX4 FGF8 ABCA12 PKD1 TRIP13 CDC73 BBS7 NPHP4 ELN NOTCH3 KMT2D DIS3L2 SMARCAL1 PKD2 TRNL1 WNT3 JMJD1C IARS1 TRNT1 VPS33A ARMC5 CREBBP CCR6 DIS3L2 LMX1B COX2 BRCA2 SLC25A20 GTF2I KNL1 AURKA ALG9 ACTG1 KYNU SOX4 GPC3 ATP6 WDR19 TRPC6 POR VDR LMNA ERCC4 THOC6 MBTPS2 GATA1 SLC1A1 COQ7 VPS33A GDF3 FH CACNA1D BBS9 PEX2 SETBP1 WT1 SIX3 FKRP GLA PEX13 RPL35A MNX1 ANTXR1 DSE ND6 HLA-B FLNA B3GLCT CPOX LEMD3 FREM1 DLL1 BBS4 NDUFAF3 SLC2A2 NDUFS4 SAA1 FGFR3 ABCC6 RBBP8 TRNS1 NCAPG2 COL14A1 YY1 RAG2 RPL11 TMEM107 DUSP6 PNPLA6 PLAGL1 MFSD2A CREBBP PDSS2 EVC2 DYNC2LI1 RARB MBTPS2 WFS1 ND4 TMEM126B NDUFAF1 MYOCD NAA10 TSC1 FAS DCHS1 SLC6A17 G6PC3 FLCN EXTL3 DYNC2I2 PAX1 PUS3 CTNS CDK6 SLC3A1 RAG1 VAC14 BUB1B ATRX IGF2 FANCD2 TBL1XR1 PEX12 ADAMTS13 DCDC2 ATP7A LMNA CYBC1 NPHP1 SEMA3A SMARCD1 MOCS1 CD109 TMEM67 LZTFL1 CA2 LMX1B GAS1 DYNC2H1 FRAS1 ERCC6 PIGY NEU1 GP1BA FANCL BTNL2 PGAP3 SMOC1 PLEC REST RPS29 ND2 TGIF1 HSPA9 PIGA ERCC8 ACVRL1 AGTR1 TCN2 MAFB NUBPL DDX59 GP1BB WNT4 WNT4 MAP3K7 ADA PIGY KLF11 NUP107 SALL4 C3 PACS1 GLI2 PKD1 LDHA CCDC141 FUZ MAP3K1 PEX14 C1QBP SLC12A3 LHX1 RPS26 GLI3 AR ZBTB16 SPART B2M AXIN2 CEP290 DYRK1A IL12A-AS1 UQCC2 MME MKKS CDKN1B STIL TP53 WDR4 BNC2 ACTG2 LMX1B ITGB4 SCARB2 ZAP70 AMMECR1 TMEM138 GNB1 NDUFV1 SCO2 HMOX1 IFT140 GRHPR CD96 CLIP2 PROKR2 PIGT GLI1 FGFR3 FANCF UMOD POR PRKCSH BAZ1B C8ORF37 WDR19 FLCN ETFB STOX1 AIP DICER1 GCM2 TMEM231 LDLR XRCC2 DNASE1L3 FGF23 SPRY2 GLIS2 HNF1A CDKN2C COLEC11 SIX1 MEN1 ATRX POU6F2 IFT172 ITGA2B SOX17 KMT2A CCDC22 TBC1D24 CEP290 INSR PKD2 INF2 DIS3L2 CORIN TNXB NDUFS8 TBC1D24 NLRP3 FOXRED1 CEP290 IFT80 EXT2 EXT2 NDUFB10 SLC2A9 COG1 XPNPEP3 CDK4 HBB CFH GABRD BRCA1 KCNAB2 USF3 GCK NDNF H19 EMP2 HDAC4 SDHD ND5 F5 SDHD IL2RG MEFV SERPINF2 RAB3GAP2 FIG4 ELP1 ASXL1 FGFR3 TXNL4A ARX NUP107 CASR KISS1R METTL5 FUT8 KITLG NDUFV2 TBX1 CLCN5 EYA1 ENPP1 IFT43 GPKOW COL4A4 FAS CCNQ NPHS1 COG6 ADAMTS3 PIGL PUF60 TRAPPC14 AGPAT2 NOD2 RAI1 HOGA1 CC2D2A IFT43 COL4A3 SIK1 TMEM237 SLC12A1 COPB2 SLC37A4 TRIM32 SEC63 TMEM126B INTS1 BMPER DZIP1L TRNW PEX5 CCND1 COPA FRAS1 NSD1 MLH1 NPM1 WDR73 FLCN FOXP1 ND6 GRHPR MYO5B TACR3 PEX7 AVIL AMMECR1 TBX18 PML ND2 CREBBP MYMK APC NADK2 TTC8 RPS10 CEP120 SMO PLG INTU CD46 ERCC6 ARNT2 SLC26A1 NDUFB9 SLC6A19 KIF1B CEP55 VHL CPT2 IQSEC2 ANOS1 HSD11B2 COA8 B9D1 LMAN1 ZEB2 UMOD GNAO1 ABCC8 FBXW11
Protein Mutations 4
C282T C677T K55R Y93H
HP:0001626: Abnormality of the cardiovascular system
Genes 4365
NR2E3 ND4 MMUT EDNRB NDUFS6 TMEM94 LPIN2 COG4 VEGFC PGM3 GATA1 PDE11A KIAA1549 SLMAP LBR CD247 RHBDF2 AGK ABCD3 SEMA5A GP1BB HS6ST1 FANCC SEC61A1 SEC24C PROM1 CALM1 TRNL1 ANK2 NELFA HPS3 STING1 GDF1 MMP14 APOE PEX11B POLR1A OFD1 ABCA12 FGF20 ABCG8 CCDC141 NSD2 CYTB HGD KRAS NKX2-5 JUP KCNH2 TRIP13 FEZF1 PERP IKBKG BTD LDB3 GDF1 RAD51 ERCC4 FGB NDP SLC25A4 ASXL1 CTLA4 ABCC9 LBR FLT4 KCNJ2 SEC31A ATP6 USH2A FLNC GATA4 MYH6 PLEC NSD1 FHL1 GLB1 TSC2 LMNA CAVIN1 TNFRSF4 FLT4 GUSB AIP EVC C12ORF57 RET RNU4ATAC PPP2R1A TPM3 XYLT2 COQ2 FBLN5 HBA1 LZTFL1 ACP5 NUP188 IL7 MAP2K1 ROBO4 MYLK PUF60 FKRP TPM2 TTR TSFM TMEM67 FGFR2 SPOP IGH KDSR DNAJC21 LETM1 ACTN2 POMGNT1 PTDSS1 MYF6 CD70 SOS1 ATP6V1A GJB6 NPPA ACADM GATB TERF2IP GLI3 G6PD HNF4A MGMT COA6 RERE KLLN IFNG ARNT2 FANCM WT1 PDE11A FOXP3 USP45 MYCN UBR1 MYOT IARS1 ENG PLEKHM1 GJA1 GLI2 DNAJB13 PRKAG2 FLT1 INVS IDUA CCDC174 NOTCH3 HPGD HIBCH CAV1 IFNG HLA-DRB1 JAG1 ARL13B GFM2 HOXA13 COL4A1 GBE1 SALL4 CFHR1 TBXAS1 DDX58 TGIF1 MKS1 LACC1 DNAJB11 ND5 RPS19 H19-ICR BLOC1S3 CDON PRPF6 PLCB4 GPD1 SLC18A2 FGFR1 EVC2 NEDD4L BAP1 RPGR THPO MST1 LAMA2 HPS5 ADAMTSL2 PEX14 RAB23 NDUFA6 MYH7 ESR1 EDA VCP KCNE3 ZIC2 KMT2E HFE SDHD C2 ITGA2B TET2 CAV3 ALDH3A2 PEPD FGF8 RAF1 SHH XYLT2 PSMB4 SON HMBS TLL1 DTNBP1 ABCD4 FHL2 MMEL1 NODAL JAK2 HEPHL1 TAZ HAAO BUB1B ERAP1 ADAMTSL1 CSTA SMC1A ZNF148 LZTR1 MIB1 CLRN1 FMO3 TMEM231 PRTN3 PIGN CHRND TRNF LRP6 TDGF1 NDUFB11 COL1A1 SCARF2 PTPN22 UBE3B DPF2 ANKS6 DNM2 XK KRAS HEXB IDH2 MYH6 IRF5 HLA-DQB1 ERBB3 DUX4 TBX19 SIX3 IDH3B MTHFR FANCB TERT EPB42 TRNL1 ZEB2 ODAD1 NECTIN1 COX1 ARCN1 COL1A2 LDLRAP1 TP63 SMAD3 F13A1 CAV1 GJA1 VPS33B CASR WDR35 LIG4 LARP7 CCDC40 CUL7 DDRGK1 IL2RG PLOD1 HAND2 PRRX1 SACS SCN5A WT1 CD96 WT1 TGFB3 PRPF3 ACTA2 BBIP1 SLC4A1 HAMP LMNA GBA CYP11B1 SGCG IDUA TRNL1 CTSK KLF1 ABCC6 SIM1 SETD5 SAMD9L SF3B1 ESS2 NCF4 DRC1 FERMT1 TPI1 NFU1 NDUFS2 COX7B SCAPER DNAH5 SAMHD1 MAN2B1 KCNJ18 FXN AGXT ZMPSTE24 ALDH18A1 ACTL6A GFI1B D2HGDH EOGT GP9 CEP290 HCCS SMARCB1 PIGV GMPPB TRIM32 DNAAF4 HPS1 KIF15 ODAD4 SPECC1L TDGF1 PMM2 SGSH WAS SOX9 DCAF8 HAVCR2 ND5 CDKN2A ARX GNPTAB SEMA3E IL17F SCN10A LRRC8A SLC35A2 CCNO LMNA MYL2 SOX2 NKX2-5 NOS3 SETD1A NEXN BMPR2 CDK8 POMT1 ERGIC1 TMEM127 NCKAP1L CC2D2A JAK2 HNF1A BAP1 DKC1 CYBB COL1A1 PAFAH1B1 VHL SCN5A TTC7A FOXH1 NDUFAF5 TNNI3 SLC25A11 PAFAH1B1 ND1 ITGA8 GLMN MYD88 EIF4G1 ARF1 KCNJ5 SLC20A2 PRNP RRAS XPA GATA4 AKAP9 STRA6 SDHA FGF17 FANCC TRNW ARMC5 COA8 PSAP DHCR7 PTCH1 CALM3 MEN1 CLCNKB MAB21L1 PROK2 CKAP2L CC2D2A F7 BPTF COX10 MGME1 TKFC ADAM17 CRYAB PLAGL1 ABL1 NDUFS1 WASHC5 SMARCE1 INTU ERCC5 ACTN4 STAT3 DYNC2LI1 TRNV HGD HYMAI WNK4 LIFR SHH AEBP1 MEFV DNAI2 AKT1 ND4L NFIX NFKB2 DCDC2 PIGL TGFBR2 ATP6V1E1 XYLT1 CRELD1 PTPN11 DLST MYH7 FOXF1 SDHAF1 TGFBR3 GDF2 LARS2 GDNF RPS6KA3 PROKR2 APC2 TNFRSF1B CTNS SMARCC2 FGFR1 PQBP1 COX15 PPOX F10 PNP GLUL PKHD1 NKX2-5 HYLS1 CAV1 BLM ASCC1 MYH6 MEIS2 KCNJ11 TFRC IDH1 PEX6 RPS26 COL6A3 CIB1 SOS2 RPL18 DVL1 RHO TGFBR1 RPGRIP1L TRNK CEP120 EPB41 CYP7B1 FECH SF3B4 UBE2A CRYAB MNS1 FGFR2 MEOX1 VAMP7 LMNB1 GP1BA ARL6 JAK2 NDUFAF1 SRY CFC1 DNMT3A EPAS1 KCNQ1OT1 WNT10A TANGO2 GATA6 TNFSF4 DYRK1B GATA6 BSCL2 RUNX1 ATP5F1A AKR1D1 DHCR24 OFD1 ABCC9 USB1 TSHR HTRA1 THSD1 SMC1A SVBP GYG1 ALB F8 COL2A1 TFAP2B COL3A1 ABCG5 ALDOB DLL1 IFNGR1 SDHB TNFRSF11A CEP57 CASP10 PTPN22 RAB3GAP2 ABCA4 TERT POGZ F8 CA2 PIGP PEX11B NOTCH2 COL5A1 NRXN1 CD81 NODAL MYBPC3 ANKRD11 SDCCAG8 F13B PPARG NDUFA2 CSGALNACT1 SF3B4 STXBP1 BCOR HADHA SNCA DNMT3A ARL2BP DSP KIF11 WRN SLC37A4 GNAQ SCN9A AGXT EDNRA AVPR2 CCND1 RYR1 ATP6V0A2 XYLT2 MYL3 NBEAL2 ODAD4 CACNA1C FGF8 RIT1 RLIM GATA1 TFAP2B TMEM43 F9 MEF2A DISP1 CNGA3 GPC3 TCTN3 PRF1 ETV6 SLC29A3 CLCF1 NPHP3 TCF20 IL17RA CANT1 LMNA FREM2 RAG1 FRA16E LMNA LMNA CPLANE1 DLL1 EIF2AK3 AKT1 HSPG2 FAN1 G6PC NFIX MUC5B EWSR1 ZMYND10 ACTG2 SDHC DHODH SGCG PTCH1 CD79A ARL6 COL5A2 FIP1L1 PBX1 LRP5 SMARCA2 SOX9 RPGR SCO1 SPECC1L GINS1 GLRX5 TGFB2 PIK3CD PHOX2B BRAF ALAS2 TCTN1 SLURP1 EBP ECHS1 NF1 ARHGAP31 GATA4 IDH3B CDH2 CSNK2A1 GLI2 PROS1 ALMS1 PEX26 SIX3 FGFR2 ATRX TGFB2 FGF8 PSAP ACAD8 BCHE NPHP1 AP1S1 CHST14 POLG WDFY3 LRIG2 DCX NDP DNASE1 NIPBL POU1F1 CEP41 OPA1 ARMC9 TULP1 SDHA IFIH1 TWIST1 RNF135 GATAD1 ND3 MYRF ND1 BRCA2 APP IFIH1 ND5 FXN FOXE3 APP BRCA1 FIBP NXN PEX3 ATPAF2 CIZ1 EYA4 ALDOA ORAI1 MTAP CD19 COX1 CEP104 LMNA RAI1 GUSB LRP5 GNE NGLY1 TMCO1 SAMD9 SDHA F13A1 POMP GMPPB GUCA1B PKP2 NPHP4 HDAC8 TRAPPC11 ALDH18A1 PUF60 PTCH2 SMAD4 RANBP2 KIAA1549 MPL SCN5A OCLN THBD DOCK3 SUMF1 SNAI2 MYL2 PIK3CA CYTB FAH STAG2 POLR3A KRT83 SEC23B GATA6 FOXC1 MYSM1 SERPINC1 SARS2 GJA1 CDKN2A ABCC8 CPT2 CBS TET2 PRPH2 ZMPSTE24 SDCCAG8 NR3C2 TCF3 RPL11 NKX2-1 NDUFA4 ZMPSTE24 TCAP PACS1 ALG12 KMT2D RPL15 TGFB1 IGF2 CKAP2L CASR CCDC47 GGCX NOTCH1 RRAS2 PDE6H ADCY5 MYOZ2 HLA-DPA1 CHD7 RPGRIP1 RSPH3 GNAQ SELENON RYR1 CLPB PIGN ND3 SMC1A TGFBR1 IDH1 PADI4 CFH HSD3B2 TRNN SUFU MRPL3 FOXF1 KLRC4 COG7 B3GALT6 SMAD6 WWOX USP9X ATP2C1 PDCD10 PIGU KRT5 KCNJ2 NDUFAF6 CITED2 NLRP3 ESCO2 RPL5 ZFPM2 ELN JAK1 ZFPM2 NR2F2 FGF8 TKT WASHC5 HLA-B CTU2 SETD2 PNPLA2 ATP6V1B2 ARHGEF18 FBN1 JAG1 MEN1 BMPR1A KIAA0753 ATP6V0A2 ZNF423 STK4 GCH1 AKT3 PMS1 C8ORF37 CPN1 RHAG POGZ DSP NDUFS2 F12 JAK2 ATRX TTN BRAT1 FUCA1 CFH ADAR KCNE2 JAK2 NLRP3 CCDC103 CEP120 HBA1 AGK SMARCE1 ERCC5 CLCC1 GPD1L GUCY1A1 PRCD AGGF1 DOLK DCHS1 TRDN CALM1 FSCN2 FAM161A TNNI3K MRPS22 KRIT1 FGFR1 DMXL2 DNAH11 IL17RC FLNA FCGR2C NSMF NAA10 GNAS KDSR KIZ MKKS LDB3 DNAI1 AGTR1 ERCC2 BRF1 IGH LRRK2 GLI2 FGG SNRPB IL10 FZD2 QRSL1 SLC4A1 STEAP3 SLC26A2 OFD1 GJB3 PEX13 SCN9A MCTP2 ANK2 FGF8 PIK3R1 EP300 SCNN1B CASP8 KCNE5 EFTUD2 RP1L1 SCN1B PLVAP FOXH1 IMPG2 SDHAF1 DNAAF1 CDH23 TDGF1 IL2RA MAP3K7 COL4A4 FGA PDE3A USP8 REN AMER1 CC2D2A TERT GJB3 ZIC2 ARID1A WDR35 PRKAR1A PRDM16 RIT1 BGN WIPF1 GNA11 SF3B4 F2 NF2 SLC29A3 SLC19A3 FAS RNASEH2A DYNC2I1 TGIF1 FLNA DCLRE1C SMAD4 BBS1 PALB2 GTF2IRD1 CFI TET2 KDR FADD APOA1 COX7B AKT2 TAB2 PDX1 SLC39A4 MYLK SMC3 FKRP SLC29A3 PLIN1 FLNA FOXE1 SPARC GBA GATA3 COL6A2 PCARE KLF13 BANF1 ESCO2 MYH11 SCN4A FBN2 DCAF17 RTEL1 RPGRIP1L LIPC SBDS KRT9 HMCN1 CACNA1D FANCE KRAS TLR4 ETHE1 GPD1L PEX19 XPR1 TRNC FANCA ODAD2 NEK9 FBN1 IFNG SDHD ANTXR1 ELANE CXCR4 COL4A3 CENPE BBS4 DMD C4A IFT88 UROS KANSL1 MMP1 FMR1 KRT16 F13A1 PCCB TSC2 NR3C1 PRPF8 SETBP1 USB1 LAMP2 TET2 BPGM MVK NKX2-1 SLC17A5 CTCF PNKP DDX3X RRM2B GFI1 RNF113A CLIC2 MAF DDC ALG9 KAT8 TMEM237 NEBL STK11 IL10 SLC7A7 MED12 CDKN2B LONP1 ERBB3 RET JAK3 PEX10 OTX2 SYNE2 AICDA GLB1 GTF2H5 ZFPM2 PLOD1 RPS28 PRDM16 COL3A1 IKBKG ITGA3 ITPA CIITA GBA DOCK6 ACTC1 JAK2 KIT CDC45 CARD11 GALE CFAP298 PEX5 DCC COL7A1 TRPM4 WNT5A SHANK3 MTHFR TRAF7 MAP2K2 LIMK1 NRAS HLA-DRB1 EXT2 LMNA FBN1 SOS2 HBB PSAT1 FANCI MITF TNNI3 SALL1 PAX8 TARS1 NSD2 DNAAF3 DAXX DYNC2LI1 NLRP3 NPHP3 NPC1 HJV TNFRSF1A HLA-DPB1 SYNE2 DSG4 RINT1 LZTR1 SLC25A11 COL1A2 TRAF3IP1 TRPM4 MPIG6B VHL POMK GANAB TCAP NLRC4 EIF2AK4 RPSA GPR35 POMT2 CLRN1 LRP2 STAT5B FBXW11 NLRP3 CHRNA7 KRAS FCGR2A KIAA1109 CNGB3 SELENOI MYOC ATP8B1 CYBA ERCC6 SF3B1 PLN GNA14 FOXH1 MDM2 CAT TCF4 THOC6 PET100 ACTG1 ITGB3 NOTCH2NLC IL12RB1 CYP11B2 ATP6V0A2 CACNA1D PITX2 PKLR TCOF1 GAS1 ERCC4 PLN STAG2 TRNH KIF1B PTPN22 SPTA1 POMGNT1 HGSNAT F10 SLC2A1 ERCC3 IDUA HLA-B COL5A2 GM2A NDUFV2 TWIST1 MIPEP EFEMP2 NCF1 ADA2 RPS15A HESX1 KMT2A F2 IL2RB ERCC4 DISP1 CSRP3 ATP6AP2 BCR RBM10 PEX1 FGFR2 WNT3 COL1A1 AP1B1 GATA1 NR5A1 ACTA1 HCRT PDGFRB FASLG SMAD4 DMPK CYSLTR2 ROM1 CCDC103 CACNA2D1 HBA2 PEX5 ATAD3A FGF8 CCDC39 NEU1 COQ2 POU3F4 LMNA RPS15A NKX2-5 HBA2 PSAP HSD11B2 GJB4 ITGB3 MDH2 CA4 RP9 BBS2 PITX2 KCNE3 PALB2 RAF1 KCNN4 LMBR1 CFB WDR11 PEX2 WAC ARL6IP6 GNAS PLEC FLNA TCIRG1 TP63 NF1 SON PIK3CA NKX2-5 LMNA CHD7 CUL3 NMNAT1 KCND3 SLC4A1 BCS1L CAPN5 CD55 TTC37 LONP1 SHOC2 GJA8 HTRA1 GPC6 ABCA3 STK36 LMNA OFD1 PALB2 TECRL HLA-A SURF1 FGFR2 FMR1 APOB TFAP2A AP3D1 ACTA2 DHPS PEX6 AGT ZMYND10 SOX18 TGM5 TPM2 REST ZIC2 SNRNP200 SC5D PTEN TBX22 CTCF PRRX1 RAC2 CTLA4 PLP1 MEGF8 FGFR2 ZIC2 TAF2 EFL1 TTC8 DDB2 B9D2 PEX16 EFEMP2 PTEN PCNT NEUROG3 CFHR1 PDSS2 PIK3R2 FGFR2 SPIB TGFB3 FANCB USH2A TNXB MYH7 PRPH2 SCNN1G UMPS ACVR2B TRAPPC4 XPNPEP2 PTCH1 LEMD3 CRLF1 TNFRSF13B MYH8 COL1A2 MYPN MCIDAS F2 GNAT2 YWHAE CYP11B2 IVNS1ABP NSUN2 CHRM3 COL1A2 SLC25A4 STIM1 DHCR7 KRAS TMC8 RBM10 DPH1 LYZ KDM6B FAM13A MFAP5 CWC27 TBX3 MRAS MAN2B1 KRAS KRAS SH2B1 ANO5 TUB CDH2 CYP27A1 CBS NODAL IFT122 ACAT1 RBM20 NDUFB3 ROR2 COL4A1 MUC5B USP8 LIPN RTTN CRPPA SMAD4 HBG1 MED25 CCND2 SELENON COG4 RREB1 JUP PROP1 CEP57 DLL4 SH3PXD2B DES CEP41 TBX1 CEP164 RNASEH1 ADCY5 ERMARD NRAS GJA1 GPIHBP1 ZNF408 COLGALT1 PTEN AMMECR1 SDHC ATM DPH1 SLC25A4 AKT1 CYP21A2 FLNA NR2F2 TBX5 GCDH ATP2C1 STAG2 MED13 GATA6 GALNS ACTC1 IDH2 UNG MRPS16 CTLA4 KAT6B SMAD4 CLCN7 POLA1 SCN2A HBG2 RPS7 TNNI3 MMP21 GLB1 SCN4B NDUFS3 PIGL AKAP9 WDPCP ADA2 COL4A1 KAT6B VANGL2 SCN3B ACTL6B EED GLI3 PLCG2 ADAMTSL4 FGFR1 BRIP1 ZNF513 KCNE1 ERCC3 PTPN11 TRPV3 PRKCD FBN1 RIN2 CD79B ALOX5AP TECRL ABHD5 CD46 RAI1 MYT1L GP6 COL3A1 MAP3K7 ARID2 HDAC8 SPATA5 KAT6A BCOR DGUOK CACNA1C DVL3 BCL10 ABCB4 TP63 HLCS TRPS1 NEU1 ACADL BMPR1A RSPO2 NADSYN1 POLG2 GDF6 MAX SOX2 TRIP11 ARID1B SLFN14 POLG2 GAA UBE3A FKTN SNTA1 FGG CSPP1 TERT GDF6 ARFGEF2 DES UBE2T GALNT3 CSRP3 KYNU HCCS KCNMB1 HMGA2 LMNA CPT2 TMPO TTC7A SLC25A24 SKI STAT3 NRAS TTC12 RPS24 INPP5E BPTF FLNA TFAP2A RPL35 SLC2A10 RPS17 SDHA CYP17A1 INPP5E NLRP3 CCDC40 ASAH1 POLR1A CTNND2 MYH3 MVK NOS3 BRAF ATRX KCNJ5 APRT PRPF31 PIEZO2 MED13L KCNQ1OT1 NDUFS8 DTNA CCM2 PHKA2 NKX2-5 GJA5 POU2AF1 SNAP29 PAFAH1B1 FOXH1 SLC40A1 SULT2B1 HADH MBTPS2 FLII FN1 NRL PDE6G RBP3 PHKG2 ARPC1B CDKL5 SMARCA4 SP110 HCN4 TCTN2 ITPR1 FANCA PMM2 RASA1 ROR2 COX3 CEP290 ALPL POLG STAT3 DNMT3B PEX26 MGP ABCC9 OTX2 DLL1 KCNE1 SHH COQ2 ABCA1 EP300 DDRGK1 CLIC2 ITGA7 SCN9A IRF2BP2 CCNQ TNNC1 RIN2 ADGRE2 ALKBH8 NF1 CPOX OTC DHCR24 ARID1B MAK RMRP LIPT1 NEK10 SGCA FGFR2 MICOS13 SOX5 NEXN SYNE1 BIN1 TGM1 PSTPIP1 COL7A1 FOXE3 EDN3 IGF2 H19-ICR B3GLCT TUBB MYCN TNFSF12 PIK3R1 RASA1 F5 SARDH GSN SH2B3 DSP KIAA0319L SLC52A2 CDKN1B LIPA TELO2 SSR4 GJC2 DACT1 TRPM4 GYG1 FIBP RBM8A ZIC2 CDC42 LRRC56 LMNA TNNT2 DNAI2 NONO FAT4 PPCS ERCC8 USP18 VWF SALL4 PQBP1 GBA GJB2 GATA4 PDE6B GATA4 MYH11 HFE EED CDON PROC STRADA TTR SLC26A2 BMP2 WWOX BVES C8ORF37 CALM3 TPM2 CITED2 PTEN DYNC2I2 COX3 SNRPB MTO1 DHX37 SLX4 LOX ACTA1 IRF8 XRCC4 TRIP13 CDC73 ODAD3 DNAAF2 MANBA CFTR SCNN1A PPP2R5D WARS2 CCDC39 PKD2 TNNT2 PRKCH SMAD9 RYR1 ELOVL4 JMJD1C TRNT1 VPS33A ODAD1 ZMIZ1 CREBBP DIS3L2 AGA SETX SGCD BAP1 COX2 SLC25A20 KIAA0586 GTF2I POT1 EFTUD2 ALG9 KIF3B TRDN LMNA ACTG1 ALX4 COX1 ACAD8 ATP6 TRPC6 LMNA LAMB2 ERCC4 GTPBP3 PDE6A HPS6 GATA1 OTUD6B COQ7 LRP5 BEST1 MPI CALR CCM2 HBB VPS33A GDF3 CYP11B2 OTC SEC23B RPE65 ANKRD26 TET2 SCNN1A RLBP1 EPG5 DSP POLR1C SIX3 KRT5 GLA MTHFR HBB RPL35A ND1 FGG SDHD MARS2 CYP26C1 ANTXR1 APOB HLA-B TRMT10C ATP6V1E1 TRNE UVSSA CPOX CDHR1 SLC20A2 RBCK1 TWNK AKAP9 APOC2 NDUFAF3 SAA1 HBA2 KCNQ2 TAF1A NBAS DBH SMAD6 TEK EXT2 ABCC6 FZD4 NKX2-6 RAG1 LIPT1 F8 BAP1 NCAPG2 YY1 LPL TMEM107 DUSP6 SLC25A3 AHI1 PRKACA PNPLA6 RHOH FGFR1 PLAGL1 SNCA CREBBP SCN5A MYH11 EVC2 LDB3 GBA PRDM5 GATA6 WFS1 ND4 NDP SLC25A26 GBA SLC19A2 ND1 NEXN RARB NDUFAF1 ATP7A F5 DCHS1 GJA1 APOE ELN GNAS MAF PLCG2 HLA-DQB1 HBB TCIRG1 RAF1 EXTL3 ATP11A ND6 PCCA TPI1 SOX10 KIT NPPA APP GNAI3 NKX2-5 VAC14 PDGFB BIN1 LIPA TGFBR2 SPTA1 NDUFS7 FOXJ1 NEK1 RPL10 SCNN1B ECE1 KIT ATP7A FSHR CYBC1 SEMA3A SMARCD1 PRKAR1A JAK3 CD109 SPTB PCGF2 LIG4 FERMT1 MYH7 LZTFL1 SGCD IRF5 PTCH1 CA2 SYNE1 NTRK1 CHRNA1 FGA RSPRY1 KCNJ8 FRAS1 ERCC6 RNASEH2B P2RY11 NEU1 GP1BA MYH7 BTNL2 NDUFA9 KIF23 ND2 HSPA9 PIGA MEIS2 CACNA1S DNAH11 GCLC ACVRL1 POMT1 AGTR1 DMD POLG MSL3 PLCB3 GP1BB CAV1 KCNH2 TPP2 FARSB UCP2 IRF6 SALL4 PACS1 GLI2 AHI1 SHOC2 FUZ MAP3K1 MYH6 SRP54 IGHM CRKL C1QBP IL10RA COX15 SLC12A3 DLL3 RPS26 FERMT3 LOX RBPJ RB1 ZBTB16 LCAT CYP11B1 GIGYF2 SFTPC HSD3B7 IL12A-AS1 RECQL4 SIK3 MKKS SFTPA2 ABCA1 BNC2 IFT172 LMX1B SDHB SCARB2 RNF6 PARS2 XYLT1 CALR GP1BA GLI1 CRELD1 FGFR3 FANCF RAF1 SFTPC MPL PRKCSH ODC1 ALG10B IARS2 GPC6 GJA1 BAZ1B BRAF METTL5 JAK2 ATP6 DNAAF3 WDR19 CALM2 EBP STOX1 ICOS CALM2 DCTN1 SIX3 FKRP TMEM231 DNASE1L3 TTN SPRY2 TMEM70 FASTKD2 KIAA0586 ATF6 TRNF PLEKHM1 POU6F2 MYPN NBEAL2 SRD5A3 LRRC6 MIR17HG FGA KCNE1 B2M COG4 NHP2 CCDC22 TBC1D24 IGF2 KCNA5 CORIN TNXB MYT1L RAG2 MYL4 NDUFS8 DCAF17 PRKG1 NLRP3 FGA FOXRED1 MPLKIP TLL1 HESX1 NSMCE3 CCDC22 HADHB RPL35A EXT2 SCN1B NDUFB10 VPS35 NDUFS4 C8ORF37 ACTA1 HBB GABRD TGFBR2 APC BRCA1 AIP SNX14 SGO1 NDNF SCN5A NOTCH1 SDHD NCF2 FOXRED1 KIF5A HRAS TRNS2 ADNP PEX16 SDHD IL2RG MEFV TULP1 ATM ODAD3 RYR1 NDUFB11 CYBC1 SMPD1 CDON FIG4 DMD TREX1 ELP1 C2CD3 TWNK PNP BACH2 CRX TXNL4A CCDC115 KISS1R FUT8 ROM1 SUGCT PPA2 FAS CCNQ ERCC2 COG6 CBL PIGL GPC4 COG8 DSP NOD2 ODAD2 RAI1 CBL TGFBR2 CC2D2A MALT1 COL4A3 KDM1A SIK1 TAB2 TMEM237 SEMA4A PPARG SLC12A1 SLC37A4 VPS13A MYH7 TERT FAS TNFRSF11A COL1A2 ATOH7 DSG2 DZIP1L BCORL1 COPA AKT1 FRAS1 NSD1 LTBP4 YARS2 NPM1 DLEC1 ND6 TACR3 TMEM237 PML ND2 POLG IL12B MYMK NDE1 DISP1 ND5 TTC8 RPS10 KDM3B NODAL KIT PLG INTU CD46 HSPG2 AIPL1 RGR RSPH9 TERC CD19 CEP55 NOS3 RDH5 KCNH1 VHL GPR101 PMS2 HSD11B2 MCCC2 ANAPC1 B9D1 PGM1 TTN SLC26A3 IFT140 RNU4ATAC LMAN1 CRYAB GNS GNAO1 ABCC8 PLEC SDHB SMARCA4 RPS19 GPR101 RSPH4A AEBP1 RNASEH2C OBSL1 PEX1 LAMA4 PRPH2 FANCB ND2 POMT1 LIPA SPTB TERC CTNNB1 NR3C2 PDGFRA NTRK1 KCTD1 ANGPTL6 ASS1 ENPP1 SH3PXD2B IL2RG KRT14 RET PTGIS MED13L TRIP11 PAH PRKAR1A CNBP KCNQ1 COL2A1 CHN1 ELAC2 COG2 TMEM43 FLT4 RYR2 DBH FBXL4 ATP5F1D UNC13D SOX10 CACNA1S KCNH1 RNU4ATAC FOXH1 CDH23 PIEZO1 SOX4 JAK2 COL1A1 GTF2E2 FOXC2 NF1 PRF1 GPI GFI1B POLG AKAP10 DVL3 IGSF3 PSTPIP1 CRYAB RHO DGCR8 SMCHD1 MLH3 SIN3A SCN5A ERCC2 GATA4 SPINK5 FANCL NDUFA1 NOTCH1 NAGLU DLD STX3 MCCC1 ND2 GNPTG SDHB NEK1 POLH TMEM67 BRAF DSG2 MAN2B1 ARSA CALR HJV BRAF MYLK COL4A5 HADHB PAX3 SEMA3E RASGRP1 KIF7 LYST TKT H19 XIAP APP LRRC56 CITED2 COL4A1 FKBP14 WDPCP MCM4 RAG2 FAM149B1 PEX19 PHGDH PRKAG2 TNFRSF13C RPL26 SBDS POMT2 COL6A1 KIF7 MEFV PTEN TGFBR2 SLC2A10 OSGEP ELOVL4 SVBP VPS13B FTO RNASEH1 ALB COL1A1 GAS1 GATA4 NT5E PLN KRT14 HIC1 ANKRD11 SURF1 SIX6 RRM2B TACO1 TRNK ZFP57 VANGL1 LMNA GNPTAB FANCG TBX6 RAD51C ATN1 ELANE CASK PIGO SHH MYPN F8 KIF20A ARHGAP31 IDH2 MERTK KCNQ1 RAF1 SCNN1A PRKAR1A SIX3 CYP27A1 MUC1 DST MITF SMARCB1 RPL27 NKAP TOR1A RAI1 TRNV RBP4 RB1 DNAAF4 HPSE2 TCIRG1 FAT4 CYP3A5 CALCRL CSF2RB ALDH18A1 BMPR1A SAMD9 LPL CLDN1 NFKB2 MYD88 SELENON POLR1D STAT2 SFTPA1 TPM1 SKIV2L COL18A1 LAT TPM1 SKI KCNJ5 SEC23A LORICRIN XPC MTFMT SGCD GAS1 ATP6 STAC3 TRIP4 KCNJ2 ARX FLNA TBX1 ABCA3 GATA1 PKHD1 ZAP70 HTRA2 PAX3 VIPAS39 DYRK1A BCOR RAB23 FLCN CYP24A1 FGF23 CHRNG ACE NSD1 PIGQ TSR2 IL12A SGCB ALDH18A1 CDKN1A CCN2 ARL3 DKC1 FBN2 CASQ2 BAP1 ALX1 DSE SCN11A ROR2 HAVCR2 NDUFV2 DGUOK RIPK4 COQ2 TAB2 RPL10 PRKCD F2 CLCN2 C1S PEX7 SLC22A5 SH2B3 BUB3 GAS8 NTNG1 GNAS CYP17A1 RPGRIP1 LDLRAP1 TMEM127 ARL3 KRT1 DYNC2H1 TREX1 HOXA1 NR3C1 FGB LCAT KCNE5 PLOD3 COA3 SCNN1G TGFB3 SDHAF2 SDHD SLC39A13 STAT1 RDH12 PHOX2B TMEM237 FBN1 NRXN1 ABL1 CHD7 GP9 CTSA ERCC6 MMP2 CDAN1 CERKL PQBP1 NDUFS7 CYP11A1 LIMS2 XPA PDGFRA OFD1 VHL CDK13 FLNC LRBA TTC8 GDF2 TNNC1 PRG4 LAMC2 MMUT TRAF3IP2 KCNQ1 KATNIP FANCD2 GBA PYGL APP CR2 PIK3R2 IRF5 VPS45 PDGFRB CYP11A1 TRNQ RRM2B DSP CTSB RFC2 BCL11B NCF1 ALG1 CD3D PRCD STEAP3 MEOX1 SLC7A14 WT1 TANGO2 TLL1 TRNS1 SPTB MLYCD CASQ2 CTSA CST3 DDX59 NAGS TMEM260 ETHE1 NLRP3 PEX19 RAD21 TAPT1 MYH6 SLC7A7 INS MED12 CENPF HLA-DRB1 MAP2K1 NDUFAF4 NFIA PPA2 AFF4 POLE SMG9 MGME1 BMP2 RARA EOGT DYSF PTH1R PTH1R CACNA2D1 CBL ACTA2 GJB4 NAXD NDUFS4 NPM1 PTEN SMAD4 MTTP SOX3 TMEM216 CASK CEP290 FGA SP7 NOTCH1 PKD1L1 ACTA2 AIRE PHKG2 NDUFB8 WFS1 IFIH1 KRAS PEX1 PEX12 FBP1 CYLD VCL ZNF423 BRCC3 SLC35A1 ARSB MMP1 COLQ AGBL5 RPL27 WDR1 RHAG APOE SCNN1B AVPR2 OTULIN PIK3CA LMNA MID1 GPC3 PALLD GAS1 SOS1 AQP5 GALC MYH9 ABCC6 CRTAP RERE MKS1 PRKCSH CACNA1C KBTBD13 MKS1 ACVRL1 MPL FAT4 DOLK RIPK1 TGM5 FOXE3 DEAF1 NDUFAF8 HADHA CALM1 MRPS14 PSAP PEX12 ITGA2B PRDM6 ABCA4 LRP5 TNFRSF13B POMT2 PDE4D GRIP1 PIGW TGIF1 CLCN7 LAMP2 SMC3 MECP2 TCTN3 ATAD3A JAG1 PET100 MAPT RANGRF IL12A KRT18 TDGF1 GUCY1A1 CERKL TRNW STRADA PROS1 CDSN TGIF1 PRKAR1A ZNF687 NOTCH3 EHMT1 NOS1AP TGDS POR ANO10 TCIRG1 SDHB SPAG1 ATP6AP1 LFNG INSR CEP290 LRP1 IDUA WDR26 KRAS PHYH SDHB WNT5A SCNN1B CISD2 TRIM28 CFAP53 KRT5 POLR3A RSPH1 AKR1D1 FGFR1 TFR2 LIG4 IL7R TPM3 RMRP GNB5 DNAAF5 NXN GP1BB DNAH1 ENG KDM6A IQCB1 MINPP1 TBX20 HES7 LMOD1 TRNT GLIS3 FOXH1 TRNL1 DNAH9 DNAJC13 ALX4 ANTXR2 PRPF4 PLD1 GSN SMCHD1 RP2 ENPP1 SMARCB1 VHL TOPORS MLXIPL NKX2-5 HLA-DRB1 ADK MYH7 DNAH5 CPS1 TF CACNB2 EYA4 ND1 CPLX1 ITGB3 RYR1 CHST3 CYBB DPF2 BBS2 TP63 ERCC8 KRAS CDK10 SUFU MSX2 PEX13 GAS1 RPGRIP1L SFTPB DSP FBN1 ASCL1 GATA5 FBLN5 ISG15 GJA5 UFD1 TNFSF11 SCNN1B SERPINA6 NKX2-5 FHL1 TSC1 TXNRD2 APC PIK3CA YY1AP1 MMP2 CCDC65 GNB5 GATA6 ARID1A CACNA1S WAS SCNN1G NDUFA11 RAD21 KRT1 RAB27A MSH2 HLA-DRB1 CYP7B1 MAFB CDON PDCD10 ALX3 TBX1 TMEM67 INPP5E MYORG CCBE1 ITK LRP2 NPHP1 SCNN1A NPHP3 SCN4B PIK3C2A TMTC3 REEP6 GATA6 ELN TTC37 BTK RS1 RLIM IL7R ISCU HLA-DRB1 ACTB POMT1 LHX4 PSMB8 SAG CALM2 FANCE FCGR2A ADAMTS10 AKT3 CFHR3 RAD21 GPC4 COL11A1 UROS RAC2 CD19 NAGA CP ARL6 AIP CPT1A INVS NFIX FANCI FBN1 BAG3 DISP1 PRDM16 DNAAF5 FLRT3 NF1 FGD1 AIRE TNNC1 WNK1 PIK3CA SMARCE1 WRN BCR KCNQ1 SRCAP GP1BA TRNS2 SDHB GJA1 PCNT MRAS SGCB CASR DPM1 IDUA TOP3A ZAP70 MEN1 CYTB MYH7 NOD2 GNE ZEB2 ATP5F1E NODAL F13B LETM1 USP9X KRAS MAFB RORC PSMB9 PLAU FLT4 WNT4 TBCK ZNF469 FMR1 COX6B1 UBAC2 NKX2-5 LBR NME8 TRAC HEXA CRB2 PEX1 SLC26A2 HABP2 RERE ALMS1 AQP2 SERPING1 FOXP1 EYS RUNX1 TRNK FLT4 ASAH1 SNTA1 ACTC1 ARID1B HELLPAR KRAS DGCR2 MIF PROKR2 ABCA1 CCBE1 TSPYL1 MOG BBS5 TRPM4 STX11 IRAK1 CPLANE1 AAAS EVC PEX6 DDR2 ECE1 TMC6 FGFR2 PPP2CA RET MKKS B3GAT3 RAG2 C1R HYMAI PIBF1 TERT HMGCL ANTXR1 NDUFA11 IRX5 BTK HSD17B10 CAV3 GNAI2 RPS6KA3 CYP11B2 FTL CITED2 NDUFA12 SDHD TTN CSPP1 KCNJ2 KNSTRN TMEM216 CDON BRAF FLAD1 FZD4 ICOS TMEM126A KCNN4 FHL1 NNT PPP1CB DHDDS BMPR2 NDUFB11 ATAD3A STN1 DSC2 MYH7 NOTCH3 ERCC4 GPC4 IL36RN CNGA1 PEX16 PTPN22 NDUFA2 GATA4 GREM1 HPGD COX7B PSEN2 COL1A1 THOC2 DCLRE1C CHCHD2 GLB1 BTNL2 FLNC CCND1 TNNT2 DNAJC21 CAV1 PCCA TSC1 TRNK MEN1 DMD TNFRSF13C EPHB2 ADAMTS2 HMBS ADA2 SLC4A1 CFTR CAVIN1 C4A GANAB GBA NKX2-5 WT1 FKBP14 CLCNKB PPP1R15B SOX18 CCR6 IFNGR1 BSCL2 TCIRG1 DDX11 STAT4 PDE8B CHST3 AMER1 TMEM216 TJP2 NDUFS1 PDGFB ARVCF PROC NFKB1 MTFMT PGAP2 SLC26A2 DNM2 RECQL4 MKS1 KCNJ11 EHMT1 POLG XRCC2 KLHL7 FH RECQL4 NCF2 RPS6KA3 GGCX NDUFS8 CD28 MYH9 NT5E SLC25A20 SDHD NDUFS2 KRIT1 COL3A1 WHCR ND4L CD2AP MAP3K7 JPH2 GATA2 TRNQ LIAS RET ESCO2 SFTPB EXT1 SPEG CYP11B1 TET2 BEST1 MBTPS2 COL2A1 NF1 OFD1 ANOS1 PHGDH HRAS TKFC TALDO1 TRIM28 TCTN2 GATA4 CD79B KDM6A TRIM8 FBN1 SLC25A13 FDFT1 POLD1 MAP2K2 NFE2L2 PIK3R2 MCFD2 CAV1 DOLK COX3 SMPD1 NLRC4 ECHS1 PIK3C2A COX8A GBA DNAJC19 PIK3CD NDUFB11 ENG ATP6 ALOXE3 ND6 DPM3 PDE6D ITGB3 SRP54 SCYL1 SOX11 EBP ERCC6 F11 IL17RD SLC30A10 EPHB4 COX2 CHRM3 MVK SDHC GREB1L DNAL1 CRB1 SH2D1A PEX3 CHRNA7 GLRX5 MAP2K2 GNE ACAD9 CD27 FN1 BSCL2 LTBP2 HNRNPU NEUROD2 GATA5 SOX9 ELN KLHL7 GDF1 MAX TDP2 LTBP3 CASQ2 ADAT3 TBX20 STAG1 STAT4 ADA2 FBN1 SMAD3 FGFR2 TCOF1 GMPPB NDUFS2 FBLN5 KDM6A RYR2 MAD2L2 SPRY4 TACO1 CLN3 MPLKIP RPGRIP1L SCNN1A RPGR RFWD3 HGSNAT CCND1 PROS1 ERCC8 UPF3B CD81 CARD9 LRRC6 PORCN MED12 DNAI1 IDH3A PKP2 SCN1B CTBP1 TNFRSF1A BRCA2 TBX1 CHRNA3 MPL STX16 ERCC1 RAG1 TREX1 SMPD1 ALG8 TBXA2R CHD7 ELN HADHA A2ML1 ENG STAMBP SDHC NEK8 PDE3A CFI ELP1 SALL4 APOA5 ESPN TBL2 EMG1 WT1 SRCAP JUP DMPK PEX5 DLD PPARG DYNC2I1 CASP10 IDS LTBP2 KDM5B IRF8 GBA TRNS1 DISP1 TRNE IVD ELN SNX10 RNASEH2A LAMA4 TRIO NDUFA10 SLC25A22 ARX LDB3 GNPTAB ERCC6 CACNA1C ALOXE3 KCNH2 SRY PIGO P2RY12 FGFR3 ABCC6 LEMD3 CLEC7A WDR37 DNAAF2 NOTCH2 CAV3 FOXRED1 ZIC3 EXT1 TNFSF15 PIGA MAP3K20 FBN1 KCTD1 DMRT3 CFAP300 PIEZO2 SLC25A24 CTNNB1 SCN10A TNNT2 GPC1 RYR2 SOX2 PSEN1 DNAAF6 FOXC2 INPPL1 ITGA8 EMD NID1 SERPIND1 IFT172 GJB6 PTF1A HBA1 MYC COL11A2 PDE6A PRKCD HYLS1 TNNI3 LYST BTD KCNQ1 EZH2 MED25 SDHC CTLA4 ADD1 RYR1 MNX1 AGL NDUFAF4 RLBP1 CD244 NAGA TUBB GATA4 PTPN11 AIP SLC25A4 FKRP FHL1 EPG5 NRAS PRKAR1A HIBCH TREX1 BCOR KCNJ1 FBP1 NEB SLC35A1 DNMT3A PDGFB MRAP PTPN14 RFWD3 CDH23 RPL15 FGFR1 RNF113A NODAL BICC1 GATA1 TTC8 GBA CST3 STRA6 RAC1 WRAP53 NR0B1 PIGM TMEM70 UQCRFS1 NDUFV1 CTSH PYGM ARID2 SEC23A IRF8 VHL BLM ACTA1 CD40LG ICOS CAV3 RPS27 CFHR3 PTEN ABCC9 COX14 THPO TDGF1 GGCX MED13L KIF7 NPHP1 NDUFA13 SELENOI PIEZO1 CYTB RP1 DDX6 BRAF WDPCP HBB ZIC3 MRPL44 NOP10 WNT10A FLNA ERCC2 CALR FHL1 ACD NEB HABP2 DPP6 PHF21A MYBPC3 NIPBL ITGA2 HYOU1 EGFR ACADS DES TPM3 RPL10 MTRR PGM3 KCNQ1 MTTP IL7R STAG2 STXBP1 PSMD12 FLI1 CITED2 TMEM43 SMAD4 PRKACG IFT81 HLA-B SPINK5 KCNQ1 RNASEH2C SP110 RBM8A TIMMDC1 ATIC BAG3 SLC39A13 IGH TOP3A DPP9 TMEM231 DCLRE1C SDHD GJA5 TGFBR1 TNFRSF1B WARS2 TNNI3 GTPBP3 ITGA2B TXNL4A AP3B1 TCTN3 GPC3 DVL1 FLNB KCNQ1 TTN NDUFAF3 AGA BBS10 FOXP3 KYNU COG5 FN1 PCSK9 TRMU SOX10 DNAH1 KCNJ18 OSTM1 HADHA AKT1 FKTN BBS2 ACADVL RPL26 DISP1 RNF213 CDKN1C SH2B3 GLI2 GLI2 COL4A2 EDN1 CYP1B1 TSC1 JUP TRRAP GATAD1 CHST14 IL23R BOLA3 MGP PLIN1 CFAP300 STIM1 SCN5A UMPS CTC1 ZMIZ1 SFTPC XPC CHD4 ND6 FRG1 ANK1 FKTN STK11 SPEG AK2 MASP1 GNAQ MYCN MYH11 LRP5 SOX3 PHYH HFE CDC42 TASP1 FOXA2 DGCR6 TEK HOXD13 B3GALT6 RPL5 SLC39A4 KAT6B NEK2 ACTA1 PRKAG2 SMN1 NLRP12 GDNF CHKB ABCG8 PEX10 MVK COG1 TP63 IFT27 SPEF2 COL2A1 ABCA4 ND4 CFI LRAT ATP5MD RAD51C MLX SEC23B FUCA1 PKDCC FGB HPS4 PIGT JAK2 ALG1 AHCY FOXC1 SUZ12 PIK3CA VCL DOCK8 DNAH9 LOXL1 COX20 HCN4 KLHL41 RAI1 RMND1 PIK3CA HRAS AFF4 ERCC2 DHX38 PTPN11 KCNE2 IFT172 ND1 RIPPLY2 NDUFAF6 MYBPC3 GGCX FAM111A SPP1 NSDHL ZFPM2 NDUFAF2 TBX20 VCL SPECC1L CPT2 GYS1 CLCN7 PTCH1 LEP LBR IGLL1 NOTCH3 PPCS SCO2 PTCH1 OTUD6B PIK3CA NKX2-6 PORCN FLNA TK2 FLNC SLCO2A1 FAH XIAP HES7 GNAS MEGF8 CD3E ABCB6 KCNJ8 EPCAM ATP6V1A TDGF1 VWF PEX6 MAT2A NFIX PSMD12 SCN3B ZNF462 RNF168 TBX5 FYB1 CYB561 ATM NAA10 COL5A1 ATRX MPL SERPING1 ATP8 ACAD9 PTEN SLC12A3 SLC25A3 PKP1 CPT1A TGIF1 ADA PSMD12 UBR1 PIGN BCOR NEK9 IKZF1 AGT TSC2 LEPR WIPI2 RASA2 CARS1 EPB42 LTBP4 BTK STIM1 INF2 APOA1 RPS20 RUNX1 KCNA1 TNNT2 WT1 NDUFS2 COMT CDC73 SBDS SCNN1G ARL2BP POLH GLA CTSB CLCN7 BBS1 PIGV LAMB3 MTHFR TPM2 ANK1 STXBP2 CSRP3 ACTB PTCH1 CPOX C12ORF57 IL1RN TP53 CCDC28B SNX10 TGFB1 GP1BB ALPK3 SALL1 VPS13B NDUFAF5 STN1 HAMP XRCC4 PIGT NLRP1 ABCC9 SOX18 ELMO2 ACP5 TWIST1 FLNA TRIM37 RPL31 FLNB SRD5A3 EPB41 SLC4A1 DMD WNT4 SERPINC1 CCN2 HNRNPA2B1 RET SMAD3 RP1L1 SDHB TREX1 CNGA1 HSPG2 AARS2 ATP7A MSH6 F5 TALDO1 RPE65 C2CD3 GLI3 FGFR1 SIN3A EYS SRP54 TINF2 BUB1 ARL6 KCNE1 AHI1 SMAD4 SHPK ATP7B ERCC3 TXNRD2 SCN5A SELENON GATA6 WAS ACSL4 MAPK1 F7 KCNJ11 DOCK6 YY1AP1 PDE6C PIK3CA MEFV DLL1 FLI1 CCR1 TRDN COQ2 COX4I2 FSCN2 HIRA JAM2 KRT2 TBX1 GATC NHLRC2 ACADVL COQ4 PPARG CTLA4 GJA5 MKS1 LEMD3 HLA-DRB1 PYCR1 ADAMTS10 IGF1R CHST3 KRT10 SNRNP200 CACNB2 TBX3 PSAP RAF1 COL5A1 NABP1 FBN1 PRKAR1A NUMA1 FECH MYO18B DLL4 COL7A1 DDB2 TBX1 BMP2 FCGR2B SIX3 CALM3 SDHC LIG4 COA5 LAMA3 GMPPB MTOR NOTCH2 KAT6A BBS12 GNAQ NUP155 TP53 SCN1B SERPING1 SYT1 NPHP1 BMPR1A EGFR ABCC8 LYST LRP5 RNF125 GATA6 SCNN1A FGF8 PKD1 BBS7 BIRC3 ELN KMT2D DIS3L2 SMARCAL1 NR2F2 EPHB4 KLF1 IL6 TRNL1 KIF1B GNA11 KCNE2 ARMC5 FADD CCR6 KLHL3 HRAS HYLS1 LMX1B ADA RAG1 ACTN2 BRCA2 RPS17 SIX3 SDHA ABCB11 TNFRSF11B VWF APOE PCARE KYNU SOX4 SETD5 WDR19 TWNK POR TNFSF11 MGAT2 HK1 DNAAF6 IGHM DLX5 THOC6 TFAP2B OTX2 PEX2 SERPINF2 ZNF469 B4GALT7 CACNA1D BBS9 FGG PEX2 SETBP1 HOXA11 LMNA CTNNA3 WT1 KRT14 HYDIN CD40 CD28 SHH MNX1 SEMA4A MECP2 KCNK3 DSE ND6 DDX6 KIT FLNA B3GLCT KRAS ITCH SPAG1 TRDN GJB2 LMNB1 TSPYL1 IDUA DLL1 NDUFS4 ZNF513 FGFR3 KCNQ1 SLC19A2 PPP1CB MYOT RBBP8 TRNS1 CDON PRKACA RAG2 RPL11 KCND3 MAP2K1 MC4R STAR SCYL1 GYPC TBX4 SPATA7 NODAL GABRA3 RARB EDA2R HBB COX3 FGB MBTPS2 TMEM126B SUFU MYOCD NAA10 TSC1 PCCB FAS G6PC3 MS4A1 PROC LMNA KRT5 ZDHHC9 TRAIP RRAS2 MYH7 MED12 NEU1 CYP11B1 ZNF365 RAG1 NDUFA10 IGF2 PROP1 AUTS2 FANCD2 BCL2 TBL1XR1 PEX12 ACTC1 TWNK GATA5 LMNA DCDC2 MRE11 LMNA SEMA3A ABCA1 CNTNAP2 TMEM67 SLC2A1 BCL6 TRMT1 PSEN2 DLL1 LMX1B FOXC1 CNGB1 EMD GAS1 NDUFS3 TRAF7 HCN4 FKTN ANK1 PIGY HESX1 ACTN2 PGAP3 SMOC1 RPS29 TGIF1 PEPD TERT BAG3 ERCC8 FIG4 CDK4 TAF2 NUBPL SAMHD1 RBM20 ACTC1 MAPRE2 MAP3K7 SDHA KPTN KCNH2 ADA PIGY ATP7A IGFBP7 NUP107 C3 PKD1 CCDC141 FBLN5 NFKBIL1 PEX14 DSG2 TNFSF12 RASGRP1 GLI3 SDHA DNAL1 MLH1 MC2R AGPAT2 KCNN3 GMPPA KIT B2M FOS DYRK1A PEX7 KCNJ5 PAM16 EXOC6B ABCC9 SMO TBX1 CDKN1B CHRNG CYP7A1 ACTG2 CALM1 AMMECR1 DPM3 TMEM138 TNNI3 ADNP CYLD PAX6 KCNN3 NDUFV1 SCO2 CFAP221 RGR PKLR TSC2 MSX1 KDSR CD96 SCN2B SCN5A MFAP5 CLIP2 BEST1 PIGT PIGS SCN1B PDSS1 TGDS POR POMT2 CEP120 HNRNPA1 PPOX ATR GAS2L2 FASLG ALOX12B TPM3 IL6 AIP LDLR XRCC2 MTM1 CDKN2C PSEN1 MYH6 STAT3 IFT172 ANKRD1 SFTPA2 ITGA2B ATXN7 PDGFB B9D1 CDON ASXL1 CDKN2B COL3A1 TTPA PDHA1 MAGEL2 INSR PARN MAP1B NRAS NPC2 TP63 PRKG1 MYH7 PKD2 BLNK DIS3L2 DES CSF2RA SMOC1 MYPN ZIC2 SH2B3 HACD1 TBC1D24 AHCY CEP290 PCNA SUFU GPX4 PRPF3 NONO IFT80 EXT2 MYMK PARN FGFR3 SCN5A XPNPEP3 COQ9 TP53 NAGA NAGA TAZ CACNA1H SLC22A4 KCNAB2 USF3 GCK H19 HDAC4 ND5 PTCH1 SCN5A CR2 MYPN TNPO3 F5 F5 MPL HADH SERPINF2 DSP SHH HSD3B7 NDUFB11 AK2 ND4 ASXL1 GLI2 MYOC AHR TNFRSF11A SRSF2 SDHB NUP107 GATA6 TET2 SCN2B CCDC8 CTC1 KITLG NDUFV2 TBX1 IMPDH1 IGBP1 ENPP1 CFAP410 SOX6 PACS2 GPX4 BMPR1A SKI ASXL2 TERC ADAMTS3 TOPORS COG7 PUF60 CAP2 AGPAT2 MRPL12 TTN DVL3 IFT43 DSG1 SOX10 SNIP1 SCNN1G TBX2 GNB3 NGLY1 TF CYBA PIEZO1 SEC63 TMEM126B INTS1 CDIN1 FRG1 GBE1 TRNW RTEL1 PEX5 TET3 PCNA KRT8 MYPN ITCH PNPLA2 FOXP1 GNB5 MYO5B DNAAF1 PEX7 FGFRL1 AMMECR1 SUMF1 MTMR14 TPM1 FGFR2 CREBBP PDE6G NDUFAF2 CEP19 APC NDP HLA-DRB1 TERT PTPRC MC1R SCN10A GDAP1 SMO NAA10 ERCC6 SFTPB CACNA1S EPHB4 KAT6B NDUFB9 RFT1 CFAP298 ACTA2 KIF1B CPT2 IQSEC2 NSMCE2 COA8 DNAJC19 MYLK2 MESP2 ERF WDPCP ZEB2 SIM1 TANC2 LIPC TAZ FBXW11 TPK1
HP:0002090: Pneumonia
Genes 272
TBX20 DCLRE1C ZIC2 HLA-DQA1 GAS8 GRHL3 DNAI2 SFTPC CARD11 DNAJC21 CD81 NODAL PGM3 IL2RG GNPTAB ORC6 SFTPA2 CD247 NTRK1 TNFRSF13C SIX3 ACTA1 MUC5B LAMA3 IL2RG DNMT3B MED25 CHD7 TNFRSF13C EGFR ZBTB24 CACNA1C CYBB RNF125 NFKB1 CITED2 SMARCD2 SLC25A24 BLNK LRBA IRF8 DISP1 GAS1 KIAA0586 FOXH1 SFTPB CFTR KMT2D MAN2B1 LAMC2 P4HTM MASP2 CR2 CREBBP COL11A2 AFF4 ADA ICOS RAG1 FCGR2A CD3D SIX3 PRKCD DLL1 RANBP2 SIX3 TDGF1 PMM2 IL21R GATA4 WAS LTBP3 CFB KCNJ6 FOXH1 SGCG RNU4ATAC CDON TAF1 SLC35C1 LEP CDON EPM2A KDM6A UBB GAS1 FBLN5 ACP5 MCIDAS TBC1D24 CD79B MAN2B1 MTHFD1 TIMM8A SLC35A1 DNAI1 RAG2 ZIC2 BTK IL7R CD3E AFF4 PIK3CD NODAL NBN FOXH1 EFEMP2 NCF1 NFIX OFD1 RNF168 RAG2 SHH RAC1 DISP1 CD19 PANK2 TNFRSF13C FGF8 FANCF GLI2 IGLL1 ALMS1 SBDS EP300 CASP8 BLM ICOS DISP1 TGIF1 CRLF1 ADA UNC119 PIGN FOXP3 FGF8 TDGF1 PTCH1 NCF2 CR2 TDGF1 IL2RG GLI2 FGF8 NIPBL RAG2 WDR1 SHH BTK ZAP70 GLI2 TK2 FGFR1 CREBBP IL2RG GAS1 STAT3 DDR2 TGIF1 DCLRE1C GBA CFAP410 ELANE LAMB3 CDON IL7R MS4A1 NFKB2 STAG2 CD19 EXTL3 PTCH1 SIX3 TCIRG1 TBX20 PAFAH1B1 FOXH1 SAMD9 TNFRSF13B TGIF1 RAG1 ALMS1 NKX2-5 ZIC2 SP110 CD55 CYBA ACTC1 NFKB2 PEPD PNP PKHD1 FGF8 CYBC1 ACP5 TNFRSF11A CSPP1 WDR19 SHH DZIP1L TDGF1 DCLRE1C TLL1 JAK3 DLL1 STAG2 SHH NODAL POLA1 NOS1 TGIF1 PTCH1 ZIC2 ASAH1 TBCD CXCR4 RAC2 FGFR1 GAS1 EFL1 FMO3 HLA-DQB1 RYR1 SRP54 RAG1 BTK ABCA3 ZAP70 CARD11 SETBP1 USB1 SELENON RMRP KNSTRN NADK2 TERT CDON NHLRC1 NKX2-1 PTPRC GATA6 ICOS OSTM1 NODAL GFI1 ACADVL DLL1 PTCH1 TGFB1 TNFRSF13B KPTN TNFSF12 GLI2 ADA JAK3 LIG4 COL11A2 ODAD1 PLOD1 MYH6 DLL1 IFNGR1 SRP54 TNFSF12 IGHM RNU4ATAC SFTPC DOCK8 NBN FOXN1 DISP1 SMC1A
SNP 0