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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation S1009A

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 Road to Discovery for Combination Probiotic BB-12 With LGG (Different Doses) in Treating Autism Spectrum Disorder Disorders

This protocol is a blinded randomized controlled study of the effects of BB-12 with LGG at different doses in 70 healthy children with autism spectrum disorders at lower and higher doses over an 56-day period and a 28- day observation period. The study is being conducted in order to assess safety and tolerability of the probiotic (BB-12 with LGG) at 2 different doses of BB-12 with LGG. Identifying effects on behaviors in healthy children with ASD using SRS-2 and ABC, GI symptoms using GI symptom severity index, and relevant biomarkers of inflammation, microbiota, and metabolites. Primary testing and procedures will be conducted at the University of Texas Health Science Center at Houston and Memorial Hermann. Biomarker identification includes Integrative analysis of plasma metabolome and stool microbiota will be conducted with the collaboration of Dr. Ruth Ann Luna and Dr. Jim Versalovic at Alkek Center for Metagenomics and Microbiome Research, Department of Molecular Virology & Microbiology of Baylor College of Medicine.

NCT03514784
Conditions
  1. Autism Spectrum Disorder
  2. Gastrointestinal Symptoms
Interventions
  1. Drug: BB-12 with LGG (Higher Dose)
  2. Drug: Placebo
  3. Drug: BB-12 with LGG (Lower Dose)
MeSH:Disease Autistic Disorder Autism Spectrum Disorder Child Development Disorders, Pervasive
HPO:Autism Autistic behavior

GI symptoms will be measured by the GI Severity Index.. Effects of BB-12+LGG at different doses on gut inflammation (S1009A). --- S1009A ---

Primary Outcomes

Description: Adverse events (Safety) will be measured by case report form (survey) that are related to BB-12 with LGG (health-promoting bacteria) or placebo treatment. The symptom grade will detail the severity of adverse events.

Measure: Effects of BB-12+LGG at different doses on adverse events (safety)

Time: 84 days

Secondary Outcomes

Description: Psychological/Behavioral change in irritability and related maladaptive behaviors associated with ASD will be measured by the Aberrant Behavior Checklist (ABC) pre and post treatment

Measure: Effects of BB-12+LGG at different doses on irritability and maladaptive behaviors with Aberrant Behavior Checklist (ABC)

Time: Days 1, 21, 56 and 84

Description: Psychological/Behavioral change in irritability and related maladaptive behaviors associated with ASD will be measured by the and the Social Responsiveness Scale-2 (SRS-2) pre and post treatment.

Measure: Effects of BB-12+LGG at different doses on irritability and maladaptive behaviors measured with the Social Responsiveness Scale-2

Time: Days 1, 21, 56 and 84

Other Outcomes

Description: GI symptoms will be measured by the GI Severity Index.

Measure: Effects of BB-12+LGG at different doses on GI symptoms as measured by GI Symptom Severity Index

Time: Days 1, 21, 56 and 84

Description: Plasma S100A9 will indicate GI and systemic levels of inflammation. S100A9 is a damage-associated molecular pattern molecule (DAMP) released by granulocytes, which is reportedly elevated 2-fold in plasma of children with ASD.

Measure: Effects of BB-12+LGG at different doses on gut inflammation (S1009A)

Time: Days 1, 56 and 84

Description: Biological change in fecal calprotectin levels. FC is a highly accurate fecal marker of inflammation.

Measure: Effects of BB-12+LGG at different doses on gut inflammation (Fecal Calprotectin)

Time: Days 1, 56 and 84

Description: Plasma zonulin, a marker for intestinal permeability ("leaky gut"), which is often associated with inflammation.

Measure: Effects of BB-12+LGG at different doses on gut inflammation (Plasma Zonulin)

Time: Days 1, 56 and 84

Description: IL-8 can be an indicator of gut inflammation; it released from the intestinal epithelial cells during inflammation.

Measure: Effects of BB-12+LGG at different doses on gut inflammation (IL-8)

Time: Days 1, 56 and 84

Description: Using 16S rDNA analysis, this will determine microbial alpha and beta diversity and distribution of the major taxa before and after probiotic treatment.

Measure: Effects of BB-12+LGG at different doses on fecal microbial community

Time: Days 1, 56 and 84

Description: This will determine levels of metabolic markers which are reported to be abnormal in autism: fecal amino acids, ammonia, short chain fatty acids (SCFA), and phenols.

Measure: Effects of BB-12+LGG at different doses on metabolites

Time: Days 1, 56 and 84

2 Incidence, Clinical Characteristics and Evaluation of Prognostic and Diagnostic Markers of Interstitial Pneumonia With Autoimmune Features (IPAF) - a Multicenter Prospective Study

Interstitial pneumonia with autoimmune features (IPAF) was defined in 2015 by the Working Group of the European Respiratory Society (ERS) and the American Thoracic Society (ATS) as interstitial pneumonia with some clinical and/or serological features suggesting presence of an underlying autoimmune disorder. However, ofiicial criteria for diagnosis of an autoimmune disease are not met. Aims of the study: 1. Determine the incindence of IPAF in comparison with interstitial lung diseases (ILDs) and classic autoimmune diseases (ADs) in polish pulmonological centers. 2. Clinical, serological, functional and radiological and histopathological characteristics of IPAF patients. 3. Analysis of diagnostic strategies towards specific IPAF subgroups. 4. Characterictics of potencial diagnostic, predictive and prognostic features of IPAF. 5. Prospective assessment of IPAF patients in the courseof 5 years in order to determine stability of the diagnosis and potential progression to other diseases, e.g. ADs.

NCT03870828
Conditions
  1. Interstitial Lung Disease
  2. Interstitial Pneumonia
  3. Interstitial Fibrosis
  4. Autoimmune Diseases
Interventions
  1. Diagnostic Test: Bronchoalveolar lavage and taking bronchial mucosa samples
  2. Diagnostic Test: 6minute walk test
  3. Diagnostic Test: Arterial blood gas
  4. Procedure: Blood drawing
MeSH:Pneumonia Lung Diseases Lung Diseases, Interstitial Autoimmune Diseases
HPO:Abnormal lung morphology Abnormal pulmonary Interstitial morphology Autoimmunity Interstitial pneumonitis Pneumonia

Samples will be checked for concentration of S1009A protein, chemokine (C-C motif) ligand 2 and chitotrisidase 1 (CHIT 1). --- S1009A ---

Primary Outcomes

Description: It is still unclear whether there are diagnostic markers specific for IPAF or whether there is a significant difference in concentration of fibrosis biomarkers in IPAF, CTD-ILD and ILD groups. Both blood and BAL biomarkers will be taken under consideration, they include chemokine C-C motif ligand 18 (CXCL18), Surfactant Protein A- (SP-A), Surfactant Protein D (SP-D), Krebs von den Lungen-6 protein (KL-6) and chitotrisidase 1 (CHIT1).

Measure: Identification of IPAF diagnostic markers

Time: 10.2019-10.2020


HPO Nodes


HP:0000729: Autistic behavior
Genes 701
EZR NTRK2 LHX1 CDKL5 SH2B1 DEAF1 EEF1A2 MAGEL2 KCNA1 CLTC NDUFS4 ALG13 GRIA2 MAGEL2 NDUFAF4 POLA1 DHCR7 NSUN2 AGTR2 ZNF711 GTF2IRD1 SLC9A7 NECAP1 PHF21A FRMPD4 CNKSR2 SATB2 CNNM2 ARID1B ARX GABRG2 ST3GAL3 PGAP2 PUF60 ARVCF MBOAT7 NDUFAF3 SETD5 TBX2 STAG1 CEP85L MED13 RORA YY1 PACS1 RREB1 NAA10 DNM1 STXBP1 OCA2 CTCF STEEP1 ATP1A3 CTNNB1 SNX14 ARX AIMP1 ZIC1 PTEN SVBP AARS1 NDN BCOR GJA5 EPB41L1 AP3B2 DCX LRRK2 GJA8 DMD RAB39B PROKR2 KCNQ5 RTL1 SIM1 PODXL MECP2 CLIP2 SCN1A VPS13C ANKRD11 MAOA NF1 CAMTA1 CEP290 NUS1 MYT1L HIRA CC2D1A SPATA5 GP1BB BRSK2 SVBP ACTL6B SQSTM1 ADNP SEC24C FOXG1 MEF2C CDK8 ELN EXT2 HCN1 THOC2 MBOAT7 CLTC MEF2C SATB2 NDUFV2 NDUFAF5 TLK2 WAC CLCN4 GABRA5 GRIN2B AFF2 KMT2C SEC23B SCN9A CUX1 SON TSC1 DLG4 CHD1 GDI1 SLC1A2 PSEN1 HESX1 PTCHD1 PDE4D GABRB2 CREBBP NPAP1 TUBB3 PDE4D FRRS1L KDM5B TRRAP SCN1A NTRK2 SLC25A12 PACS2 CDK19 KMT2E VAMP2 MED13L INTS1 SCN1B RARS1 USP7 GRN TM4SF20 TANC2 NAGA CHMP2B SYNGAP1 SPECC1L MEG3 GABRA2 STS NEXMIF CHD2 NDUFB10 ACTL6B SNORD115-1 DNAJC21 MADD ZMYND11 SRY SLC35A3 SOX3 CNOT3 MAN1B1 KCNB1 NDUFA11 MKRN3-AS1 NDUFS3 TSPAN7 EEF1A2 NAA15 SLC35C1 CDH15 YWHAG SEMA3E KDM5B ALDH18A1 CACNA2D2 COX10 CACNG2 NAGA FTSJ1 MED13 RSPRY1 CDKL5 SRP54 GABRA5 SMG9 SNRPN STXBP1 HCN1 SCN2A DEAF1 MAPK8IP3 PPM1D DPYD SH2B1 ZNF81 ND2 KIF1A PUF60 CLCN4 PDE4D TAF1 EGF KMT2A TAOK1 PWRN1 SIN3A IPW POU3F3 PPP3CA ARNT2 PNKP FOXRED1 DYNC1H1 CHRNA7 MICOS13 KAT6A AP2M1 CHD8 PAK3 CAMK2A SNRPN DALRD3 KCNA2 ADSL AP1S2 SH2B1 KPTN SNRPN KDM6B ZC3H14 ZBTB20 DCPS HNMT DMXL2 NDUFB11 GABRG2 NLGN4X WDFY3 NDUFAF8 MECP2 HERC2 JAM2 MSTO1 GABRA2 TRPM3 MED23 DHCR7 KDM5C SDHB CAMK2B SYNGAP1 CREBBP DYM UBA5 OCA2 AP2M1 AP3B2 NLGN3 DDX6 AKT1 GALNT2 RAD21 NUS1 PIGV ALMS1 MED25 SYT1 TBR1 KANSL1 LINS1 SBDS WASHC4 SLC35A3 RERE RIMS2 CASK SLC6A8 FGF12 CIC DNM1 PTEN TIMMDC1 FGFR1 GABBR2 KAT8 TUSC3 BCORL1 TREM2 PIGW MAGEL2 SYNGAP1 COG5 DEAF1 ALG13 ACSL4 ND1 TET3 STS MID2 SIK1 TBC1D23 KLLN PINK1 IARS1 OTUD6B VCP SLC13A5 NDUFAF3 FOXG1 FBXW11 ALDH5A1 SLC45A1 GATAD2B PSMD12 DNAJC6 STXBP1 SLC35C1 NDUFS4 UGP2 ASXL3 PWAR1 PPP2R5D TCF4 CTCF SCN8A ASH1L CNKSR2 TSC2 PRKN IQSEC2 NOVA2 IFNG HNF1B NIPBL SMAD4 ALG11 SET NDN TCF20 USP9X MKRN3 CUX2 HECW2 DLL1 SETD2 RAI1 TCF20 TECR TBR1 CDH15 OPHN1 OCA2 PCGF2 FLCN B3GALNT2 SRP54 DYRK1A FMR1 GNB5 NONO AUTS2 MEIS2 PRODH NDUFB9 DLK1 TWNK SCN9A SNCA SLC25A1 IL1RAPL1 APC2 ASH1L ZNF423 CNTNAP2 NDN CACNA1A PIGL NTNG1 TBX1 NSD1 NDUFS8 CACNA1C MBD5 JMJD1C C12ORF4 CREBBP RSRC1 TMEM237 SHANK3 NDUFS6 TMEM231 TMEM106B POMT1 TBX1 FBXO31 NRXN1 MECP2 MAN1B1 PGAP3 TNIK TBL2 SIM1 TBX1 CSNK2B WWOX ATRX SYNJ1 HERC1 DEPDC5 METTL5 TMLHE REV3L EHMT1 STXBP1 SYNGAP1 NEXMIF MTOR FOXP1 CLIP1 RFC2 SARS1 NDUFS1 SLC9A6 TRAPPC9 SNORD116-1 POLR2A NLGN3 GRIN1 ARFGEF2 LIMK1 MED12 PIGL MYT1L SYN1 POLA1 PTCHD1 CRBN EP300 ATP6V1A ZFPM2 ARV1 EP300 NDUFA6 EP300 CDKL5 TBC1D24 HCN1 HTRA2 SZT2 SNX14 NDUFS2 PIGO ND3 MCTP2 BPTF SIN3A NEUROD2 SNRPN SYP WFS1 ZMIZ1 ZNF41 PRSS12 PIGP STEEP1 CACNA1B C9ORF72 TMEM216 TAF1 DOCK7 PRDM16 EDC3 UBE3A RPS23 ACTL6A NDUFS7 MED12 SCN1A NDUFA1 CLCN4 PSMD12 NUBPL PCDH19 SLC6A8 EXT2 FBXW11 FOXP2 USP27X IQSEC2 UBTF PPP2CA PARK7 GRIN1 NDUFB3 TSC2 SYNJ1 CHAMP1 GRIN2D LSS USF3 CHD2 GRIK2 SNRPN RERE NDP OTX2 TCF4 NDST1 MAPT PLXND1 TANC2 SIM1 GABRA1 SKI NLGN1 WAC PIK3CA DPYD POGZ NFIB UBE3A ZMIZ1 WFS1 HDAC4 TSC1 SDHC SETD1B IREB2 DOCK8 RPL10 WDR26 CNTNAP2 MYT1L GABRD PCDH19 SCN2A PPP3CA NDUFAF2 EHMT1 NDUFA13 TRIM8 DMPK RAB11B DOCK3 EHMT1 ANK3 DYRK1A GABRB3 UFD1 NDUFV1 CLP1 HNRNPH2 GTF2I MAGEL2 MECP2 SCN2A STAG2 SHANK3 FMR1 KDM3B GNAQ KMT5B CYFIP2 KCNA2 LMAN2L MED13L TMEM126B NHS FRMPD4 KANSL1 NR2F1 TRAK1 PIGC MAPK10 PIGP UBA5 SETD5 CUX2 CHD2 MED12L SCN1B CARS2 DYRK1A CDKL5 PARS2 PIGY TMEM138 CHD7 SCN8A STXBP1 RNF135 UPF3B SMC1A CDH2 NDN KIRREL3 NDUFAF4 SETD2 SOX2 NALCN GPHN DHDDS OTUD6B METTL23 BCKDK HCFC1 CREBBP SMC3 HIVEP2 ADNP IQSEC1 RAB11A ST3GAL3 SCN1B PGAP1 TRMT1 HIVEP2 SNRPN FTSJ1 RERE PIGG RSPRY1 TBCK SLC25A22 STX1B HDAC8 NEUROD2 HERC2 ZNF462 TCF4 GFM1 ALG13 DLG3 GFM2 EFL1 EP300 C12ORF4 MAGEL2 GABRD FMN2 CC2D2A MAP1B TCF12 IQSEC2 KMT2C DDX3X NLGN4X ADGRV1 MFF MED12L SCN3A SDHD AHDC1 MECP2 GNAO1 BCORL1 NTNG2 KCNT1 BAZ1B TRAPPC4 EXTL3 GAMT COMT CRADD NDUFAF1 USP7 GRIA3 GRIN1 MEIS2 NTNG1 GABRG2 ARHGEF6 GATM ACOX1 AGTPBP1 KCNAB2 SLC6A1 RPS6KA3 PRKAR1A AUTS2 RLIM TRIO PAH UCHL1 PIGQ IL1RAPL1 GRIA3 OCA2 NAA10
Protein Mutations 1
S1009A
SNP 1
rs6971
Protein Mutations 3
D89E S1009A V600E
SNP 0
HP:0002088: Abnormal lung morphology
Genes 1425
KMT2D SMARCB1 ABCA12 MAT2A TNFSF11 TRAIP MAGEL2 DNAAF1 NFE2L2 MITF NFKB2 LCK MAGEL2 SGCG ALG9 TECPR2 GTF2IRD1 CALCRL KAT6B CHAMP1 OFD1 CTRC SCNN1G CD247 MGP TGFBR2 SPINK5 CTPS1 RASA2 NHLRC2 PHGDH RTEL1 NTRK1 NGLY1 ARVCF SLC2A10 RELB ZNF341 RSPH9 FCN3 NELFA RREB1 NAA10 MALT1 HPGD CFTR GLI1 OCA2 LETM1 NPHP3 PIK3CD FSHR FMO3 USP9X TCF4 WDR35 PRSS1 HLA-DPA1 DNAH11 RIT1 ZAP70 STK11 NKX2-5 UNC119 CDC45 BUB1B SNAI2 WAS SIM1 GNPTAB DYNC2H1 FOXH1 CFAP221 TARS1 NF1 NEB LAMB2 TTC7A CCR6 RARA ACTL6B MYO5A CD81 ADNP TNFRSF13B SEC24C TBX1 MYH6 COL3A1 TSC1 CYBA HLA-DPB1 TERT GNS FOXH1 EVC2 LIPN KATNIP TPM2 RRAS2 TSC1 EPHB4 COL6A1 NIPBL SPAG1 FLNB IL17RA HSPG2 ITGA8 GAS1 SLC12A6 EFEMP2 CRLF1 SLC26A2 GMNN DGCR8 ACTA2 CTLA4 SLC35A1 ADAMTS3 TAPBP SLC25A24 PRKCD SPECC1L CCR6 CXCR4 HOXD13 BLM RNU4ATAC CFAP300 FOXP1 CDON CD79A TTC21B CBL RAG1 VPS51 DISP1 USB1 NUP107 NEPRO COL11A2 FLNA CR2 ACVRL1 LAMTOR2 NEK1 SNORD115-1 GLE1 MAP3K20 DNMT3B SLC26A2 FAS MKRN3-AS1 LYST PIK3R1 ACADVL LIFR TDGF1 TAPT1 RFX5 VPS33A MYRF MDM4 HRAS TBC1D24 NGLY1 GLI2 FGF8 ODAD4 CCDC40 MYH11 C11ORF95 MCM4 CTLA4 CRELD1 ZBTB24 TINF2 ECM1 CAV1 NAA10 LRRC6 PUF60 CFTR FLCN COL11A2 CR2 FOXE1 CCBE1 ELP1 TFRC AGA SMPD1 PWRN1 MMP21 IPW GATA6 LACC1 TCIRG1 SERPINF2 BLNK IFT80 FLI1 UBB KIF20A STAT1 DLL4 MBTPS2 PAX3 ELP1 SNRPN DISP1 RMRP TGFBR2 KRAS STAG2 IRF8 SIX3 SOX10 KIF1A RYR1 IGHM BTK NOTCH3 DICER1 CYP4F22 CXCR4 RSPH1 MEFV CCBE1 DNAH11 ZIC2 WDFY3 CCND1 CSF2RA POLR3A BCL6 LAMA2 SMAD4 SKIV2L STAT1 SNX10 TERT FGF8 BRAF SFTPC FOXJ1 ATP11A AICDA SHH RYR1 ODAD1 SCARB2 SIK1 HACD1 CHRNG CREBBP TNFRSF13B CITED2 OCA2 MYBPC3 NODAL NOTCH2 CFAP298 SELENON CEP57 CTLA4 TRIM28 ZIC2 ALMS1 DOK7 ODAD4 IDUA DLL1 ELN SBDS COG6 TBX6 RFXAP PEX13 TCTN3 PTPN22 DGCR6 SFTPC RAG1 INTU EDNRB FGF20 MAGEL2 DNASE1L3 RASGRP1 STRA6 IFT81 COG4 MARS1 EPM2A MESP2 TTC12 SOS1 TBC1D23 IL12A-AS1 ENG SCNN1B CSF2RA TGFB1 CCN2 FBXW11 MAN2B1 HLA-DRB1 PTCH1 NPM1 EPG5 UGP2 GLI2 GAS2L2 TSC2 PPP1CB RANBP2 SCN11A GPKOW CBL CTLA4 IL12A MESP2 IL21R CRELD1 IL17RC UMPS TERT SLC18A3 MYSM1 DSE TRPS1 PEX1 MKRN3 RTEL1 RPGR DYNC2H1 PRKG1 DSG1 ACP5 FLT4 JAK3 TCF20 EXOSC9 MIR140 DNAL1 NCF4 ACTC1 IFT80 FGFR3 ALG14 VAMP1 RTL1 ESS2 WRN TGFB1 MKS1 DYNC2LI1 EWSR1 FGF20 CD3E POU6F2 ELN IDUA SFTPA2 SFTPB ATP5F1A FANCF PLCG2 SLC29A3 NDN PIGL RAG2 RAG2 SLC46A1 SLC2A10 RET PGM3 GBA IL2RG SULT2B1 DNAJB13 JMJD1C TP53 SDR9C7 BUB1 MSN MYOD1 FCGR3A SHROOM4 PNP COQ7 ACTA1 ERF MYSM1 ZEB2 ETFDH AGTR1 LEPR TBX1 PIGT FLNC DGCR2 NCF4 ODAD2 IFT172 RFXANK KAT6B DNAI1 GBA NEK10 DNAI1 KIAA0586 MPLKIP CCNQ MDM2 AGA LAMC2 RAG2 LEPR IL17F DCLRE1C SPIDR LIMK1 PEPD CCN2 ITGA3 MYT1L ZBTB24 STAT5B NCF1 CD3D EP300 RIT1 IL2RB GLI2 DICER1 COL6A3 FBLN5 TASP1 DCLRE1C FARSA CDC42 PYROXD1 IL7R TBC1D24 PLCG2 GAA ODAD3 STAT4 LTBP4 NFKBIA PKHD1 IL17RA KRAS MCTP2 BPTF IGLL1 SCNN1A ODAD3 TK2 PSMC3IP TPM3 RNF113A MBTPS2 IGHM PDGFRB RAF1 FASLG CCDC39 MUSK FAM111B NDUFAF6 TRIP4 MS4A1 SMN1 MUSK PRKAG2 SMARCC2 HLA-DRB1 CFH LEP CYBB LMNA PSMD12 NEU1 CD3E PTPRC STAT3 PLG CHRNA1 FOXH1 TNNI3 PRKAR1A TYK2 LOX FLCN NEK9 ORC6 RNF168 PTPN11 CARD11 CD3G LONP1 TGFBR1 CC2D2A GNPTAB IDUA TREX1 CYBB NBN NRAS LPIN2 DNAAF6 TGIF1 WAC ADA FBN1 STAT3 SETBP1 ACTA1 STRA6 CD3D STAT3 ZMIZ1 ETFB RSPH4A SFTPC HLA-B TBX5 TSC1 DNMT3B A2ML1 RPL10 RPL10 MEFV TP53 ITCH BRCA2 IRF2BP2 GAS1 ASXL1 NEK10 CCDC22 SAMD9 MYH7 WNT4 DOCK3 CD247 CFI RCBTB1 UFD1 TREX1 ASAH1 INPPL1 NOTCH2 SERPINF2 MECP2 DKC1 KAT6B MEFV GLDN CHRNG HYDIN CDT1 DNAAF2 IL6R LAMB3 NFKB1 RUNX2 IL1RN GLI3 IRAK1 KANSL1 DLL3 PTCH1 TGFBR1 NDUFB10 REN TDGF1 ABCA3 RAG1 KIF11 FGFR1 UBE2A MYOD1 NFKB2 PIK3CD SMN1 FREM2 TGIF1 LAT HELLS ZEB2 RSPH9 NSDHL SERPINH1 MTHFD1 FAM13A SETD2 PAX6 SOX18 SMARCD1 OCRL SLC52A3 BMPR2 DZIP1L TDGF1 WDR1 ALB CD28 ADA2 RAPSN DLL1 RBPJ WDR19 HLA-DRB1 SHH BMPER MYLK TMEM94 SIX3 PML TGFB3 MYL2 STAG2 TBL1XR1 FBN1 EFL1 TERC BUB3 HES7 FOXC2 RBM10 CFAP410 MASP2 TRIP13 GLB1 MEG3 MYH3 LIG4 PARN RHOH NFKB2 EDARADD DNAAF6 BCR RNF125 TLL1 DCLRE1C SCNN1A GPC3 ASAH1 SNAP25 NR5A1 NHP2 DNAAF5 DLL1 EXTL3 PRPS1 MAN2B1 FANCB COMT ZMYND10 FOXN1 PRKCD BLNK NTNG1 IL2RG IL7R EMG1 TRPV4 SMPD1 ETFA IRF5 NODAL WT1 NECTIN1 LAMTOR2 RAG2 ROR2 ADA FCGR2A IER3IP1 CYTB KDM6A BTNL2 WNT3 TLL1 ALOXE3 TGIF1 ASCC1 PIGN BNC1 RIPPLY2 BAP1 NOS1 NXN DSP DNAH1 ITPR1 IGH PIEZO1 CSPP1 COL3A1 ARHGAP31 MS4A1 NODAL USB1 LRRC56 NPM1 TSC2 ATP6V0A2 DHCR7 ZBTB16 EPG5 TINF2 CASP8 PRPS1 IKBKB ARID2 SHH ARID1B RLIM EGFR CDKN2A LAMA3 SFTPA1 IKZF1 CAV1 PLOD1 PRKDC LMNA JAK3 BMP2 AKT1 CFTR ELN AGT DNAAF4 ATP6V1E1 IFT140 BTK BTNL2 COPA PEPD SCNN1B KCNJ6 GAA MCIDAS PTEN SOX4 ZMYND10 UNG GATA6 DYNC2I1 PSAT1 GATA4 SLC26A2 NDN BCOR NAB2 CD81 NKX2-1 PLOD1 PLEC FUZ CRTAP FGF8 GAS1 ABCA12 REST B3GLCT IGH CLIP2 SCNN1B H19 CYBC1 ELN RAG1 ALDH18A1 MYT1L KLHL41 ACE RSPO2 CLEC7A HIRA GP1BB DRC1 GDF1 TP53 GLI3 SVBP TCIRG1 FRAS1 IRF5 GDF1 PMM2 PAFAH1B1 ZMPSTE24 TGM1 DLL1 SIX3 CCNQ TIMM8A ELN PTEN FUCA1 MYD88 SPAG1 ARID1B AGGF1 THOC2 ABCA3 ARSB CFB PORCN HFE SOX11 NOTCH1 FOXP3 TERC USP9X P4HTM DRC1 AP3B1 CBL POLA1 CDON PKHD1 TAF1 COLQ SON TRPV3 TSC1 DVL3 TCF3 TRIP4 CHEK2 FLNB STAT5B STXBP2 CREBBP NPAP1 FAM20C STK36 DOCK8 SLC7A7 DDR2 TTC37 CD8A DOCK6 CD46 CCDC65 BCL2 INPPL1 DIS3L2 MFAP5 TNFRSF13C KNSTRN RPS15A GLA SELENON LRRC6 KMT2E SLC5A7 TERT GRIP1 DYNC2I2 PTPN22 FAT4 SHH IFIH1 IL7R PARN ARHGAP31 CSF2RB CHST14 TANC2 CIITA ZIC2 FLNA G6PC3 MARS1 BACH2 ZNHIT3 DNAJC21 SH2D1A CCNO COL13A1 DISP1 IL21 HYDIN MGP IL2RA MED25 GSN FOXH1 SLC35C1 PNP PRTN3 SP110 ARID1A MEFV NOD2 SERPINA1 NHP2 MED13 FRAS1 NBN MCIDAS FCGR2B KLHL40 BLM RAG1 RRAS TAP1 SNRPN ADGRG6 NADK2 SLC26A2 DDR2 ZAP70 MAGT1 FGFR1 GATA2 ALOX12B TMEM260 IFNGR1 SMAD4 SLC7A7 NFKB1 RB1 RARB APOE GATA6 DOCK8 AP3D1 SOS2 STING1 CASP10 B2M FLCN SRP54 ZEB2 TNFRSF13C FADD C4A TTC12 TAP2 KPTN STN1 LBR SNRPN DNAI2 MRAS COL2A1 RNF168 CHRM3 CCNO CHRNG RAC1 FGFR3 LGI4 ADA NUP88 TBX20 ODAD2 BCL10 FLNA SLC25A22 ELN SMO GBA TGFB2 NUMA1 RAG2 GATA4 DNAH9 SMARCA4 TNFRSF11A IRAK4 GUSB CD40LG SCNN1G SLC34A2 DHCR7 MIF GUSB KITLG KIAA0586 GRIP1 NSD2 DPF2 SLC35A1 EIF2AK4 GBA SPP1 NCF2 MKKS GAS2L2 MYH3 TBCD HLA-DRB1 PTPN22 RAC2 DDX6 CEP57 RELA PTCH1 DNAI2 ZFPM2 TPP2 RAG1 STAT6 IFT43 KANSL1 PURA LRRC56 DNAAF1 SCNN1G IL6ST ACP5 XIAP IL2RG FANCB IGLL1 AFF4 SCNN1B BCORL1 BTK PCNT MUC5B MRPS22 CDON COG4 PRKCD PTPN11 LRRC8A PHGDH BGN DVL3 PSAP HLA-DQA1 DYNC2I2 SLC35C1 PWAR1 SLC1A4 CR2 TBCE AGRN CTCF FBLN5 VANGL1 TRIP11 NKX2-5 TSC2 GFI1 TNFSF12 GAS8 MAPK1 SLC11A1 IFNG FBN1 DNAAF2 SCNN1A ACTA1 MESP2 HABP2 NDN SLCO2A1 FOXE3 IDS PANK2 FGFR1 CHD7 DNAAF3 NABP1 DNAAF3 CFI DPM2 OCA2 PCGF2 SFTPB MANBA TNNT2 SRP54 PLVAP CD79B SOX18 INVS DYNC2LI1 RARB CD19 FOXJ1 BMPR2 PIGN LEP PKD1L1 NHLRC1 GPC6 ITCH APC2 GATA6 SCNN1A SERPINA1 ATM GBA DNAJB13 CEP120 TNFRSF1A KIAA0319L CLCN7 NSD1 CACNA1C SPEF2 PIEZO2 DYNC2I1 NKX2-5 CREBBP TBX1 TNFSF12 COL6A2 EFEMP2 RAC2 PRSS2 TBL2 CFTR IL10 CFAP298 DONSON RSPH3 ABL1 EVC SDCCAG8 DNAH5 WIPF1 PARN PDGFRA TINF2 NCF2 TNFRSF1B CEP120 FOXP1 RFC2 NPHP3 BCOR GATA4 SNORD116-1 POLR2A NOP10 CCDC103 OFD1 DNAAF5 GATA6 IL6 POLA1 PDHA1 LMNA CD19 SFTPC SIX3 LTBP3 SMPD1 SMARCD2 RIPK4 CSF2RB PSMB8 HPS4 CRKL PTH1R EP300 RSPH1 PERP ATM ABCA3 DCTN4 CLCA4 CTSC STAT3 CCND1 POLR3H TRIP13 FCGR2A MST1 MUC5B DNAH5 CDON TRAF3IP2 IDS SRSF2 SLC18A3 TRIM28 CD79A PIK3R1 GRHL3 NOP10 HPS6 WNT3 RPGR DPP9 RAF1 SCNN1G CD79B RSPO2 BCL11B IVNS1ABP ACTL6A ZIC2 AFF4 SMAD3 ITGA7 CITED2 ERCC2 RAB3GAP2 TRIP11 IL23R SPINK1 TERC RTEL1 CYBA TSC2 CITED2 GLE1 GPC3 TGFB2 SCN9A RASGRP1 FGF8 SNRPN DYNC2I1 CARD11 POLE ICOS FADD NME8 HLA-DQB1 LMNA PGM3 EOGT CDCA7 WT1 SAMD9L SMC1A ICOS GLI3 SREBF1 CHAT RFX5 FOXF1 TDGF1 CHST14 CCDC40 SMARCE1 DCLRE1C ALMS1 TLR4 NCF1 RSPH3 CYBC1 SLC25A1 PTCH1 IL2RG B3GALT6 GLI2 GAS1 TNFRSF13B TET2 NRAS WAS ZMPSTE24 EHMT1 WRAP53 FAS WDR35 HPS1 NSMCE3 TGIF1 GLUL SH3KBP1 RFXAP CARMIL2 BCOR GTF2I TNFRSF1A MAGEL2 STAT4 HGSNAT SMAD3 FBLN5 MYO9A GTF2H5 NEK8 TERT RUNX1 RYR1 FAT4 CLPB RIPK1 COL13A1 JAGN1 CIITA TBX20 CSPP1 DNAAF4 CCR1 HK1 MINPP1 UBAC2 NFIX RNU4ATAC BIRC3 WNT4 IKBKB CD27 FAS NLRC4 SFTPA2 NDN AARS2 TGFB1 DHCR24 PIK3R1 HYLS1 CREBBP CHRND ALPL ITK VHL CCDC103 GREB1L ERAP1 FARSB RAB27A NAGLU ODAD1 CTC1 ZCCHC8 TRMT1 SNRPN CEP55 PRPS1 DLL3 LYST KEAP1 GBA JAG1 NME8 MYPN STX1A TNFRSF13C FIP1L1 HERC2 ELANE CORO1A SYT2 CCDC39 CFTR GPC4 ITGA8 ICOS RFXANK KLRC4 DNASE1 DICER1 EP300 PRKAR1A MAGEL2 MLXIPL LZTR1 PIGN BMP15 HLA-DRB1 COL2A1 ADAMTS2 WDR19 ALG12 AK2 CD55 HLA-DRB1 GAS8 DKC1 NKX2-1 DLK1 SCN10A DYNC2I2 HELLPAR LMOD3 FLCN WT1 NODAL LRBA ELANE GTF2E2 SGSH GPR35 BAZ1B SFTPB TRAPPC4 PLP1 CACNA1B RSPH4A FSHR TERT CCDC65 WT1 TERC MID1 NR2F2 DHCR24 ERCC3 WASHC5 NIPAL4 LFNG VPS33A CD19 RLIM GALNS OSTM1 XIAP ASAH1 HLA-B DISP1 NAA10
HP:0002090: Pneumonia
Genes 280
TLL1 CHD7 TGIF1 KMT2D ACP5 PIGN JAK3 NOS1 SFTPB SRP54 MS4A1 NODAL USB1 CD79B SGCG ACTC1 CASP8 TGFB1 OFD1 CD19 CD247 NHLRC1 SHH NTRK1 EGFR LAMA3 PLOD1 FANCF JAK3 RAG2 PGM3 CACNA1C BTK IL2RG PIK3CD CREBBP KCNJ6 FMO3 ACTA1 TNFSF12 GATA6 ZAP70 PLOD1 UNC119 FGF8 GAS1 DNAI1 WAS GNPTAB FOXH1 CYBC1 LAMC2 RAG1 PEPD PDHA1 PMM2 PAFAH1B1 CD19 CD3D SIX3 CD81 DLL1 LTBP3 EP300 TNFRSF13B SIX3 GLI2 SMARCD2 TIMM8A MYH6 DCLRE1C ABCA3 IL7R TBC1D24 STAT3 CFB FOXH1 FOXP3 FCGR2A P4HTM AP3B1 POLA1 TK2 CDON PKHD1 TAF1 CDON NIPBL GRHL3 GAS1 EFEMP2 CRLF1 SLC35A1 SLC25A24 DOCK8 ZIC2 LEP AFF4 DDR2 CD3E PTPRC BLM RNU4ATAC TNFRSF13C KNSTRN CDON SELENON FOXH1 ORC6 RAG1 RNF168 SHH DISP1 CYBA IL7R CARD11 LONP1 COL11A2 CR2 FGF8 ZIC2 CARD11 CYBB NBN ICOS DNAJC21 DNMT3B DISP1 TGIF1 HLA-DQB1 ADA SETBP1 MED25 FOXH1 SLC35C1 ACADVL TDGF1 PNP SP110 SMC1A ICOS SREBF1 TDGF1 NBN DCLRE1C ALMS1 GLI2 MCIDAS FGF8 NCF1 RAG1 PTCH1 NADK2 IL2RG ZBTB24 ZAP70 GLI2 FGFR1 GAS1 TNFRSF13B GAS1 IFNGR1 CFTR COL11A2 CR2 SAMD9 CD247 TGIF1 TREX1 CARMIL2 TCIRG1 BLNK UBB SRP54 LAMB3 DISP1 RMRP TNFRSF13C NFKB1 STAG2 IRF8 PTCH1 SIX3 KPTN TBX20 TDGF1 CSPP1 IGHM BTK NFIX RNU4ATAC CXCR4 NFKB2 RAC1 CD27 TGIF1 ADA TBX20 ZIC2 MTHFD1 RAG2 GATA4 TNFRSF11A DZIP1L FGF8 KIAA0586 SHH TDGF1 RYR1 ODAD1 WDR1 CREBBP CITED2 DLL1 NCF2 TBCD SHH NODAL RAC2 SIX3 GBA PTCH1 DNAI2 ZIC2 TNFRSF13C ALMS1 PURA STAG2 DLL1 SBDS ICOS EFL1 ACP5 SFTPC CFAP410 MASP2 IL2RG IGLL1 AFF4 BTK LIG4 NFKB2 WDR19 CD55 CDON GAS8 EPM2A NKX2-1 RNF125 DCLRE1C NODAL LRBA ELANE MAN2B1 DLL1 PTCH1 HLA-DQA1 EXTL3 SLC35C1 MAN2B1 FOXN1 PRKCD GLI2 RANBP2 MID1 IL2RG FBLN5 NKX2-5 NODAL GFI1 TNFSF12 RAG2 ADA IL21R KDM6A OSTM1 ASAH1 DISP1 PANK2 FGFR1
SNP 0