MCID: CNG175

Congenital Heart Defects, Nonsyndromic, 1, X-Linked malady

Genetic diseases (common) category
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Summaries for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

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47OMIM, 33MalaCards
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MalaCards: Congenital Heart Defects, Nonsyndromic, 1, X-Linked An important gene associated with Congenital Heart Defects, Nonsyndromic, 1, X-Linked is ZIC3 (Zic family member 3). Affiliated tissues include heart.

Description from OMIM:47 306955

Aliases & Classifications for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

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47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

congenital heart defects, nonsyndromic, 1, x-linked 47


Related Diseases for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

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Symptoms for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

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47OMIM
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Clinical features from OMIM:

306955

Drugs & Therapeutics for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

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Genetic Tests for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

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Anatomical Context for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

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33MalaCards
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MalaCards organs/tissues related to Congenital Heart Defects, Nonsyndromic, 1, X-Linked:

33
Heart

Animal Models for Congenital Heart Defects, Nonsyndromic, 1, X-Linked or affiliated genes

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Publications for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

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Variations for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Congenital Heart Defects, Nonsyndromic, 1, X-Linked:

64
id Symbol AA change Variation ID SNP ID
1ZIC3p.Thr323MetVAR_007753
2ZIC3p.Pro217AlaVAR_025632
3ZIC3p.Cys253SerVAR_025633
4ZIC3p.His286ArgVAR_025634
5ZIC3p.Lys405GluVAR_025635
6ZIC3p.Trp255GlyVAR_042416

Clinvar genetic disease variations for Congenital Heart Defects, Nonsyndromic, 1, X-Linked:

1
id Gene Name Type Significance SNP ID Assembly Location
1ZIC3NM_003413.3(ZIC3): c.968C> T (p.Thr323Met)single nucleotide variantPathogenicrs122462165GRCh37Chr X, 136649818: 136649818
2ZIC3NM_003413.3(ZIC3): c.804C> A (p.Cys268Ter)single nucleotide variantPathogenicrs122462166GRCh37Chr X, 136649654: 136649654
3ZIC3NM_003413.3(ZIC3): c.745C> T (p.Gln249Ter)single nucleotide variantPathogenicrs104894960GRCh37Chr X, 136649595: 136649595
4ZIC3NM_003413.3(ZIC3): c.758G> C (p.Cys253Ser)single nucleotide variantPathogenicrs104894961GRCh37Chr X, 136649608: 136649608
5ZIC3NM_003413.3(ZIC3): c.1213A> G (p.Lys405Glu)single nucleotide variantPathogenicrs104894962GRCh37Chr X, 136651213: 136651213
6ZIC3ZIC3, 2-BP INS, 1507TTinsertionPathogenic
7ZIC3NM_003413.3(ZIC3): c.763T> G (p.Trp255Gly)single nucleotide variantPathogenicrs122463168GRCh37Chr X, 136649613: 136649613

Expression for genes affiliated with Congenital Heart Defects, Nonsyndromic, 1, X-Linked

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Heart Defects, Nonsyndromic, 1, X-Linked

Search GEO for disease gene expression data for Congenital Heart Defects, Nonsyndromic, 1, X-Linked.

Pathways for genes affiliated with Congenital Heart Defects, Nonsyndromic, 1, X-Linked

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Compounds for genes affiliated with Congenital Heart Defects, Nonsyndromic, 1, X-Linked

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GO Terms for genes affiliated with Congenital Heart Defects, Nonsyndromic, 1, X-Linked

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Products for genes affiliated with Congenital Heart Defects, Nonsyndromic, 1, X-Linked

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet