SNPMiner Trials by Shray Alag


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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 Autism Spectrum Disorder Gastrointestinal Symptoms Drug: BB-12 with LGG (Higher Dose) Drug: Placebo Drug: BB-12 with LGG (Lower Dose)
MeSH: Disease Autistic Disorder Autism Spectrum Disorde 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 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
Interstitial pneumonitis
Genes 9
SFTPB PLCG2 SFTPC TINF2 TERT RAG1 FOXP3 STAT3 TERC
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
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
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
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