1. Analytes
  2. HNF1A

HNF1A

Analyte Export to PDF
Name:
HNF1 homeobox A
Symbol:
HNF1A
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
HNF1
HNF1a
LFB1
XREF(s):
Orphanet
Genatlas
HGNC
OMIM
Reactome
SwissProt
Ensembl
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (146 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADAMTS9 100.00 1 NM_182920.2
    ALG8 100.00 1 NM_024079.5
    ANKS6 100.00 1 NM_173551.5
    ARL6 100.00 1 NM_001278293.3
    BBIP1 100.00 1 NM_001195305.3
    BBS1 100.00 1 NM_024649.5
    BBS10 100.00 1 NM_024685.4
    BBS12 100.00 1 NM_152618.3
    BBS2 100.00 1 NM_031885.5
    BBS4 100.00 1 NM_033028.5
    BBS5 100.00 1 NM_152384.3
    BBS7 100.00 1 NM_176824.3
    BBS9 100.00 1 NM_198428.3
    CDC73 100.00 1 NM_024529.5
    CEP164 100.00 1 NM_014956.5
    CEP290 100.00 1 NM_025114.4
    CEP83 100.00 1 NM_016122.3
    COL4A1 100.00 1 NM_001845.6
    COL4A3 100.00 1 NM_000091.5
    COL4A4 100.00 1 NM_000092.5
    COL4A5 100.00 1 NM_033380.3
    DCDC2 100.00 1 NM_016356.5
    DNAJB11 100.00 1 NM_016306.6
    DZIP1L 100.00 1 NM_173543.3
    EYA1 100.00 1 NM_000503.6
    FAN1 100.00 1 NM_014967.5
    FH 100.00 1 NM_000143.4
    FLCN 100.00 1 NM_144997.7
    GANAB 100.00 1 NM_198334.3
    GATA3 100.00 1 NM_001002295.2
    GATM 100.00 1 NM_001482.3
    GLIS2 100.00 1 NM_032575.3
    HNF1B 100.00 1 NM_000458.4
    IFT172 100.00 1 NM_015662.3
    IFT27 100.00 1 NM_001177701.3
    INVS 100.00 1 NM_014425.5
    IQCB1 100.00 1 NM_001023570.4
    LRP5 100.00 1 NM_002335.4
    LRP6 100.00 1 NM_002336.3
    LZTFL1 100.00 1 NM_020347.4
    MAPKBP1 100.00 1 NM_014994.3
    MET 100.00 1 NM_000245.4
    MKKS 100.00 1 NM_170784.3
    MKS1 100.00 1 NM_017777.4
    NEK8 100.00 1 NM_178170.3
    NOTCH2 99.00 1 NM_024408.4
    NPHP1 100.00 1 NM_001128178.3
    NPHP3 100.00 1 NM_153240.5
    NPHP4 100.00 1 NM_015102.5
    OFD1 100.00 1 NM_003611.3
    PAX2 100.00 1 NM_000278.5
    PKD1 100.00 1 NM_001009944.3
    PKD2 100.00 1 NM_000297.4
    PKHD1 100.00 1 NM_138694.4
    PMM2 0.00 1 NM_000303.2 une seule position
    PRKCSH 100.00 1 NM_001289104.2
    PTEN 100.00 1 NM_000314.8
    REN 100.00 1 NM_000537.4
    RPGRIP1L 96.00 1 NM_015272.5
    SDCCAG8 100.00 1 NM_006642.5
    SDHB 100.00 1 NM_003000.3
    SDHD 100.00 1 NM_003002.4
    SEC61A1 100.00 1 NM_013336.4
    SEC63 100.00 1 NM_007214.5
    TMEM67 100.00 1 NM_153704.6
    TRIM32 100.00 1 NM_012210.4
    TSC1 100.00 1 NM_000368.5
    TSC2 100.00 1 NM_000548.5
    TTC21B 100.00 1 NM_024753.5
    TTC8 100.00 1 NM_144596.4
    UMOD 100.00 1 NM_003361.4
    VHL 100.00 1 NM_000551.4
    WDPCP 100.00 1 NM_015910.7
    WDR19 100.00 1 NM_025132.4
    XPNPEP3 100.00 1 NM_022098.4
    ZNF423 100.00 1 NM_001379286.1
    AHI1 100.00 1 NM_001134831.2
    ALG5 100.00 1 NM_013338.5
    ALG9 100.00 1 NM_024740.2
    ARL13B 100.00 1 NM_001174150.2
    ARL3 100.00 1 NM_004311.4
    ARMC9 100.00 1 NM_001352754.2
    ATXN10 100.00 1 NM_013236.4
    B9D1 100.00 1 NM_015681.6
    B9D2 100.00 1 NM_030578.4
    BAP1 100.00 1 NM_004656.4
    C2CD3 100.00 1 NM_001286577.2
    CC2D2A 100.00 1 NM_001378615.1
    CCDC28B 100.00 1 NM_024296.5
    CEP104 100.00 1 NM_014704.4
    CEP120 100.00 1 NM_001375405.1
    CEP41 100.00 1 NM_018718.3
    CFAP418 100.00 1 NM_177965.4
    CPLANE1 100.00 1 NM_001384732.1
    CSPP1 100.00 1 NM_001382391.1
    CYP24A1 100.00 1 NM_000782.5
    DLG5 100.00 1 NM_004747.4
    DYNC2H1 100.00 1 NM_001377.3
    DYNC2I1 100.00 1 NM_018051.5
    DYNC2I2 100.00 1 NM_052844.4
    DYNC2LI1 100.00 1 NM_016008.4
    DYNLT2B 100.00 1 NM_152773.5
    EVC 100.00 1 NM_153717.3
    EVC2 100.00 1 NM_147127.5
    FAM149B1 100.00 1 NM_173348.2
    HNF1A 100.00 1 NM_000545.8
    HYLS1 100.00 1 NM_001134793.2
    IFT122 100.00 1 NM_052989.3
    IFT140 100.00 1 NM_014714.4
    IFT43 100.00 1 NM_001102564.3
    IFT52 100.00 1 NM_016004.5
    IFT74 100.00 1 NM_025103.4
    IFT80 100.00 1 NM_020800.3
    IFT81 100.00 1 NM_014055.4
    INPP5E 100.00 1 NM_019892.6
    INTU 100.00 1 NM_015693.4
    JAG1 100.00 1 NM_000214.3
    KATNIP 100.00 1 NM_015202.5
    KIAA0586 100.00 1 NM_001329943.3
    KIAA0753 100.00 1 NM_014804.3
    KIF14 100.00 1 NM_014875.3
    KIF7 100.00 1 NM_198525.3
    NEK1 100.00 1 NM_001199397.3
    PARN 100.00 1 NM_002582.4
    PDE6D 100.00 1 NM_002601.4
    PIBF1 100.00 1 NM_006346.4
    POC1B 100.00 1 NM_172240.3
    RNF139 100.00 1 NM_007218.4
    SDHA 100.00 1 NM_004168.4
    SDHC 100.00 1 NM_003001.5
    SEC61B 100.00 1 NM_006808.3
    SLC41A1 100.00 1 NM_173854.6
    SREBF1 100.00 1 NM_004176.5
    SUFU 100.00 1 NM_016169.4
    TCTN1 100.00 1 NM_001082538.3
    TCTN2 100.00 1 NM_024809.5
    TCTN3 100.00 1 NM_015631.6
    TFAP2A 100.00 1 NM_001372066.1
    TMEM107 100.00 1 NM_183065.4
    TMEM138 100.00 1 NM_016464.5
    TMEM216 100.00 1 NM_001173990.3
    TMEM218 100.00 1 NM_001258244.2
    TMEM231 100.00 1 NM_001077418.3
    TMEM237 100.00 1 NM_001044385.3
    TOGARAM1 100.00 1 NM_001308120.2
    TRAF3IP1 100.00 1 NM_015650.4
    TXNDC15 100.00 1 NM_024715.4
    WDR35 100.00 1 NM_020779.4
  • Congenital structural heart defects - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AATK 99.98 1
    ABL1 100.00 1
    ACAN 91.51 1
    ACTA1 99.99 1
    ACTB 100.00 1
    ACTC1 98.57 1
    ACTG1 100.00 1
    ACTN2 99.99 1
    ACVR1 99.94 1
    ACVR1B 99.99 1
    ACVR2A 99.15 1
    ACVR2B 99.99 1
    ACVRL1 99.88 1
    ADAMTS10 99.99 1
    ADNP 100.00 1
    AKAP12 100.00 1
    AKT1 100.00 1
    AKT2 99.85 1
    ALDH1A2 99.97 1
    ALX3 99.74 1
    ANKRD1 99.57 1
    ANKRD11 99.85 1
    AP1B1 99.99 1
    APAF1 98.70 1
    AR 99.76 1
    ARHGAP31 100.00 1
    ARID4A 99.90 1
    ATP2A2 99.98 1
    ATRX 99.44 1
    AXIN1 100.00 1
    BCOR 99.97 1
    BMP10 99.96 1
    BMP2 99.79 1
    BMP4 100.00 1
    BMP6 100.00 1
    BMP7 100.00 1
    BMPR1A 99.58 1
    BMPR2 99.95 1
    BRAF 99.78 1
    BRIP1 99.39 1
    BVES 99.83 1
    CASQ2 94.39 1
    CAV1 99.97 1
    CAV3 100.00 1
    CBL 99.95 1
    CCDC103 99.68 1
    CCDC39 99.74 1
    CCDC40 100.00 1
    CCDC65 99.80 1
    CCN1 99.99 1
    CCNO 100.00 1
    CD96 99.91 1
    CDK13 99.83 1
    CDK4 100.00 1
    CDX2 100.00 1
    CENPF 99.97 1
    CFAP53 99.95 1
    CFC1 21.93 1
    CHAC2 99.68 1
    CHD4 99.99 1
    CHD7 99.99 1
    CHD8 99.96 1
    CITED2 100.00 1
    COL1A1 99.90 1
    COL1A2 99.34 1
    COL2A1 99.87 1
    COX7B 99.86 1
    CREBBP 99.97 1
    CRELD1 99.99 1
    CRIP2 99.99 1
    CRYAB 100.00 1
    CSNK1D 99.99 1
    CSRP1 99.75 1
    CSRP3 100.00 1
    CTNNB1 99.95 1
    DDX3X 99.01 1
    DES 100.00 1
    DIAPH3 99.85 1
    DICER1 99.96 1
    DLGAP5 99.83 1
    DLL1 99.99 1
    DLL4 100.00 1
    DNAAF1 99.99 1
    DNAAF11 99.80 1
    DNAAF2 99.91 1
    DNAAF3 99.99 1
    DNAAF4 99.78 1
    DNAAF5 99.99 1
    DNAH11 99.93 1
    DNAH5 99.98 1
    DNAI1 99.92 1
    DNAI2 99.86 1
    DNAJB13 99.91 1
    DNAH9 99.79 1
    DRC1 99.93 1
    DSCAM 99.99 1
    DVL1 100.00 1
    DYRK1A 99.98 1
    E2F1 99.99 1
    ECE1 99.92 1
    EDNRA 99.97 1
    EFEMP2 99.94 1
    EFNB1 99.95 1
    EFTUD2 99.93 1
    EGFR 99.68 1
    EGR1 99.99 1
    EHMT1 98.38 1
    ELN 99.86 1
    ENG 100.00 1
    EOGT 99.09 1
    EP300 99.97 1
    EPHB2 99.86 1
    EPHB4 99.82 1
    ERBB2 99.98 1
    ERCC4 99.92 1
    ESR2 99.96 1
    ETS1 99.99 1
    EVC 99.95 1
    EVC2 99.97 1
    EWSR1 99.94 1
    EZH2 99.89 1
    F2R 99.98 1
    FABP3 99.87 1
    FADD 99.97 1
    FANCA 100.00 1
    FANCB 99.24 1
    FANCC 99.98 1
    FANCD2 99.86 1
    FANCE 99.99 1
    FANCF 100.00 1
    FANCG 100.00 1
    FANCI 99.96 1
    FANCL 99.67 1
    FBLN1 98.69 1
    FBLN7 99.95 1
    FBN1 99.85 1
    FBN2 99.90 1
    FGF10 99.95 1
    FGF8 100.00 1
    FGFR1 100.00 1
    FGFR2 99.99 1
    FGFR3 100.00 1
    FHL2 100.00 1
    FIBP 99.83 1
    FLII 100.00 1
    FLNA 99.99 1
    FLNC 99.99 1
    FLT1 99.99 1
    FLT4 97.93 1
    FN1 99.95 1
    FOXC1 100.00 1
    FOXC2 100.00 1
    FOXH1 100.00 1
    FOXK2 99.76 1
    FOXL1 100.00 1
    FOXL2 99.97 1
    FOXO1 100.00 1
    FOXP1 99.98 1
    FSCN2 100.00 1
    G6PC3 99.98 1
    GAS8 100.00 1
    GATA2 99.99 1
    GATA4 99.99 1
    GATA5 100.00 1
    GATA6 99.90 1
    GATAD2B 99.44 1
    GDF1 100.00 1
    GDF11 99.97 1
    GDF5 100.00 1
    GDNF 99.99 1
    GJA1 100.00 1
    GJA5 100.00 1
    GJD2 99.99 1
    GLB1 100.00 1
    GLI2 99.93 1
    GLI3 100.00 1
    GPC3 99.60 1
    GPC5 99.96 1
    GPC6 99.98 1
    GRK5 99.97 1
    GTF2I 47.18 1
    GTF2IRD1 99.77 1
    HAND1 99.99 1
    HAND2 99.97 1
    HDAC8 99.74 1
    HES4 100.00 1
    HEY2 99.75 1
    HIF1A 99.87 1
    HMGB2 99.99 1
    HNF1A 100.00 1
    HNF4A 100.00 1
    HOXA1 100.00 1
    HOXB2 99.99 1
    HRAS 100.00 1
    HSPB1 99.97 1
    HSPB8 100.00 1
    HSPG2 99.87 1
    HYDIN 81.28 1
    ID2 100.00 1
    IGF1R 100.00 1
    IGFBP4 99.85 1
    IKBKB 99.93 1
    ILK 100.00 1
    INHBA 99.98 1
    INHBC 99.99 1
    INPP5D 99.98 1
    INSR 99.99 1
    IRS1 100.00 1
    IRX4 99.99 1
    ISL1 99.99 1
    ITGAV 99.40 1
    ITGB1 99.96 1
    ITGB3 99.83 1
    ITGB4 99.99 1
    JAG1 100.00 1
    JAM3 100.00 1
    JUN 100.00 1
    KANSL1 99.85 1
    KAT6A 99.93 1
    KAT6B 99.79 1
    KDM3B 99.98 1
    KDM5A 99.90 1
    KDM5B 97.15 1
    KDM6A 99.74 1
    KDR 99.86 1
    KIT 99.86 1
    KMT2D 99.98 1
    KRAS 99.13 1
    KREMEN1 99.88 1
    LAMA2 99.95 1
    LAMA5 99.99 1
    LAMC1 99.55 1
    LBR 99.66 1
    LEFTY1 99.98 1
    LEFTY2 100.00 1
    LHX3 99.99 1
    LMNA 99.96 1
    LMX1B 100.00 1
    LRP2 99.86 1
    LTBP1 99.95 1
    LTBP3 99.96 1
    LZTR1 99.46 1
    MAFG 100.00 1
    MAP2K1 99.98 1
    MAP2K2 99.99 1
    MAPK14 99.95 1
    MCTP2 99.99 1
    MECOM 99.97 1
    MED13L 99.99 1
    MEF2C 99.57 1
    MEGF8 99.90 1
    MESP1 100.00 1
    MET 99.97 1
    METTL3 99.98 1
    MGP 99.95 1
    MID1 99.90 1
    MITF 99.98 1
    MMP2 99.96 1
    MMP21 99.99 1
    MSX1 100.00 1
    MTHFD1 100.00 1
    MTHFR 99.97 1
    MTRR 99.98 1
    MYBPC3 99.98 1
    MYC 100.00 1
    MYH10 99.91 1
    MYH11 99.16 1
    MYH6 100.00 1
    MYH7 99.99 1
    MYH9 99.95 1
    MYL2 99.99 1
    MYL3 99.99 1
    MYL7 99.95 1
    MYOCD 99.99 1
    MYOM1 99.98 1
    MYOZ2 99.99 1
    NF1 99.88 1
    NFATC1 100.00 1
    NFIX 99.99 1
    NFKB1 99.80 1
    NID2 99.97 1
    NIPBL 99.34 1
    NKX2-1 100.00 1
    NKX2-5 99.75 1
    NKX2-6 100.00 1
    NME8 99.83 1
    NNMT 100.00 1
    NODAL 99.98 1
    NONO 99.94 1
    NOS3 93.73 1
    NOTCH1 99.98 1
    NOTCH2 99.03 1
    NOTCH3 99.99 1
    NPHP3 99.89 1
    NPHP4 99.98 1
    NPPA 100.00 1
    NR2F2 100.00 1
    NR4A2 99.97 1
    NRAS 99.66 1
    NRP1 99.99 1
    NRP2 99.98 1
    NSD1 99.98 1
    ODAD1 96.04 1
    ODAD2 98.19 1
    ODAD3 99.96 1
    ODAD4 99.85 1
    OTX2 100.00 1
    PACS1 99.96 1
    PAX3 100.00 1
    PCSK5 99.97 1
    PDGFC 99.97 1
    PDGFRA 99.94 1
    PDGFRB 99.99 1
    PDHX 100.00 1
    PIGA 99.81 1
    PIGL 99.98 1
    PIGN 99.91 1
    PIGT 99.95 1
    PITX2 99.98 1
    PKD1L1 99.84 1
    PLAGL1 99.96 1
    PLAT 99.99 1
    POU5F1 100.00 1
    PPARG 99.96 1
    PPARGC1A 99.82 1
    PPP3CA 99.84 1
    PRKACA 99.95 1
    PRKD1 99.96 1
    PROX1 99.98 1
    PRRX1 99.56 1
    PSEN1 100.00 1
    PSEN2 99.97 1
    PTEN 99.89 1
    PTK2 99.97 1
    PTP4A3 99.99 1
    PTPN11 99.98 1
    PUF60 100.00 1
    RAB23 99.97 1
    RAD21 99.91 1
    RAD51C 99.02 1
    RAF1 99.97 1
    RAI1 99.22 1
    RAI2 99.98 1
    RARB 99.99 1
    RARG 99.98 1
    RB1 99.84 1
    RBBP7 99.87 1
    RBL2 99.44 1
    RBM10 99.98 1
    RBM8A 99.37 1
    RELA 99.99 1
    RERE 99.94 1
    RET 99.97 1
    RGS19 99.88 1
    RIT1 99.78 1
    RNF20 99.93 1
    ROR2 99.99 1
    RPGR 94.45 1
    RPL11 99.81 1
    RPL15 31.77 1
    RPL26 30.55 1
    RPL35A 97.55 1
    RPL5 28.81 1
    RPS10 0.00 1
    RPS17 100.00 1
    RPS19 100.00 1
    RPS24 91.48 1
    RPS26 8.99 1
    RPS28 100.00 1
    RPS29 99.96 1
    RPS7 88.50 1
    RSPH1 99.87 1
    RSPH3 99.94 1
    RSPH4A 99.95 1
    RSPH9 99.99 1
    RYR2 99.94 1
    SALL1 100.00 1
    SALL4 100.00 1
    SCN5A 100.00 1
    SESN1 99.95 1
    SF3B4 99.65 1
    SGCA 100.00 1
    SH3PXD2B 100.00 1
    SHH 100.00 1
    SHOC2 99.96 1
    HHAT 99.98 1
    SLC19A1 99.99 1
    SLC25A4 100.00 1
    SLC2A10 100.00 1
    SLX4 100.00 1
    SMAD2 99.92 1
    SMAD3 99.99 1
    SMAD4 99.97 1
    SMAD6 100.00 1
    SMARCE1 99.87 1
    SMC1A 99.98 1
    SMC3 99.91 1
    SMG9 99.99 1
    SOS1 99.68 1
    SOS2 99.39 1
    SOX2 100.00 1
    SOX4 99.36 1
    SP1 99.98 1
    SPAG1 99.78 1
    SPATC1L 99.99 1
    SPECC1L 99.98 1
    SRCAP 99.99 1
    SRF 99.99 1
    STAT3 99.97 1
    STRA6 99.95 1
    SUZ12 98.58 1
    TAB2 99.75 1
    TBX1 99.95 1
    TBX2 99.97 1
    TBX20 99.99 1
    TBX3 100.00 1
    TBX5 99.98 1
    TBX6 99.99 1
    TCAP 100.00 1
    TCF21 100.00 1
    TCF3 100.00 1
    TCN2 100.00 1
    CRIPTO 99.82 1
    TEAD1 99.97 1
    TEK 99.98 1
    TFAP2A 100.00 1
    TFAP2B 99.98 1
    TFAP2C 100.00 1
    TGFB1 100.00 1
    TGFB2 99.87 1
    TGFB3 100.00 1
    TGFBR1 99.94 1
    TGFBR2 99.98 1
    TGIF1 100.00 1
    THBS1 100.00 1
    THBS4 100.00 1
    THOC5 99.90 1
    THRB 99.82 1
    DDR2 97.39 1
    TLL1 99.94 1
    TNFRSF11A 100.00 1
    TNFRSF1A 100.00 1
    TNNI3 100.00 1
    TNNT2 99.87 1
    TNR 99.80 1
    TP53 99.98 1
    TP73 100.00 1
    TPM1 99.92 1
    TRPM2 99.99 1
    TSR2 99.96 1
    TTN 99.15 1
    TWIST1 100.00 1
    UBE2B 99.94 1
    UBE2T 99.89 1
    USP44 99.86 1
    USP9X 99.84 1
    VCAN 99.99 1
    VDR 99.86 1
    VEGFA 99.99 1
    VEGFC 99.96 1
    WASHC5 99.98 1
    WDR5 100.00 1
    WNT11 100.00 1
    WT1 99.99 1
    YY1 100.00 1
    ZEB2 99.97 1
    ZFHX3 99.96 1
    ZFPM2 100.00 1
    ZIC3 99.90 1
    ZMYND10 99.99 1
  • Diabetes neonatal / Maturity onset Diabete of the Young (MODY) / Hyperinsulinism (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    GCK 99.99 1
    HNF1A 100.00 1
    HNF1B 100.00 1
    HNF4A 99.94 1
    INS 100.00 1
    ABCC8 99.99 1
    KCNJ11 100.00 1
    GLUD1 99.96 1
    HADH 99.97 1
    INSR 99.85 1
    SLC16A1 99.96 1
  • Lipodystrophy and/or hyperinsulinism (30 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC8 100.00 1 NM_000352.6
    AGPAT2 100.00 1 NM_006412.4
    AKT2 100.00 1 NM_001626.6
    ALMS1 100.00 1 NM_001378454.1
    BLM 100.00 1 NM_000057.4
    BSCL2 100.00 1 NM_001122955.4
    CAV1 100.00 1 NM_001753.5
    CAVIN1 100.00 1 NM_012232.6
    CIDEC 100.00 1 NM_001321142.2
    GCK 100.00 1 NM_000162.5
    GLUD1 100.00 1 NM_005271.5
    HADH 100.00 1 NM_005327.7
    INSR 100.00 1 NM_000208.4
    KCNJ11 100.00 1 NM_000525.4
    LIPE 100.00 1 NM_005357.4
    LMNA 100.00 1 NM_170707.4
    PCNT 100.00 1 NM_006031.6
    PCYT1A 100.00 1 NM_001312673.2
    PIK3R1 100.00 1 NM_181523.3
    POLD1 100.00 1 NM_002691.4
    PPARG 100.00 1 NM_138711.6
    SLC16A1 100.00 1 NM_003051.4
    WRN 100.00 1 NM_000553.6
    ZMPSTE24 100.00 1 NM_005857.5
    HNF1A 100.00 1 NM_000545.8
    HNF4A 100.00 1 NM_175914.5
    MAFA 100.00 1 NM_201589.4
    PLAAT3 100.00 1 NM_001128203.2
    PPP1R3A 100.00 1 NM_002711.4
    UCP2 100.00 1 NM_003355.3
  • MODY (7 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    GCK
    HNF1A
    HNF4A
    HNF1B
    INS
    ABCC8
    KCNJ11
  • MODY - Maturity onset Diabete of the Young (21 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC8 100.00 1 no
    GCK 100.00 1 no
    HNF1A 100.00 1 no
    HNF1B 100.00 1 no
    HNF4A 100.00 1 no
    INS 100.00 1 no
    KCNJ11 100.00 1 no
    APPL1 100.00 1 no
    BLK 100.00 1 no
    CEL 100.00 1 no
    GLUD1 100.00 1 no
    HADH 100.00 1 no
    KLF11 100.00 1 no
    INSR 100.00 1 no
    NEUROD1 100.00 1 no
    PAX4 100.00 1 no
    PDHX 100.00 1 no
    SLC16A1 100.00 1 no
    SLC16A12 100.00 1 no
    SLC5A2 100.00 1 no
    ZFP57 100.00 1 no
  • Maffucci syndrome (65 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABL1 0.00 0 Only hotspots in the gene
    AKT1 0.00 0 Only hotspots in the gene
    ALK 0.00 0 Only hotspots in the gene
    APC 0.00 0 Only hotspots in the gene
    ATM 0.00 0 Only hotspots in the gene
    BRAF 0.00 0 Only hotspots in the gene
    BRCA1 0.00 0 Only hotspots in the gene
    BRCA2 0.00 0 Only hotspots in the gene
    CDH1 0.00 0 Only hotspots in the gene
    CDKN2A 0.00 0 Only hotspots in the gene
    CSF1R 0.00 0 Only hotspots in the gene
    CTNNB1 0.00 0 Only hotspots in the gene
    DDR2 0.00 0 Only hotspots in the gene
    DNMT3A 0.00 0 Only hotspots in the gene
    EGFR 0.00 0 Only hotspots in the gene
    ERBB2 0.00 0 Only hotspots in the gene
    ERBB3 0.00 0 Only hotspots in the gene
    ERBB4 0.00 0 Only hotspots in the gene
    EZH2 0.00 0 Only hotspots in the gene
    FBXW7 0.00 0 Only hotspots in the gene
    FGFR1 0.00 0 Only hotspots in the gene
    FGFR2 0.00 0 Only hotspots in the gene
    FGFR3 0.00 0 Only hotspots in the gene
    FLT3 0.00 0 Only hotspots in the gene
    FOXL2 0.00 0 Only hotspots in the gene
    GNA11 0.00 0 Only hotspots in the gene
    GNAQ 0.00 0 Only hotspots in the gene
    GNAS 0.00 0 Only hotspots in the gene
    HNF1A 0.00 0 Only hotspots in the gene
    HRAS 0.00 0 Only hotspots in the gene
    IDH1 0.00 0 Only hotspots in the gene
    IDH2 0.00 0 Only hotspots in the gene
    JAK2 0.00 0 Only hotspots in the gene
    JAK3 0.00 0 Only hotspots in the gene
    KDR 0.00 0 Only hotspots in the gene
    KIT 0.00 0 Only hotspots in the gene
    KRAS 0.00 0 Only hotspots in the gene
    MAP2K1 0.00 0 Only hotspots in the gene
    MET 0.00 0 Only hotspots in the gene
    MLH1 0.00 0 Only hotspots in the gene
    MPL 0.00 0 Only hotspots in the gene
    MSH6 0.00 0 Only hotspots in the gene
    MTOR 0.00 0 Only hotspots in the gene
    NF1 0.00 0 Only hotspots in the gene
    NF2 0.00 0 Only hotspots in the gene
    NOTCH1 0.00 0 Only hotspots in the gene
    NPM1 0.00 0 Only hotspots in the gene
    NRAS 0.00 0 Only hotspots in the gene
    PDGFRA 0.00 0 Only hotspots in the gene
    PIK3CA 0.00 0 Only hotspots in the gene
    PIK3R1 0.00 0 Only hotspots in the gene
    PTCH1 0.00 0 Only hotspots in the gene
    PTEN 0.00 0 Only hotspots in the gene
    PTPN11 0.00 0 Only hotspots in the gene
    RB1 0.00 0 Only hotspots in the gene
    RET 0.00 0 Only hotspots in the gene
    SMAD4 0.00 0 Only hotspots in the gene
    SMARCB1 0.00 0 Only hotspots in the gene
    SMO 0.00 0 Only hotspots in the gene
    SRC 0.00 0 Only hotspots in the gene
    STK11 0.00 0 Only hotspots in the gene
    TERT 0.00 0 Only hotspots in the gene
    TP53 0.00 0 Only hotspots in the gene
    TSC1 0.00 0 Only hotspots in the gene
    VHL 0.00 0 Only hotspots in the gene
  • Nephropathies, hereditary (219 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACE 95.00 0 NM_000789.4
    ACTN4 95.00 0 NM_004924.6
    AGT 95.00 0 NM_001384479.1
    AGTR1 95.00 0 NM_031850.4
    AGXT 95.00 0 NM_000030.3
    ALG5 95.00 0 NM_013338.5
    ALG8 95.00 0 NM_024079.5
    ALG9 95.00 0 NM_024740.2
    AMN 95.00 0 NM_030943.4
    ANKS6 95.00 0 NM_173551.5
    ANLN 95.00 0 NM_018685.5
    ANOS1 95.00 0 NM_000216.4
    AP2S1 95.00 0 NM_004069.6
    APOA1 95.00 0 NM_000039.3
    APOA2 95.00 0 NM_001643.2
    APOC2 95.00 0 NM_000483.5
    APOE 95.00 0 NM_000041.4
    APOL1 95.00 0 NM_003661.4
    APRT 95.00 0 NM_000485.3
    ARHGAP24 95.00 0 NM_001025616.3
    ARHGDIA 95.00 0 NM_001185077.3
    ATP6V0A4 95.00 0 NM_020632.3
    ATP6V1B1 95.00 0 NM_001692.4
    BMP4 95.00 0 NM_001202.6
    BNC2 95.00 0 NM_017637.6
    BSND 95.00 0 NM_057176.3
    C3 95.00 0 NM_000064.4
    CA2 95.00 0 NM_000067.3
    CACNA1D 95.00 0 NM_000720.4
    CACNA1H 95.00 0 NM_021098.3
    CASR 95.00 0 NM_000388.4
    CD2AP 95.00 0 NM_012120.3
    CD46 95.00 0 NM_002389.4
    CDC73 95.00 0 NM_024529.5
    CDK20 95.00 0 NM_001039803.3
    CEP164 95.00 0 NM_014956.5
    CEP290 95.00 0 NM_025114.4
    CEP83 95.00 0 NM_016122.3
    CFB 95.00 0 NM_001710.6
    CFH 95.00 0 NM_000186.4
    CFHR1 95.00 0 NM_002113.3
    CFHR3 95.00 0 NM_021023.6
    CFHR5 95.00 0 NM_030787.4
    CFI 95.00 0 NM_000204.5
    CLCN2 95.00 0 NM_004366.6
    CLCN5 95.00 0 NM_000084.5
    CLCNKA 95.00 0 NM_004070.4
    CLCNKB 95.00 0 NM_000085.5
    CLDN10 95.00 0 NM_006984.5
    CLDN16 95.00 0 NM_006580.4
    CLDN19 95.00 0 NM_148960.3
    CNNM2 95.00 0 NM_017649.5
    COL4A1 95.00 0 NM_001845.6
    COL4A3 95.00 0 NM_000091.5
    COL4A4 95.00 0 NM_000092.5
    COL4A5 95.00 0 NM_000495.5
    COQ2 95.00 0 NM_015697.9
    COQ6 95.00 0 NM_182476.3
    COQ8B 95.00 0 NM_024876.4
    CRB2 95.00 0 NM_173689.7
    CTNS 95.00 0 NM_004937.3
    CUBN 95.00 0 NM_001081.4
    CUL3 95.00 0 NM_003590.5
    CYP11B1 95.00 0 NM_000497.4
    CYP11B2 95.00 0 NM_000498.3
    CYP17A1 95.00 0 NM_000102.4
    CYP24A1 95.00 0 NM_000782.5
    DAAM2 95.00 0 NM_001201427.2
    DGKE 95.00 0 NM_003647.3
    DLEC1 95.00 0 NM_182643.3
    DNAJB11 95.00 0 NM_016306.6
    DSTYK 95.00 0 NM_015375.3
    DZIP1L 95.00 0 NM_173543.3
    EGF 95.00 0 NM_001963.6
    EHHADH 95.00 0 NM_001966.4
    EMP2 95.00 0 NM_001424.6
    EYA1 95.00 0 NM_000503.6
    FAM20A 95.00 0 NM_017565.4
    FAN1 95.00 0 NM_014967.5
    FAT1 95.00 0 NM_005245.4
    FGA 95.00 0 NM_021871.4
    FGF20 95.00 0 NM_019851.3
    FGF23 95.00 0 NM_020638.3
    FN1 95.00 0 NM_212482.4
    FOXC1 95.00 0 NM_001453.3
    FOXC2 95.00 0 NM_005251.3
    FOXI1 95.00 0 NM_012188.5
    FXYD2 95.00 0 NM_001680.5
    GANAB 95.00 0 NM_198335.4
    GATA3 95.00 0 NM_001002295.2
    GATM 95.00 0 NM_001482.3
    GDNF 95.00 0 NM_000514.4
    GLA 95.00 0 NM_000169.3
    GLIS2 95.00 0 NM_032575.3
    GNA11 95.00 0 NM_002067.5
    GREB1L 95.00 0 NM_001142966.3
    GRHPR 95.00 0 NM_012203.2
    GRIP1 95.00 0 NM_021150.4
    GSN 95.00 0 NM_000177.5
    HNF1A 95.00 0 NM_000545.8
    HNF1B 95.00 0 NM_000458.4
    HNF4A 95.00 0 NM_175914.5
    HOGA1 95.00 0 NM_138413.4
    HOXA13 95.00 0 NM_000522.5
    HPRT1 95.00 0 NM_000194.3
    HSD11B2 95.00 0 NM_000196.4
    IFT140 95.00 0 NM_014714.4
    IFT81 95.00 0 NM_014055.4
    INF2 95.00 0 NM_022489.4
    INVS 95.00 0 NM_014425.5
    ITGA8 95.00 0 NM_003638.3
    ITSN1 95.00 0 NM_003024.3
    ITSN2 95.00 0 NM_147152.3
    JAG1 95.00 0 NM_000214.3
    KANK2 95.00 0 NM_001136191.3
    KCNA1 95.00 0 NM_000217.3
    KCNJ1 95.00 0 NM_000220.6
    KCNJ10 95.00 0 NM_002241.5
    KCNJ5 95.00 0 NM_000890.5
    KIRREL1 95.00 0 NM_018240.7
    KL 95.00 0 NM_004795.4
    KLHL3 95.00 0 NM_017415.3
    LAMB2 95.00 0 NM_002292.4
    LCAT 95.00 0 NM_000229.2
    LDHD 95.00 0 NM_153486.4
    LHX1 95.00 0 NM_005568.5
    LIFR 95.00 0 NM_002310.6
    LMX1B 95.00 0 NM_002316.4
    LYZ 95.00 0 NM_000239.3
    MAGED2 95.00 0 NM_177433.3
    MAGI2 95.00 0 NM_012301.4
    MAPKBP1 95.00 0 NM_001128608.2
    MMACHC 95.00 0 NM_015506.3
    MOCOS 95.00 0 NM_017947.4
    MTX2 95.00 0 NM_006554.5
    MUC1 95.00 0 NM_002456.6
    MYH9 95.00 0 NM_002473.6
    MYO1E 95.00 0 NM_004998.4
    NEK8 95.00 0 NM_178170.3
    NOTCH2 95.00 0 NM_024408.4
    NPHP1 95.00 0 NM_000272.5
    NPHP3 95.00 0 NM_153240.5
    NPHP4 95.00 0 NM_015102.5
    NPHS1 95.00 0 NM_004646.4
    NPHS2 95.00 0 NM_014625.4
    NR3C1 95.00 0 NM_001018077.1
    NR3C2 95.00 0 NM_000901.5
    NUP107 95.00 0 NM_020401.4
    NUP133 95.00 0 NM_018230.3
    NUP160 95.00 0 NM_015231.3
    NUP85 95.00 0 NM_024844.5
    NUP93 95.00 0 NM_014669.5
    OCRL 95.00 0 NM_000276.4
    OFD1 95.00 0 NM_003611.3
    PAX2 95.00 0 NM_003987.5
    PBX1 95.00 0 NM_002585.4
    PCBD1 95.00 0 NM_000281.4
    PDSS2 95.00 0 NM_020381.4
    PHEX 95.00 0 NM_000444.6
    PKD1 95.00 0 NM_001009944.3
    PKD2 95.00 0 NM_000297.4
    PKHD1 95.00 0 NM_138694.4
    PLCE1 95.00 0 NM_016341.4
    PODXL 95.00 0 NM_005397.4
    PRPS1 95.00 0 NM_002764.4
    PTPRO 95.00 0 NM_030667.3
    REN 95.00 0 NM_000537.4
    RET 95.00 0 NM_020975.6
    ROBO2 95.00 0 NM_002942.5
    SALL1 95.00 0 NM_002968.3
    SARS2 95.00 0 NM_017827.4
    SCARB2 95.00 0 NM_005506.4
    SCNN1A 95.00 0 NM_001038.6
    SCNN1B 95.00 0 NM_000336.3
    SCNN1G 95.00 0 NM_001039.4
    SDCCAG8 95.00 0 NM_006642.5
    SEC61A1 95.00 0 NM_013336.4
    SGPL1 95.00 0 NM_003901.4
    SIX1 95.00 0 NM_005982.4
    SIX5 95.00 0 NM_175875.5
    SLC12A1 95.00 0 NM_000338.3
    SLC12A3 95.00 0 NM_000339.3
    SLC22A12 95.00 0 NM_144585.4
    SLC26A1 95.00 0 NM_213613.4
    SLC2A2 95.00 0 NM_000340.2
    SLC2A9 95.00 0 NM_020041.3
    SLC34A1 95.00 0 NM_003052.5
    SLC34A3 95.00 0 NM_080877.3
    SLC3A1 95.00 0 NM_000341.4
    SLC4A1 95.00 0 NM_000342.4
    SLC4A4 95.00 0 NM_003759.4
    SLC5A2 95.00 0 NM_003041.4
    SLC7A9 95.00 0 NM_014270.5
    SLIT2 95.00 0 NM_004787.4
    SMARCAL1 95.00 0 NM_014140.4
    TBC1D1 95.00 0 NM_015173.4
    TBC1D8B 95.00 0 NM_017752.3
    TBX18 95.00 0 NM_001080508.3
    TNS2 95.00 0 NM_015319.2
    TRAF3IP1 95.00 0 NM_015650.4
    TRAP1 95.00 0 NM_016292.3
    TRIM8 95.00 0 NM_030912.3
    TRPC6 95.00 0 NM_004621.6
    TRPM6 95.00 0 NM_017662.5
    TSC1 95.00 0 NM_000368.5
    TSC2 95.00 0 NM_000548.5
    TTC21B 95.00 0 NM_024753.5
    TTR 95.00 0 NM_000371.4
    UMOD 95.00 0 NM_003361.4
    VHL 95.00 0 NM_000551.4
    WDR19 95.00 0 NM_025132.4
    WDR72 95.00 0 NM_182758.4
    WFS1 95.00 0 NM_006005.3
    WNK1 95.00 0 NM_018979.4
    WNK4 95.00 0 NM_032387.5
    WNT4 95.00 0 NM_030761.5
    WT1 95.00 0 NM_024426.6
    XDH 95.00 0 NM_000379.4
    XPNPEP3 95.00 0 NM_022098.4
  • Overgrowth & vascular anomalies (65 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABL1 0.00 0 Only hotspots in the gene
    AKT1 0.00 0 Only hotspots in the gene
    ALK 0.00 0 Only hotspots in the gene
    APC 0.00 0 Only hotspots in the gene
    ATM 0.00 0 Only hotspots in the gene
    BRAF 0.00 0 Only hotspots in the gene
    BRCA1 0.00 0 Only hotspots in the gene
    BRCA2 0.00 0 Only hotspots in the gene
    CDH1 0.00 0 Only hotspots in the gene
    CDKN2A 0.00 0 Only hotspots in the gene
    CSF1R 0.00 0 Only hotspots in the gene
    CTNNB1 0.00 0 Only hotspots in the gene
    DDR2 0.00 0 Only hotspots in the gene
    DNMT3A 0.00 0 Only hotspots in the gene
    EGFR 0.00 0 Only hotspots in the gene
    ERBB2 0.00 0 Only hotspots in the gene
    ERBB3 0.00 0 Only hotspots in the gene
    ERBB4 0.00 0 Only hotspots in the gene
    EZH2 0.00 0 Only hotspots in the gene
    FBXW7 0.00 0 Only hotspots in the gene
    FGFR1 0.00 0 Only hotspots in the gene
    FGFR2 0.00 0 Only hotspots in the gene
    FGFR3 0.00 0 Only hotspots in the gene
    FLT3 0.00 0 Only hotspots in the gene
    FOXL2 0.00 0 Only hotspots in the gene
    GNA11 0.00 0 Only hotspots in the gene
    GNAQ 0.00 0 Only hotspots in the gene
    GNAS 0.00 0 Only hotspots in the gene
    HNF1A 0.00 0 Only hotspots in the gene
    HRAS 0.00 0 Only hotspots in the gene
    IDH1 0.00 0 Only hotspots in the gene
    IDH2 0.00 0 Only hotspots in the gene
    JAK2 0.00 0 Only hotspots in the gene
    JAK3 0.00 0 Only hotspots in the gene
    KDR 0.00 0 Only hotspots in the gene
    KIT 0.00 0 Only hotspots in the gene
    KRAS 0.00 0 Only hotspots in the gene
    MAP2K1 0.00 0 Only hotspots in the gene
    MET 0.00 0 Only hotspots in the gene
    MLH1 0.00 0 Only hotspots in the gene
    MPL 0.00 0 Only hotspots in the gene
    MSH6 0.00 0 Only hotspots in the gene
    MTOR 0.00 0 Only hotspots in the gene
    NF1 0.00 0 Only hotspots in the gene
    NF2 0.00 0 Only hotspots in the gene
    NOTCH1 0.00 0 Only hotspots in the gene
    NPM1 0.00 0 Only hotspots in the gene
    NRAS 0.00 0 Only hotspots in the gene
    PDGFRA 0.00 0 Only hotspots in the gene
    PIK3CA 0.00 0 Only hotspots in the gene
    PIK3R1 0.00 0 Only hotspots in the gene
    PTCH1 0.00 0 Only hotspots in the gene
    PTEN 0.00 0 Only hotspots in the gene
    PTPN11 0.00 0 Only hotspots in the gene
    RB1 0.00 0 Only hotspots in the gene
    RET 0.00 0 Only hotspots in the gene
    SMAD4 0.00 0 Only hotspots in the gene
    SMARCB1 0.00 0 Only hotspots in the gene
    SMO 0.00 0 Only hotspots in the gene
    SRC 0.00 0 Only hotspots in the gene
    STK11 0.00 0 Only hotspots in the gene
    TERT 0.00 0 Only hotspots in the gene
    TP53 0.00 0 Only hotspots in the gene
    TSC1 0.00 0 Only hotspots in the gene
    VHL 0.00 0 Only hotspots in the gene
  • Sturge-Weber syndrome (65 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABL1 0.00 0 Only hotspots in the gene
    AKT1 0.00 0 Only hotspots in the gene
    ALK 0.00 0 Only hotspots in the gene
    APC 0.00 0 Only hotspots in the gene
    ATM 0.00 0 Only hotspots in the gene
    BRAF 0.00 0 Only hotspots in the gene
    BRCA1 0.00 0 Only hotspots in the gene
    BRCA2 0.00 0 Only hotspots in the gene
    CDH1 0.00 0 Only hotspots in the gene
    CDKN2A 0.00 0 Only hotspots in the gene
    CSF1R 0.00 0 Only hotspots in the gene
    CTNNB1 0.00 0 Only hotspots in the gene
    DDR2 0.00 0 Only hotspots in the gene
    DNMT3A 0.00 0 Only hotspots in the gene
    EGFR 0.00 0 Only hotspots in the gene
    ERBB2 0.00 0 Only hotspots in the gene
    ERBB3 0.00 0 Only hotspots in the gene
    ERBB4 0.00 0 Only hotspots in the gene
    EZH2 0.00 0 Only hotspots in the gene
    FBXW7 0.00 0 Only hotspots in the gene
    FGFR1 0.00 0 Only hotspots in the gene
    FGFR2 0.00 0 Only hotspots in the gene
    FGFR3 0.00 0 Only hotspots in the gene
    FLT3 0.00 0 Only hotspots in the gene
    FOXL2 0.00 0 Only hotspots in the gene
    GNA11 0.00 0 Only hotspots in the gene
    GNAQ 0.00 0 Only hotspots in the gene
    GNAS 0.00 0 Only hotspots in the gene
    HNF1A 0.00 0 Only hotspots in the gene
    HRAS 0.00 0 Only hotspots in the gene
    IDH1 0.00 0 Only hotspots in the gene
    IDH2 0.00 0 Only hotspots in the gene
    JAK2 0.00 0 Only hotspots in the gene
    JAK3 0.00 0 Only hotspots in the gene
    KDR 0.00 0 Only hotspots in the gene
    KIT 0.00 0 Only hotspots in the gene
    KRAS 0.00 0 Only hotspots in the gene
    MAP2K1 0.00 0 Only hotspots in the gene
    MET 0.00 0 Only hotspots in the gene
    MLH1 0.00 0 Only hotspots in the gene
    MPL 0.00 0 Only hotspots in the gene
    MSH6 0.00 0 Only hotspots in the gene
    MTOR 0.00 0 Only hotspots in the gene
    NF1 0.00 0 Only hotspots in the gene
    NF2 0.00 0 Only hotspots in the gene
    NOTCH1 0.00 0 Only hotspots in the gene
    NPM1 0.00 0 Only hotspots in the gene
    NRAS 0.00 0 Only hotspots in the gene
    PDGFRA 0.00 0 Only hotspots in the gene
    PIK3CA 0.00 0 Only hotspots in the gene
    PIK3R1 0.00 0 Only hotspots in the gene
    PTCH1 0.00 0 Only hotspots in the gene
    PTEN 0.00 0 Only hotspots in the gene
    PTPN11 0.00 0 Only hotspots in the gene
    RB1 0.00 0 Only hotspots in the gene
    RET 0.00 0 Only hotspots in the gene
    SMAD4 0.00 0 Only hotspots in the gene
    SMARCB1 0.00 0 Only hotspots in the gene
    SMO 0.00 0 Only hotspots in the gene
    SRC 0.00 0 Only hotspots in the gene
    STK11 0.00 0 Only hotspots in the gene
    TERT 0.00 0 Only hotspots in the gene
    TP53 0.00 0 Only hotspots in the gene
    TSC1 0.00 0 Only hotspots in the gene
    VHL 0.00 0 Only hotspots in the gene
  • Tubulopathy/Nephrolithiasis (106 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADCY10 100.00 1 NM_018417.6
    AGXT 100.00 1 NM_000030.3
    ALDOB 100.00 1 NM_000035.4
    ALPL 100.00 1 NM_000478.6
    AP2S1 100.00 1 NM_004069.6
    AQP2 100.00 1 NM_000486.6
    ATP6V0A4 100.00 1 NM_020632.3
    ATP6V1B1 100.00 1 NM_001692.4
    ATP7B 100.00 1 NM_000053.4
    AVPR2 100.00 1 NM_000054.7
    BSND 100.00 1 NM_057176.3
    CASR 100.00 1 NM_000388.4
    CLCN5 100.00 1 NM_001127898.4
    CLCNKB 100.00 1 NM_000085.5
    CLDN10 100.00 1 NM_006984.5
    CLDN16 100.00 1 NM_006580.4
    CLDN19 100.00 1 NM_148960.3
    CNNM2 100.00 1 NM_017649.5
    CTNS 100.00 1 NM_004937.3
    CUL3 100.00 1 NM_003590.5
    CYP24A1 100.00 1 NM_000782.5
    EGF 100.00 1 NM_001963.6
    EGFR 100.00 1 NM_005228.5
    EHHADH 100.00 1 NM_001966.4
    FAH 100.00 1 NM_000137.4
    FAN1 100.00 1 NM_014967.5
    FGF23 100.00 1 NM_020638.3
    FXYD2 100.00 1 NM_001680.5
    G6PC1 100.00 1 NM_000151.4
    GALT 100.00 1 NM_000155.4
    GATM 100.00 1 NM_001482.3
    GNA11 100.00 1 NM_002067.5
    GRHPR 100.00 1 NM_012203.2
    HNF1B 100.00 1 NM_000458.4
    HOGA1 100.00 1 NM_138413.4
    HSD11B2 100.00 1 NM_000196.4
    KCNJ1 100.00 1 NM_153766.3
    KCNJ10 100.00 1 NM_002241.5
    KLHL3 100.00 1 NM_017415.3
    MAGED2 100.00 1 NM_177433.3
    NR3C2 100.00 1 NM_000901.5
    OCRL 100.00 1 NM_000276.4
    PCBD1 100.00 1 NM_000281.4
    PHEX 100.00 1 NM_000444.6
    REN 100.00 1 NM_000537.4
    SCNN1A 100.00 1 NM_001038.6
    SCNN1B 100.00 1 NM_000336.3
    SCNN1G 100.00 1 NM_001039.4
    SEC61A1 100.00 1 NM_013336.4
    SLC12A1 100.00 1 NM_000338.3
    SLC12A3 100.00 1 NM_001126108.2
    SLC2A2 100.00 1 NM_000340.2
    SLC34A1 100.00 1 NM_003052.5
    SLC34A3 100.00 1 NM_001177316.2
    SLC3A1 100.00 1 NM_000341.4
    SLC4A1 100.00 1 NM_000342.4
    SLC4A4 100.00 1 NM_001098484.3
    SLC5A2 100.00 1 NM_003041.4
    SLC7A9 100.00 1 NM_014270.5
    NHERF1 100.00 1 NM_004252.5
    TRPM6 100.00 1 NM_017662.5
    UMOD 100.00 1 NM_003361.4
    VDR 100.00 1 NM_000376.3
    VIPAS39 100.00 1 NM_001193315.2
    VPS33B 100.00 1 NM_018668.5
    WNK1 100.00 1 NM_018979.4
    WNK4 100.00 1 NM_032387.5
    AGTR1 100.00 1 NM_000685.5
    APRT 100.00 1 NM_000485.3
    CA2 100.00 1 NM_000067.3
    CACNA1H 100.00 1 NM_021098.3
    CLCN2 100.00 1 NM_004366.6
    CLCNKA 100.00 1 NM_004070.4
    CYP11B1 100.00 1 NM_000497.4
    CYP17A1 100.00 1 NM_000102.4
    DMP1 100.00 1 NM_004407.4
    ENPP1 100.00 1 NM_006208.3
    FANCA 100.00 1 no
    FAM20A 100.00 1 NM_017565.4
    FOXI1 100.00 1 NM_012188.5
    HNF1A 100.00 1 NM_000545.8
    HNF4A 100.00 1 NM_175914.5
    HPRT1 100.00 1 NM_000194.3
    KCNJ16 100.00 1 NM_170741.4
    KCNJ5 100.00 1 NM_000890.5
    KL 100.00 1 NM_004795.4
    LAGE3 100.00 1 NM_006014.5
    LDHD 100.00 1 NM_194436.3
    LRP2 100.00 1 NM_004525.3
    MEN1 100.00 1 NM_001370259.2
    MOCOS 100.00 1 NM_017947.4
    PRPS1 100.00 1 NM_002764.4
    SLC16A12 100.00 1 NM_213606.4
    SLC22A12 100.00 1 NM_144585.4
    SLC2A9 100.00 1 NM_020041.3
    SLC36A2 100.00 1 NM_181776.3
    SLC5A1 100.00 1 NM_000343.4
    SLC6A19 100.00 1 NM_001003841.3
    SLC6A20 100.00 1 NM_020208.4
    WDR72 100.00 1 NM_182758.4
    WFS1 100.00 1 NM_006005.3
    XDH 100.00 1 NM_000379.4
    AGT 100.00 1 NM_001384479.1
    CDC73 100.00 1 NM_024529.5
    RRAGD 100.00 1 NM_021244.5
    SLC26A1 100.00 1 NM_022042.4
    SLC41A1 100.00 1 NM_173854.6