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D012640: Seizures

Developed by Shray Alag, The Harker School
Sections: Correlations, Clinical Trials, and HPO

Correlations computed by analyzing all clinical trials.

Navigate: Clinical Trials and HPO


Correlated Drug Terms (6)


Name (Synonyms) Correlation
drug626 COVID-19 swap test PCR Wiki 0.71
drug683 Cannabis, Medical Wiki 0.71
drug805 Collection of odour samples Wiki 0.71
Name (Synonyms) Correlation
drug376 BNT162b1 Wiki 0.41
drug377 BNT162b2 Wiki 0.35
drug2448 Placebo Wiki 0.03

Correlated MeSH Terms (31)


Name (Synonyms) Correlation
D000070627 Chronic Traumatic Encephalopathy NIH 0.71
D003072 Cognition Disorders NIH 0.71
D005879 Tourette Syndrome NIH 0.71
Name (Synonyms) Correlation
D003424 Crohn Disease NIH 0.71
D004827 Epilepsy NIH 0.71
D005356 Fibromyalgia NIH 0.50
D000070642 Brain Injuries, Traumatic NIH 0.50
D000690 Amyotrophic Lateral Sclerosis NIH 0.50
D016472 Motor Neuron Disease NIH 0.50
D006526 Hepatitis C NIH 0.50
D001714 Bipolar Disorder NIH 0.50
D000755 Anemia, Sickle Cell NIH 0.35
D009422 Nervous System Diseases NIH 0.35
D001930 Brain Injuries, NIH 0.32
D001927 Brain Diseases NIH 0.32
D010300 Parkinsonian NIH 0.29
D009103 Multiple Sclerosis NIH 0.27
D015212 Inflammatory Bowel Diseases NIH 0.27
D012598 Scoliosi NIH 0.25
D059350 Chronic Pain NIH 0.24
D060825 Cognitive Dysfunction NIH 0.24
D020521 Stroke NIH 0.19
D004194 Disease NIH 0.14
D040921 Stress Disorders, Traumatic NIH 0.14
D013313 Stress Disorders, Post-Traumatic NIH 0.13
D014947 Wounds and Injuries NIH 0.13
D013577 Syndrome NIH 0.07
D003141 Communicable Diseases NIH 0.05
D007239 Infection NIH 0.03
D045169 Severe Acute Respiratory Syndrome NIH 0.03
D018352 Coronavirus Infections NIH 0.02

Correlated HPO Terms (10)


Name (Synonyms) Correlation
HP:0001250 Seizure HPO 0.82
HP:0100280 Crohn's disease HPO 0.71
HP:0006802 Abnormal anterior horn cell morphology HPO 0.50
Name (Synonyms) Correlation
HP:0100754 Mania HPO 0.50
HP:0007354 Amyotrophic lateral sclerosis HPO 0.50
HP:0001298 Encephalopathy HPO 0.32
HP:0002037 Inflammation of the large intestine HPO 0.27
HP:0001268 Mental deterioration HPO 0.24
HP:0012532 Chronic pain HPO 0.24
HP:0001297 Stroke HPO 0.19

Clinical Trials

Navigate: Correlations   HPO

There are 2 clinical trials


1 Outcomes Mandate National Integration With Cannabis as Medicine for Prevention and Treatment of COVID-19

This will be a multistate, multicenter clinical study to determine the efficacy and safety of medical cannabis for a wide variety of chronic medical conditions.

NCT03944447
Conditions
  1. Chronic Pain
  2. Chronic Pain Syndrome
  3. Chronic Pain Due to Injury
  4. Chronic Pain Due to Trauma
  5. Fibromyalgia
  6. Seizures
  7. Hepatitis C
  8. Cancer
  9. Crohn Disease
  10. HIV/AIDS
  11. Multiple Sclerosis
  12. Traumatic Brain Injury
  13. Sickle Cell Disease
  14. Post Traumatic Stress Disorder
  15. Tourette Syndrome
  16. Ulcerative Colitis
  17. Glaucoma
  18. Epilepsy
  19. Inflammatory Bowel Diseases
  20. Parkinson Disease
  21. Amyotrophic Lateral Sclerosis
  22. Chronic Traumatic Encephalopathy
  23. Anxiety
  24. Depression
  25. Insomnia
  26. Autism
  27. Opioid-use Disorder
  28. Bipolar Disorder
  29. Covid19
  30. SARS-CoV Infection
  31. COVID-19
  32. Corona Virus Infection
  33. Coronavirus
Interventions
  1. Drug: Cannabis, Medical
MeSH:Infection Communicable Diseases Hepatitis C Coronavirus Infections Severe Acute Respiratory Syndrome Fibromyalgia Crohn Disease Inflammatory Bowel Diseases Parkin Parkinson Disease Multiple Sclerosis Brain Injuries Brain Injuries, Traumatic Seizures Motor Neuron Disease Amyotrophic Lateral Sclerosis Brain Diseases Tourette Syndrome Chronic Traumatic Encephalopathy Anemia, Sickle Cell Disease Syndrome Sclerosis Chronic Pain Wounds and Injuries Stress Disorders, Traumatic Bipolar Disorder Stress Disorders, Post-Traumatic
HPO:Abnormal anterior horn cell morphology Amyotrophic lateral sclerosis Bilateral tonic-clonic seizure Bipolar affective disorder Chronic pain Crohn's disease Encephalopathy Focal-onset seizure Generalized-onset seizure Inflammation of the large intestine Mania Seizure

Primary Outcomes

Description: Covid-19 infection rates in cannabis users will be compared to rates in the general population. Our online questionnaire responses will compare infection rates of cannabis users in this study against the Johns Hopkins University Coronavirus Research Center data (https://coronavirus.jhu.edu).

Measure: Prevention of COVID-19

Time: Five years

Description: Severity of persistent symptoms in cannabis users testing positive for active infection and/or antibodies will also be compared to the general population. Patients will answer the widely used FLU-PRO questionnaire, which asks about flu symptoms and severity, to capture diagnoses, symptoms, and medical interventions related to COVID-19. The data from cannabis user patients will be compared with national and international data surveys, such as the Covid Symptom Study (https://covid.joinzoe.com/us-2).

Measure: Treatment of COVID-19

Time: Five years

Description: The primary objective is to assess the efficacy and safety of medical cannabis as medicine for treatment of chronic pain and other chronic debilitating diseases. Pain will be measured by Brief Pain Inventory (BPI) numeric scale. Change from baseline in BPI will be assessed at 3-month intervals. For prospective associations between cannabis use and outcomes, use of a lagged mixed-effects models will examine temporal associations between cannabis use and pain severity, opioid sparing, and patient satisfaction. Data will be analyzed from baseline and the annual follow-up waves.

Measure: Treatment of Symptoms

Time: Five years

Secondary Outcomes

Description: Secondary objectives include evaluating increases or decreases in quality of life, and increases or decreases in concomitant opioid use. Satisfaction with treatment will be measured by a Visual Analog Score (VAS). Change From baseline in Satisfaction with treatment measured by (VAS) be assessed at 3-month intervals.

Measure: Cannabis Impact on Quality of Life

Time: Five years

Description: Tertiary objectives will examine preferences for routes of administration, and preferences for THC / CBD ratios. Categorical factors will be summarized using frequencies and percentages, while continuous measure distributions will be described using means, standard deviations, and quartiles of interest.

Measure: Cannabis Route and Dosing

Time: Five years

Description: Incidence of Treatment-Related Adverse Events will be measured by Physician Global Assessment (PGA) numeric scale. Number of participants with Treatment-Related Adverse Events will be assessed by CTCAE v4.0.

Measure: Monitoring Adverse Events

Time: Five years
2 COVID-19 Prevalence, Morbidity and Long Term Cognitive Deficits in Consecutive Patients Presenting With Acute Neurological Symptoms

The purpose is to investigate the COVID-19 prevalence, associated morbidity and long-term cognitive deficits in consecutive patients presenting with acute neurological symptoms

NCT04377425
Conditions
  1. Neurological Diseases or Conditions
  2. Stroke, Acute
  3. Seizure Disorder
Interventions
  1. Diagnostic Test: COVID-19 swap test PCR
MeSH:Stroke Seizures Nervous System Diseases Epilepsy Cognition Disorders Cognitive Dysfunction
HPO:Bilateral tonic-clonic seizure Cognitive impairment Focal sensory seizure Focal-onset seizure Generalized-onset seizure Mental deterioration Seizure Stroke

Primary Outcomes

Description: To investigate the prevalence of COVID-19 infections in consecutive patients with acute onset of neurological symptoms (with or without prior neurological disease)

Measure: Prevalence of COVID-19 infection in consecutive patients with neurological symptoms

Time: 6 months

Secondary Outcomes

Description: Three months cognitive function (Montreal Cognitive Assessment) of COVID-19 positive patients compared to COVID-19 negative patients

Measure: Three months cognitive function of COVID-19 positive patients

Time: 3 months

Description: Characterization of the neurological symptoms in neurological COVID-19 positive patients (exploratory endpoint)

Measure: Clinical presentation of neurological symptoms in COVID-19 positive patients

Time: 6 months

Description: Prevalence of pre-symptomatic and asymptomatic COVID-19pos in acutely admitted patients with a primary complaint of neurological symptoms.

Measure: Prevalence of pre- and asymptomatic COVID-19 positive patients in acutely admitted neurological patients

Time: 6 months

Description: Prevalence of anosmia in COVID-19pos patients compared to COVID-19neg patients

Measure: Anosmia in COVID-19 positive patients

Time: 6 months

Description: Neuro-specific and inflammatory blood- and cerebrospinal fluid markers in COVID-19 positive patients compared to COVID-19 negative matched controls

Measure: Exploratory analysis on neuro-specific and inflammatory blood and cerebrospinal fluid markers of COVID-19 infection

Time: 24 months

Description: Functional and immunologic plasma assays will be employed to analyze proteins and pathways in coagulation and fibrinolysis

Measure: Exploratory analysis of the coagulation profile of COVID-19 positive patients compared to COVID-19neg patients

Time: 24 months

HPO Nodes


HP:0001250: Seizure
Genes 2968
MBD5 SH2B1 SMARCB1 PDHX TRNK PRICKLE1 ALDH18A1 MAGEL2 GLRA1 B3GLCT TREX1 GRIA2 TRAPPC11 TRNC DOLK POMGNT1 PLK4 CEP164 PHF21A BRAF EFTUD2 CNKSR2 PEX3 ATP6V1A PSAT1 ST3GAL3 APP ARVCF SIX3 PPP2R1A ND1 WDR11 EFHC1 TRPM6 ANTXR1 GABRA1 ARHGEF9 CNTN2 EDN3 RREB1 PTF1A NOS1AP CDK5 CAV3 OCA2 TUBB4A LETM1 FBXO11 ATXN10 KCNH2 DEGS1 MAFB ELMO2 ERMARD AP4B1 PEX11B PEX6 DNM1L SPATA5 FKTN EFTUD2 KCNH1 RPS6KA3 AARS1 LRAT HRAS POLG TSEN54 AIMP2 BUB1B DMD ERCC5 FLRT3 FOXH1 PEX11B TBC1D20 TPK1 ANKRD11 TARS1 PEX1 CEP290 KCNQ2 GLRX5 SPATA5 BRSK2 VPS13B TBC1D24 BRAF ADNP PNPO RAB18 SEC24C CDK8 TUBB2B TYROBP GABBR2 EXT2 PIK3CA HCN1 TBC1D20 TWNK GCH1 PGAP2 MBOAT7 PEX13 PIGA ATP5F1A TSC2 TSC1 WAC GNS FAR1 VPS53 HMGCS2 GRIN2B AKT2 THSD1 ADD3 GPT2 CRB2 CUX1 ATP6V0A2 MDH2 PRMT7 PC ZIC2 THPO SLC12A6 PIGK GRM1 ECE1 STAG1 GJA1 DNAJC6 ADGRG1 KMT2A PIGT VPS13B PHGDH PRKCD SUFU POMT2 PTCH1 KCNE1 SPATA7 TRRAP PLAGL1 AHI1 KMT2E DALRD3 JRK SCN1A GK EEF1A2 SCN8A RELN IRF2BPL VAMP2 RRM2B MTO1 GLUD1 INTS1 SCN1B COL3A1 PHKG2 NDUFAF6 ATP6V1E1 GRN PEX19 ASPM SMC3 PEX26 PPP1R15B PEX12 ACVRL1 AMACR STX11 HNF4A SDHA ADA2 CNOT1 MED25 ACTL6B SNORD115-1 PRDM8 MADD ERCC8 PPP2R5D SOX3 NDUFB11 CPLX1 MAN1B1 KCNB1 EMC1 MKRN3-AS1 ALDOB GRIN2B SEMA6B PSAP FA2H PEX16 ABCA7 FAN1 SLC25A10 COX10 SLC2A1 HMGCL NTRK2 XK TBC1D24 APC2 NGLY1 GLI2 MAF ANK3 F8 PCSK1 MTOR SMG9 SDHA C11ORF95 MVK KIAA0753 ECM1 PNKP SCO2 MKS1 PUF60 CLCN4 CCBE1 ELP1 AGA TAF1 BTD DHX37 PWRN1 WDR11 POU3F3 GDNF PIK3CA PPP3CA ND4 INTS8 PNKP CPT1A CHRNA7 PEX1 KAT6A LAMA2 FLI1 NRAS DLL4 CACNA1E SCN2A MBTPS2 MCPH1 POLG DISP1 EIF2S3 GRN DOCK6 KRAS ERMARD BAP1 SIX3 PEX12 PEX7 SMARCB1 TRNN SLC19A3 DCX L1CAM INSR LHX4 ALX4 ERMARD MSH6 CC2D2A PEX13 NIN BSCL2 CCBE1 GK SCN2A ZIC2 CACNB4 WDFY3 CDC42 JAM2 TRNK LAMA2 GABRA2 KCNQ1 HMBS ACY1 KCNMA1 MED23 CAMTA1 FGF8 DMXL2 PCDH19 SC5D DPM3 EIF2B3 SHH CNTNAP1 PAK1 SYNGAP1 SIK1 CREBBP WWOX HADH OCA2 XPNPEP3 HSPD1 NODAL CEP57 PEX10 PIK3R2 UBE2A GALNT2 SLC9A6 COG2 RAD21 SLC5A6 EZH2 MED25 SMARCA2 ADAT3 ECHS1 DLL1 SLC35A3 RERE FLNA CASK PTPN22 SLC6A8 PTEN FGF12 EPM2A TRNS2 ALDH7A1 CKAP2L CDON TREM2 PPM1B DEAF1 GAL DLD PLA2G6 COG4 EPM2A SIK1 ETHE1 SSR4 TBC1D23 IL12A-AS1 SNORD118 ENG CIT CDKN1B SLC13A5 CYP2R1 FOXG1 HYLS1 ARX UBE3A KCNQ3 NDUFS4 UGP2 TSC2 RANBP2 WAC PPP2R5D SLC2A1 TACO1 ATXN10 FDFT1 HCN1 AASS SLC2A1 CNKSR2 ATP8A2 WDR73 CARS1 SLC18A3 USP9X PEX1 TRNI CUX2 DLL1 NSUN2 TCF20 EXOSC9 TECR GALC PEX14 SLC12A5 ALDH3A2 PSAP GYS2 FGFR3 SORL1 GNB5 DDOST CUL4B TSFM MEIS2 PRODH WFS1 CLPP POMT2 PMM2 BRAF RPGRIP1L ATP5F1A RPIA TUBGCP6 ATP6AP2 CNTNAP2 NDN PEX5 KCNQ2 NTNG1 AIPL1 CTSA SPOP PGM3 CHRNA7 GBA MBD5 MPL SHANK3 KCNMA1 HIBCH PTS ZEB2 LMNB2 XPA TNFRSF11B MAN1B1 NEK1 TRDN BCAP31 WWOX KATNB1 ATRX SYNJ1 STT3A DPAGT1 HCCS GBA SNIP1 ENG SYNGAP1 CCNQ SATB2 PPP1R15B CLIP1 PSMD12 TSEN54 TP53 AGA LAMC2 CPLX1 SLC9A6 IL17F CEP104 PDHX ZNF592 CNTN2 HESX1 CAMKMT MED12 PIGL SDHAF1 MCCC1 CRBN POMK ALG2 TWNK COQ2 ALG9 ATAD3A GLI2 RNU4ATAC NEU1 MGAT2 PRRT2 EIF2B4 TASP1 PMS1 RNASEH2A TBC1D24 HERC1 HCN1 FKTN MLX GAMT IL17RA CALM2 MCTP2 FARS2 FAM126A TK2 MAGEL2 SYP ATN1 NSD1 DPAGT1 FOXRED1 PLA2G6 NDST1 FBLN1 PEX16 PEX10 SOX10 NOS3 IQSEC2 AP4M1 LNPK C9ORF72 HYMAI TMEM216 CISD2 GSS BUB1B GDF2 PRKAG2 MED12 PEX13 CLCN4 GABRG2 DNMT3A NEU1 MFSD2A ATIC SLC6A8 SERPINI1 FOXH1 KCNJ10 CPS1 NDUFA2 YWHAE GRIN1 PLCB1 COX3 GLRB COG8 MECP2 NDUFV2 LSS FBP1 TMTC3 USF3 CLN6 GCK TREX1 CERS1 XPR1 ACVRL1 HADHB H19 OTX2 NDST1 WAC SIK1 NDUFAF3 NDUFAF2 PRRT2 IL17RD CRIPT PCYT1A UNC80 PEX2 PEX10 RNU4ATAC FA2H PSEN1 GLI2 ADARB1 STX16 CLCNKB PIGB IBA57 CCDC141 TRAPPC9 UBTF SUOX RPGRIP1L IQSEC1 DOCK8 AQP2 RPL10 WDR26 HMBS NAXE GABRB2 PIK3CA UBA1 MYO5A ABCC8 DOCK7 INSR PLAGL1 GAS1 SAMD9 PIGH PSAP ERCC5 SLC33A1 USP18 PTCH1 STAT3 HYMAI COQ6 SLC1A4 SCN10A TREX1 RORB AHI1 COLGALT1 KAT6B MEFV STAG2 ISG15 POLR3A TDP1 POMK KDM3B CCDC88A PI4KA ARMC9 RDH12 ACADM IRAK1 TRAK1 FUT8 PEX12 BDNF COL4A2 ASXL2 KIF11 MSL3 HADHA TSEN2 UBE2A HNRNPK TRAPPC11 HIBCH PIGY ENG TGIF1 IDS CACNA1A AVPR2 MTHFD1 PROK2 SETD2 CTSF CCM2 SMARCD1 SOX2 ND5 ATAD3A PQBP1 TELO2 SHROOM4 JAM2 NUP107 HIVEP2 TP53RK GLRA1 TDGF1 ADNP GLI2 NFASC PEX5 TLR3 FRG1 SCN1B PGAP1 TBC1D24 SIX3 ATN1 LAGE3 KCNJ5 TMEM67 CEP41 VLDLR SASS6 TCF4 SYN1 PRRT2 CLCN2 ABCA2 ATRX ZBTB18 RPE65 RBM10 CC2D2A ADGRV1 MAP1B DPM1 NAT8L FGFR2 SCN1A CASR FOXG1 NFKB2 MED12L ALDH18A1 RPGRIP1 PEX11B LIAS SDHD SLC12A1 NAXD WFS1 HAX1 SELENOI ASAH1 GNAS ALG9 TGFBR3 GAMT CYP27B1 TUBGCP6 SPTBN4 ANKRD11 NTNG1 OSTM1 SLC17A5 ATP6V1A MRM2 NODAL PHF6 SLC6A1 IER3IP1 CHD1 SMAD4 IVD KDM6A CLPB TRNS1 KCNA1 NONO NALCN PIGC RAPGEF2 PIGU WDR45 NODAL TCF4 ND6 PEX6 TRNL1 ARHGAP31 NODAL GNE MEN1 CUL4B KCNQ2 DHCR7 TRAPPC4 DHX30 ZNF711 WARS2 NDE1 NECAP1 TBCE POMT1 PHF6 ARID2 PUM1 ASXL1 KCNMA1 FGFR1 ARX MBOAT7 NDUFAF3 SETD5 CILK1 TRNS2 CPA6 ITPA EIF2S3 TRNP RAB3GAP2 PEX3 NBAS GCSH DNM1 AMACR CTBP1 KCNJ6 TBC1D24 SNX14 MEGF10 ARX HUWE1 SCN8A SOX4 RAC1 SYNJ1 NFIA FGFR2 UBE3A BCOR EPB41L1 VARS1 POMT2 PSAP FGF8 PEX13 GAS1 TRIP13 GDI1 SCN10A CPLANE1 AP4S1 CRLF1 SMARCA2 CAMTA1 CEP290 NF1 NUS1 MYT1L CLEC7A CC2D1A GP1BB GLI3 SQSTM1 CYP27A1 PMM2 GABRD PAFAH1B1 CEP41 DLL1 GRIK2 TXNRD2 GABRG2 IKBKG PTEN FUCA1 PAH ARID1B PDHB RXYLT1 CLTC SLC12A5 RUBCN PIGW CCDC88C PSEN1 TLK2 SIK3 NOTCH1 PMS2 P4HTM PRRT2 SEC23B AP4M1 NDUFS8 CDON SLC2A1 TRPV3 DLG4 PPOX CHD1 SUMF1 SLC3A1 GDI1 BRAT1 CC2D2A PDGFRB PSEN1 PLPBP PTCHD1 SDHAF1 CAMK2A CREBBP TBL1XR1 NPAP1 ESCO2 NEDD4L GJA1 BCS1L MSX2 SCN3A TRNF NDUFB11 DOCK6 PLA2G6 KRAS SLC25A12 KNSTRN ARX PHOX2B CDK19 NDUFB8 KMT2E SLC5A7 BCL10 INPP5E CERT1 ATP5F1D PTPN22 USP7 GPC4 ARHGAP31 MAPRE2 NAGA CHMP2B RMND1 PUS3 COQ5 ZIC2 GBA ROGDI EEF1A2 PEX26 TDP2 ZNHIT3 PDCD10 PEX26 AIFM1 SCN11A ZMYND11 DISP1 TUBB2A SLC35A3 SPRY4 ATP1A3 KCNH1 PEX19 CDK13 CTC1 MED25 FOXH1 AP4E1 KCNC3 YWHAG AIP IKBKG PRTN3 SP110 ARID1A NAGA MED13 FRA16E SLC16A1 GP1BB TRNS1 FCGR2B LHX4 INPP5E CASQ2 GMPPA ABCD1 ATP1A2 AP4S1 KATNIP HCN1 MOCS1 YWHAG DSTYK NADK2 TSC1 PSAP TREX1 GRIA4 ALDOB PROP1 ZNF81 SMARCC2 ND5 IFIH1 KIF1A RPS6KA3 PHACTR1 NDUFS7 PLK4 FGFRL1 PODXL RNASET2 GCDH UGT1A1 AP3D1 SALL4 WDR37 NEDD4L CDK10 GLI3 PEX3 DYNC1H1 TRNF NPRL2 ALDH7A1 WDR62 CAMK2A FADD OTC C4A ACO2 TRNQ TOMM40 DIAPH1 KIAA0586 RAI1 MPDU1 SH2B1 KPTN MECP2 MECP2 LAMC3 SNRPN KDM6B SON FIG4 TRNS1 HNMT PDCD10 TBC1D24 GRIN2B PEX1 SLC25A15 DMXL2 HDAC8 LGI4 EPRS1 GRIN2D MFF KCNQ3 ASPA TRAPPC11 PRMT7 KCNQ3 ERCC2 JRK PRF1 FKTN MAP1B TBK1 SCN4B GBA TREM2 SMARCA4 GM2A MSH2 DHCR7 MMACHC KDM5C PIGG SDHB CAMK2B GMPPB SLC35A1 AMER1 GBA SPP1 KIF7 MYH3 KCNJ13 TBCD FGFR3 FOXP3 KIF5A TRNK PPT1 PLEKHG2 AKT1 TRNF THOC2 PEX5 NUS1 SOX5 BCKDHB SARS1 KANSL1 CEP120 PURA HMGCL SATB2 ACP5 TRAPPC12 DNM1 KAT8 TUSC3 ZFP57 CARS2 ALG13 PLAA PTH PCNT OFD1 TET3 KLHL7 CLTC CDON TYROBP ACTG1 PIGA NNT OTUD6B VCP EARS2 WDR26 CRX KCNB1 KDM6A DBT HS6ST2 SLC45A1 DEAF1 STRADA DPM2 PSMD12 STXBP1 SLC35C1 CLN5 ASXL3 PWAR1 SLC1A4 TRIP12 NUP133 TCF4 AGRN ALAD TGDS ERCC4 TMX2 SCN8A ASNS KCNMA1 FAM111A GLUD1 OCLN PEX16 NIPBL MTM1 SMAD4 LIPT1 LAMB1 TRNL1 FGFR1 HECW2 SETD2 PRODH TBR1 CDH15 LRP2 PHF21A ZIC2 B3GALNT2 ARSA NNT MANBA LINGO1 MID2 FLVCR1 NUBPL FA2H CDKN2C PIGN NDUFA10 MED12 ND2 SLC13A5 NHLRC1 UFM1 ADAT3 PSAP PPA2 CPOX APC2 TRAF7 KIF7 ADPRS PRNP PDE10A NSMF ARID1A CRLF1 TBX1 NSD1 ARG1 KCNN3 AIFM1 SMC1A PIEZO2 LMNB2 CREBBP FGFR3 TMEM237 CDH23 NDUFS7 PDGFB EML1 PDE6D ATP6V1A TMEM231 TBX1 ERCC6 MTFMT SLC19A3 EPCAM MECP2 PEX14 PGAP3 IL10 TULP1 GABRB3 NDUFS8 DEPDC5 GCK SCN9A SDHD EHMT1 ATP1A2 STRADA TRNF WASF1 NDUFAF5 NDUFB11 FOXP1 FUCA1 SDHB RNASEH2C NSD2 ROGDI FH NLGN3 ARFGEF2 NOTCH3 SYN1 PEX5 XPR1 PEX19 TUBG1 CRADD PDHA1 SMARCE1 CRBN ATP6V1A MPDZ NADK2 ARV1 POMGNT1 PERP COL1A2 FAM149B1 TRAPPC9 ND6 SIK1 ASL HESX1 SLC25A19 LGI1 AVPR2 TGIF1 NEUROD2 TRAF3IP2 ARFGEF2 TBX1 IDS KPTN ZNF41 KISS1R SSR4 MYH14 PIGP HNRNPU DDX3X TRNS1 STEEP1 ALG2 TRIM71 GABBR2 ASXL3 CIC TRAPPC6B DNMT3A CTSA GUF1 CPT2 EIF2B2 ATAD1 SC5D KCNJ11 SCN1A SUCLA2 IL23R COX2 COQ2 KCNC1 SRPX2 OFD1 TRAK1 POLG TSC2 RAI1 CHAMP1 PEX12 GAD1 HADH SCN8A TUBA8 CHD2 FGF8 GRIK2 SNRPN PROKR2 NDP STT3B CAMK2A TCF4 FADD TANC2 COL3A1 ATP1A1 CYFIP2 VARS2 TIMMDC1 EIF3F GCK POGZ TCTN3 KDM5C GLI3 SDHD SLC19A3 MANBA TAT SLC25A13 TDGF1 SMARCE1 POU3F4 SEMA3A HACE1 PARS2 LRPPRC IREB2 LIPT2 TERT ACOX1 MVK PPP3CA CACNA1D B4GAT1 PEX26 WDR45 GNB1 LAGE3 MOCS2 EHMT1 NF2 PURA NF2 DYRK1A GABRB3 TUBA8 HEXA NDUFS1 FAS SAMHD1 TBC1D24 PTEN TGIF1 CLP1 ARX MLC1 TRNK PCLO GABRD ABCC8 SCN2A FMR1 TPRKB TWNK ELOVL4 HGSNAT OAT TBC1D24 GNAQ MYO9A CYFIP2 KCNA2 LMAN2L SRD5A3 FRMPD4 IFIH1 FTO KCNJ11 CLPB COL13A1 GNAS TWNK OSGEP ATP6V1B2 SETD5 POMGNT1 CCR1 CRPPA HK1 UQCC2 COX2 EIF2B1 OFD1 GPR161 MED12L DYRK1A POMK PEX2 SCN8A FAS UPF3B CDH2 KIRREL3 UPF3B DUSP6 DHDDS OTUD6B POMC TRNT1 EFHC1 TGFB1 NDUFA9 HCFC1 CLN6 NPHP1 ANKH TECPR2 GLS GPHN NRAS ERAP1 ERCC6 ZDHHC9 FARSB RAB27A SLC1A2 PACS1 FCSK SZT2 RALGAPA1 ST3GAL3 ANK1 NIN JAK2 GLI3 PHOX2B FTSJ1 LYST GBA SLC25A22 LETM1 STX1B COX4I1 PGAP1 CLN8 NEUROD2 HERC2 IGF2 MBTPS2 HPRT1 ATIC GNAQ GNAS KLRC4 DNASE1 PREPL ACADM TRAPPC2L FAR1 PROKR2 FMN2 PIGN IQSEC2 TBL1XR1 NLGN4X IDH2 MVK DLK1 GUCY2D GM2A NDUFAF8 GNAO1 BCORL1 NTNG2 GTF2E2 KLHL15 SYNJ1 CSNK2B SGSH KCNT1 RNU12 TRAPPC4 VPS11 CACNA1B MED12 CDKN1A ALG1 TXN2 CRADD KIFBP TANGO2 GRIA3 GRIN1 MIPEP GP1BA PEX1 GABRG2 ARHGEF6 COX3 COX7B ERCC3 DYNC1I2 ACOX1 KCNAB2 CTNS ANGPTL6 TRIO SPR PAH OSTM1 DISP1 ANKLE2 EZR GABRB1 NTRK2 CDKL5 ACSF3 KMT2D SPG11 SLC6A5 NOTCH2NLC EEF1A2 PET100 KCNA1 CLTC PEX3 FEZF1 IARS1 ERCC6 MAGEL2 MC1R SLC2A1 TRNK NDUFAF4 C12ORF57 IQSEC2 AMT TECPR2 SLC9A7 KRAS PIGY KIF2A RAB39B ATP2A2 FRMPD4 D2HGDH MGP TRDN SPINK5 NHLRC2 NGLY1 GNAS PGAP2 LARP7 STARD7 STAG1 RYR2 CCND2 UCP2 RPL10 CEP85L CTNNB1 ANO10 WDR45 PACS1 NELFA NAA10 NTRK2 FDXR NLRP3 KCNJ11 STXBP1 PAX2 ND1 FXYD2 ATP1A3 PIK3CD ARSA ASS1 USP9X POLG PSAP AIMP1 HLA-DPA1 GUCY1A1 SETBP1 ATP10A MSX2 SVBP ADAM22 CPS1 ATP6 DCX FKRP PURA GPC1 CYP27A1 PROKR2 EBP ARHGDIA SIM1 L2HGDH SCN1A NACC1 ROBO3 SDHA NF1 PHGDH ACTL6B RAC3 TREX1 ATP6V0A2 MYO5A MORC2 STT3B POLG2 MEF2C SCN3A TRAF3 SLC19A2 ATN1 MTHFR HLCS CD96 SATB2 KIF5C ERCC8 HLA-DPB1 DLD PEX2 VPS11 CFHR1 FOXH1 CLCN4 GABRA5 SURF1 MECP2 KMT2C SLC25A20 SERAC1 HRAS AKT1 RNR1 TSC1 MEN1 TRMT10A NIPBL ACOX1 ARX SLC1A2 MBD5 ATP6 PTRH2 KMT2A CCDC115 GAS1 PROP1 METTL23 SLC13A5 ACTB TRNW B4GAT1 FBP1 CTLA4 TUBB3 PDE4D MRAP ADAMTS3 SOX10 ERCC3 DNM1 CBS NCAPD3 DAG1 KDM5B COG8 CDH23 FGFR2 ISCA1 CDON CLN3 FKTN DPM1 TPP1 KCNJ1 FGFR1 ASPA PHACTR1 VPS51 DISP1 ATP6AP2 LSS MFSD8 TMEM70 NDUFAF6 SPTAN1 STAT2 GABRA2 ARL6IP6 CHD2 CYP27B1 GALC ERCC1 LIG4 FKTN NF1 PDGFB GYS1 FAS NAGS PAK3 RTTN TCIRG1 KCNA2 EEF1A2 CDH15 DPYS TDGF1 KDM5B PSEN2 TMEM216 CACNG2 NFIX FTSJ1 RFT1 COX15 PCDH12 SLC35A2 CNPY3 FGF8 CDKL5 POMT2 COX1 STXBP1 ABCC8 CTLA4 FLI1 MAPK8IP3 MMADHC DPYD GPHN PRRT2 ARSA ERCC2 WDR4 AP4B1 EXT2 ROBO1 GTPBP2 KMT2A MTRR CYB5R3 STXBP1 IPW ASCL1 GATA6 DIP2B ARNT2 HTRA2 AP2M1 CHD8 CNPY3 GTPBP3 AUH FGF8 SNRPN SLC45A1 STAG2 LMX1B KCNA2 ADSL HNF1A L1CAM LONP1 ZC3H14 DCPS SAMD12 KIF1A HTT SLC25A15 KCNJ10 CXCR4 ERCC8 UNC80 PGAP3 ACADSB MEFV COQ9 GJC2 WDR81 KCNQ2 SUCLA2 RNASEH2B GABRG2 GRIN2B SLC44A1 KCNA1 NOTCH3 TICAM1 HERC2 CYTB MAF TRPM3 CTNNA2 ALG3 ABCC8 TUBGCP4 CASK NPC1 FTL POMC EFHC1 FAM111A NDUFS2 DBH ALG6 NDUFS1 UBA5 MMAA AP2M1 CALM3 PEX6 ZFYVE26 GUF1 FARS2 ATP7A HTT ZIC2 RNF213 NPC2 PRRT2 PIGV ALMS1 HTT FGF8 LINS1 KDM6A GPC3 DHDDS FRRS1L PEX14 DYNC1H1 CYP26C1 FKRP MAGEL2 SYNGAP1 PQBP1 COG5 ETHE1 DNASE1L3 RASGRP1 GRM1 CHD7 CCDC141 NSDHL PROC KLLN IARS1 OTX2 ZNHIT3 STX1B DHFR GAS1 FBXW11 SCN2A ACTA2 PTCH1 ATP6AP2 STUB1 EPG5 GLI2 LBR NDE1 HIC1 ARID1B ZBTB18 BRAF BCOR FLNA IL12A CPA6 MMUT CLDN16 IQSEC2 POLG2 IL17RC PRRT2 GNAQ SCYL2 ALG11 SMARCA4 KIAA1109 SET CLP1 PIGM XPC PMPCB MKRN3 CD96 L1CAM PNPLA8 ATAD3A TXN2 NDP ECM1 EIF2B5 ADGRG1 OTX2 FMR1 PLP1 VAMP1 PAH RTL1 IQCB1 CAMK2B MYO5A TWNK PROKR2 PLPBP POLE NECAP1 FGFR3 TBCE SCARB2 ASH1L UPB1 GABRA1 PIGL CACNA1A SLC2A1 MDH1 PEX10 WDR73 SLC46A1 DHPS JMJD1C RSRC1 KCTD7 CPT2 GLI2 BUB1 ERLIN2 TMEM106B GMPPB CILK1 SHROOM4 NRXN1 KCNT2 IL12B OCLN SLC2A1 GEMIN4 UFC1 ALG3 TMEM237 TNIK TBX1 PIGT STAMBP TMLHE KLF13 FKRP KAT6B FLNA HCCS NOTCH1 FOXA2 MPLKIP STXBP1 KCNK4 CDH11 GLDC TIMM50 PLAA MADD GCDH ADA2 PEPD MYT1L BMP4 GTPBP3 CTSD KRAS CCM2 TRMT10A PTCH1 DARS2 EP300 GNAO1 CDC42 CDKL5 TANGO2 SNX14 AKAP9 PIGO STAT4 COL4A1 RHOBTB2 BPTF KCTD7 SIN3A GNB1 SLC6A19 TBCE SMARCB1 SNRPN SOX10 KCNMA1 BRAT1 NSUN2 ARX ZMIZ1 ANK2 WDR4 RNF113A HNRNPK MBTPS2 PRSS12 FASLG NDE1 ALDH4A1 SLC39A8 PNPO TAF1 ATRX DOCK7 RAB39B DCC SMARCC2 DEAF1 NSDHL SCN1A PLA2G6 TUBB3 PSAT1 ADGRG1 PSMD12 ATP6AP1 PCDH19 MLH1 HEPACAM POGZ GABRA1 IMPDH1 PIK3R2 IQSEC2 BPTF LAS1L PPP2CA RARS2 LONP1 GRIN2D ARCN1 PIGV HESX1 BCOR POLG CLCN2 ARSA SLC12A3 ARX GYS2 NEU1 GABRA1 MACF1 TGIF1 SETBP1 ATP1A2 CFH UBE3A ERLIN2 CPLANE1 PEX6 ZMIZ1 HDAC4 TSC1 SCN2A PIGQ TP53 MPDU1 ATP1A3 AKT2 GOT2 CHRNA2 ATR MYO1H SETD1B RPL10 CACNA1A CNTNAP2 CLIC2 GABRD SEMA4A HTT GABRB3 SCN2A EHMT1 TRIM8 RAB11B FIG4 LAMB1 MKS1 DOCK3 TRNS2 SMS SETBP1 SURF1 TFAP2A MC2R NDUFA1 UFD1 GDF6 ARL13B ASAH1 DHX16 HNRNPH2 CENPE GLS DNAJC6 GBA MECP2 SHANK3 GCM2 ATRX FLVCR2 SNTA1 CACNA1A LAMB3 SMS ERCC6 ACTL6B KMT5B KANSL1 GRIN2A PTCH1 EIF2AK3 SCN1A NR2F1 POMT1 ARV1 RAB18 SLC1A3 PLCB1 DNAJC19 TDGF1 ATP13A2 SEPSECS TRAPPC12 PEX5 FGFR1 CUX2 CHD2 RAI1 NDUFS2 BCKDHA MYRF CDKL5 PHKA2 HTRA1 STXBP1 CPT1A ZEB2 PIGO SMC1A PIBF1 PCCB SCN1A SPTAN1 KCNQ2 LARS2 SIX3 NALCN OCRL GPHN CTU2 METTL23 PEX16 HSD17B10 SMC3 PDX1 PEX19 MICAL1 IQSEC1 DIS3L2 TLR3 PRNP RAB11A DLL1 RBPJ HIVEP2 SHH CPT2 DPH1 TMEM94 PIGG TBCK ADAR MTRR HDAC8 MLH3 ITGB6 TSEN15 COL4A1 SRPX2 STAG2 GFM1 COL18A1 ALG13 BUB3 ALDH5A1 AQP2 STT3A KIF1A NSD1 BOLA3 C12ORF4 GABRD TRIP13 MEG3 TREM2 KMT2C DDX3X ADGRV1 NARS2 BCR PIGS RSRC1 RNF125 PSPH SCN3A GLB1 AHDC1 ABCC8 CNNM2 SNAP25 CENPJ DLL1 LAS1L EXTL3 CHRNB2 DHDDS COMT EXOSC3 SLC25A42 MYORG KAT6A AAAS ARX EMG1 CDK19 NECTIN1 PDSS2 RELN RAB27A L2HGDH LARGE1 FCGR2A RPS6KA3 YEATS2 IRF3 AUTS2 CYTB TMEM67 ABCD1 ADAMTSL2 FOLR1 IL1RAPL1 GRIA3 MTHFS OCA2 LHX1 TGIF1 PIGN PROK2 TRNH PAFAH1B1 INPP5K GNE APP PCYT2 ALG13 ACADS ATP6V0A2 NSUN2 AGTR2 EPG5 ERCC6 PRPS1 DDB2 CASK CNNM2 KIF11 SHH ARID1B CACNA1C ARL3 GABRG2 MTOR HACE1 OSGEP LAMA3 POMGNT1 SHH PRKDC MED13 RORA ACSF3 ARX SLC1A3 GJC2 SAMD12 AKT1 LMBRD1 TTR AARS1 PDSS2 NDUFA2 NDUFAF2 KCNJ11 CTNNB1 CEP120 AIMP1 PTEN CPT2 CPLX1 NDN AP3B2 RAB39B DLL1 RAB39B PRDX1 KCNQ5 TGFBR2 PRPS1 FKRP MTR MECP2 SPAST GPAA1 GRIN2A SLC13A5 IFT140 KCNE1 HIRA ACTG1 SVBP B3GALNT2 ARMC9 HOXA1 BAP1 STXBP1 MEN1 COX1 CSPP1 HSD17B4 SIX3 FOXG1 EXTL3 MCCC2 THOC2 MEF2C PET100 MOGS ACTB SOX11 MSX2 GNB5 EGF USP9X ND4 CKAP2L GABRG2 POLG PTS SCN9A MLYCD CHKB SON HESX1 ACTL6B RANBP2 NRAS GABRB2 TRNL1 KCNQ5 PCK1 NOTCH2NLC AKT3 HPDL GFAP NRAS DNAJC5 PEX2 MRPS22 FRRS1L OPHN1 PCCA QARS1 TDGF1 NTRK2 HNRNPU PACS2 GLA HSD17B10 TRNW ST3GAL3 NF1 NPRL3 RARS1 SHH RUBCN ADSL CASK TRNV TANC2 NUS1 SYNGAP1 NEXMIF DENND5A NFIX TRNL1 SLC12A3 GALC RNF13 OCRL SLC17A5 TOE1 FGFR2 SLC25A4 NAGA MGP SCN5A ARG1 GBA TMTC3 TSPAN7 SLC35C1 ARX TSEN54 SLC35A2 VPS13A AHSG NDUFA12 ADK GRIN2A SLC25A20 POU1F1 TRNH AKT3 GABRA5 AMPD2 SNRPN ADRA2B SLC22A5 FGF17 SCN2A DEAF1 CNKSR2 USP45 FGFR1 STAR TRMT1 HUWE1 PDP1 DNM1L UBE3A AFG3L2 EGF MAST1 GNAS TAOK1 GATA6 SIN3A POMGNT2 JAM3 GRIN2A ND1 CBS MARCHF6 KMT2D DLG3 TBCK WDR73 SUFU NF2 MICOS13 ACAT1 CASP10 KIF4A PAK3 ZSWIM6 GATA3 APP CNOT1 DALRD3 SPR ZEB2 TRIO CHN1 QDPR GLE1 PIK3R2 EBP PGK1 KCNH1 MED12 SLC2A3 PLP1 RAC1 FGFR3 KIF15 TRNQ SLC20A2 MECP2 SLC25A22 ND3 CACNA1H CLCF1 PDHA1 TNFRSF11A TMEM231 GLA FBXL4 ASXL1 LARS1 GMPPB KCNT1 MED17 NSD2 HS6ST1 DPF2 HADH PIK3CA SCN1B AP3B2 DDX6 APP RELA SRPX2 PTCH1 CA8 GPAA1 NHLRC1 SYP ZSWIM6 NDUFV1 WASHC4 TRAF7 GJC2 CDON ST3GAL5 RNASEH2A CIC ODC1 FGFR1 POLR3A GPT2 TWIST1 NDUFA13 GABBR2 BCORL1 PIGW NDUFA4 ACSL4 FOXH1 COG7 SCN2A NEK9 STS COG4 ABCC8 MID2 PAFAH1B1 MPC1 TBCD PSAP ABAT ALDH5A1 COX8A GP9 PTEN PYCR2 GATAD2B NACC1 TBCE NUP214 ASH1L DISP1 TCTN2 TACR3 TBCE GLYCTK TSC2 PEX14 KANSL1 NOVA2 TRNP EIF2AK2 MAPK1 IFNG NDUFS3 HNF1B FASTKD2 NDN ND5 TCF20 COG2 IDS PANK2 MC2R FAM149B1 DPM2 OPHN1 NAGS OCA2 FLCN ALG11 NANS DYRK1A RPS20 ARNT2 HLCS LYST NDUFA11 SMO NONO SNRPN CSTB SCN9A AFG3L2 CASQ2 SLC25A1 ZNF142 MAN1B1 IL1RAPL1 SLC39A8 ATM PTRH2 POLG ZNF423 FMN2 UGDH FAM111A TUBB2B PSPH CTH PIGL FGFR1 RD3 NDUFB8 CACNA1C SCN9A NDUFS6 FBXO31 ABCA5 ACY1 B9D2 COQ4 VPS13A ARHGEF9 BMP2 ZBTB20 CSNK2B TBX19 HERC1 DNM1L METTL5 POMT1 GRIN1 TUBB2B NEXMIF CSNK2A1 MTOR SARS1 GATA4 TRAPPC9 SNORD116-1 TMEM165 CAD MN1 POLR2A NDUFAF5 SGPL1 GRIN1 RRM2B KRIT1 CDKL5 SETD1A POLA1 SMARCB1 TRNT PPP2R1A SURF1 CALM1 SIX3 TWNK UNC93B1 TP53 SMPD1 PRUNE1 BSCL2 B3GALNT2 PSMB8 STAG2 CRKL LMAN2L CACNA1D ATM CDKN2B KRIT1 SZT2 CHRNA4 CLN8 SLC2A1 KCNQ3 COL18A1 RPS6KA3 MRPL12 MMACHC GOSR2 TCTN1 CDON SRPX2 NMNAT1 KCNJ11 NDUFV1 SMC1A FOXRED1 AVPR2 ARF1 OPA1 MARCHF6 CACNA1B COG6 TRNQ BCL11B GABRB3 PRDM16 EDC3 UBE3A ADGRG1 ACTL6A HEPACAM TK2 ZIC2 VLDLR UBE3A PRRT2 ERCC2 PTPN23 TRIT1 LARGE1 EXT2 HADHA ALX4 USP27X UBTF GPSM2 TUBA1A NUP133 KCNJ6 RERE MAPT CEP290 ZC4H2 SKI TMEM237 ASPA LAMA2 PIK3CA LARGE1 DCC PRDM8 EOGT ANKRD11 ALPL TRNW SMC1A POMT2 KCNE2 SLC46A1 MTFMT RTTN CHAT SDHC SEC31A KRAS TLR4 TBCE COX7B SLC25A1 RAB3GAP1 PTCH1 KCNH1 TBX19 B3GALT6 YEATS2 MYT1L FAM50A GLI2 PDHA1 GAS1 PCDH19 CSF1R TBP COQ8A NIPA1 SLC6A1 AP4E1 ANOS1 ANK3 SMARCE1 LCA5 SET ATP7A GLUL KCNQ1 TMEM106B PEX6 SLC6A19 MAGEL2 WARS2 EBF3 DGUOK STAT4 FITM2 WWOX GTF2H5 TRNV FAT4 LRP2 CYB5A TSEN54 ALDH3A2 PIGC ALG1 MOGS MAPK10 PIGP UBA5 RELN COQ8A UBAC2 MAP2K1 SCN1B NIPA1 SCN1B CARS2 PARS2 TMEM138 PHOX2B BMPR1A MMADHC RBM8A ARF1 ALKBH8 CFHR3 MTHFR NDN TMEM70 SLC12A6 POMT1 TDP2 BCKDK CACNB4 DHCR24 CREBBP SMPD4 ALPL SNAP29 NKX6-2 RECQL4 AUH NAGLU TRNL1 RET TRMT1 TDP1 PEX5 NRROS SNRPN AKT1 ACVR1 RERE TP53RK ARX ERLIN2 TBK1 ND5 GNAO1 SYT2 NDNF HSD17B10 PPP3CA B9D1 WHCR DLG3 GFM2 HPD NAA10 STXBP1 SARDH ND6 IVD HLA-B FGFR3 EP300 MAGEL2 GMPPB NDUFS4 MFF HCFC1 INPP5E GMPPB RELN SETBP1 TRAPPC11 CRB1 MECP2 NODAL GRM7 ATAD1 VDR ERCC4 PYCR2 RFT1 HDAC8 USP7 TREM2 ATP6V1B2 CTNND2 FLII CLIC2 CPT2 ATP6 ABCC9 DHCR24 COA8 CLTCL1 TOE1 TMEM67 AP1S2 RLIM NEU1 ASAH1 PIGQ CLN8 INS HLA-B FGF12 BTD SDHA
Protein Mutations 1
A147T
HP:0002069: Bilateral tonic-clonic seizure
Genes 341
TRNK TXN2 ND6 KCNA1 CLTC SLC12A5 TRNL1 PCYT2 ALG13 GRIA2 TRNK KCNQ2 AGTR2 ZNF711 TRNC SLC9A7 FA2H FRMPD4 CSTB SCN9A ND2 NHLRC1 AFG3L2 KCNMA1 ZNF142 ARX IL1RAPL1 PGAP2 APC2 STARD7 ASH1L TRNS2 ND1 CPA6 CEP85L EFHC1 GABRA1 PSPH SAMD12 KCNJ11 KCNQ2 NSD1 DNM1 PDSS2 SCN9A MBD5 ND1 KCTD7 TBC1D24 TMEM106B CILK1 ARX SCN8A DNM1L SLC2A1 MECP2 PGAP3 NEK1 PIGT CSNK2B EPB41L1 HERC1 DMD RAB39B GCK KCNQ5 ATP1A2 PRPS1 GBA STXBP1 SYNGAP1 SCN1A CPLX1 CNTN2 PHGDH SPATA5 MED12 PIGL BRSK2 SETD1A SQSTM1 PDHA1 TBC1D24 COQ2 GABRD COX1 FOXG1 GABRG2 CACNA1D THOC2 CDKL5 MTHFR TBC1D24 SLC12A5 ND6 PIGO SIK1 KCNQ3 CLCN4 SLC25A19 LGI1 GRIN2B ND4 GNB1 GABRG2 GPT2 NEUROD2 KCNMA1 SCN9A SYP SLC2A1 CUX1 GDI1 ZNF41 KCNJ11 PSEN1 PIGP HNRNPU PTCHD1 STEEP1 MARCHF6 TRNQ TRNW ADGRG1 C9ORF72 BUB1B GABRB3 SCN1A CLCN4 SCN1A KDM5B GABRG2 PCDH19 JRK SCN1A COX2 GABRA1 TRNW VAMP2 SRPX2 USP27X POLG SCN1B CERT1 GRN GRIN1 COX3 CHAMP1 ATP6AP2 LONP1 TRNV CHMP2B PUS3 SCN8A COQ5 CERS1 CHD2 CLCN2 MAPT RNF13 ZMYND11 GABRA1 GYS1 WAC TSPAN7 EEF1A2 CDH15 TRNW SP110 VPS13A CACNG2 FTSJ1 SCN2A GRIN2A TRNS1 TRNH GABRA5 COX1 HACE1 STXBP1 HCN1 SLC22A5 SETD1B SCN2A DOCK8 RPL10 WDR26 MYT1L ABCC8 ZNF81 ND5 PCDH19 SCN2A KIF1A CACNA1D TRIM8 FIG4 UBE3A AFG3L2 DYRK1A GABRB3 STAT3 TAOK1 TUBA8 GRIN2A ND1 AP3D1 PPP3CA DHX16 RORB ND4 GABRD SCN2A PNKP DYNC1H1 AP2M1 TRNF PAK3 SCN2A CAMK2A ACADM GRIN2A TRNV TRNQ LAMC3 MAPK10 TRNS1 COX2 CHD2 SCN1B NIPA1 DMXL2 TRAPPC11 SCN1B SCN2A PIGY KCNQ3 STXBP1 GABRG2 ASPA CACNB4 UPF3B KIRREL3 JRK ND3 SETD2 CACNA1H CYTB ND5 GPHN EFHC1 TRPM3 KCNMA1 HCFC1 CACNB4 PCDH19 EFHC1 PDX1 CAMK2B MICAL1 TRNL1 RAB11A AP2M1 SCN1B TBCD HIVEP2 PIGG SLC25A22 TRNF GPAA1 STX1B SLC9A6 NHLRC1 CLN8 PIGV TCF4 ND5 PURA SRPX2 DLG3 CLCN2 ALDH5A1 STXBP1 CASK SARDH ND6 ST3GAL5 EPM2A TRNS2 CIC ALDH7A1 GABRD ADGRV1 IQSEC2 TREM2 PIGW ADGRV1 DEAF1 ACSL4 RELN MED12L EPM2A MID2 SIK1 GNAO1 VCP STX1B PSAP ALDH5A1 SCN2A COX8A PYCR2 GAMT ATP6AP2 DHDDS KCNQ3 LBR SLC1A4 TANGO2 GRIA3 GRIN1 GABRG2 ARHGEF6 COX3 TMX2 ATP6 SLC2A1 CLTCL1 CNKSR2 SLC6A1 RPS6KA3 YEATS2 PRRT2 SET USP9X ASAH1 PIGQ CLN8 INS CUX2 TRNL1
Protein Mutations 0
SNP 0
HP:0002197: Generalized-onset seizure
Genes 420
EZR CDKL5 ACSF3 TRNH TRNK PRICKLE1 KCNA1 CLTC PCYT2 ALG13 NSUN2 AGTR2 ZNF711 SLC9A7 FRMPD4 KCNMA1 ARX NGLY1 ST3GAL3 MBOAT7 HACE1 CILK1 ND1 CEP85L MED13 EFHC1 GABRA1 ACSF3 ANO10 CNTN2 TRNP SAMD12 KCNJ11 DNM1 PIK3CD TBC1D24 ARX AIMP1 DNM1L CPLX1 EPB41L1 DCX DMD RAB39B KCNQ5 GDI1 SCN1A TARS1 SMARCA2 NUS1 PHGDH CC2D1A SPATA5 BRSK2 TBC1D24 GABRD PAFAH1B1 GABRG2 MBOAT7 PIGA MTHFR SATB2 CLCN4 GRIN2B ND4 GABRG2 SCN9A CUX1 SON RNR1 GDI1 PTCHD1 SDHAF1 TRNL1 ADGRG1 FRRS1L KDM5B TRNF JRK SCN1A KNSTRN SCN1B MFSD8 TRNV COQ5 CHD2 TRNL1 PRDM8 ZMYND11 MAN1B1 GBA TSPAN7 EEF1A2 CDH15 KDM5B CACNG2 FTSJ1 PCDH12 XK TBC1D24 APC2 GRIN2A CDKL5 GABRA5 STXBP1 HCN1 ADRA2B SCN2A PSAP PRRT2 ZNF81 ND5 KIF1A UBE3A AFG3L2 BTD TAOK1 MARCHF6 PPP3CA PNKP DYNC1H1 AP2M1 PAK3 CAMK2A GRN ZEB2 ZC3H14 DCPS SAMD12 HNMT SLC25A15 SLC25A15 DMXL2 SCN2A TRNQ KCNQ2 KCNQ3 GABRG2 CACNB4 KCNQ3 JRK SLC25A22 ND3 CACNA1H LAMA2 TRPM3 KCNMA1 MED23 PCDH19 DPM3 FTL EFHC1 CAMK2B SIK1 GBA AP2M1 SCN1B TBCD TRNK SLC9A6 NHLRC1 ALMS1 MED25 KANSL1 PURA LINS1 WASHC4 SLC35A3 CASK EPM2A CIC ALDH7A1 GABBR2 TUSC3 SYNGAP1 DEAF1 ACSL4 EPM2A MID2 SIK1 STX1B DHFR ALDH5A1 COX8A SLC45A1 ARX GATAD2B STXBP1 ATXN10 TMX2 SLC2A1 KCNMA1 CNKSR2 GLUD1 TRNP PRRT2 SET PIGM ND5 COG2 USP9X TRNI CUX2 TRNL1 TECR DPM2 OPHN1 B3GALNT2 GALC SLC12A5 PLP1 NUBPL CSTB SCN9A ND2 NHLRC1 AFG3L2 IL1RAPL1 APC2 SCARB2 ASH1L PTRH2 GABRA1 KCNQ2 NTNG1 NSD1 GBA SCN9A MBD5 RSRC1 FGFR3 KCTD7 KCNMA1 FBXO31 CILK1 KCNT2 MECP2 ARHGEF9 TNIK PIGT CSNK2B GCK EHMT1 GBA TRNF MPLKIP STXBP1 SYNGAP1 NEXMIF MTOR CLIP1 SDHB SARS1 CPLX1 SLC9A6 TRAPPC9 PLAA MED12 CRBN ATAD3A SMPD1 PRRT2 CDKL5 HCN1 TRAPPC9 SIK1 SLC2A1 KCNQ3 KCTD7 NEUROD2 TK2 BRAT1 SYP GOSR2 RNF113A HNRNPK ZNF41 PRSS12 NDE1 PIGP STEEP1 LNPK DOCK7 BUB1B GABRB3 EDC3 SCN1A CLCN4 SCN1A PRRT2 GABRG2 ERCC2 PCDH19 TRIT1 GABRA1 KCNJ10 USP27X GRIN1 PLCB1 CHAMP1 SCN8A CHD2 GRIK2 CLCN2 CAMK2A NDST1 GABRA1 ATP1A1 WAC ASPA TRNW RNU4ATAC SDHD SEC31A HACE1 SETD1B DOCK8 RPL10 YEATS2 WDR26 CNTNAP2 MYT1L ABCC8 PLAGL1 GABRB3 PCDH19 SCN2A TRIM8 SLC6A1 PSAP TRNS2 DYRK1A GABRB3 STAT3 NDUFA1 HYMAI TREX1 RORB TRNK GABRD SCN2A ELOVL4 SMS LMAN2L KANSL1 GTF2H5 GRIN2A PIGC MAPK10 RELN CUX2 CHD2 SCN1B HNRNPK SCN1B CARS2 CDKL5 STXBP1 ZEB2 UPF3B KIRREL3 SETD2 SCN1A KCNQ2 GPHN METTL23 EFHC1 HCFC1 CACNB4 PDX1 IQSEC1 SZT2 RAB11A SCN1B PGAP1 HIVEP2 SLC25A22 STX1B TCF4 GNAO1 SRPX2 DLG3 CLCN2 ALDH5A1 STXBP1 ND6 C12ORF4 GABRD FMN2 ADGRV1 IQSEC2 ADGRV1 NFKB2 MED12L GLB1 MECP2 GNAO1 GTF2E2 ASAH1 EXTL3 GAMT DHDDS CRADD TANGO2 GRIN1 CTNND2 GABRG2 ARHGEF6 OSTM1 ATP6 ERCC3 SLC6A1 IER3IP1 RPS6KA3 TRNS1 NEU1 ASAH1 PIGQ INS SDHA
Protein Mutations 0
SNP 0
HP:0007359: Focal-onset seizure
Genes 322
EZR CDKL5 ACSF3 PNPLA8 TECR OPHN1 ND6 KCNA1 CLTC B3GALNT2 PCYT2 GRIA2 KCNQ2 NSUN2 FA2H SMO SCN9A NHLRC1 ARX NGLY1 ST3GAL3 MBOAT7 APC2 ASH1L CPA6 CEP85L FMN2 CNTN2 GABRA1 PACS1 KCNQ2 NSD1 DNM1 PDSS2 SCN9A MBD5 RSRC1 KCTD7 PDGFB TBC1D24 FBXO31 AIMP1 DNM1L ARHGEF9 TNIK CSNK2B EPB41L1 DCX KCNQ5 FLNA STRADA TUBB2B STXBP1 SYNGAP1 MTOR SCN1A CLIP1 AP4S1 SDHB SARS1 CPLX1 SLC13A5 TRAPPC9 NF1 CAMTA1 CNTN2 PHGDH CC2D1A SYN1 BRSK2 TBC1D24 COQ2 SMARCE1 PAFAH1B1 BAP1 COX1 UNC93B1 CRBN FOXG1 GABRG2 TRAF3 PRRT2 CACNA1D CDKL5 MBOAT7 TSC2 MTHFR TBC1D24 SLC12A5 CHRNA4 KCNQ3 LGI1 PRRT2 GRIN2B GNB1 NEUROD2 KCNMA1 SCN9A BRAT1 CUX1 ARFGEF2 SRPX2 PRSS12 KCNJ11 PIGP SDHAF1 ARF1 MARCHF6 TRNW DOCK7 TUBB3 EDC3 NEDD4L SCN1A CLCN4 SCN1A FRRS1L ADGRG1 KDM5B PCDH19 PTPN23 SCN1A COX2 SCN8A VAMP2 SRPX2 POLG SCN1B RARS1 GRIN1 PLCB1 COX3 CHAMP1 PUS3 SCN8A TMTC3 GRIK2 NDST1 SLC12A3 ZMYND11 GABRA1 MAN1B1 POGZ CRIPT EEF1A2 CDH15 KDM5B SLC25A10 CACNG2 GLI3 SDHD TSC1 SCN2A PIGQ GRIN2A CLCNKB TRNS1 SEC31A TRNH GABRA5 ATP1A2 MTOR HACE1 STXBP1 HCN1 ADRA2B SLC22A5 SCN2A DOCK8 TERT RPL10 YEATS2 TSC1 CNTNAP2 PIK3CA MYT1L PRRT2 PCDH19 SCN2A KIF1A TRIM8 FIG4 NF2 GABRB3 TAOK1 GRIN2A ND1 MARCHF6 TREX1 AP3D1 PPP3CA ND4 WARS2 SUFU GABRD SCN2A PNKP DYNC1H1 POLR3A CACNA1A PI4KA CAMK2A TBC1D24 SMS LMAN2L ZEB2 ERMARD BAP1 KANSL1 GRIN2A TRNQ PIGC MAPK10 ZC3H14 DCPS SMARCB1 SAMD12 FIG4 HNMT CHD2 DMXL2 SCN1B CARS2 CDKL5 SCN2A STXBP1 ZEB2 GABRG2 KCNA1 CDH2 KCNQ3 KIRREL3 TICAM1 SLC25A22 SETD2 SCN1A KCNQ2 LAMA2 MAP1B TMEM231 METTL23 TRPM3 MED23 DMXL2 KCNT1 PCDH19 CAMK2B MICAL1 SIK1 IQSEC1 TRNL1 TLR3 SZT2 RAB11A AP2M1 SCN1B PGAP1 TBC1D24 SCN1B HIVEP2 AKT1 SRPX2 TBCK SLC25A22 GALNT2 TRNF STX1B NHLRC1 CLN8 PRRT2 MED25 TBK1 TCF4 KANSL1 ND5 PURA SRPX2 LINS1 PRRT2 WASHC4 TRAF7 CASK DYNC1H1 EPM2A CYP26C1 TRNS2 CIC C12ORF4 GABRD FMN2 MAP1B TUSC3 SCN1A ADGRV1 DEAF1 GAL RELN MED12L EPM2A SIK1 GNAO1 STX1B PYCR2 SLC45A1 EXTL3 GAMT VPS11 KCNQ3 CRADD TANGO2 GRIN1 CTNND2 ATXN10 GABRG2 TSC2 RELN PRRT2 SET PIGQ CLN8 CUX2 SDHA
Protein Mutations 0
SNP 0

HPO

Alphabetical listing of all HPO terms. Navigate: Correlations   Clinical Trials


HPO Nodes


HP:0001250: Seizure
Genes 2968
MBD5 SH2B1 SMARCB1 PDHX TRNK PRICKLE1 ALDH18A1 MAGEL2 GLRA1 B3GLCT TREX1 GRIA2 TRAPPC11 TRNC DOLK POMGNT1 PLK4 CEP164 PHF21A BRAF EFTUD2 CNKSR2 PEX3 ATP6V1A PSAT1 ST3GAL3 APP ARVCF SIX3 PPP2R1A ND1 WDR11 EFHC1 TRPM6 ANTXR1 GABRA1 ARHGEF9 CNTN2 EDN3 RREB1 PTF1A NOS1AP CDK5 CAV3 OCA2 TUBB4A LETM1 FBXO11 ATXN10 KCNH2 DEGS1 MAFB ELMO2 ERMARD AP4B1 PEX11B PEX6 DNM1L SPATA5 FKTN EFTUD2 KCNH1 RPS6KA3 AARS1 LRAT HRAS POLG TSEN54 AIMP2 BUB1B DMD ERCC5 FLRT3 FOXH1 PEX11B TBC1D20 TPK1 ANKRD11 TARS1 PEX1 CEP290 KCNQ2 GLRX5 SPATA5 BRSK2 VPS13B TBC1D24 BRAF ADNP PNPO RAB18 SEC24C CDK8 TUBB2B TYROBP GABBR2 EXT2 PIK3CA HCN1 TBC1D20 TWNK GCH1 PGAP2 MBOAT7 PEX13 PIGA ATP5F1A TSC2 TSC1 WAC GNS FAR1 VPS53 HMGCS2 GRIN2B AKT2 THSD1 ADD3 GPT2 CRB2 CUX1 ATP6V0A2 MDH2 PRMT7 PC ZIC2 THPO SLC12A6 PIGK GRM1 ECE1 STAG1 GJA1 DNAJC6 ADGRG1 KMT2A PIGT VPS13B PHGDH PRKCD SUFU POMT2 PTCH1 KCNE1 SPATA7 TRRAP PLAGL1 AHI1 KMT2E DALRD3 JRK SCN1A GK EEF1A2 SCN8A RELN IRF2BPL VAMP2 RRM2B MTO1 GLUD1 INTS1 SCN1B COL3A1 PHKG2 NDUFAF6 ATP6V1E1 GRN PEX19 ASPM SMC3 PEX26 PPP1R15B PEX12 ACVRL1 AMACR STX11 HNF4A SDHA ADA2 CNOT1 MED25 ACTL6B SNORD115-1 PRDM8 MADD ERCC8 PPP2R5D SOX3 NDUFB11 CPLX1 MAN1B1 KCNB1 EMC1 MKRN3-AS1 ALDOB GRIN2B SEMA6B PSAP FA2H PEX16 ABCA7 FAN1 SLC25A10 COX10 SLC2A1 HMGCL NTRK2 XK TBC1D24 APC2 NGLY1 GLI2 MAF ANK3 F8 PCSK1 MTOR SMG9 SDHA C11ORF95 MVK KIAA0753 ECM1 PNKP SCO2 MKS1 PUF60 CLCN4 CCBE1 ELP1 AGA TAF1 BTD DHX37 PWRN1 WDR11 POU3F3 GDNF PIK3CA PPP3CA ND4 INTS8 PNKP CPT1A CHRNA7 PEX1 KAT6A LAMA2 FLI1 NRAS DLL4 CACNA1E SCN2A MBTPS2 MCPH1 POLG DISP1 EIF2S3 GRN DOCK6 KRAS ERMARD BAP1 SIX3 PEX12 PEX7 SMARCB1 TRNN SLC19A3 DCX L1CAM INSR LHX4 ALX4 ERMARD MSH6 CC2D2A PEX13 NIN BSCL2 CCBE1 GK SCN2A ZIC2 CACNB4 WDFY3 CDC42 JAM2 TRNK LAMA2 GABRA2 KCNQ1 HMBS ACY1 KCNMA1 MED23 CAMTA1 FGF8 DMXL2 PCDH19 SC5D DPM3 EIF2B3 SHH CNTNAP1 PAK1 SYNGAP1 SIK1 CREBBP WWOX HADH OCA2 XPNPEP3 HSPD1 NODAL CEP57 PEX10 PIK3R2 UBE2A GALNT2 SLC9A6 COG2 RAD21 SLC5A6 EZH2 MED25 SMARCA2 ADAT3 ECHS1 DLL1 SLC35A3 RERE FLNA CASK PTPN22 SLC6A8 PTEN FGF12 EPM2A TRNS2 ALDH7A1 CKAP2L CDON TREM2 PPM1B DEAF1 GAL DLD PLA2G6 COG4 EPM2A SIK1 ETHE1 SSR4 TBC1D23 IL12A-AS1 SNORD118 ENG CIT CDKN1B SLC13A5 CYP2R1 FOXG1 HYLS1 ARX UBE3A KCNQ3 NDUFS4 UGP2 TSC2 RANBP2 WAC PPP2R5D SLC2A1 TACO1 ATXN10 FDFT1 HCN1 AASS SLC2A1 CNKSR2 ATP8A2 WDR73 CARS1 SLC18A3 USP9X PEX1 TRNI CUX2 DLL1 NSUN2 TCF20 EXOSC9 TECR GALC PEX14 SLC12A5 ALDH3A2 PSAP GYS2 FGFR3 SORL1 GNB5 DDOST CUL4B TSFM MEIS2 PRODH WFS1 CLPP POMT2 PMM2 BRAF RPGRIP1L ATP5F1A RPIA TUBGCP6 ATP6AP2 CNTNAP2 NDN PEX5 KCNQ2 NTNG1 AIPL1 CTSA SPOP PGM3 CHRNA7 GBA MBD5 MPL SHANK3 KCNMA1 HIBCH PTS ZEB2 LMNB2 XPA TNFRSF11B MAN1B1 NEK1 TRDN BCAP31 WWOX KATNB1 ATRX SYNJ1 STT3A DPAGT1 HCCS GBA SNIP1 ENG SYNGAP1 CCNQ SATB2 PPP1R15B CLIP1 PSMD12 TSEN54 TP53 AGA LAMC2 CPLX1 SLC9A6 IL17F CEP104 PDHX ZNF592 CNTN2 HESX1 CAMKMT MED12 PIGL SDHAF1 MCCC1 CRBN POMK ALG2 TWNK COQ2 ALG9 ATAD3A GLI2 RNU4ATAC NEU1 MGAT2 PRRT2 EIF2B4 TASP1 PMS1 RNASEH2A TBC1D24 HERC1 HCN1 FKTN MLX GAMT IL17RA CALM2 MCTP2 FARS2 FAM126A TK2 MAGEL2 SYP ATN1 NSD1 DPAGT1 FOXRED1 PLA2G6 NDST1 FBLN1 PEX16 PEX10 SOX10 NOS3 IQSEC2 AP4M1 LNPK C9ORF72 HYMAI TMEM216 CISD2 GSS BUB1B GDF2 PRKAG2 MED12 PEX13 CLCN4 GABRG2 DNMT3A NEU1 MFSD2A ATIC SLC6A8 SERPINI1 FOXH1 KCNJ10 CPS1 NDUFA2 YWHAE GRIN1 PLCB1 COX3 GLRB COG8 MECP2 NDUFV2 LSS FBP1 TMTC3 USF3 CLN6 GCK TREX1 CERS1 XPR1 ACVRL1 HADHB H19 OTX2 NDST1 WAC SIK1 NDUFAF3 NDUFAF2 PRRT2 IL17RD CRIPT PCYT1A UNC80 PEX2 PEX10 RNU4ATAC FA2H PSEN1 GLI2 ADARB1 STX16 CLCNKB PIGB IBA57 CCDC141 TRAPPC9 UBTF SUOX RPGRIP1L IQSEC1 DOCK8 AQP2 RPL10 WDR26 HMBS NAXE GABRB2 PIK3CA UBA1 MYO5A ABCC8 DOCK7 INSR PLAGL1 GAS1 SAMD9 PIGH PSAP ERCC5 SLC33A1 USP18 PTCH1 STAT3 HYMAI COQ6 SLC1A4 SCN10A TREX1 RORB AHI1 COLGALT1 KAT6B MEFV STAG2 ISG15 POLR3A TDP1 POMK KDM3B CCDC88A PI4KA ARMC9 RDH12 ACADM IRAK1 TRAK1 FUT8 PEX12 BDNF COL4A2 ASXL2 KIF11 MSL3 HADHA TSEN2 UBE2A HNRNPK TRAPPC11 HIBCH PIGY ENG TGIF1 IDS CACNA1A AVPR2 MTHFD1 PROK2 SETD2 CTSF CCM2 SMARCD1 SOX2 ND5 ATAD3A PQBP1 TELO2 SHROOM4 JAM2 NUP107 HIVEP2 TP53RK GLRA1 TDGF1 ADNP GLI2 NFASC PEX5 TLR3 FRG1 SCN1B PGAP1 TBC1D24 SIX3 ATN1 LAGE3 KCNJ5 TMEM67 CEP41 VLDLR SASS6 TCF4 SYN1 PRRT2 CLCN2 ABCA2 ATRX ZBTB18 RPE65 RBM10 CC2D2A ADGRV1 MAP1B DPM1 NAT8L FGFR2 SCN1A CASR FOXG1 NFKB2 MED12L ALDH18A1 RPGRIP1 PEX11B LIAS SDHD SLC12A1 NAXD WFS1 HAX1 SELENOI ASAH1 GNAS ALG9 TGFBR3 GAMT CYP27B1 TUBGCP6 SPTBN4 ANKRD11 NTNG1 OSTM1 SLC17A5 ATP6V1A MRM2 NODAL PHF6 SLC6A1 IER3IP1 CHD1 SMAD4 IVD KDM6A CLPB TRNS1 KCNA1 NONO NALCN PIGC RAPGEF2 PIGU WDR45 NODAL TCF4 ND6 PEX6 TRNL1 ARHGAP31 NODAL GNE MEN1 CUL4B KCNQ2 DHCR7 TRAPPC4 DHX30 ZNF711 WARS2 NDE1 NECAP1 TBCE POMT1 PHF6 ARID2 PUM1 ASXL1 KCNMA1 FGFR1 ARX MBOAT7 NDUFAF3 SETD5 CILK1 TRNS2 CPA6 ITPA EIF2S3 TRNP RAB3GAP2 PEX3 NBAS GCSH DNM1 AMACR CTBP1 KCNJ6 TBC1D24 SNX14 MEGF10 ARX HUWE1 SCN8A SOX4 RAC1 SYNJ1 NFIA FGFR2 UBE3A BCOR EPB41L1 VARS1 POMT2 PSAP FGF8 PEX13 GAS1 TRIP13 GDI1 SCN10A CPLANE1 AP4S1 CRLF1 SMARCA2 CAMTA1 CEP290 NF1 NUS1 MYT1L CLEC7A CC2D1A GP1BB GLI3 SQSTM1 CYP27A1 PMM2 GABRD PAFAH1B1 CEP41 DLL1 GRIK2 TXNRD2 GABRG2 IKBKG PTEN FUCA1 PAH ARID1B PDHB RXYLT1 CLTC SLC12A5 RUBCN PIGW CCDC88C PSEN1 TLK2 SIK3 NOTCH1 PMS2 P4HTM PRRT2 SEC23B AP4M1 NDUFS8 CDON SLC2A1 TRPV3 DLG4 PPOX CHD1 SUMF1 SLC3A1 GDI1 BRAT1 CC2D2A PDGFRB PSEN1 PLPBP PTCHD1 SDHAF1 CAMK2A CREBBP TBL1XR1 NPAP1 ESCO2 NEDD4L GJA1 BCS1L MSX2 SCN3A TRNF NDUFB11 DOCK6 PLA2G6 KRAS SLC25A12 KNSTRN ARX PHOX2B CDK19 NDUFB8 KMT2E SLC5A7 BCL10 INPP5E CERT1 ATP5F1D PTPN22 USP7 GPC4 ARHGAP31 MAPRE2 NAGA CHMP2B RMND1 PUS3 COQ5 ZIC2 GBA ROGDI EEF1A2 PEX26 TDP2 ZNHIT3 PDCD10 PEX26 AIFM1 SCN11A ZMYND11 DISP1 TUBB2A SLC35A3 SPRY4 ATP1A3 KCNH1 PEX19 CDK13 CTC1 MED25 FOXH1 AP4E1 KCNC3 YWHAG AIP IKBKG PRTN3 SP110 ARID1A NAGA MED13 FRA16E SLC16A1 GP1BB TRNS1 FCGR2B LHX4 INPP5E CASQ2 GMPPA ABCD1 ATP1A2 AP4S1 KATNIP HCN1 MOCS1 YWHAG DSTYK NADK2 TSC1 PSAP TREX1 GRIA4 ALDOB PROP1 ZNF81 SMARCC2 ND5 IFIH1 KIF1A RPS6KA3 PHACTR1 NDUFS7 PLK4 FGFRL1 PODXL RNASET2 GCDH UGT1A1 AP3D1 SALL4 WDR37 NEDD4L CDK10 GLI3 PEX3 DYNC1H1 TRNF NPRL2 ALDH7A1 WDR62 CAMK2A FADD OTC C4A ACO2 TRNQ TOMM40 DIAPH1 KIAA0586 RAI1 MPDU1 SH2B1 KPTN MECP2 MECP2 LAMC3 SNRPN KDM6B SON FIG4 TRNS1 HNMT PDCD10 TBC1D24 GRIN2B PEX1 SLC25A15 DMXL2 HDAC8 LGI4 EPRS1 GRIN2D MFF KCNQ3 ASPA TRAPPC11 PRMT7 KCNQ3 ERCC2 JRK PRF1 FKTN MAP1B TBK1 SCN4B GBA TREM2 SMARCA4 GM2A MSH2 DHCR7 MMACHC KDM5C PIGG SDHB CAMK2B GMPPB SLC35A1 AMER1 GBA SPP1 KIF7 MYH3 KCNJ13 TBCD FGFR3 FOXP3 KIF5A TRNK PPT1 PLEKHG2 AKT1 TRNF THOC2 PEX5 NUS1 SOX5 BCKDHB SARS1 KANSL1 CEP120 PURA HMGCL SATB2 ACP5 TRAPPC12 DNM1 KAT8 TUSC3 ZFP57 CARS2 ALG13 PLAA PTH PCNT OFD1 TET3 KLHL7 CLTC CDON TYROBP ACTG1 PIGA NNT OTUD6B VCP EARS2 WDR26 CRX KCNB1 KDM6A DBT HS6ST2 SLC45A1 DEAF1 STRADA DPM2 PSMD12 STXBP1 SLC35C1 CLN5 ASXL3 PWAR1 SLC1A4 TRIP12 NUP133 TCF4 AGRN ALAD TGDS ERCC4 TMX2 SCN8A ASNS KCNMA1 FAM111A GLUD1 OCLN PEX16 NIPBL MTM1 SMAD4 LIPT1 LAMB1 TRNL1 FGFR1 HECW2 SETD2 PRODH TBR1 CDH15 LRP2 PHF21A ZIC2 B3GALNT2 ARSA NNT MANBA LINGO1 MID2 FLVCR1 NUBPL FA2H CDKN2C PIGN NDUFA10 MED12 ND2 SLC13A5 NHLRC1 UFM1 ADAT3 PSAP PPA2 CPOX APC2 TRAF7 KIF7 ADPRS PRNP PDE10A NSMF ARID1A CRLF1 TBX1 NSD1 ARG1 KCNN3 AIFM1 SMC1A PIEZO2 LMNB2 CREBBP FGFR3 TMEM237 CDH23 NDUFS7 PDGFB EML1 PDE6D ATP6V1A TMEM231 TBX1 ERCC6 MTFMT SLC19A3 EPCAM MECP2 PEX14 PGAP3 IL10 TULP1 GABRB3 NDUFS8 DEPDC5 GCK SCN9A SDHD EHMT1 ATP1A2 STRADA TRNF WASF1 NDUFAF5 NDUFB11 FOXP1 FUCA1 SDHB RNASEH2C NSD2 ROGDI FH NLGN3 ARFGEF2 NOTCH3 SYN1 PEX5 XPR1 PEX19 TUBG1 CRADD PDHA1 SMARCE1 CRBN ATP6V1A MPDZ NADK2 ARV1 POMGNT1 PERP COL1A2 FAM149B1 TRAPPC9 ND6 SIK1 ASL HESX1 SLC25A19 LGI1 AVPR2 TGIF1 NEUROD2 TRAF3IP2 ARFGEF2 TBX1 IDS KPTN ZNF41 KISS1R SSR4 MYH14 PIGP HNRNPU DDX3X TRNS1 STEEP1 ALG2 TRIM71 GABBR2 ASXL3 CIC TRAPPC6B DNMT3A CTSA GUF1 CPT2 EIF2B2 ATAD1 SC5D KCNJ11 SCN1A SUCLA2 IL23R COX2 COQ2 KCNC1 SRPX2 OFD1 TRAK1 POLG TSC2 RAI1 CHAMP1 PEX12 GAD1 HADH SCN8A TUBA8 CHD2 FGF8 GRIK2 SNRPN PROKR2 NDP STT3B CAMK2A TCF4 FADD TANC2 COL3A1 ATP1A1 CYFIP2 VARS2 TIMMDC1 EIF3F GCK POGZ TCTN3 KDM5C GLI3 SDHD SLC19A3 MANBA TAT SLC25A13 TDGF1 SMARCE1 POU3F4 SEMA3A HACE1 PARS2 LRPPRC IREB2 LIPT2 TERT ACOX1 MVK PPP3CA CACNA1D B4GAT1 PEX26 WDR45 GNB1 LAGE3 MOCS2 EHMT1 NF2 PURA NF2 DYRK1A GABRB3 TUBA8 HEXA NDUFS1 FAS SAMHD1 TBC1D24 PTEN TGIF1 CLP1 ARX MLC1 TRNK PCLO GABRD ABCC8 SCN2A FMR1 TPRKB TWNK ELOVL4 HGSNAT OAT TBC1D24 GNAQ MYO9A CYFIP2 KCNA2 LMAN2L SRD5A3 FRMPD4 IFIH1 FTO KCNJ11 CLPB COL13A1 GNAS TWNK OSGEP ATP6V1B2 SETD5 POMGNT1 CCR1 CRPPA HK1 UQCC2 COX2 EIF2B1 OFD1 GPR161 MED12L DYRK1A POMK PEX2 SCN8A FAS UPF3B CDH2 KIRREL3 UPF3B DUSP6 DHDDS OTUD6B POMC TRNT1 EFHC1 TGFB1 NDUFA9 HCFC1 CLN6 NPHP1 ANKH TECPR2 GLS GPHN NRAS ERAP1 ERCC6 ZDHHC9 FARSB RAB27A SLC1A2 PACS1 FCSK SZT2 RALGAPA1 ST3GAL3 ANK1 NIN JAK2 GLI3 PHOX2B FTSJ1 LYST GBA SLC25A22 LETM1 STX1B COX4I1 PGAP1 CLN8 NEUROD2 HERC2 IGF2 MBTPS2 HPRT1 ATIC GNAQ GNAS KLRC4 DNASE1 PREPL ACADM TRAPPC2L FAR1 PROKR2 FMN2 PIGN IQSEC2 TBL1XR1 NLGN4X IDH2 MVK DLK1 GUCY2D GM2A NDUFAF8 GNAO1 BCORL1 NTNG2 GTF2E2 KLHL15 SYNJ1 CSNK2B SGSH KCNT1 RNU12 TRAPPC4 VPS11 CACNA1B MED12 CDKN1A ALG1 TXN2 CRADD KIFBP TANGO2 GRIA3 GRIN1 MIPEP GP1BA PEX1 GABRG2 ARHGEF6 COX3 COX7B ERCC3 DYNC1I2 ACOX1 KCNAB2 CTNS ANGPTL6 TRIO SPR PAH OSTM1 DISP1 ANKLE2 EZR GABRB1 NTRK2 CDKL5 ACSF3 KMT2D SPG11 SLC6A5 NOTCH2NLC EEF1A2 PET100 KCNA1 CLTC PEX3 FEZF1 IARS1 ERCC6 MAGEL2 MC1R SLC2A1 TRNK NDUFAF4 C12ORF57 IQSEC2 AMT TECPR2 SLC9A7 KRAS PIGY KIF2A RAB39B ATP2A2 FRMPD4 D2HGDH MGP TRDN SPINK5 NHLRC2 NGLY1 GNAS PGAP2 LARP7 STARD7 STAG1 RYR2 CCND2 UCP2 RPL10 CEP85L CTNNB1 ANO10 WDR45 PACS1 NELFA NAA10 NTRK2 FDXR NLRP3 KCNJ11 STXBP1 PAX2 ND1 FXYD2 ATP1A3 PIK3CD ARSA ASS1 USP9X POLG PSAP AIMP1 HLA-DPA1 GUCY1A1 SETBP1 ATP10A MSX2 SVBP ADAM22 CPS1 ATP6 DCX FKRP PURA GPC1 CYP27A1 PROKR2 EBP ARHGDIA SIM1 L2HGDH SCN1A NACC1 ROBO3 SDHA NF1 PHGDH ACTL6B RAC3 TREX1 ATP6V0A2 MYO5A MORC2 STT3B POLG2 MEF2C SCN3A TRAF3 SLC19A2 ATN1 MTHFR HLCS CD96 SATB2 KIF5C ERCC8 HLA-DPB1 DLD PEX2 VPS11 CFHR1 FOXH1 CLCN4 GABRA5 SURF1 MECP2 KMT2C SLC25A20 SERAC1 HRAS AKT1 RNR1 TSC1 MEN1 TRMT10A NIPBL ACOX1 ARX SLC1A2 MBD5 ATP6 PTRH2 KMT2A CCDC115 GAS1 PROP1 METTL23 SLC13A5 ACTB TRNW B4GAT1 FBP1 CTLA4 TUBB3 PDE4D MRAP ADAMTS3 SOX10 ERCC3 DNM1 CBS NCAPD3 DAG1 KDM5B COG8 CDH23 FGFR2 ISCA1 CDON CLN3 FKTN DPM1 TPP1 KCNJ1 FGFR1 ASPA PHACTR1 VPS51 DISP1 ATP6AP2 LSS MFSD8 TMEM70 NDUFAF6 SPTAN1 STAT2 GABRA2 ARL6IP6 CHD2 CYP27B1 GALC ERCC1 LIG4 FKTN NF1 PDGFB GYS1 FAS NAGS PAK3 RTTN TCIRG1 KCNA2 EEF1A2 CDH15 DPYS TDGF1 KDM5B PSEN2 TMEM216 CACNG2 NFIX FTSJ1 RFT1 COX15 PCDH12 SLC35A2 CNPY3 FGF8 CDKL5 POMT2 COX1 STXBP1 ABCC8 CTLA4 FLI1 MAPK8IP3 MMADHC DPYD GPHN PRRT2 ARSA ERCC2 WDR4 AP4B1 EXT2 ROBO1 GTPBP2 KMT2A MTRR CYB5R3 STXBP1 IPW ASCL1 GATA6 DIP2B ARNT2 HTRA2 AP2M1 CHD8 CNPY3 GTPBP3 AUH FGF8 SNRPN SLC45A1 STAG2 LMX1B KCNA2 ADSL HNF1A L1CAM LONP1 ZC3H14 DCPS SAMD12 KIF1A HTT SLC25A15 KCNJ10 CXCR4 ERCC8 UNC80 PGAP3 ACADSB MEFV COQ9 GJC2 WDR81 KCNQ2 SUCLA2 RNASEH2B GABRG2 GRIN2B SLC44A1 KCNA1 NOTCH3 TICAM1 HERC2 CYTB MAF TRPM3 CTNNA2 ALG3 ABCC8 TUBGCP4 CASK NPC1 FTL POMC EFHC1 FAM111A NDUFS2 DBH ALG6 NDUFS1 UBA5 MMAA AP2M1 CALM3 PEX6 ZFYVE26 GUF1 FARS2 ATP7A HTT ZIC2 RNF213 NPC2 PRRT2 PIGV ALMS1 HTT FGF8 LINS1 KDM6A GPC3 DHDDS FRRS1L PEX14 DYNC1H1 CYP26C1 FKRP MAGEL2 SYNGAP1 PQBP1 COG5 ETHE1 DNASE1L3 RASGRP1 GRM1 CHD7 CCDC141 NSDHL PROC KLLN IARS1 OTX2 ZNHIT3 STX1B DHFR GAS1 FBXW11 SCN2A ACTA2 PTCH1 ATP6AP2 STUB1 EPG5 GLI2 LBR NDE1 HIC1 ARID1B ZBTB18 BRAF BCOR FLNA IL12A CPA6 MMUT CLDN16 IQSEC2 POLG2 IL17RC PRRT2 GNAQ SCYL2 ALG11 SMARCA4 KIAA1109 SET CLP1 PIGM XPC PMPCB MKRN3 CD96 L1CAM PNPLA8 ATAD3A TXN2 NDP ECM1 EIF2B5 ADGRG1 OTX2 FMR1 PLP1 VAMP1 PAH RTL1 IQCB1 CAMK2B MYO5A TWNK PROKR2 PLPBP POLE NECAP1 FGFR3 TBCE SCARB2 ASH1L UPB1 GABRA1 PIGL CACNA1A SLC2A1 MDH1 PEX10 WDR73 SLC46A1 DHPS JMJD1C RSRC1 KCTD7 CPT2 GLI2 BUB1 ERLIN2 TMEM106B GMPPB CILK1 SHROOM4 NRXN1 KCNT2 IL12B OCLN SLC2A1 GEMIN4 UFC1 ALG3 TMEM237 TNIK TBX1 PIGT STAMBP TMLHE KLF13 FKRP KAT6B FLNA HCCS NOTCH1 FOXA2 MPLKIP STXBP1 KCNK4 CDH11 GLDC TIMM50 PLAA MADD GCDH ADA2 PEPD MYT1L BMP4 GTPBP3 CTSD KRAS CCM2 TRMT10A PTCH1 DARS2 EP300 GNAO1 CDC42 CDKL5 TANGO2 SNX14 AKAP9 PIGO STAT4 COL4A1 RHOBTB2 BPTF KCTD7 SIN3A GNB1 SLC6A19 TBCE SMARCB1 SNRPN SOX10 KCNMA1 BRAT1 NSUN2 ARX ZMIZ1 ANK2 WDR4 RNF113A HNRNPK MBTPS2 PRSS12 FASLG NDE1 ALDH4A1 SLC39A8 PNPO TAF1 ATRX DOCK7 RAB39B DCC SMARCC2 DEAF1 NSDHL SCN1A PLA2G6 TUBB3 PSAT1 ADGRG1 PSMD12 ATP6AP1 PCDH19 MLH1 HEPACAM POGZ GABRA1 IMPDH1 PIK3R2 IQSEC2 BPTF LAS1L PPP2CA RARS2 LONP1 GRIN2D ARCN1 PIGV HESX1 BCOR POLG CLCN2 ARSA SLC12A3 ARX GYS2 NEU1 GABRA1 MACF1 TGIF1 SETBP1 ATP1A2 CFH UBE3A ERLIN2 CPLANE1 PEX6 ZMIZ1 HDAC4 TSC1 SCN2A PIGQ TP53 MPDU1 ATP1A3 AKT2 GOT2 CHRNA2 ATR MYO1H SETD1B RPL10 CACNA1A CNTNAP2 CLIC2 GABRD SEMA4A HTT GABRB3 SCN2A EHMT1 TRIM8 RAB11B FIG4 LAMB1 MKS1 DOCK3 TRNS2 SMS SETBP1 SURF1 TFAP2A MC2R NDUFA1 UFD1 GDF6 ARL13B ASAH1 DHX16 HNRNPH2 CENPE GLS DNAJC6 GBA MECP2 SHANK3 GCM2 ATRX FLVCR2 SNTA1 CACNA1A LAMB3 SMS ERCC6 ACTL6B KMT5B KANSL1 GRIN2A PTCH1 EIF2AK3 SCN1A NR2F1 POMT1 ARV1 RAB18 SLC1A3 PLCB1 DNAJC19 TDGF1 ATP13A2 SEPSECS TRAPPC12 PEX5 FGFR1 CUX2 CHD2 RAI1 NDUFS2 BCKDHA MYRF CDKL5 PHKA2 HTRA1 STXBP1 CPT1A ZEB2 PIGO SMC1A PIBF1 PCCB SCN1A SPTAN1 KCNQ2 LARS2 SIX3 NALCN OCRL GPHN CTU2 METTL23 PEX16 HSD17B10 SMC3 PDX1 PEX19 MICAL1 IQSEC1 DIS3L2 TLR3 PRNP RAB11A DLL1 RBPJ HIVEP2 SHH CPT2 DPH1 TMEM94 PIGG TBCK ADAR MTRR HDAC8 MLH3 ITGB6 TSEN15 COL4A1 SRPX2 STAG2 GFM1 COL18A1 ALG13 BUB3 ALDH5A1 AQP2 STT3A KIF1A NSD1 BOLA3 C12ORF4 GABRD TRIP13 MEG3 TREM2 KMT2C DDX3X ADGRV1 NARS2 BCR PIGS RSRC1 RNF125 PSPH SCN3A GLB1 AHDC1 ABCC8 CNNM2 SNAP25 CENPJ DLL1 LAS1L EXTL3 CHRNB2 DHDDS COMT EXOSC3 SLC25A42 MYORG KAT6A AAAS ARX EMG1 CDK19 NECTIN1 PDSS2 RELN RAB27A L2HGDH LARGE1 FCGR2A RPS6KA3 YEATS2 IRF3 AUTS2 CYTB TMEM67 ABCD1 ADAMTSL2 FOLR1 IL1RAPL1 GRIA3 MTHFS OCA2 LHX1 TGIF1 PIGN PROK2 TRNH PAFAH1B1 INPP5K GNE APP PCYT2 ALG13 ACADS ATP6V0A2 NSUN2 AGTR2 EPG5 ERCC6 PRPS1 DDB2 CASK CNNM2 KIF11 SHH ARID1B CACNA1C ARL3 GABRG2 MTOR HACE1 OSGEP LAMA3 POMGNT1 SHH PRKDC MED13 RORA ACSF3 ARX SLC1A3 GJC2 SAMD12 AKT1 LMBRD1 TTR AARS1 PDSS2 NDUFA2 NDUFAF2 KCNJ11 CTNNB1 CEP120 AIMP1 PTEN CPT2 CPLX1 NDN AP3B2 RAB39B DLL1 RAB39B PRDX1 KCNQ5 TGFBR2 PRPS1 FKRP MTR MECP2 SPAST GPAA1 GRIN2A SLC13A5 IFT140 KCNE1 HIRA ACTG1 SVBP B3GALNT2 ARMC9 HOXA1 BAP1 STXBP1 MEN1 COX1 CSPP1 HSD17B4 SIX3 FOXG1 EXTL3 MCCC2 THOC2 MEF2C PET100 MOGS ACTB SOX11 MSX2 GNB5 EGF USP9X ND4 CKAP2L GABRG2 POLG PTS SCN9A MLYCD CHKB SON HESX1 ACTL6B RANBP2 NRAS GABRB2 TRNL1 KCNQ5 PCK1 NOTCH2NLC AKT3 HPDL GFAP NRAS DNAJC5 PEX2 MRPS22 FRRS1L OPHN1 PCCA QARS1 TDGF1 NTRK2 HNRNPU PACS2 GLA HSD17B10 TRNW ST3GAL3 NF1 NPRL3 RARS1 SHH RUBCN ADSL CASK TRNV TANC2 NUS1 SYNGAP1 NEXMIF DENND5A NFIX TRNL1 SLC12A3 GALC RNF13 OCRL SLC17A5 TOE1 FGFR2 SLC25A4 NAGA MGP SCN5A ARG1 GBA TMTC3 TSPAN7 SLC35C1 ARX TSEN54 SLC35A2 VPS13A AHSG NDUFA12 ADK GRIN2A SLC25A20 POU1F1 TRNH AKT3 GABRA5 AMPD2 SNRPN ADRA2B SLC22A5 FGF17 SCN2A DEAF1 CNKSR2 USP45 FGFR1 STAR TRMT1 HUWE1 PDP1 DNM1L UBE3A AFG3L2 EGF MAST1 GNAS TAOK1 GATA6 SIN3A POMGNT2 JAM3 GRIN2A ND1 CBS MARCHF6 KMT2D DLG3 TBCK WDR73 SUFU NF2 MICOS13 ACAT1 CASP10 KIF4A PAK3 ZSWIM6 GATA3 APP CNOT1 DALRD3 SPR ZEB2 TRIO CHN1 QDPR GLE1 PIK3R2 EBP PGK1 KCNH1 MED12 SLC2A3 PLP1 RAC1 FGFR3 KIF15 TRNQ SLC20A2 MECP2 SLC25A22 ND3 CACNA1H CLCF1 PDHA1 TNFRSF11A TMEM231 GLA FBXL4 ASXL1 LARS1 GMPPB KCNT1 MED17 NSD2 HS6ST1 DPF2 HADH PIK3CA SCN1B AP3B2 DDX6 APP RELA SRPX2 PTCH1 CA8 GPAA1 NHLRC1 SYP ZSWIM6 NDUFV1 WASHC4 TRAF7 GJC2 CDON ST3GAL5 RNASEH2A CIC ODC1 FGFR1 POLR3A GPT2 TWIST1 NDUFA13 GABBR2 BCORL1 PIGW NDUFA4 ACSL4 FOXH1 COG7 SCN2A NEK9 STS COG4 ABCC8 MID2 PAFAH1B1 MPC1 TBCD PSAP ABAT ALDH5A1 COX8A GP9 PTEN PYCR2 GATAD2B NACC1 TBCE NUP214 ASH1L DISP1 TCTN2 TACR3 TBCE GLYCTK TSC2 PEX14 KANSL1 NOVA2 TRNP EIF2AK2 MAPK1 IFNG NDUFS3 HNF1B FASTKD2 NDN ND5 TCF20 COG2 IDS PANK2 MC2R FAM149B1 DPM2 OPHN1 NAGS OCA2 FLCN ALG11 NANS DYRK1A RPS20 ARNT2 HLCS LYST NDUFA11 SMO NONO SNRPN CSTB SCN9A AFG3L2 CASQ2 SLC25A1 ZNF142 MAN1B1 IL1RAPL1 SLC39A8 ATM PTRH2 POLG ZNF423 FMN2 UGDH FAM111A TUBB2B PSPH CTH PIGL FGFR1 RD3 NDUFB8 CACNA1C SCN9A NDUFS6 FBXO31 ABCA5 ACY1 B9D2 COQ4 VPS13A ARHGEF9 BMP2 ZBTB20 CSNK2B TBX19 HERC1 DNM1L METTL5 POMT1 GRIN1 TUBB2B NEXMIF CSNK2A1 MTOR SARS1 GATA4 TRAPPC9 SNORD116-1 TMEM165 CAD MN1 POLR2A NDUFAF5 SGPL1 GRIN1 RRM2B KRIT1 CDKL5 SETD1A POLA1 SMARCB1 TRNT PPP2R1A SURF1 CALM1 SIX3 TWNK UNC93B1 TP53 SMPD1 PRUNE1 BSCL2 B3GALNT2 PSMB8 STAG2 CRKL LMAN2L CACNA1D ATM CDKN2B KRIT1 SZT2 CHRNA4 CLN8 SLC2A1 KCNQ3 COL18A1 RPS6KA3 MRPL12 MMACHC GOSR2 TCTN1 CDON SRPX2 NMNAT1 KCNJ11 NDUFV1 SMC1A FOXRED1 AVPR2 ARF1 OPA1 MARCHF6 CACNA1B COG6 TRNQ BCL11B GABRB3 PRDM16 EDC3 UBE3A ADGRG1 ACTL6A HEPACAM TK2 ZIC2 VLDLR UBE3A PRRT2 ERCC2 PTPN23 TRIT1 LARGE1 EXT2 HADHA ALX4 USP27X UBTF GPSM2 TUBA1A NUP133 KCNJ6 RERE MAPT CEP290 ZC4H2 SKI TMEM237 ASPA LAMA2 PIK3CA LARGE1 DCC PRDM8 EOGT ANKRD11 ALPL TRNW SMC1A POMT2 KCNE2 SLC46A1 MTFMT RTTN CHAT SDHC SEC31A KRAS TLR4 TBCE COX7B SLC25A1 RAB3GAP1 PTCH1 KCNH1 TBX19 B3GALT6 YEATS2 MYT1L FAM50A GLI2 PDHA1 GAS1 PCDH19 CSF1R TBP COQ8A NIPA1 SLC6A1 AP4E1 ANOS1 ANK3 SMARCE1 LCA5 SET ATP7A GLUL KCNQ1 TMEM106B PEX6 SLC6A19 MAGEL2 WARS2 EBF3 DGUOK STAT4 FITM2 WWOX GTF2H5 TRNV FAT4 LRP2 CYB5A TSEN54 ALDH3A2 PIGC ALG1 MOGS MAPK10 PIGP UBA5 RELN COQ8A UBAC2 MAP2K1 SCN1B NIPA1 SCN1B CARS2 PARS2 TMEM138 PHOX2B BMPR1A MMADHC RBM8A ARF1 ALKBH8 CFHR3 MTHFR NDN TMEM70 SLC12A6 POMT1 TDP2 BCKDK CACNB4 DHCR24 CREBBP SMPD4 ALPL SNAP29 NKX6-2 RECQL4 AUH NAGLU TRNL1 RET TRMT1 TDP1 PEX5 NRROS SNRPN AKT1 ACVR1 RERE TP53RK ARX ERLIN2 TBK1 ND5 GNAO1 SYT2 NDNF HSD17B10 PPP3CA B9D1 WHCR DLG3 GFM2 HPD NAA10 STXBP1 SARDH ND6 IVD HLA-B FGFR3 EP300 MAGEL2 GMPPB NDUFS4 MFF HCFC1 INPP5E GMPPB RELN SETBP1 TRAPPC11 CRB1 MECP2 NODAL GRM7 ATAD1 VDR ERCC4 PYCR2 RFT1 HDAC8 USP7 TREM2 ATP6V1B2 CTNND2 FLII CLIC2 CPT2 ATP6 ABCC9 DHCR24 COA8 CLTCL1 TOE1 TMEM67 AP1S2 RLIM NEU1 ASAH1 PIGQ CLN8 INS HLA-B FGF12 BTD SDHA
Protein Mutations 1
A147T
HP:0002069: Bilateral tonic-clonic seizure
Genes 341
TRNK TXN2 ND6 KCNA1 CLTC SLC12A5 TRNL1 PCYT2 ALG13 GRIA2 TRNK KCNQ2 AGTR2 ZNF711 TRNC SLC9A7 FA2H FRMPD4 CSTB SCN9A ND2 NHLRC1 AFG3L2 KCNMA1 ZNF142 ARX IL1RAPL1 PGAP2 APC2 STARD7 ASH1L TRNS2 ND1 CPA6 CEP85L EFHC1 GABRA1 PSPH SAMD12 KCNJ11 KCNQ2 NSD1 DNM1 PDSS2 SCN9A MBD5 ND1 KCTD7 TBC1D24 TMEM106B CILK1 ARX SCN8A DNM1L SLC2A1 MECP2 PGAP3 NEK1 PIGT CSNK2B EPB41L1 HERC1 DMD RAB39B GCK KCNQ5 ATP1A2 PRPS1 GBA STXBP1 SYNGAP1 SCN1A CPLX1 CNTN2 PHGDH SPATA5 MED12 PIGL BRSK2 SETD1A SQSTM1 PDHA1 TBC1D24 COQ2 GABRD COX1 FOXG1 GABRG2 CACNA1D THOC2 CDKL5 MTHFR TBC1D24 SLC12A5 ND6 PIGO SIK1 KCNQ3 CLCN4 SLC25A19 LGI1 GRIN2B ND4 GNB1 GABRG2 GPT2 NEUROD2 KCNMA1 SCN9A SYP SLC2A1 CUX1 GDI1 ZNF41 KCNJ11 PSEN1 PIGP HNRNPU PTCHD1 STEEP1 MARCHF6 TRNQ TRNW ADGRG1 C9ORF72 BUB1B GABRB3 SCN1A CLCN4 SCN1A KDM5B GABRG2 PCDH19 JRK SCN1A COX2 GABRA1 TRNW VAMP2 SRPX2 USP27X POLG SCN1B CERT1 GRN GRIN1 COX3 CHAMP1 ATP6AP2 LONP1 TRNV CHMP2B PUS3 SCN8A COQ5 CERS1 CHD2 CLCN2 MAPT RNF13 ZMYND11 GABRA1 GYS1 WAC TSPAN7 EEF1A2 CDH15 TRNW SP110 VPS13A CACNG2 FTSJ1 SCN2A GRIN2A TRNS1 TRNH GABRA5 COX1 HACE1 STXBP1 HCN1 SLC22A5 SETD1B SCN2A DOCK8 RPL10 WDR26 MYT1L ABCC8 ZNF81 ND5 PCDH19 SCN2A KIF1A CACNA1D TRIM8 FIG4 UBE3A AFG3L2 DYRK1A GABRB3 STAT3 TAOK1 TUBA8 GRIN2A ND1 AP3D1 PPP3CA DHX16 RORB ND4 GABRD SCN2A PNKP DYNC1H1 AP2M1 TRNF PAK3 SCN2A CAMK2A ACADM GRIN2A TRNV TRNQ LAMC3 MAPK10 TRNS1 COX2 CHD2 SCN1B NIPA1 DMXL2 TRAPPC11 SCN1B SCN2A PIGY KCNQ3 STXBP1 GABRG2 ASPA CACNB4 UPF3B KIRREL3 JRK ND3 SETD2 CACNA1H CYTB ND5 GPHN EFHC1 TRPM3 KCNMA1 HCFC1 CACNB4 PCDH19 EFHC1 PDX1 CAMK2B MICAL1 TRNL1 RAB11A AP2M1 SCN1B TBCD HIVEP2 PIGG SLC25A22 TRNF GPAA1 STX1B SLC9A6 NHLRC1 CLN8 PIGV TCF4 ND5 PURA SRPX2 DLG3 CLCN2 ALDH5A1 STXBP1 CASK SARDH ND6 ST3GAL5 EPM2A TRNS2 CIC ALDH7A1 GABRD ADGRV1 IQSEC2 TREM2 PIGW ADGRV1 DEAF1 ACSL4 RELN MED12L EPM2A MID2 SIK1 GNAO1 VCP STX1B PSAP ALDH5A1 SCN2A COX8A PYCR2 GAMT ATP6AP2 DHDDS KCNQ3 LBR SLC1A4 TANGO2 GRIA3 GRIN1 GABRG2 ARHGEF6 COX3 TMX2 ATP6 SLC2A1 CLTCL1 CNKSR2 SLC6A1 RPS6KA3 YEATS2 PRRT2 SET USP9X ASAH1 PIGQ CLN8 INS CUX2 TRNL1
Protein Mutations 0
SNP 0
HP:0002197: Generalized-onset seizure
Genes 420
EZR CDKL5 ACSF3 TRNH TRNK PRICKLE1 KCNA1 CLTC PCYT2 ALG13 NSUN2 AGTR2 ZNF711 SLC9A7 FRMPD4 KCNMA1 ARX NGLY1 ST3GAL3 MBOAT7 HACE1 CILK1 ND1 CEP85L MED13 EFHC1 GABRA1 ACSF3 ANO10 CNTN2 TRNP SAMD12 KCNJ11 DNM1 PIK3CD TBC1D24 ARX AIMP1 DNM1L CPLX1 EPB41L1 DCX DMD RAB39B KCNQ5 GDI1 SCN1A TARS1 SMARCA2 NUS1 PHGDH CC2D1A SPATA5 BRSK2 TBC1D24 GABRD PAFAH1B1 GABRG2 MBOAT7 PIGA MTHFR SATB2 CLCN4 GRIN2B ND4 GABRG2 SCN9A CUX1 SON RNR1 GDI1 PTCHD1 SDHAF1 TRNL1 ADGRG1 FRRS1L KDM5B TRNF JRK SCN1A KNSTRN SCN1B MFSD8 TRNV COQ5 CHD2 TRNL1 PRDM8 ZMYND11 MAN1B1 GBA TSPAN7 EEF1A2 CDH15 KDM5B CACNG2 FTSJ1 PCDH12 XK TBC1D24 APC2 GRIN2A CDKL5 GABRA5 STXBP1 HCN1 ADRA2B SCN2A PSAP PRRT2 ZNF81 ND5 KIF1A UBE3A AFG3L2 BTD TAOK1 MARCHF6 PPP3CA PNKP DYNC1H1 AP2M1 PAK3 CAMK2A GRN ZEB2 ZC3H14 DCPS SAMD12 HNMT SLC25A15 SLC25A15 DMXL2 SCN2A TRNQ KCNQ2 KCNQ3 GABRG2 CACNB4 KCNQ3 JRK SLC25A22 ND3 CACNA1H LAMA2 TRPM3 KCNMA1 MED23 PCDH19 DPM3 FTL EFHC1 CAMK2B SIK1 GBA AP2M1 SCN1B TBCD TRNK SLC9A6 NHLRC1 ALMS1 MED25 KANSL1 PURA LINS1 WASHC4 SLC35A3 CASK EPM2A CIC ALDH7A1 GABBR2 TUSC3 SYNGAP1 DEAF1 ACSL4 EPM2A MID2 SIK1 STX1B DHFR ALDH5A1 COX8A SLC45A1 ARX GATAD2B STXBP1 ATXN10 TMX2 SLC2A1 KCNMA1 CNKSR2 GLUD1 TRNP PRRT2 SET PIGM ND5 COG2 USP9X TRNI CUX2 TRNL1 TECR DPM2 OPHN1 B3GALNT2 GALC SLC12A5 PLP1 NUBPL CSTB SCN9A ND2 NHLRC1 AFG3L2 IL1RAPL1 APC2 SCARB2 ASH1L PTRH2 GABRA1 KCNQ2 NTNG1 NSD1 GBA SCN9A MBD5 RSRC1 FGFR3 KCTD7 KCNMA1 FBXO31 CILK1 KCNT2 MECP2 ARHGEF9 TNIK PIGT CSNK2B GCK EHMT1 GBA TRNF MPLKIP STXBP1 SYNGAP1 NEXMIF MTOR CLIP1 SDHB SARS1 CPLX1 SLC9A6 TRAPPC9 PLAA MED12 CRBN ATAD3A SMPD1 PRRT2 CDKL5 HCN1 TRAPPC9 SIK1 SLC2A1 KCNQ3 KCTD7 NEUROD2 TK2 BRAT1 SYP GOSR2 RNF113A HNRNPK ZNF41 PRSS12 NDE1 PIGP STEEP1 LNPK DOCK7 BUB1B GABRB3 EDC3 SCN1A CLCN4 SCN1A PRRT2 GABRG2 ERCC2 PCDH19 TRIT1 GABRA1 KCNJ10 USP27X GRIN1 PLCB1 CHAMP1 SCN8A CHD2 GRIK2 CLCN2 CAMK2A NDST1 GABRA1 ATP1A1 WAC ASPA TRNW RNU4ATAC SDHD SEC31A HACE1 SETD1B DOCK8 RPL10 YEATS2 WDR26 CNTNAP2 MYT1L ABCC8 PLAGL1 GABRB3 PCDH19 SCN2A TRIM8 SLC6A1 PSAP TRNS2 DYRK1A GABRB3 STAT3 NDUFA1 HYMAI TREX1 RORB TRNK GABRD SCN2A ELOVL4 SMS LMAN2L KANSL1 GTF2H5 GRIN2A PIGC MAPK10 RELN CUX2 CHD2 SCN1B HNRNPK SCN1B CARS2 CDKL5 STXBP1 ZEB2 UPF3B KIRREL3 SETD2 SCN1A KCNQ2 GPHN METTL23 EFHC1 HCFC1 CACNB4 PDX1 IQSEC1 SZT2 RAB11A SCN1B PGAP1 HIVEP2 SLC25A22 STX1B TCF4 GNAO1 SRPX2 DLG3 CLCN2 ALDH5A1 STXBP1 ND6 C12ORF4 GABRD FMN2 ADGRV1 IQSEC2 ADGRV1 NFKB2 MED12L GLB1 MECP2 GNAO1 GTF2E2 ASAH1 EXTL3 GAMT DHDDS CRADD TANGO2 GRIN1 CTNND2 GABRG2 ARHGEF6 OSTM1 ATP6 ERCC3 SLC6A1 IER3IP1 RPS6KA3 TRNS1 NEU1 ASAH1 PIGQ INS SDHA
Protein Mutations 0
SNP 0
HP:0007359: Focal-onset seizure
Genes 322
EZR CDKL5 ACSF3 PNPLA8 TECR OPHN1 ND6 KCNA1 CLTC B3GALNT2 PCYT2 GRIA2 KCNQ2 NSUN2 FA2H SMO SCN9A NHLRC1 ARX NGLY1 ST3GAL3 MBOAT7 APC2 ASH1L CPA6 CEP85L FMN2 CNTN2 GABRA1 PACS1 KCNQ2 NSD1 DNM1 PDSS2 SCN9A MBD5 RSRC1 KCTD7 PDGFB TBC1D24 FBXO31 AIMP1 DNM1L ARHGEF9 TNIK CSNK2B EPB41L1 DCX KCNQ5 FLNA STRADA TUBB2B STXBP1 SYNGAP1 MTOR SCN1A CLIP1 AP4S1 SDHB SARS1 CPLX1 SLC13A5 TRAPPC9 NF1 CAMTA1 CNTN2 PHGDH CC2D1A SYN1 BRSK2 TBC1D24 COQ2 SMARCE1 PAFAH1B1 BAP1 COX1 UNC93B1 CRBN FOXG1 GABRG2 TRAF3 PRRT2 CACNA1D CDKL5 MBOAT7 TSC2 MTHFR TBC1D24 SLC12A5 CHRNA4 KCNQ3 LGI1 PRRT2 GRIN2B GNB1 NEUROD2 KCNMA1 SCN9A BRAT1 CUX1 ARFGEF2 SRPX2 PRSS12 KCNJ11 PIGP SDHAF1 ARF1 MARCHF6 TRNW DOCK7 TUBB3 EDC3 NEDD4L SCN1A CLCN4 SCN1A FRRS1L ADGRG1 KDM5B PCDH19 PTPN23 SCN1A COX2 SCN8A VAMP2 SRPX2 POLG SCN1B RARS1 GRIN1 PLCB1 COX3 CHAMP1 PUS3 SCN8A TMTC3 GRIK2 NDST1 SLC12A3 ZMYND11 GABRA1 MAN1B1 POGZ CRIPT EEF1A2 CDH15 KDM5B SLC25A10 CACNG2 GLI3 SDHD TSC1 SCN2A PIGQ GRIN2A CLCNKB TRNS1 SEC31A TRNH GABRA5 ATP1A2 MTOR HACE1 STXBP1 HCN1 ADRA2B SLC22A5 SCN2A DOCK8 TERT RPL10 YEATS2 TSC1 CNTNAP2 PIK3CA MYT1L PRRT2 PCDH19 SCN2A KIF1A TRIM8 FIG4 NF2 GABRB3 TAOK1 GRIN2A ND1 MARCHF6 TREX1 AP3D1 PPP3CA ND4 WARS2 SUFU GABRD SCN2A PNKP DYNC1H1 POLR3A CACNA1A PI4KA CAMK2A TBC1D24 SMS LMAN2L ZEB2 ERMARD BAP1 KANSL1 GRIN2A TRNQ PIGC MAPK10 ZC3H14 DCPS SMARCB1 SAMD12 FIG4 HNMT CHD2 DMXL2 SCN1B CARS2 CDKL5 SCN2A STXBP1 ZEB2 GABRG2 KCNA1 CDH2 KCNQ3 KIRREL3 TICAM1 SLC25A22 SETD2 SCN1A KCNQ2 LAMA2 MAP1B TMEM231 METTL23 TRPM3 MED23 DMXL2 KCNT1 PCDH19 CAMK2B MICAL1 SIK1 IQSEC1 TRNL1 TLR3 SZT2 RAB11A AP2M1 SCN1B PGAP1 TBC1D24 SCN1B HIVEP2 AKT1 SRPX2 TBCK SLC25A22 GALNT2 TRNF STX1B NHLRC1 CLN8 PRRT2 MED25 TBK1 TCF4 KANSL1 ND5 PURA SRPX2 LINS1 PRRT2 WASHC4 TRAF7 CASK DYNC1H1 EPM2A CYP26C1 TRNS2 CIC C12ORF4 GABRD FMN2 MAP1B TUSC3 SCN1A ADGRV1 DEAF1 GAL RELN MED12L EPM2A SIK1 GNAO1 STX1B PYCR2 SLC45A1 EXTL3 GAMT VPS11 KCNQ3 CRADD TANGO2 GRIN1 CTNND2 ATXN10 GABRG2 TSC2 RELN PRRT2 SET PIGQ CLN8 CUX2 SDHA
Protein Mutations 0
SNP 0

Reports

Data processed on December 13, 2020.

An HTML report was created for each of the unique drugs, MeSH, and HPO terms associated with COVID-19 clinical trials. Each report contains a list of either the drug, the MeSH terms, or the HPO terms. All of the terms in a category are displayed on the left-hand side of the report to enable easy navigation, and the reports contain a list of correlated drugs, MeSH, and HPO terms. Further, all reports contain the details of the clinical trials in which the term is referenced. Every clinical trial report shows the mapped HPO and MeSH terms, which are also hyperlinked. Related HPO terms, with their associated genes, protein mutations, and SNPs are also referenced in the report.

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