MCID: RRC028
MIFTS: 13

Rare Congenital Non-Syndromic Heart Malformation

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Rare Congenital Non-Syndromic Heart Malformation

MalaCards integrated aliases for Rare Congenital Non-Syndromic Heart Malformation:

Name: Rare Congenital Non-Syndromic Heart Malformation 58

Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

UMLS via Orphanet 72 C0018798
Orphanet 58 ORPHA88991

Summaries for Rare Congenital Non-Syndromic Heart Malformation

MalaCards based summary : Rare Congenital Non-Syndromic Heart Malformation is related to cor triatriatum dexter and heart, malformation of. An important gene associated with Rare Congenital Non-Syndromic Heart Malformation is JAG1 (Jagged Canonical Notch Ligand 1). Affiliated tissues include heart.

Related Diseases for Rare Congenital Non-Syndromic Heart Malformation

Graphical network of the top 20 diseases related to Rare Congenital Non-Syndromic Heart Malformation:



Diseases related to Rare Congenital Non-Syndromic Heart Malformation

Symptoms & Phenotypes for Rare Congenital Non-Syndromic Heart Malformation

Drugs & Therapeutics for Rare Congenital Non-Syndromic Heart Malformation

Search Clinical Trials , NIH Clinical Center for Rare Congenital Non-Syndromic Heart Malformation

Genetic Tests for Rare Congenital Non-Syndromic Heart Malformation

Anatomical Context for Rare Congenital Non-Syndromic Heart Malformation

MalaCards organs/tissues related to Rare Congenital Non-Syndromic Heart Malformation:

40
Heart

Publications for Rare Congenital Non-Syndromic Heart Malformation

Variations for Rare Congenital Non-Syndromic Heart Malformation

ClinVar genetic disease variations for Rare Congenital Non-Syndromic Heart Malformation:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBX5 NM_000192.3(TBX5):c.709C>T (p.Arg237Trp)SNV Pathogenic 7995 rs104894382 12:114823327-114823327 12:114385522-114385522
2 JAG1 NM_000214.3(JAG1):c.2118_2121CAGT[1] (p.Gln708fs)short repeat Pathogenic 177941 rs727504412 20:10625893-10625896 20:10645245-10645248
3 NKX2-5 NM_004387.4(NKX2-5):c.335-3C>GSNV Likely pathogenic 229066 rs876657934 5:172660215-172660215 5:173233212-173233212
4 NKX2-5 NM_004387.4(NKX2-5):c.400_402delinsAT (p.Arg134fs)indel Likely pathogenic 44835 rs397516908 5:172660145-172660147 5:173233142-173233144
5 TBX5 NM_000192.3(TBX5):c.301A>T (p.Ile101Phe)SNV Likely pathogenic 139662 rs515726234 12:114837379-114837379 12:114399574-114399574
6 MYH6 NM_002471.3(MYH6):c.2033A>G (p.Asn678Ser)SNV Likely pathogenic 139663 rs515726230 14:23866396-23866396 14:23397187-23397187
7 NOTCH1 NM_017617.5(NOTCH1):c.2014+1G>ASNV Likely pathogenic 139664 rs515726232 9:139409741-139409741 9:136515289-136515289
8 NOTCH1 NM_017617.5(NOTCH1):c.5061G>T (p.Gln1687His)SNV Likely pathogenic 139665 rs515726233 9:139397740-139397740 9:136503288-136503288
9 NOTCH1 NM_017617.5(NOTCH1):c.5281del (p.Arg1761fs)deletion Likely pathogenic 139666 rs515726231 9:139396827-139396827 9:136502375-136502375

Expression for Rare Congenital Non-Syndromic Heart Malformation

Search GEO for disease gene expression data for Rare Congenital Non-Syndromic Heart Malformation.

Pathways for Rare Congenital Non-Syndromic Heart Malformation

GO Terms for Rare Congenital Non-Syndromic Heart Malformation

Biological processes related to Rare Congenital Non-Syndromic Heart Malformation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell migration GO:0030336 8.62 TBX5 JAG1

Sources for Rare Congenital Non-Syndromic Heart Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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