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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation S1009A

Developed by Shray Alag, 2020.
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 Autoimmunity Interstitial pneumonitis Interstitial pulmonary abnormality 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 638
LMAN2L WFS1 KCNA2 TRIO POGZ CAMTA1 SLC25A22 PIGP NDUFS6 GPHN MID2 LSS SHANK3 LINS1 ZNF41 TBC1D23 RAB39B LIMK1 CNKSR2 SCN8A UBTF EXT2 USP27X EEF1A2 GRIN1 NR2F1 STXBP1 ACTL6B CRADD PIGO GP1BB ALG13 MTOR EGF C12ORF4 TAF1 PRKAR1A SEC24C CHD2 SYNJ1 SYT1 NOVA2 ATP1A3 CACNA1C DMD NUS1 ZBTB20 CRBN WFS1 RLIM FRMPD4 WWOX DLL1 PRKN DEAF1 FTSJ1 HCFC1 SOX2 RPS23 TM4SF20 LRRK2 MECP2 ELN PPP2R5D SCN1B DNAJC6 CXORF56 AFF2 TCF20 JMJD1C MAN1B1 UFD1 ZMIZ1 CREBBP FBXW11 C9ORF72 HECW2 ZFPM2 HNRNPH2 CHRNA7 TSC1 AHDC1 GTF2I TUBB3 NECAP1 FTSJ1 SYNGAP1 C12ORF4 NSD1 SNX14 GABRB2 SATB2 NDUFA1 NDUFA11 FOXG1 STS CXORF56 RORA NDUFAF4 SETD5 GABRA2 HERC1 MSTO1 SYN1 SDHC NAGA GABRD TCF4 HERC2 MED12 NLGN1 TRAK1 CHMP2B OTX2 USP9X TLK2 AUTS2 SCN3A JAM2 OTUD6B BCOR CDH15 PWAR1 PUF60 MECP2 GRIA2 MBOAT7 NEUROD2 GATM GFM1 CUX2 CYFIP2 CACNA1B POMT1 KMT2A SCN2A NAA15 SQSTM1 RAD21 MECP2 POU3F3 DDX6 TREM2 ZIC1 PIGG RIMS2 HIVEP2 SBDS PTCHD1 DYM NPAP1 RERE TANC2 KLLN ARNT2 KDM5B SLC13A5 NDUFAF3 SLC6A8 SNORD116-1 NDUFS4 ARHGEF6 CARS2 MAP1B GABRA5 MED13L GDI1 WDFY3 IARS1 SVBP DCX STXBP1 YY1 CHD1 PCDH19 DDX3X SCN1A ANKRD11 IFNG RNF135 SYP CREBBP ND3 HERC2 GFM2 BCORL1 SLC9A6 NIPBL MKRN3 SNORD115-1 TCF12 CDKL5 TMEM126B NDP ACOX1 CASK GAMT NDUFAF1 NAA10 TSC1 DEAF1 SLC6A1 TBCK TSPAN7 FMR1 NLGN3 WAC GRIN2D SCN8A PSMD12 DNM1 EXTL3 ADSL SLC35A3 PRODH NSUN2 B3GALNT2 RAI1 EZR MED12 NDUFA6 CDKL5 RERE ALMS1 STXBP1 HDAC8 KMT2E TIMMDC1 ALDH18A1 DCPS ASH1L TWNK PUF60 AUTS2 GRIA3 GABRG2 GJA8 CNNM2 CHD2 ST3GAL3 DOCK3 USP7 PROKR2 TMEM231 PIK3CA ARV1 STXBP1 SON CNTNAP2 FMR1 HNF1B PCGF2 SLC1A2 TRMT1 PCDH19 PPP2CA SEC23B GRIA3 SMC1A CLTC PIGP CC2D1A CTCF ALG13 PGAP1 EFL1 TRAPPC9 KCNT1 CEP85L SLC25A12 RSPRY1 MAPK8IP3 ARX AP3B2 SETD2 NTRK2 IQSEC2 RAB11B KCNB1 NDUFB11 HESX1 CNOT3 NEXMIF TECR VCP MFF PGAP3 NDN COG5 DYRK1A BCKDK MECP2 ND2 FLCN PTCHD1 PIGQ AKT1 UCHL1 MEIS2 MAPT HCN1 NUBPL TRAPPC4 FRRS1L CTNNB1 GABBR2 KPTN MKRN3-AS1 PIGY TCF4 AARS1 TRRAP PACS1 RPL10 FRMPD4 PARK7 CHD7 LHX1 DOCK7 DHCR7 ZMIZ1 ACSL4 SNRPN PHF21A THOC2 KDM6B AP2M1 NTNG1 GRIK2 NFIB AIMP1 GNAQ DNAJC21 DYRK1A ALG11 SH2B1 CDH2 ANK3 NDUFB3 GABRA1 DLG4 PINK1 PAK3 TCF20 TMEM138 ADNP NRXN1 CDK19 CDKL5 SETD2 NDUFV1 RREB1 MED25 TMEM216 TBR1 NDUFS7 ZNF423 PSEN1 ARVCF NDST1 GALNT2 KMT5B IQSEC2 PGAP2 PIGC CLIP2 SIM1 TBX1 TMLHE SETD5 SYNGAP1 PPP3CA CNTNAP2 EHMT1 SYNJ1 SIM1 SH2B1 FBXO31 BAZ1B RSRC1 ACTL6A NDUFS2 PRSS12 METTL5 PLXND1 UPF3B PIGV SLC25A1 MED13 UGP2 AP1S2 RFC2 TUSC3 AP3B2 CACNA1A POLA1 ND1 PDE4D SCN2A PODXL OPHN1 USP7 ATRX FGF12 EP300 NDUFS3 PIGL NLGN4X NDUFAF2 RSPRY1 SEMA3E ACTL6B SHANK3 SPECC1L DMXL2 ZNF711 SLC35C1 GATAD2B CLCN4 DLG3 MED23 TBR1 TRIM8 OTUD6B MAGEL2 TBC1D24 RPS6KA3 CDK8 GABRA2 PARS2 PPM1D CC2D2A HNMT MED12L MYT1L NDUFS8 SCN1B NDUFAF4 SYNGAP1 MYT1L FOXRED1 SPATA5 KAT6A SMG9 SNRPN SLC6A8 VAMP2 ST3GAL3 NONO ASXL3 EXT2 FOXP2 CLCN4 ZNF462 NHS VPS13C SIN3A NDUFB10 SNCA NDUFS4 UBA5 STS SRP54 MCTP2 PTEN ACADL WASHC4 MAGEL2 NAGA GABRD EP300 SOX3 PTEN FMN2 GRN REV3L GABRG2 KCNAB2 WAC SNX14 PSMD12 CLP1 USF3 NTNG2 GABRB3 UBE3A HDAC4 DHCR7 ADNP TSC2 SDHD HCN1 SKI CLCN4 SCN2A SCN9A CREBBP DHDDS NDUFS1 FOXG1 KCNA1 NEXMIF BPTF RERE MAOA DNM1 COMT NDUFV2 TBX1 SMAD4 AGTPBP1 GTF2IRD1 NEUROD2 STAG2 PACS2 NLGN3 DEPDC5 NUS1 KCNA2 IQSEC1 MED13L NDUFAF8 PAH PIGL UBA5 DALRD3 GABRA5 SLC45A1 GJA5 SCN1A YWHAG SMC3 STAG1 IREB2 TAF1 MAPK10 DPYD NALCN PDE4D SIK1 CNKSR2 PIGW TMEM237 MEF2C KMT2C CDKL5 MED13 AGTR2 TBX2 IPW NDUFAF5 APC2 AP2M1 ALDH5A1 FGFR1 SZT2 CLIP1 CUX2 ALG13 EP300 INTS1 CACNA2D2 IL1RAPL1 MEIS2 TNIK SCN9A METTL23 BCORL1 DYRK1A SLC35A3 TET3 NDUFAF3 EHMT1 SCN1B EP300 ADGRV1 PWRN1 FOXP1 TBX1 HCN1 SIN3A IL1RAPL1 SRP54 MEF2C NDUFA13 CREBBP CHD8 SARS1 GABRG2 EDC3 TSC2 CEP290 SLC9A7 POLA1 ARID1B WDR26 SRY IQSEC2 MICOS13 ATP6V1A SDHB CTCF NTNG1 PNKP NAA10 RARS1 KDM3B POLR2A MECP2 SCN1A KAT8 TBL2 HIRA ZC3H14 NDUFB9 NTRK2 SVBP DMPK STX1B ZNF81 GNB5 PRDM16 TMEM106B CHD2 MAN1B1 MBOAT7 ARX PDE4D SIM1 TANC2 KDM5C HTRA2 ARFGEF2 DPYD GNAO1 NLGN4X FBXW11 SH2B1
Protein Mutations 1
S1009A
SNP 1
rs6971
HP:0002088: Abnormal lung morphology
Genes 1393
CDC45 SMARCA4 TBC1D24 ELN SNX10 SLC1A4 GRHL3 CFAP298 RSPH4A EDNRB TMEM94 CARD11 LPIN2 CD3E COG4 PGM3 ECM1 GNPTAB LIMK1 HLA-DRB1 CFTR CD247 PDGFRA LMNA FBN1 NTRK1 SOS2 PSAT1 ZBTB24 GP1BB MANBA CLEC7A IL2RG TARS1 DNAAF2 NSD2 SEC24C DNAJB13 DNAAF3 EXOSC9 DYNC2LI1 NELFA EDARADD NPHP3 STING1 GDF1 COL2A1 MAP3K20 CTRC HLA-DPB1 OFD1 SMARCD2 ABCA12 ERCC6 FGF20 LZTR1 SCNN1G SLC25A24 BLNK NKX2-5 TRIP13 SOX10 GAS2L2 TYK2 HELLS TTC21B FOXH1 DNAAF6 INPPL1 ITGA8 PERP EIF2AK4 OCRL GPR35 GTF2E2 NEB FOXC2 MASP2 STAT5B COL11A2 FBXW11 MYO5A CTLA4 LBR FCGR2A PRKCD RANBP2 HYLS1 IL21R DGCR8 BMPER GATA4 NSD1 TSC2 FLCN LTBP3 CYBA SPINK5 ATP5F1A CTLA4 FLT4 TERC KCNJ6 FOXH1 TCF4 NAGLU GUSB SHROOM4 EVC LIPN RNU4ATAC TPM3 PTPN11 CDT1 MUSK HERC2 NEK1 FLNB EPG5 GAS1 FBLN5 NRAS ACP5 MCIDAS MAN2B1 TIMM8A COL13A1 BCOR MYLK PTPN22 SLC35A1 SLC46A1 HGSNAT RASGRP1 LYST ZNF341 XIAP LRRC56 FGFR1 IGH NODAL WDR19 LETM1 TRIP4 EFEMP2 NCF1 MCM4 SFTPC SOS1 STRA6 RSPH4A IL2RB RAG2 RAC1 DISP1 PHGDH WRAP53 PSMC3IP RBM10 PANK2 PEX1 TNFRSF13C GLI3 WNT3 ARID2 SBDS NPAP1 ACTA1 BLM CD40LG BRAF ICOS FASLG PRKN CCDC103 SNORD116-1 FOXP3 MEFV PTEN TDGF1 IL6R CIITA SLC2A10 CYTB ENG GLI2 FGF8 DNAJB13 CCDC39 STAT6 INVS IDUA GATA4 RPS15A NOP10 IFNG HLA-DRB1 FLNA JAG1 HABP2 VANGL1 GNPTAB MYBPC3 TBX6 MKRN3 SNORD115-1 LACC1 ELANE SMN1 DYNC2H1 KIF20A RPL10 ARHGAP31 PGM3 PEX13 CDON IL7R RAF1 SCNN1A STAG2 PLEC FLI1 CITED2 SIX3 TCIRG1 ETFA MITF MST1 ZNHIT3 LAMA2 IFT81 PDGFRB CYP4F22 DNAAF4 HLA-B FAT4 ZIC2 CALCRL KMT2E HFE CSF2RB CD55 IGH TTC37 DICER1 NFKB2 PEPD GPC6 TNFRSF13B FGF8 RAF1 ABCA3 STK36 RFX5 DPP9 RYR1 SFTPA1 SHH SKIV2L IRF1 LAT DCLRE1C SON SLC25A22 TLL1 AP3D1 TGFBR1 NODAL AGT ZMYND10 SOX18 NOS1 TPM2 BUB1B TRIP11 ERAP1 TNFRSF1B REST ZIC2 CTCF RAC2 CTLA4 PLP1 GAS1 EFL1 FMO3 TRIP4 RYR1 CIITA DLL3 AP3B1 PRTN3 PIGN TBX1 ABCA3 EFEMP2 AGA CHRND PCNT PKHD1 RSPH1 ZAP70 PAX3 NDN CHRNG NHLRC1 ACE DNAH1 KRAS IL12A KEAP1 ALDH18A1 SCNN1G ACADVL DCTN4 IRF5 TRAPPC4 CCN2 PTCH1 DKC1 GMNN TNFRSF13B GLI2 MCIDAS SCN11A ROR2 IVNS1ABP TRPV4 TSC1 FANCB ZEB2 RPL10 ODAD1 MESP2 CHST14 IL23R SLC12A6 MGP CFAP300 SMAD3 RSPH9 UMPS DHCR7 KRAS SFTPC COL13A1 SNRPN BUB3 FAM13A GAS8 WDR35 MFAP5 CACNA1B ZCCHC8 NTNG1 FLCN AK2 INPPL1 CHAT CCDC40 IL2RG CDC42 DYNC2H1 CD3G TASP1 SLC18A3 DGCR6 HOXD13 SCNN1G WT1 KAT6B WT1 MAP3K8 STAT1 ACTA1 TGFB3 MUC5B PRKAG2 SMN1 TAP1 SMAD4 ABL1 MED25 CHD7 TERT COG4 LMNA SULT2B1 GBA SPEF2 RREB1 SDR9C7 CEP57 CFI IDUA FUCA1 FLCN TBX1 HPS4 PIGT SAMD9L FLNC ESS2 NCF4 LRBA DRC1 DYNC2I2 RFXAP KIAA0586 DNAH5 DOCK8 PTEN MAN2B1 ZMPSTE24 TP53 ATM LAMC2 ACTL6A TRAF3IP2 POLR3H RELA TBX5 PARN CR2 IRF5 MED13 NUP88 GALNS TAP2 AFF4 UNG DNAAF4 RFC2 BCL11B NCF1 HPS1 CD3D RELB PTPN11 ODAD4 TDGF1 KAT6B PMM2 CYP2A6 RUNX2 POLA1 SGSH RIPPLY2 SERPINA1 WAS NDUFAF6 MMP21 SPP1 GLDN NSDHL ZFPM2 IL17F IL6ST IRAK4 KAT6B ACTL6B LRRC8A TAPBP CCNO GLI3 PLCG2 HK1 BMP15 TMEM260 MYL2 LEP ERCC3 TRPV3 IGLL1 EPM2A CCDC65 PRKCD SLC18A3 TAPT1 BMPR2 CD79B SLC7A7 FLNA FAM20C HLA-DRB1 SLCO2A1 CD46 XIAP DKC1 CYBB MYT1L CD3E AFF4 MESP2 VHL POLE BCOR FOXH1 BMP2 HYDIN TNNI3 RARA MAT2A EOGT NFIX MEFV DVL3 PTH1R BCL10 RNF168 CBL ITGA8 NEU1 KRAS CEP55 MYD88 NPM1 IGLL1 TP53 RSPO2 RRAS TRIP11 TGIF1 WAC ADA PKD1L1 UNC119 ACTA2 PSMD12 ACTA1 STRA6 PIGN GAA CD8A BCOR NEK9 TERT DHCR7 IKZF1 TSC2 LEPR SLC35A1 MUSK ARSB COG6 VPS51 COLQ WDR1 RASA2 TTC7A LTBP4 BTK GPC3 STAT3 GAS1 RUNX1 TTC12 WASHC5 INTU CD3D WT1 STAT3 BPTF CRTAP SLC2A10 COL2A1 COMT CCDC40 ASAH1 LIFR MEFV ACVRL1 MYH3 FAT4 DNAI2 LAMB3 PIEZO2 FOXE3 GRIP1 NFKB2 PIGL PTCH1 TGFBR2 ATP6V1E1 COL6A3 IL1RN PAFAH1B1 FOXH1 TP53 CRELD1 MBTPS2 RYR1 TNFRSF13B GRIP1 TGIF1 CLCN7 SP110 CC2D2A COL6A1 STN1 APC2 ITPR1 TCTN3 SMARCC2 PNP SLC11A1 GLUL PKHD1 ALPL BLM ACP5 WDR19 ASCC1 TDGF1 TFRC MGP DLL1 WNT4 IFT140 CCN2 SHH SMAD3 TGIF1 PRKAR1A EHMT1 EP300 CASP8 TGFBR1 ITGA7 AARS2 ERF DNMT3B FGFR1 IRF2BP2 CHRNG HLA-DQB1 SPAG1 SRP54 UBE2A CCNQ TINF2 BUB1 LFNG CARD11 DHCR24 ARID1B SELENON RMRP WAS NEK10 MAPK1 GATA6 SCNN1B TRIM28 DHCR24 SYT2 DOCK6 USB1 B3GLCT DLL1 CCR1 POLR3A PRPS1 HIRA RSPH1 SLC26A2 TNFSF12 PIK3R1 IER3IP1 GSN TINF2 NME8 SVBP LIG4 IL7R ALB COL11A2 COL3A1 NHLRC2 KIAA0319L TGFB1 DLL1 IFNGR1 LAMTOR2 DNAAF5 NXN CTLA4 CEP57 HLA-DRB1 MINPP1 CASP10 PTPN22 TBX20 RAB3GAP2 ALOXE3 ZIC2 NUP107 HES7 LRRC56 HLA-DQA1 KIF1A GAS8 TERT PSAP DNAI2 NOTCH2 DPM2 CD81 NODAL DNAH9 NABP1 PRKAR1A NUMA1 TBC1D23 NFKB2 DLL4 ORC6 FANCB SMARCB1 FCGR2B SIX3 GBA GATA4 MDM2 LAMA3 DSP KIF11 MLXIPL HLA-DRB1 NOTCH2 ADGRG6 DNAH5 SLC26A2 DYNC2I1 ATP6V0A2 EGFR ZBTB24 LYST ODAD4 CACNA1C CYBB RNF125 DPF2 RIT1 CITED2 RLIM WDR35 DYNC2I2 GATA6 RTEL1 IRF8 DISP1 GAS1 ABCA12 TRIP13 GPC3 ODAD3 DNAAF2 MECP2 BIRC3 SFTPB ELN CFTR NOTCH3 SCNN1A KMT2D DIS3L2 MDM4 IL17RA EPHB4 CCDC39 FBLN5 SPIDR TCF20 KLHL41 WNT3 IL17RA FCGR3A JMJD1C VPS33A UFD1 ODAD1 IKBKB CHEK2 FADD RSPH3 ZMIZ1 CREBBP TNFSF11 SCNN1B FREM2 CCR6 AGA SCNN1A ADA RAG1 RAG1 LMNA BRCA2 TGM1 TSC1 DLL1 SIX3 CARMIL2 GTF2I AKT1 CCDC65 ARID1A FGF20 RIPK4 ALG9 CFB RAG2 SCNN1G APOE SOX4 RAB27A MUC5B EWSR1 NECTIN1 ZMYND10 SGCG DNAAF6 CDON TAF1 IGHM LMNA LAMB2 LEP CSF2RA CD79A CFTR HPS6 DOK7 RCBTB1 CCBE1 FIP1L1 COQ7 SERPINF2 PWAR1 RPGR VPS33A ELN SPECC1L TET2 BTK SCNN1A RLIM IL7R EPG5 HLA-DRB1 TGFB2 PIK3CD GLA NBN HYDIN PSMB8 VAMP1 SDCCAG8 TINF2 FCGR2A SHH ARHGAP31 RAC2 CD19 DSE DDX6 HLA-B SERPINH1 GLI2 FLNA MARS1 ALMS1 SCNN1B ITCH SPAG1 DISP1 DNAAF5 IDUA TGFB2 FGF8 MSN SMARCE1 CHST14 WRN BCR FGFR3 SERPINA1 WDFY3 RAG1 PRPS1 FASLG DNASE1 NIPBL KLHL40 RAG2 MRAS RHOH ZAP70 TK2 FGFR1 CREBBP MYRF ALOX12B NOD2 RFXANK MYH11 EVC2 DYNC2LI1 ZEB2 IFIH1 RARB GBA USP9X IKBKB ABCA3 MYOD1 GATA6 CCNO CSPP1 TBCE GBA RARB NAA10 TSC1 FAS WNT4 PLCG2 ETFDH G6PC3 MS4A1 SPINK1 CD19 UBAC2 FLCN EXTL3 GUSB DYNC2I2 ATP11A NGLY1 SAMD9 NME8 TRAIP RRAS2 PYROXD1 SIK1 SLC26A2 RAG1 MYOD1 ALMS1 NKX2-5 IL21 FOXP1 PUF60 LAMTOR2 BCL2 SMAD4 TBL1XR1 ACTC1 FOXJ1 ARID1B HELLPAR SCNN1B DGCR2 DOCK3 FSHR MIF CYBC1 SNAI2 CSPP1 CCBE1 SMARCD1 IRAK1 JAK3 STAG2 PCGF2 CXCR4 LEPR DDR2 BCL6 POLA1 TRMT1 PTCH1 RPGR GATA6 CSF2RB CHRNA1 ASAH1 ASAH1 RAG2 NAB2 TERT MYSM1 BTK FRAS1 DCLRE1C BTNL2 CFTR NOP10 KNSTRN FOXJ1 PEPD TERT NR5A1 CDON MARS1 BRAF TCF3 NKX2-1 ICOS ZMPSTE24 DNAH11 OSTM1 ALG12 KATNIP AGTR1 PPP1CB BMPR2 CAV1 TGFB1 KPTN ADA TPP2 MKRN3-AS1 SLC25A1 FARSB GPC4 FUZ MYH6 HLA-DPA1 FBLN5 SRP54 TNFSF12 IGHM NEK10 RSPH3 TTC12 CRKL RASGRP1 SELENON PTPN22 DLL3 CLPB DOCK8 GLI3 HPGD THOC2 LOX RBPJ PIGN SMC1A DCLRE1C DNAL1 RIPK1 ZBTB16 CFH BTNL2 GLE1 SFTPC FOXF1 KLRC4 CCND1 CD79A EGFR TNNT2 DNAJC21 IL12A-AS1 IFT80 TSC1 CTSC USP9X MKKS SFTPA2 PIK3R1 CHRNG CITED2 TNFRSF13C ELN ADAMTS2 NR2F2 RSPO2 CFTR SCARB2 NKX2-5 SOX18 ADNP DNMT3B CCR6 TCIRG1 PAX6 STAT4 SETD2 DRC1 CFAP221 C11ORF95 TSC2 IFT172 TNFRSF13C FBN1 ARVCF RNF168 NFKBIA NFKB1 BAP1 NEPRO SLC52A3 PRSS1 SLC26A2 CLIP2 MKS1 GLI1 CRELD1 FGFR3 SFTPC FCN3 NCF2 SIM1 CD28 BAZ1B P4HTM DNAAF3 GAS2L2 CCDC103 UGP2 CEP120 GATA2 ETFB DICER1 IL6 ICOS CDCA7 CDKN2A SIX3 JAGN1 SFTPB DNASE1L3 PPP2R1B MBTPS2 CLCA4 STX1A KIAA0586 AGGF1 BNC1 POU6F2 MYH3 PHGDH STAT3 HRAS SFTPA2 DNAH11 LRRC6 SLC35C1 CDON IL17RC ASXL1 TRIM28 COL3A1 CD79B KDM6A UBB NHP2 NAA10 NCF4 CCDC22 MAGEL2 TBC1D24 PARN NRAS MTHFD1 MYH7 MIR140 BLNK LCK NFE2L2 CSF2RA MYSM1 DNAI1 MYT1L RAG2 CAV1 ZIC2 PRKG1 HACD1 MPLKIP TLL1 PIK3CA NSMCE3 IL10 PRSS2 SMPD1 IFT80 NLRC4 COL6A2 FLNB OFD1 PARN RB1 SCN9A MCTP2 FGF8 MAGEL2 FANCF CORO1A PIK3R1 PRKDC CR2 GBA EP300 TGFBR2 PIK3CD CASP8 CRLF1 PLVAP RAPSN NOTCH1 H19 PTCH1 NCF2 SH3KBP1 CR2 ERBB2 DNAAF1 AGRN RFXANK TDGF1 LGI4 GLE1 IL2RA SOX11 IL2RG MEFV ATM STAT3 ODAD3 SERPINF2 CYBC1 SNAP25 SMPD1 TRPS1 REN SHH ELP1 GLI2 CHRM3 IL2RG PNP GREB1L BACH2 SRSF2 NPHP3 CREBBP RIT1 BGN SH2D1A WIPF1 GATA6 DDR2 CTC1 FAS DYNC2I1 KITLG TBX1 TGIF1 RFX5 DCLRE1C CFAP410 GTF2IRD1 GPKOW FAS DONSON CCNQ ELN FADD SLC5A7 GDF1 ERCC2 TERC CBL ADAMTS3 TBX20 ODAD2 STAT4 SLC29A3 FOXE1 CBL FBN1 DVL3 MALT1 IFT43 DSG1 TECPR2 RTEL1 IPW NGLY1 CYBA PIEZO1 NHP2 EP300 TNFRSF11A DZIP1L CCND1 TLR4 CD81 FAM111B LRRC6 RTEL1 BCORL1 PORCN RAG1 SLC34A2 COPA DICER1 FRAS1 DNAI1 TERC MYPN NFKB1 ODAD2 ITCH TBCD ELANE NPM1 CXCR4 PWRN1 TNFRSF1A FOXP1 MYO9A DNAAF1 TGFB1 RFXAP C4A PML RAG1 TREX1 SMPD1 CREBBP SLC22A18 ELN TSC2 A2ML1 FSHR SETBP1 USB1 NADK2 MS4A1 CHAMP1 TERT NKX2-1 PTPRC SCN10A NEK8 CEP120 SMO CFI LMOD3 ELP1 NAA10 POLR2A NODAL GFI1 PLG RNF113A HSPG2 TBL2 EMG1 SFTPB STK11 SLC7A7 RSPH9 MRPS22 TERC CFAP298 WT1 CD19 RET JAK3 AICDA GLB1 GTF2H5 NIPAL4 PLOD1 MESP2 DYNC2I1 RNU4ATAC ZEB2 TANC2 ITGA3 NBN GNS FOXN1 STAT1 DISP1 B2M
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