MCID: RRC028
MIFTS: 8

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 59

Classifications:



External Ids:

UMLS via Orphanet 73 C0018798
Orphanet 59 ORPHA88991

Summaries for Rare Congenital Non-Syndromic Heart Malformation

MalaCards based summary : Rare Congenital Non-Syndromic Heart Malformation An important gene associated with Rare Congenital Non-Syndromic Heart Malformation is TBX5 (T-Box Transcription Factor 5). Affiliated tissues include heart.

Related Diseases for 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:

41
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TBX5 NM_000192.3(TBX5): c.709C> T (p.Arg237Trp) single nucleotide variant Pathogenic rs104894382 12:114823327-114823327 12:114385522-114385522
2 TBX5 NM_000192.3(TBX5): c.301A> T (p.Ile101Phe) single nucleotide variant Likely pathogenic rs515726234 12:114837379-114837379 12:114399574-114399574
3 MYH6 NM_002471.3(MYH6): c.2033A> G (p.Asn678Ser) single nucleotide variant Likely pathogenic rs515726230 14:23866396-23866396 14:23397187-23397187
4 NOTCH1 NM_017617.5(NOTCH1): c.2014+1G> A single nucleotide variant Likely pathogenic rs515726232 9:139409741-139409741 9:136515289-136515289
5 NOTCH1 NM_017617.5(NOTCH1): c.5061G> T (p.Gln1687His) single nucleotide variant Likely pathogenic rs515726233 9:139397740-139397740 9:136503288-136503288
6 NOTCH1 NM_017617.5(NOTCH1): c.5281del (p.Arg1761fs) deletion Likely pathogenic 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

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....