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Pulmonary venoocclusive disease

Disease Export to PDF
Name:
Pulmonary venoocclusive disease
ORPHAcode:
31837
XREF(s):
Orphanet
ICD-10
MeSH
OMIM
MedDRA
Analyte(s):
BMPR2
EIF2AK4
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • 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
  • Primary Arterial Hypertension (19 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACVRL1 100.00 0 NM_000020.2
    AQP1 100.00 0 NM_198098.3
    ATP13A3 100.00 0 NM_024524.3
    BMPR1B 100.00 0 NM_001203.2
    BMPR2 100.00 0 NM_001204.6
    CAV1 100.00 0 NM_001753.4
    EIF2AK4 100.00 0 NM_001013703.3
    ENG 100.00 0 NM_000118.3
    EPHB4 100.00 0 NM_004444.4
    GDF2 100.00 0 NM_016204.3
    KCNA5 100.00 0 NM_002234.3
    KCNK3 100.00 0 NM_002246.2
    KDR 100.00 0 NM_002253.3
    RASA1 100.00 0 NM_002890.3
    SMAD4 100.00 0 NM_005359.5
    SMAD9 100.00 0 NM_001127217.2
    SOX17 100.00 0 NM_022454.3
    TBX4 100.00 0 NM_018488.3
    SMAD1 100.00 0 NM_005900.3