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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MalaCards based summary: 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:46 306955

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

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Congenital Heart Defects, Nonsyndromic, 1, X-Linked, Aliases & Descriptions:

Name: Congenital Heart Defects, Nonsyndromic, 1, X-Linked 46


Classifications:

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


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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Clinical features from OMIM:

306955

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

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Drug clinical trials:

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

Search NIH Clinical Center for Congenital Heart Defects, Nonsyndromic, 1, X-Linked

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

32
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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UniProtKB/Swiss-Prot genetic disease variations for Congenital Heart Defects, Nonsyndromic, 1, X-Linked:

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id Symbol AA change Variation ID SNP ID
1ZIC3p.Thr323MetVAR_007753
2ZIC3p.Pro217AlaVAR_025632
3ZIC3p.Pro217AlaVAR_025632
4ZIC3p.Cys253SerVAR_025633
5ZIC3p.His286ArgVAR_025634
6ZIC3p.Lys405GluVAR_025635
7ZIC3p.Trp255GlyVAR_042416
8ZIC3p.Ser109CysVAR_071332
9ZIC3p.Ala447GlyVAR_071334

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

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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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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

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet