UniProtKB/Swiss-Prot

General information

UniProtKB/Swiss-Prot

Switzerland
http://www.uniprot.org/
Organization ID: 500133

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 921

    Gene

    GeneSubmissionsLast Updated
    ABCD41Mar 20, 2013
    ACTB4May 14, 2012
    ACTG19May 14, 2012
    ADA29Apr 28, 2011
    ADAMTS1333May 14, 2012
    AIRE15Jul 28, 2011
    ARSA60Apr 18, 2012
    BMP11Mar 20, 2013
    CACNA1A41Apr 28, 2011
    CARD1416Jul 5, 2012
    CBX22Apr 28, 2011
    CCBE15Apr 28, 2011
    CFHR55Mar 20, 2013
    CHST142Apr 28, 2011
    CYBA6Jul 28, 2011
    CYBB61Jun 3, 2011
    CYP26B12Jul 5, 2012
    DKC122Apr 28, 2011
    ENPP12Apr 28, 2011
    ERCC87Jul 5, 2012
    F1141Jun 7, 2012
    F11-AS110Jun 7, 2012
    FREM16Jun 7, 2012
    GFER1Apr 28, 2011
    GPR1794Jul 5, 2012
    HAX13Jul 28, 2011
    HCFC11Mar 20, 2013
    HTRA12Apr 28, 2011
    IKBKG10Jul 28, 2011
    INS21Apr 28, 2011
    INS-IGF221Apr 28, 2011
    ITGB24Jul 28, 2011
    ITK1Apr 28, 2011
    LOC102724058107Apr 28, 2011
    LOC1073033432Apr 28, 2011
    MATR31Apr 28, 2011
    MLC19May 14, 2012
    NCF217Apr 28, 2011
    NF173Mar 26, 2012
    OCRL35Apr 28, 2011
    PRX1Mar 20, 2013
    PYCR13May 14, 2012
    RAB7A4Jun 7, 2012
    RAG120Mar 9, 2012
    RTTN2Mar 20, 2013
    SARM13Jul 5, 2012
    SCN1A193Apr 28, 2011
    SEMA3A7Mar 20, 2013
    SERPING115Oct 19, 2012
    SGSH3Jul 5, 2012
    SKIV2L1Jul 5, 2012
    SLC33A11Jun 7, 2012
    SLC37A432Sep 27, 2011
    SLC46A110Jul 5, 2012
    SMAD47May 14, 2012
    SMARCA228Jul 5, 2012
    SMARCA45Jul 5, 2012
    TAC31Mar 20, 2013
    TACR32Mar 20, 2013
    TPP123Apr 28, 2011
    TRPV33Jun 7, 2012
    VAPB2Jun 7, 2012
    WDR116Mar 20, 2013
    WNT10A3Mar 20, 2013

    Condition

    NameSubmissionsLast Updated
    46,XY sex reversal, type 52Apr 28, 2011
    Amyotrophic lateral sclerosis 211Apr 28, 2011
    Autistic disorder of childhood onset2Apr 28, 2011
    CARASIL2Apr 28, 2011
    Ceroid lipofuscinosis neuronal 222Apr 28, 2011
    Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 214Apr 28, 2011
    Dent disease type 23Apr 28, 2011
    Diabetes mellitus, insulin-dependent, 21Apr 28, 2011
    Dyskeratosis congenita, X-linked22Apr 28, 2011
    Ehlers-Danlos syndrome, musculocontractural type2Apr 28, 2011
    Epileptic encephalopathy Lennox-Gastaut type1Apr 28, 2011
    Episodic ataxia type 220Apr 28, 2011
    Familial hemiplegic migraine type 115Apr 28, 2011
    Familial hemiplegic migraine type 34Apr 28, 2011
    Focal epilepsy3Apr 28, 2011
    Generalized epilepsy4Apr 28, 2011
    Generalized epilepsy with febrile seizures plus, type 123Apr 28, 2011
    Generalized epilepsy with febrile seizures plus, type 21Apr 28, 2011
    Hennekam lymphangiectasia-lymphedema syndrome 15Apr 28, 2011
    Hypophosphatemic rickets, autosomal recessive, 22Apr 28, 2011
    Lowe syndrome32Apr 28, 2011
    Lymphoproliferative syndrome 11Apr 28, 2011
    Maturity-onset diabetes of the young, type 103Apr 28, 2011
    Myoclonic encephalopathy1Apr 28, 2011
    Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay1Apr 28, 2011
    Permanent neonatal diabetes mellitus16Apr 28, 2011
    Severe combined immunodeficiency due to ADA deficiency29Apr 28, 2011
    Severe myoclonic epilepsy in infancy150Apr 28, 2011
    Spinocerebellar ataxia type 62Apr 28, 2011
    West syndrome1Apr 28, 2011
    not provided536Mar 20, 2013
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