SNPMiner Trials (Home Page)
Report for Mutation S1009A
 Developed by Shray Alag, 2020.
SNP Clinical Trial Gene 
There are 2 clinical trials
Clinical Trials
      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.
    
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  Interstitial Lung Disease  Interstitial Pneumonia  Interstitial Fibrosis  Autoimmune Diseases  Diagnostic Test: Bronchoalveolar lavage and taking bronchial mucosa samples  Diagnostic Test: 6minute walk test  Diagnostic Test: Arterial blood gas  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
Autistic behavior 
Genes 519
GRN  GATAD2B  ALG13  ARID1B  STXBP1  TBC1D24  CUX2  SLC6A1  SCN9A  PARS2  PRODH  KDM5C  GABRB3  IQSEC2  OPHN1  MKRN3  SCN1A  CEP290  GABRA2  NDUFAF4  SCN1A  SDHD  DHCR7  NUBPL  NDUFB10  YWHAG  PROKR2  ADGRV1  MAOA  GRIN1  UBA5  KCNA1  GRIA3  USP9X  SCN3A  DNAJC6  NLGN3  SLC35A3  OTUD6B  GNAO1  MAN1B1  NDUFAF5  PGAP1  TUSC3  CAMTA1  GABRG2  CDKL5  NDUFV2  PPM1D  PIGV  MECP2  GPHN  NDUFA11  HECW2  ALDH18A1  HIRA  NUS1  PRSS12  MCTP2  CLIP2  NRXN1  PUF60  CNTNAP2  TRNF  UBE3A  NDUFS2  EP300  CHD1  PDE4D  EXT2  SH2B1  UCHL1  SHANK3  CNNM2  PAK3  PIGW  NDP  PIGP  IQSEC2  LHX1  TNIK  RSPRY1  NSUN2  PTEN  SCN2A  TMEM216  TBL2  ST3GAL5  PTCHD1  DPYD  RAB11B  LINS1  SNORD115-1  RAI1  STXBP1  AP2M1  ARVCF  AP3B2  RARS1  KDM5B  SEC24C  B3GALNT2  TMEM237  FRRS1L  AGTPBP1  PODXL  CLCN4  SLC9A7  SH2B1  MED23  ZC3H14  MBOAT7  JMJD1C  STAG2  CDKL5  ND5  TMLHE  EDC3  NAGA  COMT  TBR1  ZNF81  NONO  HERC2  FMN2  SKI  NAA10  DCPS  METTL23  SOX2  PTCHD1  CXORF56  GTF2I  MID2  SLC25A22  GJA5  MEIS2  TBX2  SNCA  DEPDC5  SIM1  TRNH  SLC35A3  NLGN3  PRDM16  FGFR1  GABRG2  RSRC1  NPAP1  GNAQ  EZR  NDUFAF3  TRNL1  PSEN1  NAA10  STS  ND2  THOC2  CC2D1A  KMT2A  NDUFS1  GABRD  AUTS2  GP1BB  PRKN  CACNA1B  BCOR  WASHC4  ND1  NDUFS4  RORA  VCP  NEUROD2  PINK1  PACS2  CHD2  NDUFA6  TRNS1  ALG13  CLP1  CARS2  TRAK1  GJA8  SYNGAP1  CHD2  MEIS2  NIPBL  ADNP  DPYD  SETD2  TMEM231  ARFGEF2  WWOX  MED12  NEXMIF  NDN  COX1  HESX1  RPS23  GABRB2  KCNA2  NHS  C12ORF4  ST3GAL3  NDUFS6  RERE  PCGF2  CTNNB1  MAPK10  CHD8  NEXMIF  TCF4  SPECC1L  NDUFB9  ALG13  PACS1  TRNW  COX3  RREB1  IL1RAPL1  NLGN4X  PCDH19  C9ORF72  TCF12  SIN3A  TIMMDC1  CNKSR2  NUS1  MYT1  ASH1L  FGF12  CTCF  COX2  ARX  LRRK2  TRAPPC9  FOXRED1  EEF1A2  CUX2  FRMPD4  TUBB3  POGZ  NTRK2  TMEM126B  TRIM8  MED13L  NDUFAF1  SETD5  FBXO31  TSPAN7  MEF2C  TBR1  CREBBP  NDUFAF2  RPS6KA3  CLTC  ANK3  AP1S2  SYN1  PRKAR1A  SLC6A8  CHD2  SYNJ1  DYRK1A  GRIK2  HCN1  SNORD116-1  IL1RAPL1  DHDDS  OTX2  NDUFA1  NDUFB3  SON  BAZ1B  EHMT1  SCN8A  BCKDK  ZNF41  BCORL1  KCNA2  TREM2  MED25  PSMD12  WFS1  STX1B  IREB2  ALDH5A1  ND4  RFC2  UBA5  RERE  MAPK8IP3  ATRX  CLCN4  GATM  DLG3  FOXG1  PIGQ  TRNQ  SIK1  TBX1  PIGL  GTF2IRD1  SIM1  CACNA2D2  NECAP1  MECP2  TLK2  CRBN  ARX  SMC3  CC2D2A  NDST1  SATB2  MECP2  AUTS2  CDH15  NTRK2  ALG11  SQSTM1  SCN1B  AGTR2  AIMP1  SNRPN  PWRN1  IFNG  SCN2A  KDM6B  NAGA  SETD5  SLC25A12  PIGP  PIGY  ADNP  ANKRD11  NDUFAF4  CYFIP2  GRIN2D  CACNA1C  MTOR  DNM1  COG5  MAN1B1  NEUROD2  PIGC  HNMT  POLA1  PGAP2  UPF3B  TMEM106B  ELN  CLCN4  MAPT  KCNT1  FLCN  PTEN  DYM  SMG9  TSC1  MICOS13  PARK7  SLC1A2  ZNF423  HNF1B  HDAC8  SRY  SLC45A1  TAF1  NFIB  NDUFV1  ND6  HTRA2  CRADD  KMT2C  ADSL  NALCN  ACADL  MECP2  ARNT2  ARHGEF6  USP27X  SHANK3  NDUFA13  SMAD4  FMR1  NDUFB11  UFD1  DEAF1  EGF  NDUFAF3  ATP1A3  TMEM138  TWNK  SNRPN  SNX14  TSC2  SLC13A5  AARS1  OTUD6B  SDHC  C12ORF4  CLIP1  IPW  PLXND1  GDI1  NDUFS7  VPS13C  CASK  AP3B2  FTSJ1  SLC9A6  EHMT1  SYP  TAF1  DDX3X  FMR1  SH2B1  PIGL  HDAC4  ARV1  EP300  NLGN4X  TRRAP  DMD  POLA1  TRNS2  HIVEP2  PIGO  RNF135  HNRNPH2  SLC25A1  ALMS1  TM4SF20  FTSJ1  STS  CHRNA7  NAA15  LIMK1  TCF4  GAMT  MEF2C  KMT5B  ST3GAL3  MED12  POMT1  HCN1  CACNA1A  NDUFS3  PDE4D  DHCR7  SMC1A  MECP2  MBOAT7  AKT1  TRIO  PAH  SCN8A  NDUFS8  ACOX1  PGAP3  CHMP2B  GRIA3  MAGEL2  WARS2  SLC35C1  MKRN3-AS1  RAD21  AFF2  ND1  IQSEC2  GABRD  TBX1  ZNF711  ASXL3  PWAR1  GABRA5  PPP3CA  HERC2  TECR  KLLN  SLC6A8  SEC23B  SZT2  PNKP  ZBTB20  PIK3CA  REV3L  FRMPD4  ZFPM2  ND3  ACTL6B  ST3GAL5  SEMA3E  WFS1  CNKSR2  FOXP2  SARS1  TCF20  CXORF56  CNTNAP2  CHD7  PPP2CA  SOX3  GFM1  SDHB  KCNAB2  KCNB1  ATP6V1A  TBC1D23  SYNGAP1  MSTO1  RAB39B  HCN1  LMAN2L  DNM1  ACSL4  TBX1  NDUFS4  HCFC1   hr>
Interstitial pneumonitis 
Genes 9
SFTPB  PLCG2  SFTPC  TINF2  TERT  RAG1  FOXP3  STAT3  TERC   hr>
Autoimmunity 
Genes 223
DDX41  PTPN2  LACC1  MS4A1  FASLG  LIG4  NFKB2  CASP10  STAT4  TCIRG1  POU2AF1  STOX1  TREX1  RFX5  WIPF1  RASGRP1  ITPR3  PRKCD  C1GALT1C1  TNFRSF13B  SERPING1  TBX1  PTPN22  STAT4  PEPD  IL2RB  POLG  HLA-DRB1  GFI1  NBN  ANKRD55  PTPN22  ANKRD55  TNFSF15  ICOS  RFXANK  TNFSF12  IFNGR1  C3  HLA-DQB1  FAS  ITCH  TNFAIP3  NRAS  RFXAP  TTC7A  IL2RB  IRF5  GPR35  SERPING1  STAT1  HLA-DPA1  CASP10  HLA-DRB1  SLC7A7  HIRA  TNFRSF13B  KDM6A  SERPING1  CD3G  DNASE1L3  ADA  KMT2D  SMPD1  CIITA  HLA-DPB1  STAT4  LCK  PRSS1  ICOS  ITK  IFIH1  CTLA4  PLCG2  HLA-DRB1  DNASE1  C1QC  CSF2RA  RAG1  CCR6  SPIB  ARVCF  RAG2  GALC  TNFRSF13C  ITCH  DNASE1L3  MST1  SEC24C  IL6  FCGR2A  IL2RG  PNP  CR2  ADA  JMJD1C  MASP2  IL12RB1  IL2RB  MMEL1  ZAP70  COMT  UFD1  NBN  STAT3  TNPO3  KRAS  CD19  TREX1  TBX2  RAG1  AIRE  HLA-DRB1  CORIN  PTPN22  LMNB2  C1QB  RAG1  TRAC  SRP54  NHEJ1  FOXP3  TPP2  LRBA  CCR6  HAVCR2  MMP2  FOXD3  CD247  TNFRSF13B  MIF  C1R  GP1BB  HNF1A  DCLRE1C  FAS  ICOS  CTLA4  CAV1  IL7R  IRF5  CSF2RB  TTC7A  FCGR2B  CAV1  SPP1  TNFRSF13C  CTLA4  FADD  CTLA4  IL7R  C8A  C1R  ARHGEF1  RNASEH2B  CD19  CR2  STAT1  FOXP3  CCN2  WAS  IL2RA  IL6  PTPN22  ADA2  PRKCD  CCN2  ACP5  C2  SLC12A3  CFTR  MTHFD1  C4A  ADA2  PGM3  CHD7  KIAA0319L  ADAR  RREB1  RNASEH2C  PTPN22  C1QA  TCF4  IL12A  RNASEH2A  CD247  BTK  FCGR2C  ADA2  FAS  C1QA  CD81  PAX4  RAG2  C1S  IRAK1  PRKCD  ELANE  TREX1  NFKB1  ZAP70  SEC23B  NLRP1  PTEN  TNFSF12  FLT1  ADA  FASLG  PIK3R1  STIM1  IRF5  CLCNKB  IL2RA  CTRC  PRTN3  IL2RA  TBX1  RMRP  SPINK1  SAMHD1  PTPN2  NFKB2  DCLRE1C   hr>
Abnormal lung morphology 
Genes 1201
GPC3  ARID1B  NFKBIA  POLR3H  TNFRSF11A  GLI3  CLPB  BIRC3  IL17RA  ZFPM2  WDR34  CTSC  BTK  FCGR3A  PORCN  STRA6  PIGL  FRAS1  PHGDH  SLC18A3  STAT3  TERT  CFTR  TAF1  GLI1  CFTR  PRKCD  DNAAF4  EGFR  TGFB1  LEPR  SLC18A3  ZMPSTE24  COL2A1  DICER1  PEPD  DLL3  NGLY1  TERC  WAS  MARS1  TTC21B  DNAAF2  SELENON  IRAK4  SFTPA2  ARMC4  FBN1  GBA  RSPH1  DYNC2LI1  SLC2A10  ALOX12B  DNAL1  TINF2  UNG  DHCR24  ADAMTS2  IL2RB  NKX2-1  HOXD13  SFTPB  KIAA0586  SPINK5  HIRA  GBA  GAS8  CEP57  CFAP298  WDR60  GNPTAB  KRAS  LEP  MCTP2  KAT6B  PUF60  CD3G  FCN3  CYBA  TBL1XR1  DOK7  CHRND  SMN1  EP300  BUB1B  DOCK8  EFEMP2  ESS2  SMPD1  SCNN1G  CSF2RA  RBPJ  BCOR  HLA-DPB1  KAT6B  DNAAF1  ICOS  KIF11  MEFV  SPAG1  CCDC40  TRAIP  CARD11  RSPH4A  IL10  LZTR1  CHRNG  PTPRC  NOTCH3  SNORD115-1  NOTCH3  ARVCF  BACH2  RLIM  RAG2  ITCH  DGCR6  MST1  FCGR2A  TBX5  CD28  IDUA  SLC25A22  STN1  MGP  CD8A  SULT2B1  CHST14  JMJD1C  TPM2  CCDC103  HELLS  FCGR2A  MRPS22  SLC5A7  CEP55  SDR9C7  HERC2  GPC6  TGFBR1  STAT3  TTC37  CD247  MESP2  GTF2I  CDC45  BLNK  IGH  CCNQ  KIAA0586  BLNK  FOXP1  MAT2A  SMARCA4  SGCG  FAM20C  PRKN  MPLKIP  NPAP1  FOXE3  NCF1  SMAD4  CYP4F22  TPP2  RNU4ATAC  EIF2AK4  STAT6  NGLY1  LRBA  DNMT3B  CCR6  GATA6  P4HTM  TRPS1  COL13A1  MIF  C1R  DNAAF5  SFTPB  CD81  CARMIL2  GATA6  CCNQ  TAP1  FGFR3  SFTPC  MESP2  SMAD4  SNX10  DOCK8  SHROOM4  WDR35  GRIP1  ETFB  MARS1  FLNB  LETM1  TERT  APOE  SMPD1  CSF2RB  CTLA4  SCN10A  GREB1L  ITGA8  NPM1  LGI4  MYH3  CR2  ARID1B  SERPINF2  NHLRC2  GPC4  COL1A1  DCLRE1C  NDN  SGSH  LRRC56  LRRC6  HPS4  BTNL2  CCDC40  ALG9  TMEM94  BTK  DGCR8  CCBE1  EWSR1  WDR60  PGM3  COG4  PSAP  HES7  SCN9A  CFB  KIAA0319L  LMNA  HLA-DRB1  RBM10  EFEMP2  MRAS  SMARCC2  AGGF1  COL6A2  POLR3A  GTF2E2  SMAD3  ALDH18A1  WRAP53  INVS  ITGA3  CFI  HLA-B  FBLN5  DNAI2  MINPP1  FAS  SLC26A2  ZAP70  DCTN4  NR5A1  CD79B  NEK9  FREM2  ARHGAP31  KIF1A  AFF4  BTNL2  CYP2A6  DONSON  WDR34  GLA  TIRAP  STAT3  CCDC114  ACVRL1  PTEN  DLL4  ZBTB16  GATA6  HYLS1  PIK3R1  HACD1  DPM2  KITLG  RMRP  DNAH11  STAT5B  ERF  EPM2A  HYDIN  G6PC3  ATM  COL5A2  SNORD116-1  DNAH11  NFKB2  EPG5  BCL10  CCR1  SON  ERCC2  AK2  RASA2  STRA6  SLC35A1  MS4A1  DNAAF3  REN  MYH3  CCDC151  LIG4  MKKS  ATP11A  FBLN5  ATP6V0A2  BMPR2  SLC22A18  SOS1  RFC2  PPP2R1B  TGFBR2  IFT81  WIPF1  GATA4  LFNG  RAF1  NOP10  RFXANK  RSPH4A  HLA-B  SLC52A3  NHP2  CXCR4  GSN  PCNT  TNFRSF13B  LEP  TERC  CORO1A  CCDC65  PTPN22  CD55  TGFBR1  IL17F  ALG12  STAT4  COL11A2  MEFV  NHLRC1  ABCA12  LTBP3  SCNN1B  DVL3  HLA-DRB1  RPL10  NSD2  RARB  TECPR2  CCBE1  EPG5  VANGL1  FLNA  CCDC39  RFXANK  BMPR2  CARD11  SFTPC  CFH  OFD1  ITCH  MYH11  JAGN1  PRKAR1A  LRRC6  NAA10  ITPR1  CFTR  GLE1  PLP1  GPR35  INTU  STAT1  NR2F2  CYBC1  ABL1  SLC35A1  HLA-DPA1  LBR  PSMC3IP  BRAF  CASP10  RAG2  TERT  CACNA1C  HLA-DRB1  PHGDH  CHRNA1  TRIP13  MYD88  IDUA  B3GLCT  NOTCH2  TAPT1  KIAA0556  AICDA  CLCN7  PANK2  PAX6  MKS1  RANBP2  FARSB  FGF20  FLNA  ELN  CIITA  RSPH3  ADA  DNAAF2  PLVAP  BCL2  EMG1  KMT2D  ZNF341  TNFRSF1A  IL7R  LEPR  NAGLU  RAG2  MESP2  CD46  WT1  ELN  SCNN1A  PERP  HLA-DRB1  DIS3L2  DLL3  MITF  CSF2RA  LAMTOR2  BRAF  RAG1  BLM  CCR6  NSMCE3  UMPS  INHBA  ELN  IL23R  RFX5  GRHL3  IL6  LIPN  WT1  TTC25  FGFR3  ADA  LMNA  TTC25  ACTA1  TP53  ZAP70  LOX  UFD1  ALPL  IGHM  SCNN1G  STAT3  COL3A1  RAG2  NBN  FLCN  LIFR  TGM1  PIK3CA  CACNA1B  ATP5F1A  GPKOW  ARMC4  TREX1  NCF1  SNAP25  SERPINH1  IPW  FADD  CXCR4  TSC2  CD3E  BUB1  MCM4  CFAP221  ERAP1  CTC1  DNAI2  KCNJ6  COPA  NOTCH1  SPINK1  CCDC114  DOCK6  PLG  ABCA3  SLC25A24  SOX10  LRRC8A  FAS  ICOS  POLA1  VPS33A  PRKAR1A  FCGR2B  CHAT  PAX3  CCNO  ALMS1  NCF2  ITGA8  GLB1  CHRM3  TNFRSF13C  ERCC3  EVC  FADD  CTLA4  CD79A  BMP15  H19  RSPH9  NEK8  CFTR  NCF2  FLNB  FASLG  MAP3K8  RIT1  MECP2  TERC  KLHL40  CCND1  HLA-DRB1  IKBKB  DNAAF3  TP53  MAGEL2  CCN2  ACP5  CHAMP1  HYDIN  TINF2  EOGT  MTHFD1  SMARCB1  ABCA3  RAG1  PIK3R1  TERT  PWAR1  SCARB2  OCRL  MS4A1  DNAAF6  PIK3R1  CCDC39  UBE2A  NKX2-1  TCF4  ACTA2  ARID2  ZBTB24  UBAC2  FRAS1  TINF2  ETFDH  WDR19  GNPTAB  C4A  NFIX  RAG2  PTEN  SCNN1A  RFXAP  USP9X  NFKB1  NIPAL4  WRN  IL2RG  POLE  MEFV  KLHL41  PKHD1  AGT  TGFBR2  INPPL1  GBA  MYBPC3  GUSB  CITED2  CTRC  CSPP1  RHOH  MCIDAS  DCLRE1C  TIMM8A  DNAH9  PEX1  SIK1  GTF2H5  IER3IP1  GUSB  EPHB4  COL2A1  TBC1D24  SPAG1  MSN  GAS2L2  NIPBL  NFKB1  CRELD1  BRCA2  IGLL1  RNF168  ZBTB24  RFX5  TERT  MKRN3  RASGRP1  PLEC  NOP10  BICC1  NSDHL  MUSK  ENG  MBTPS2  DHCR7  IRAK4  COLQ  TCTN3  MYO9A  TBX1  DRC1  CC2D2A  IRF2BP2  WNT4  HSPG2  TAP2  KEAP1  LAMA2  DICER1  WT1  CFAP300  RIPK4  DNAI1  TBCD  RRAS2  IL2RG  RELA  SOX4  MFAP5  IFNGR1  NOD2  GLI3  TRPV3  ZMYND10  NRAS  RFXAP  FOXF1  DGCR2  RSPH9  PLOD1  SLC11A1  SLC7A7  SCNN1B  PKD1L1  TRIM28  SLCO2A1  CLCA4  MLXIPL  CLIP2  BMP2  CCDC65  DHCR24  POU6F2  SFTPA1  FIP1L1  SERPINA1  TRIP4  USB1  UBB  FLCN  LAMTOR2  TBC1D24  NECTIN1  SAMD9  CCNO  AARS2  LMOD3  GLDN  CIITA  MUC5B  LCK  NPM1  MMP21  IFT172  COL5A1  TBL2  ASAH1  ALMS1  DNASE1  RUNX2  DNAAF4  SH3KBP1  NPHP3  CSPP1  DNAI1  IL12A-AS1  NABP1  TSC1  TNFRSF13C  SEC24C  TGFB2  IDUA  IL2RG  CCND1  DNAAF6  MYH7  GALNS  NUMA1  FUCA1  RIPPLY2  B2M  SFTPC  FLI1  CD3E  ELANE  ASCC1  TCF3  SLC29A3  RELB  ERCC6  ACTA1  FGFR1  LAMB2  COMT  SPEF2  AGA  ELN  PYROXD1  CLEC7A  NAA10  KRAS  GPC3  SMPD1  SOX11  REST  DDR2  BCL11B  SLC7A7  NUP88  FLCN  EDARADD  SPECC1L  FAM111B  MYSM1  ARID1A  GNS  CD79B  LYST  PDGFRA  SRP54  PIEZO2  BGN  IL1RN  GATA4  TRIP11  GBA  SLC26A2  NUP107  NAA10  THOC2  SELENON  RARB  STX1A  RTEL1  TNFRSF13B  GP1BB  SKIV2L  VPS13A  BCOR  BCOR  INPPL1  CAV1  AP3B1  EDNRB  NOTCH2  GATA2  IRF5  CSF2RB  TTC7A  SDCCAG8  FANCB  JAK3  TBCE  RTEL1  OSTM1  VHL  CCDC151  NEK1  IL21  SPP1  DNAJB13  JAK3  RNF125  INSR  STK36  IL7R  POLA1  CD19  FOXC2  CD3D  RSPH3  TRIM28  FBLN5  SNAI2  TAPBP  RAPSN  CYBB  CCN2  DRC1  VAMP1  ADNP  WT1  PTPN22  IFT80  PTPN11  ARSB  SP110  ZEB2  SLC25A1  ASAH1  PCGF2  SOS2  COQ7  COL6A1  GATA6  SLC46A1  EVC2  RRAS  IKBKB  LPIN2  TGFB2  GLE1  GAS2L2  RREB1  TGFB1  PEPD  RNU4ATAC  STK11  MYL2  SCN11A  C1QA  ERBB2  TSC2  KLRC4  PSAT1  MYT1  DICER1  SCNN1B  BTK  CCDC22  DSP  CFTR  RYR1  ADAMTS3  CD81  WDR60  PLG  SYT2  USP9X  DKC1  GLI3  LMNA  PRPS1  ELANE  C11ORF95  WNT3  ALB  RSPO2  IFT80  NME8  ATP6V1E1  TNFRSF13C  RPS15A  MAP3K20  DYNC2H1  TNFSF12  KAT6B  ADA  SMARCE1  FASLG  DSG1  ELN  RPGR  IFT43  CREBBP  PRTN3  COL3A1  LTBP4  NFE2L2  FLNA  BMPER  RIT1  RCBTB1  GAS8  FBN1  DPF2  BAZ1B  CASP8  EHMT1  KRAS  LACC1  ARHGAP31  PRSS2  CRELD1  NFKB2  WDR35  ZMYND10  IL17RA  TARS1  NXN  FANCB  COL6A3  TCIRG1  WASHC5  CHRNG  ETFA  GDF1  DPP9  NME8  IL17RC  AGRN  CHRNG  CDT1  RPGR  TBX1  CBL  NADK2  GTF2IRD1  PML  IRF1  ABCA12  LAT  IFT140  PTPN11  MANBA  PARN  GFI1  NBN  RARA  RNF113A  HELLPAR  PMM2  SPIDR  SCNN1A  ICOS  TNFSF12  PWRN1  MGP  USB1  TYK2  IL21R  FMO3  AGA  IRF5  FSHR  MYRF  SLC34A2  RIPK1  DNAAF1  HPGD  ORC6  HPS6  NPHP3  GMNN  RB1  RYR1  CFAP298  JAG1  TNFRSF13B  KDM6A  TSC1  SAMD9L  GDF1  ROR2  WNT4  ACE  TPM3  WDR34  FBN1  GBA  CFI  BUB3  COG4  PPP1CB  TSC2  PRKG1  MYLK  MUSK  IGHM  TSC1  TRAF3IP2  RAF1  CEP120  PGM3  IL12A  TNFRSF1B  DNASE1L3  EGFR  ELP1  ELN  FLCN  PNP  DNAH5  HGSNAT  SETBP1  ECM1  PIGN  CR2  MASP2  RTEL1  SFTPA2  AP3D1  MBTPS2  RAC1  CRTAP  PIGN  KAT6B  IFIH1  DNAAF5  BRAF  ADGRG6  FAT4  SNRPN  DYNC2H1  SOX18  CD19  ACADVL  TNFSF11  CYBB  PTPN22  PEX13  TRIP13  TK2  AKT1  SLC2A10  GAA  PRKDC  ALOXE3  CR2  CYBA  FUZ  RAG1  PTH1R  MUC5B  CDCA7  LMNA  TERC  RAG1  CD19  CD79A  DNAH5  TFRC  PIEZO1  FOXP3  IRF8  NEB  LYST  EXOSC9  A2ML1  CD3D  CRKL  RYR1  NKX2-5  BAP1  TGFB3  PDGFRB  DCLRE1C  PARN  CTLA4  CEP120  PRKAG2  DCLRE1C  SLC26A2  TGFB1  CTLA4  XIAP  RSPO2  IL7R  TRPV4  BCL6  IKBKG  FOXJ1  NELFA  ZMPSTE24  IL2RG  CASP8  TMEM260  RAG1  IGLL1  CFAP410  CAV1  HPS1  SERPINA1  FOXE1  UNC119  RSPH1  LIMK1  MYOD1  DYNC2LI1  RAG1  SLC26A2  PARN  TRIP4  STAT1  DNAH1  FAS  WDR19  DHCR7  WAS  CCDC103  IL2RA  TLR4  SLC12A6  ACTA1  ATM  RET  LRRC56  RAB3GAP2  PIGN  FGF20  STAT4  IKZF1  PRKCD  SLC35C1  HFE  MKRN3-AS1  SH2D1A  HABP2  NAB2  NCF4  XIAP  MAPK1  FSHR  CHD7  IGH  AGTR1  WNT3  BLM  HLA-DRB1  SMARCD2  NKX2-5  TBX6  STING1  ELP1  OFD1  COL13A1  NHP2  RAB27A  MYO5A  DKC1  FAM13A  COL11A2  TRIP11  HRAS  IRAK1  PRSS1  GRIP1  PLCG2  NCF4  ZNHIT3  MALT1  SCNN1G  BCR  NRAS  TCIRG1  MEFV  SOX18  TBC1D23  CEP57  SERPINF2  DNAJB13  PIK3CD  FAT4  TBX1  ITGA7  RNF168  SMN1  TERT  DNMT3B  SMAD3  NFKB2   hr>
Autism 
Genes 201
SNORD116-1  DHDDS  OTX2  BAZ1B  EHMT1  SCN8A  BCKDK  KCNA2  PARS2  KDM5C  ALDH5A1  ND4  RFC2  IQSEC2  OPHN1  RERE  ATRX  MKRN3  GABRA2  GATM  SDHD  DHCR7  YWHAG  PROKR2  MAOA  TRNQ  TBX1  PIGL  GTF2IRD1  SIM1  UBA5  NECAP1  GRIA3  SMC3  SCN3A  SATB2  NLGN3  SNRPN  PWRN1  IFNG  GABRG2  NAGA  SETD5  MECP2  ANKRD11  CYFIP2  GRIN2D  CACNA1C  HIRA  DNM1  MAN1B1  CLIP2  NRXN1  TRNF  UBE3A  EP300  ELN  PDE4D  FLCN  SHANK3  PTEN  DYM  NDP  LHX1  TSC1  PTEN  SLC1A2  TBL2  DPYD  HNF1B  SNORD115-1  RAI1  STXBP1  HDAC8  ARVCF  SEC24C  NFIB  ND6  ADSL  SH2B1  JMJD1C  MECP2  ARNT2  ND5  TMLHE  SMAD4  NAGA  FMR1  COMT  UFD1  TBR1  NONO  HERC2  SKI  SOX2  SNRPN  PTCHD1  TSC2  GTF2I  SLC13A5  AARS1  GJA5  MEIS2  SDHC  TRNH  NLGN3  IPW  PRDM16  FGFR1  PLXND1  AP3B2  FTSJ1  NPAP1  SLC9A6  EHMT1  TRNL1  FMR1  HDAC4  ARV1  STS  KMT2A  NLGN4X  GABRD  AUTS2  GP1BB  CACNA1B  TRNS2  ALMS1  STS  CHRNA7  TRNS1  ALG13  LIMK1  GAMT  TRAK1  GJA8  MED12  SYNGAP1  HCN1  CACNA1A  PDE4D  DHCR7  NIPBL  SMC1A  AKT1  PAH  WWOX  SCN8A  NDN  COX1  HESX1  GABRB2  MAGEL2  KCNA2  NHS  SLC35C1  MKRN3-AS1  RAD21  CHD8  ND1  TBX1  PWAR1  GABRA5  PPP3CA  TRNW  COX3  RREB1  IL1RAPL1  NLGN4X  TCF12  KLLN  SIN3A  NUS1  SEC23B  SZT2  MYT1  FGF12  ZBTB20  PIK3CA  COX2  REV3L  EEF1A2  ACTL6B  SEMA3E  WFS1  CNKSR2  NTRK2  CNTNAP2  CHD7  SOX3  MED13L  SDHB  KCNAB2  KCNB1  ATP6V1A  CREBBP  CLTC  TBX1  PRKAR1A  SYNJ1  DYRK1A   hr>
Pneumonia 
Genes 208
TIMM8A  DNAH9  GAS8  DNAH11  TNFRSF11A  TBC1D24  SPAG1  MS4A1  GAS2L2  CCDC151  NIPBL  BTK  LIG4  NFKB2  TCIRG1  IGLL1  RNF168  STAT3  TAF1  RSPH4A  CFTR  NME8  DNAAF4  LEP  CCDC65  NADK2  CD55  COL11A2  NHLRC1  PEPD  CFAP300  LTBP3  WAS  DNAI1  TBCD  IL2RG  GFI1  NBN  RSPH1  CCDC39  PMM2  ICOS  TNFSF12  IFNGR1  CARD11  SFTPC  DNAL1  OFD1  ZMYND10  IL21R  FMO3  SLC35A1  PLOD1  ORC6  RAG2  CACNA1C  GAS8  RYR1  CFAP298  GNPTAB  TNFRSF13B  KDM6A  PANK2  RANBP2  CYBA  USB1  UBB  DOCK8  ADA  DNAAF2  KMT2D  SAMD9  MUC5B  IL7R  DNAAF1  ICOS  RAG2  CARD11  PTPRC  ALMS1  NOTCH3  NSMCE3  DNAI1  TNFRSF13C  GRHL3  EGFR  IL2RG  DNAAF6  PNP  DNAH5  SETBP1  CR2  CD3E  ADA  MASP2  SFTPA2  ACTA1  RAC1  TTC25  FCGR2A  ZAP70  SPEF2  IGHM  DNAAF5  NBN  CD247  DDR2  CD19  ACADVL  KIAA0586  TK2  BLNK  ARMC4  SGCG  RAG1  CXCR4  NCF1  SRP54  FOXP3  IRF8  CFAP221  RNU4ATAC  KCNJ6  LRBA  CD3D  P4HTM  SELENON  CCDC114  TNFRSF13B  PLG  DCLRE1C  SLC25A24  DCLRE1C  ICOS  IL7R  FOXJ1  JAK3  IL2RG  CASP8  RAG1  OSTM1  CFAP410  CCNO  NCF2  UNC119  TNFRSF13C  JAK3  RNF125  STK36  POLA1  CD19  CR2  DNAH1  RSPH3  RSPH9  CYBB  DRC1  DCLRE1C  CCDC103  DNAAF3  LRRC56  PIGN  LRRC6  SP110  PRKCD  ACP5  CCDC40  SLC35C1  BTK  MTHFD1  PGM3  RAG1  TERT  CHD7  CFB  TGFB1  RNU4ATAC  SMARCD2  NKX2-1  OFD1  ZBTB24  BTK  DNAI2  WDR19  ZAP70  CD79B  CD81  COL11A2  NFIX  RAG2  ELANE  AFF4  NFKB1  IL2RG  TNFRSF13C  TNFSF12  CCDC114  ADA  GBA  DNAJB13  RPGR  CSPP1  RMRP  EPM2A  DNMT3B  NFKB2  MCIDAS  HYDIN   hr>