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Baraitser-Winter cerebrofrontofacial syndrome

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Name:
Baraitser-Winter cerebrofrontofacial syndrome
Description:
Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.
ORPHAcode:
2995
XREF(s):
Orphanet
OMIM
OMIM
ICD-10
Analyte(s):
ACTB
ACTG1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Epilepsy, seizures (196 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 1 NM_001605.3
    ACTB 100.00 1 NM_001101.5
    ADSL 100.00 1 NM_000026.4
    AKT3 100.00 1 NM_005465.7
    ALDH7A1 100.00 1 NM_001182.5
    ALG13 98.77 1 NM_001099922.3
    ANKRD11 99.99 1 NM_013275.6
    ARHGEF9 100.00 1 NM_001353921.2
    ARID1B 98.38 1 NM_001374828.1
    ARX 96.96 1 NM_139058.3
    ASXL3 100.00 1 NM_030632.3
    ATN1 100.00 1 NM_001940.4
    ATP1A2 100.00 1 NM_000702.4
    ATP1A3 100.00 1 NM_152296.5
    ATP7A 100.00 1 NM_000052.7
    ATRX 100.00 1 NM_000489.5
    ATXN2 100.00 1 NM_001372574.1
    BRAT1 100.00 1 NM_152743.4
    BTD 100.00 1 NM_001370658.1
    CACNA1A 100.00 1 NM_023035.3
    CACNA1D 100.00 1 NM_001128840.3
    CACNA1E 100.00 1 NM_001205293.3
    CACNA2D2 100.00 1 NM_001174051.3
    CAD 100.00 1 NM_004341.5
    CAMK2A 100.00 1 NM_015981.4
    CAMK2B 100.00 1 NM_001220.5
    CASK 100.00 1 NM_003688.3
    CDKL5 100.00 1 NM_001323289.2
    CERT1 100.00 1 NM_001130105.1
    CHD2 100.00 1 NM_001271.4
    CHRNA2 100.00 1 NM_000742.4
    CHRNA4 100.00 1 NM_000744.6
    CHRNB2 100.00 1 NM_000748.3
    CLN3 100.00 1 NM_001042432.2
    CLN5 100.00 1 NM_006493.4
    CLN6 100.00 1 NM_017882.3
    CLTC 100.00 1 NM_004859.4
    CNTNAP2 100.00 1 NM_014141.6
    COL4A1 100.00 1 NM_001845.6
    CSNK2B 100.00 1 NM_001320.7
    CSTB 100.00 1 NM_000100.4
    CTSA 100.00 1 NM_000308.4
    CTSD 100.00 1 NM_001909.5
    CTSF 100.00 1 NM_003793.4
    CUL4B 100.00 1 NM_001079872.2
    CYFIP2 100.00 1 NM_001037333.3
    DCX 100.00 1 NM_001195553.2
    DDC 100.00 1 NM_001082971.2
    DDX3X 100.00 1 NM_001356.4
    DEAF1 100.00 1 NM_021008.4
    DEPDC5 100.00 1 NM_001242896.3
    DHDDS 100.00 1 NM_205861.3
    DNAJC5 100.00 1 NM_025219.3
    DNM1 100.00 1 NM_004408.4
    DOCK7 100.00 1 NM_001367561.1
    DYNC1H1 100.00 1 NM_001376.5
    DYRK1A 100.00 1 NM_001347721.2
    EEF1A2 100.00 1 NM_001958.5
    EHMT1 100.00 1 NM_024757.5
    EPM2A 100.00 1 NM_005670.4
    FGF12 100.00 1 NM_021032.4
    FLNA 100.00 1 NM_001110556.2
    FMR1 100.00 1 NM_002024.6
    FOLR1 100.00 1 NM_016729.3
    FOXG1 99.86 1 NM_005249.5
    FOXP1 100.00 1 NM_032682.6
    GABBR2 100.00 1 NM_005458.8
    GABRA1 100.00 1 NM_001127644.2
    GABRA2 100.00 1 NM_001330690.1
    GABRA3 100.00 1 NM_000808.4
    GABRA5 100.00 1 NM_000810.4
    GABRB1 100.00 1 NM_000812.4
    GABRB2 100.00 1 NM_001371727.1
    GABRB3 100.00 1 NM_000814.6
    GABRD 100.00 1 NM_000815.5
    GABRG2 92.05 1 NM_198903.2
    GAD1 100.00 1 NM_000817.3
    GAD2 100.00 1 NM_001134366.2
    GAMT 100.00 1 NM_000156.6
    GATM 100.00 1 NM_001482.3
    GBA1 98.97 1 NM_000157.4
    GLDC 100.00 1 NM_000170.3
    GLI3 100.00 1 NM_000168.6
    GNAO1 100.00 1 NM_020988.3
    GNB1 100.00 1 NM_002074.5
    GOSR2 100.00 1 NM_004287.5
    GPAA1 100.00 1 NM_003801.4
    GRIA3 100.00 1 NM_007325.5
    GRIN1 100.00 1 NM_007327.4
    GRIN2A 100.00 1 NM_001134407.3
    GRIN2B 100.00 1 XM_011520629.2
    GRIN2D 100.00 1 NM_000836.2
    H3-3A 100.00 1 NM_002107.7
    H3-3B 100.00 1 NM_005324.5
    HECW2 100.00 1 NM_001348768.2
    HIVEP2 100.00 1 NM_006734.4
    HLCS 100.00 1 NM_000411.8
    HNRNPU 100.00 1 NM_031844.3
    HUWE1 100.00 1 NM_031407.7
    IQSEC2 99.37 1 NM_001111125.3
    JMJD1C 100.00 1 NM_032776.3
    KANSL1 100.00 1 NM_001193466.2
    KCNA1 100.00 1 NM_000217.3
    KCNA2 100.00 1 NM_004974.4
    KCNB1 100.00 1 NM_004975.4
    KCNC1 100.00 1 NM_001112741.2
    KCNH1 100.00 1 NM_172362.3
    KCNJ10 100.00 1 NM_002241.5
    KCNK4 100.00 1 NM_033310.3
    KCNQ2 100.00 1 NM_172107.4
    KCNQ3 100.00 1 NM_004519.4
    KCNT1 100.00 1 NM_020822.3
    KCNT2 100.00 1 NM_198503.5
    KCTD7 100.00 1 NM_153033.4
    KDM5C 100.00 1 NM_004187.5
    KDM6A 100.00 1 NM_001291415.2
    KIF1A 100.00 1 NM_001244008.1
    KMT2D 100.00 1 NM_003482.3
    KMT2E 100.00 1 NM_182931.3
    KPTN 100.00 1 NM_007059.4
    LGI1 100.00 1 NM_005097.4
    LRP1 100.00 1 NM_002332.3
    MAGI2 100.00 1 NM_012301.4
    MBD5 100.00 1 NM_018328.4
    MECP2 100.00 1 NM_001110792.2+NM_004992.3
    MED12 100.00 1 NM_005120.3
    MED13L 100.00 1 NM_015335.4
    MEF2C 100.00 1 NM_002397.5
    MFSD8 100.00 1 NM_001371596.2
    MICAL1 100.00 1 NM_022765.4
    MID1 100.00 1 NM_000381.4
    MOCS1 100.00 1 NM_001358530.2
    MTHFR 100.00 1 NM_005957.5
    MTOR 100.00 1 NM_004958.4
    NEDD4L 100.00 1 NM_001144967.3
    NEU1 100.00 1 NM_000434.4
    NEXMIF 100.00 1 NM_001008537.3
    NF1 100.00 1 NM_001042492.3
    NFIA 99.78 1 NM_001134673.4
    NHLRC1 100.00 1 NM_198586.3
    NLGN3 100.00 1 NM_181303.2
    NPRL2 100.00 1 NM_006545.5
    NPRL3 100.00 1 NM_001077350.3
    NRXN1 100.00 1 NM_001330078.2
    NTRK2 100.00 1 XM_017014751.2
    NUS1 100.00 1 NM_138459.5
    OPHN1 100.00 1 NM_002547.3
    PACS1 100.00 1 NM_018026.4
    PACS2 100.00 1 NM_001100913.3
    PAFAH1B1 100.00 1 NM_000430.4
    PANK2 100.00 1 NM_153638.3
    PCDH19 100.00 1 NM_001184880.2
    PHGDH 100.00 1 NM_006623.4
    PIGA 100.00 1 NM_002641.3
    PIGO 100.00 1 NM_032634.4
    PIGQ 100.00 1 NM_004204.5
    PIGS 100.00 1 NM_033198.4
    PIGT 100.00 1 NM_015937.6
    PIGU 100.00 1 NM_080476.4
    PIGV 100.00 1 NM_017837.4
    PIK3CA 100.00 1 NM_006218.4
    PIK3R2 100.00 1 NM_005027.4
    PLCB1 100.00 1 NM_015192.4
    PLPBP 100.00 1 NM_007198.4
    PLXNA1 100.00 1 NM_032242.3
    PNKP 100.00 1 NM_007254.4
    PNPO 100.00 1 NM_018129.4
    POLG 100.00 1 NM_001126131.2
    PPP2R1A 100.00 1 NM_014225.6
    PPP2R5D 100.00 1 NM_006245.4
    PPT1 100.00 1 NM_000310.4
    PRICKLE1 100.00 1 NM_153026.3
    PRIMA1 100.00 1 NM_178013.4
    PRRT2 100.00 1 NM_145239.3
    PSAT1 100.00 1 NM_058179.4
    PTEN 100.00 1 NM_000314.8
    PURA 100.00 1 NM_005859.5
    QARS1 100.00 1 NM_005051.3
    RELN 100.00 1 NM_005045.4
    RLIM 100.00 1 NM_016120.4
    SCAF4 100.00 1 NM_020706.2
    SCARB2 100.00 1 NM_005506.4
    SCN1A 100.00 1 NM_001165963.3
    SCN1B 100.00 1 NM_001037.5+NM_199037.5
    SCN2A 100.00 1 NM_001040142.2
    SCN3A 100.00 1 NM_006922.4
    SCN8A 100.00 1 NM_001330260.2
    SCN9A 100.00 1 NM_001365536.1
    SERPINI1 100.00 1 NM_001122752.1
    SETBP1 99.99 1 NM_015559.3
    SETD5 100.00 1 NM_001080517.3
    SLC12A5 100.00 1 NM_020708.5
    SLC19A3 100.00 1 NM_025243.4
    SLC1A2 100.00 1 NM_004171.4
    SLC25A22 100.00 1 NM_001191061.2
    SLC2A1 100.00 1 NM_006516.3
    SLC35A2 100.00 1 NM_005660.3
    SLC6A1 100.00 1 NM_003042.4
    SLC6A11 100.00 1 NM_014229.3
    SLC6A8 100.00 1 NM_005629.4
    SLC9A6 100.00 1 NM_001042537.1
    SMARCA2 100.00 1 NM_003070.5
    SMC1A 100.00 1 NM_006306.4
    SMS 100.00 1 NM_004595.5
    SNAP25 100.00 1 NM_130811.4
    SPTAN1 100.00 1 NM_001130438.3
    ST3GAL3 100.00 1 NM_006279.5
    STX1B 100.00 1 NM_052874.5
    STXBP1 100.00 1 NM_001032221.6
    SYN1 100.00 1 NM_006950.3
    SYNGAP1 100.00 1 NM_006772.3
    SZT2 100.00 1 NM_001365999.1
    TBC1D24 100.00 1 NM_001199107.2
    TBL1XR1 100.00 1 NM_024665.7
    TCF4 100.00 1 NM_001083962.2
    TNK2 100.00 1 XM_005269270.3
    TPP1 100.00 1 NM_000391.4
    TRPM6 100.00 1 NM_017662.5
    TRRAP 100.00 1 NM_001244580.1
    TSC1 100.00 1 NM_000368.5
    TSC2 100.00 1 NM_000548.5
    TUBA1A 100.00 1 NM_006009.4
    TWNK 100.00 1 NM_021830.5
    UBE3A 100.00 1 NM_130839.5
    UGP2 100.00 1 NM_006759.3
    WASF1 100.00 1 NM_003931.3
    WDR45 100.00 1 NM_001029896.2
    WWOX 100.00 1 NM_016373.4
    ZEB2 100.00 1 NM_014795.4
  • Rare epilepsy with developmental delay (> 240 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 0 No comment
    ABAT 100.00 0 No comment
    ACTB 99.92 0 No comment
    ACTG1 100.00 0 No comment
    ACTL6B 99.16 0 No comment
    ACY1 99.96 0 No comment
    ADAR 99.99 0 No comment
    ADPRS 91.11 0 No comment
    ADSL 99.73 0 No comment
    AFG3L2 95.23 0 No comment
    ALDH7A1 99.83 0 No comment
    ALG11 100.00 0 No comment
    ALG13 95.29 0 No comment
    AMT 100.00 0 No comment
    ANKRD11 99.99 0 No comment
    AP3B2 97.74 0 No comment
    AP4S1 87.73 0 No comment
    ARFGEF2 99.81 0 No comment
    ARHGEF9 99.89 0 No comment
    ARID1B 87.88 0 No comment
    ARV1 89.03 0 No comment
    ARX 59.32 0 No comment
    ASXL3 99.74 0 No comment
    ATN1 99.12 0 No comment
    ATP1A2 99.88 0 No comment
    ATP1A3 99.81 0 No comment
    BRAT1 99.96 0 No comment
    BSCL2 100.00 0 No comment
    CACNA1A 92.18 0 No comment
    CACNA1B 93.35 0 No comment
    CACNA1E 99.99 0 No comment
    CACNA1G 99.63 0 No comment
    CACNA2D2 94.11 0 No comment
    CASK 99.78 0 No comment
    CDK13 88.47 0 No comment
    CDKL5 97.71 0 No comment
    CERS1 76.68 0 No comment
    CERT1 99.89 0 No comment
    CHD2 99.95 0 No comment
    CLCN4 99.94 0 No comment
    CLN3 99.98 0 No comment
    CLN5 97.84 0 No comment
    CLN6 91.00 0 No comment
    CLN8 100.00 0 No comment
    CLTC 100.00 0 No comment
    CNKSR2 99.28 0 No comment
    CNTNAP2 99.99 0 No comment
    COL18A1 96.27 0 No comment
    COL4A1 98.54 0 No comment
    CPLX1 99.70 0 No comment
    CPT2 97.07 0 No comment
    CSNK2B 100.00 0 No comment
    CSTB 92.54 0 No comment
    CTSD 97.90 0 No comment
    CUX2 98.72 0 No comment
    CYFIP2 99.99 0 No comment
    DCX 99.86 0 No comment
    DDX3X 99.66 0 No comment
    DENND5A 98.99 0 No comment
    DEPDC5 99.97 0 No comment
    DHDDS 99.77 0 No comment
    DMXL2 99.86 0 No comment
    DNM1 94.54 0 No comment
    DNM1L 99.97 0 No comment
    DOCK7 99.35 0 No comment
    DYRK1A 100.00 0 No comment
    EEF1A2 91.59 0 No comment
    EHMT1 98.44 0 No comment
    EPM2A 81.75 0 No comment
    FARS2 99.99 0 No comment
    FGF12 100.00 0 No comment
    FLNA 99.50 0 No comment
    FMN2 92.71 0 No comment
    FMR1 99.71 0 No comment
    FOLR1 100.00 0 No comment
    FOXG1 75.13 0 No comment
    FRRS1L 69.11 0 No comment
    FZR1 100.00 0 No comment
    GABBR2 95.14 0 No comment
    GABRA1 100.00 0 No comment
    GABRA2 100.00 0 No comment
    GABRB1 100.00 0 No comment
    GABRB2 100.00 0 No comment
    GABRB3 98.87 0 No comment
    GABRG2 92.15 0 No comment
    GAD1 100.00 0 No comment
    GAMT 95.00 0 No comment
    GBA1 100.00 0 No comment
    GLDC 96.06 0 No comment
    GNAO1 100.00 0 No comment
    GNB1 100.00 0 No comment
    GNB5 99.70 0 No comment
    GOSR2 99.87 0 No comment
    GPHN 100.00 0 No comment
    GRIA2 100.00 0 No comment
    GRIA3 97.93 0 No comment
    GRIK2 99.97 0 No comment
    GRIN1 99.74 0 No comment
    GRIN2A 100.00 0 No comment
    GRIN2B 100.00 0 No comment
    GRIN2D 61.45 0 No comment
    HCN1 93.52 0 No comment
    HECW2 99.99 0 No comment
    HNRNPU 95.95 0 No comment
    HUWE1 99.62 0 No comment
    IER3IP1 99.80 0 No comment
    IFIH1 99.99 0 No comment
    IQSEC2 91.31 0 No comment
    IRF2BPL 91.18 0 No comment
    ITPA 100.00 0 No comment
    KANSL1 99.98 0 No comment
    KARS1 99.99 0 No comment
    KCNA1 100.00 0 No comment
    KCNA2 100.00 0 No comment
    KCNB1 99.01 0 No comment
    KCNC1 99.52 0 No comment
    KCNH1 99.96 0 No comment
    KCNJ10 100.00 0 No comment
    KCNK4 96.68 0 No comment
    KCNMA1 99.92 0 No comment
    KCNQ2 98.57 0 No comment
    KCNQ3 95.56 0 No comment
    KCNQ5 94.69 0 No comment
    KCNT1 97.66 0 No comment
    KCNT2 100.00 0 No comment
    KCTD7 97.74 0 No comment
    KDM5C 99.69 0 No comment
    KIF1A 99.96 0 No comment
    KIF2A 99.83 0 No comment
    KIF5C 99.91 0 No comment
    KMT2E 99.89 0 No comment
    MAP1B 99.93 0 No comment
    MBD5 100.00 0 No comment
    MECP2 91.83 0 No comment
    MED13L 99.94 0 No comment
    MEF2C 100.00 0 No comment
    MFSD8 100.00 0 No comment
    MOCS1 97.59 0 No comment
    MOCS2 100.00 0 No comment
    MTOR 99.89 0 No comment
    NARS2 99.98 0 No comment
    NBEA 98.89 0 No comment
    NEU1 100.00 0 No comment
    NEXMIF 99.96 0 No comment
    NF1 99.55 0 No comment
    NF2 99.93 0 No comment
    NHLRC1 99.28 0 No comment
    NIPA1 84.21 0 No comment
    NPRL2 100.00 0 No comment
    NPRL3 100.00 0 No comment
    NRXN1 98.90 0 No comment
    NTRK2 100.00 0 No comment
    NUS1 98.46 0 No comment
    OTUD6B 99.73 0 No comment
    PACS2 96.45 0 No comment
    PAFAH1B1 100.00 0 No comment
    PARS2 100.00 0 No comment
    PCDH19 99.80 0 No comment
    PHACTR1 97.55 0 No comment
    PIGA 99.89 0 No comment
    PIGN 99.84 0 No comment
    PIGQ 100.00 0 No comment
    PIGS 100.00 0 No comment
    PIGT 100.00 0 No comment
    PLCB1 99.97 0 No comment
    PLPBP 99.57 0 No comment
    PNKP 99.98 0 No comment
    PNPO 99.98 0 No comment
    POLG 99.86 0 No comment
    PPP2R5D 99.94 0 No comment
    PPP3CA 99.93 0 No comment
    PPT1 100.00 0 No comment
    PRICKLE1 100.00 0 No comment
    PRRT2 100.00 0 No comment
    PTEN 92.28 0 No comment
    PURA 85.06 0 No comment
    QARS1 100.00 0 No comment
    RELN 99.97 0 No comment
    RHOBTB2 99.98 0 No comment
    RNASEH2A 99.99 0 No comment
    RNASEH2B 93.70 0 No comment
    RNASEH2C 95.34 0 No comment
    ROGDI 94.47 0 No comment
    RORA 97.11 0 No comment
    RORB 100.00 0 No comment
    RTN4IP1 100.00 0 No comment
    SAMHD1 100.00 0 No comment
    SCARB2 100.00 0 No comment
    SCN1A 99.91 0 No comment
    SCN1B 95.75 0 No comment
    SCN2A 100.00 0 No comment
    SCN3A 100.00 0 No comment
    SCN8A 99.95 0 No comment
    SERPINI1 99.98 0 No comment
    SETD2 99.95 0 No comment
    SIK1 99.98 0 No comment
    SLC12A5 99.55 0 No comment
    SLC13A5 99.89 0 No comment
    SLC19A3 100.00 0 No comment
    SLC1A2 99.99 0 No comment
    SLC25A12 100.00 0 No comment
    SLC25A22 99.88 0 No comment
    SLC2A1 99.27 0 No comment
    SLC35A2 99.82 0 No comment
    SLC35A3 99.97 0 No comment
    SLC6A1 99.93 0 No comment
    SLC6A8 91.78 0 No comment
    SLC9A6 94.23 0 No comment
    SMARCA2 97.46 0 No comment
    SMC1A 99.50 0 No comment
    SNAP25 100.00 0 No comment
    AFG2A 100.00 0 No comment
    SPTAN1 99.98 0 No comment
    ST3GAL3 100.00 0 No comment
    ST3GAL5 93.40 0 No comment
    STAG1 99.98 0 No comment
    STX1B 99.89 0 No comment
    STXBP1 100.00 0 No comment
    SYN1 75.34 0 No comment
    SYNGAP1 98.18 0 No comment
    SYNJ1 99.27 0 No comment
    SZT2 99.94 0 No comment
    TANC2 100.00 0 No comment
    TBC1D24 99.73 0 No comment
    TBCD 96.99 0 No comment
    TCF4 99.90 0 No comment
    TK2 85.99 0 No comment
    ACD 99.86 0 No comment
    TRAK1 99.99 0 No comment
    TRAPPC6B 100.00 0 No comment
    TREX1 100.00 0 No comment
    TRIT1 99.98 0 No comment
    TSC1 99.97 0 No comment
    TSC2 99.99 0 No comment
    TUBA1A 100.00 0 No comment
    TUBB2B 100.00 0 No comment
    UBA5 99.97 0 No comment
    UBE3A 99.97 0 No comment
    UFC1 99.91 0 No comment
    UGDH 99.96 0 No comment
    VARS1 100.00 0 No comment
    VARS2 100.00 0 No comment
    WDR26 99.78 0 No comment
    WDR45 99.67 0 No comment
    WWOX 100.00 0 No comment
    YWHAG 100.00 0 No comment
    ZBTB18 99.11 0 No comment
    ZEB2 99.91 0 No comment
    ZNHIT3 74.73 0 No comment
  • Trombosis - Hemostasis (107 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC4 95.00 0 NM_005845.4/ interpretable range CS1>95%
    ABCG5 95.00 0 NM_022436.2/ interpretable range CS1>95%
    ABCG8 95.00 0 NM_022437.2/ interpretable range CS1>95%
    ACTB 95.00 0 NM_001101.4/ interpretable range CS1>95%
    ACTN1 95.00 0 NM_001130004.1/ interpretable range CS1>95%
    ACVRL1 95.00 0 NM_000020.2/ interpretable range CS1>95%
    ADAMTS13 95.00 0 NM_139025.4/ interpretable range CS1>95%
    ANKRD26 95.00 0 NM_014915.2/ interpretable range CS1>95%
    ANO6 95.00 0 NM_001025356.2/ interpretable range CS1>95%
    AP3B1 95.00 0 NM_003664.4/ interpretable range CS1>95%
    AP3D1 95.00 0 NM_001261826.1/ interpretable range CS1>95%
    ARPC1B 95.00 0 NM_005720.3/ interpretable range CS1>95%
    BLOC1S3 95.00 0 NM_212550.3/ interpretable range CS1>95%
    BLOC1S5 95.00 0 NM_201280.2/ interpretable range CS1>95%
    BLOC1S6 95.00 0 NM_012388.2/ interpretable range CS1>95%
    CDC42 95.00 0 NM_001791.3/ interpretable range CS1>95%
    CHST14 95.00 0 NM_130468.3/ interpretable range CS1>95%
    COL1A1 95.00 0 NM_000088.3/ interpretable range CS1>95%
    COL3A1 95.00 0 NM_000090.3/ interpretable range CS1>95%
    COL4A1 95.00 0 NM_001845.5/ interpretable range CS1>95%
    COL4A2 95.00 0 NM_001846.3/ interpretable range CS1>95%
    COL5A1 95.00 0 NM_000093.4/ interpretable range CS1>95%
    COL5A2 95.00 0 NM_000393.3/ interpretable range CS1>95%
    CYCS 95.00 0 NM_018947.5/ interpretable range CS1>95%
    DIAPH1 95.00 0 NM_005219.4/ interpretable range CS1>95%
    DTNBP1 95.00 0 NM_032122.4/ interpretable range CS1>95%
    ENG 95.00 0 NM_000118.3/ interpretable range CS1>95%
    ETV6 95.00 0 NM_001987.4/ interpretable range CS1>95%
    F10 95.00 0 NM_000504.3/ interpretable range CS1>95%
    F11 95.00 0 NM_000128.3/ interpretable range CS1>95%
    F12 95.00 0 NM_000505.3/ interpretable range CS1>95%
    F13A1 95.00 0 NM_000129.3/ interpretable range CS1>95%
    F13B 95.00 0 NM_001994.2/ interpretable range CS1>95%
    F2 95.00 0 NM_000506.3/ interpretable range CS1>95%
    F5 95.00 0 NM_000130.4/ interpretable range CS1>95%
    F7 95.00 0 NM_000131.4/ interpretable range CS1>95%
    F8 95.00 0 NM_000132.3/ interpretable range CS1>95%
    F9 95.00 0 NM_000133.3/ interpretable range CS1>95%
    FERMT3 95.00 0 NM_031471.5/ interpretable range CS1>95%
    FGA 95.00 0 NM_021871.2/ interpretable range CS1>95%
    FGB 95.00 0 NM_005141.4/ interpretable range CS1>95%
    FGG 95.00 0 NM_000509.4/ interpretable range CS1>95%
    FLII 95.00 0 NM_002017.4/ interpretable range CS1>95%
    FLNA 95.00 0 NM_001456.3/ interpretable range CS1>95%
    FYB1 95.00 0 NM_001465.5/ interpretable range CS1>95%
    GATA1 95.00 0 NM_002049.3/ interpretable range CS1>95%
    GDF2 95.00 0 NM_016204.3/ interpretable range CS1>95%
    GFI1B 95.00 0 NM_004188.5/ interpretable range CS1>95%
    GGCX 95.00 0 NM_000821.5/ interpretable range CS1>95%
    GNE 95.00 0 NM_001128227.2/ interpretable range CS1>95%
    GP1BA 95.00 0 NM_000173.6/ interpretable range CS1>95%
    GP1BB 95.00 0 NM_000407.4/ interpretable range CS1>95%
    GP6 95.00 0 NM_001083899.2/ interpretable range CS1>95%
    GP9 95.00 0 NM_000174.4/ interpretable range CS1>95%
    HOXA11 95.00 0 NM_005523.5/ interpretable range CS1>95%
    HPS1 95.00 0 NM_000195.3/ interpretable range CS1>95%
    HPS3 95.00 0 NM_032383.3/ interpretable range CS1>95%
    HPS4 95.00 0 NM_022081.5/ interpretable range CS1>95%
    HPS5 95.00 0 NM_181507.1/ interpretable range CS1>95%
    HPS6 95.00 0 NM_024747.5/ interpretable range CS1>95%
    HRG 95.00 0 NM_000412.3/ interpretable range CS1>95%
    IKZF5 95.00 0 NM_001271840.1/ interpretable range CS1>95%
    ITGA2B 95.00 0 NM_000419.3/ interpretable range CS1>95%
    ITGB3 95.00 0 NM_000212.2/ interpretable range CS1>95%
    KDSR 95.00 0 NM_002035.2/ interpretable range CS1>95%
    KNG1 95.00 0 NM_001102416.2/ interpretable range CS1>95%
    LMAN1 95.00 0 NM_005570.3/ interpretable range CS1>95%
    LYST 95.00 0 NM_000081.3/ interpretable range CS1>95%
    MCFD2 95.00 0 NM_139279.5/ interpretable range CS1>95%
    MECOM 95.00 0 NM_001105078.3/ interpretable range CS1>95%
    MPIG6B 95.00 0 NM_025260.3/ interpretable range CS1>95%
    MPL 95.00 0 NM_005373.2/ interpretable range CS1>95%
    MYH9 95.00 0 NM_002473.5/ interpretable range CS1>95%
    NBEA 95.00 0 NM_015678.4/ interpretable range CS1>95%
    NBEAL2 95.00 0 NM_015175.2/ interpretable range CS1>95%
    P2RY12 95.00 0 NM_022788.4/ interpretable range CS1>95%
    PIGA 95.00 0 NM_002641.3/ interpretable range CS1>95%
    PLA2G4A 95.00 0 NM_024420.2/ interpretable range CS1>95%
    PLAU 95.00 0 NM_002658.3/ interpretable range CS1>95%
    PLG 95.00 0 NM_000301.3/ interpretable range CS1>95%
    PROC 95.00 0 NM_000312.3/ interpretable range CS1>95%
    PROS1 95.00 0 NM_000313.3/ interpretable range CS1>95%
    PTGS1 95.00 0 NM_000962.3/ interpretable range CS1>95%
    RASGRP2 95.00 0 NM_153819.1/ interpretable range CS1>95%
    RBM8A 95.00 0 NM_005105.4/ interpretable range CS1>95%
    RUNX1 95.00 0 NM_001754.4/ interpretable range CS1>95%
    SERPINC1 95.00 0 NM_000488.3/ interpretable range CS1>95%
    SERPIND1 95.00 0 NM_000185.3/ interpretable range CS1>95%
    SERPINE1 95.00 0 NM_000602.4/ interpretable range CS1>95%
    SERPINF2 95.00 0 NM_000934.3/ interpretable range CS1>95%
    SLFN14 95.00 0 NM_001129820.1/ interpretable range CS1>95%
    SMAD4 95.00 0 NM_005359.5/ interpretable range CS1>95%
    SRC 95.00 0 NM_005417.4/ interpretable range CS1>95%
    STIM1 95.00 0 NM_003156.3/ interpretable range CS1>95%
    STXBP2 95.00 0 NM_006949.3/ interpretable range CS1>95%
    TBXA2R 95.00 0 NM_001060.5/ interpretable range CS1>95%
    TBXAS1 95.00 0 NM_001061.4/ interpretable range CS1>95%
    THBD 95.00 0 NM_000361.2/ interpretable range CS1>95%
    THPO 95.00 0 NM_000460.3/ interpretable range CS1>95%
    TPM4 95.00 0 NM_001145160.1/ interpretable range CS1>95%
    TUBB1 95.00 0 NM_030773.3/ interpretable range CS1>95%
    VIPAS39 95.00 0 NM_022067.3/ interpretable range CS1>95%
    VKORC1 95.00 0 NM_024006.4/ interpretable range CS1>95%
    VPS33B 95.00 0 NM_018668.4/ interpretable range CS1>95%
    VWF 95.00 0 NM_000552.3/ interpretable range CS1>95%
    WAS 95.00 0 NM_000377.2/ interpretable range CS1>95%
    RAP1B 95.00 -2 NM_015646.6/ interpretable range CS1>95%