Juha Muilu Group (Institute for Molecular Medicine Finland (FIMM))

General information

Juha Muilu Group
Institute for Molecular Medicine Finland (FIMM)
P.O. Box 20 (Tukholmankatu 8)
Helsinki
Finland

Organization ID: 500116

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 840

    Gene

    GeneSubmissionsLast Updated
    AGA21May 19, 2013
    AIRE4May 19, 2013
    AMN21May 19, 2013
    AMT17May 19, 2013
    B9D11May 19, 2013
    BCS1L4May 19, 2013
    CC2D2A21May 19, 2013
    CEP29012May 19, 2013
    CHM1May 19, 2013
    CLN354May 19, 2013
    CLN523May 19, 2013
    CLN818May 19, 2013
    CSTB6May 19, 2013
    CUBN28May 19, 2013
    FSHR6May 19, 2013
    GCSH1May 19, 2013
    GLDC78May 19, 2013
    GLE11May 19, 2013
    KERA3May 19, 2013
    LCT7May 19, 2013
    MKS116May 19, 2013
    NPHS1109May 19, 2013
    OAT33May 19, 2013
    POMGNT137May 19, 2013
    PPT150May 19, 2013
    RECQL413May 19, 2013
    RPGRIP1L2May 19, 2013
    SLC17A510May 19, 2013
    SLC26A219May 19, 2013
    SLC26A349May 19, 2013
    SLC7A739May 19, 2013
    TMEM2163May 19, 2013
    TMEM6730May 19, 2013
    TREM25May 19, 2013
    TRIM3712May 19, 2013
    TTN1May 19, 2013
    TWNK3May 19, 2013
    TYROBP4May 19, 2013
    VPS13B77May 19, 2013

    Condition

    NameSubmissionsLast Updated
    Aspartylglycosaminuria21May 19, 2013
    Ceroid lipofuscinosis neuronal 150May 19, 2013
    Ceroid lipofuscinosis neuronal 523May 19, 2013
    Ceroid lipofuscinosis neuronal 818May 19, 2013
    Choroideremia1May 19, 2013
    Cohen syndrome77May 19, 2013
    Congenital lactase deficiency7May 19, 2013
    Congenital secretory diarrhea, chloride type49May 19, 2013
    Cornea plana 23May 19, 2013
    Diastrophic dysplasia19May 19, 2013
    Distal myopathy Markesbery-Griggs type1May 19, 2013
    Finnish congenital nephrotic syndrome109May 19, 2013
    GRACILE syndrome4May 19, 2013
    Juvenile neuronal ceroid lipofuscinosis54May 19, 2013
    Lethal arthrogryposis with anterior horn cell disease1May 19, 2013
    Lysinuric protein intolerance40May 19, 2013
    Meckel syndrome type 116May 19, 2013
    Meckel syndrome type 23May 19, 2013
    Meckel syndrome type 330May 19, 2013
    Meckel syndrome type 412May 19, 2013
    Meckel syndrome type 52May 19, 2013
    Meckel syndrome type 621May 19, 2013
    Megaloblastic anemia due to inborn errors of metabolism49May 19, 2013
    Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)3May 19, 2013
    Mulibrey nanism syndrome12May 19, 2013
    Muscle eye brain disease37May 19, 2013
    Non-ketotic hyperglycinemia96May 19, 2013
    Ornithine aminotransferase deficiency33May 19, 2013
    Ovarian dysgenesis 16May 19, 2013
    Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy9May 19, 2013
    Polyglandular autoimmune syndrome, type 14May 19, 2013
    Rapadilino syndrome13May 19, 2013
    Salla disease10May 19, 2013
    Unverricht-Lundborg syndrome6May 19, 2013
    not provided1May 19, 2013