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  2. Complete atrioventricular canal-left heart obstruction syndrome

Complete atrioventricular canal-left heart obstruction syndrome

Disease Export to PDF
Name:
Complete atrioventricular canal-left heart obstruction syndrome
ORPHAcode:
99066
Synonyms:
CAVC-left heart obstruction syndrome
XREF(s):
Orphanet
Analyte(s):
CRELD1
GATA4
NR2F2
Created:
13 May 2019 - 01:02
Changed:
01 Feb 2020 - 12:07
  • Congenital heart disease (29 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ANK3 0.00 0 No value for column 2
    BMPR2 0.00 0 No value for column 2
    BRAF 0.00 0 No value for column 2
    CFC1 0.00 0 No value for column 2
    CITED2 0.00 0 No value for column 2
    CRELD1 0.00 0 No value for column 2
    GATA4 0.00 0 No value for column 2
    GATA5 0.00 0 No value for column 2
    GATA6 0.00 0 No value for column 2
    GDF1 0.00 0 No value for column 2
    GJA1 0.00 0 No value for column 2
    HAND1 0.00 0 No value for column 2
    HAND2 0.00 0 No value for column 2
    JAG1 0.00 0 No value for column 2
    KRAS 0.00 0 No value for column 2
    MAP2K1 0.00 0 No value for column 2
    MAP2K2 0.00 0 No value for column 2
    MED13L 0.00 0 No value for column 2
    NKX2-5 0.00 0 No value for column 2
    NKX2-6 0.00 0 No value for column 2
    PRKAG2 0.00 0 No value for column 2
    PRKAR1A 0.00 0 No value for column 2
    SMAD3 0.00 0 No value for column 2
    TBX1 0.00 0 No value for column 2
    TBX20 0.00 0 No value for column 2
    TBX3 0.00 0 No value for column 2
    TBX5 0.00 0 No value for column 2
    TLL1 0.00 0 No value for column 2
    ZFPM2 0.00 0 No value for column 2