General Information of Disease (ID: DISPJ9QY)

Disease Name Heterotaxy, visceral, 2, autosomal
Synonyms Htx; HTX2; DTGA2; transposition of the great arteries, dextro-looped 2; heterotaxy, visceral, 2, autosomal
Disease Hierarchy
DIS1DV90: Visceral heterotaxy
DISPXJ8X: Transposition of the great arteries
DISPJ9QY: Heterotaxy, visceral, 2, autosomal
Disease Identifiers
MONDO ID
MONDO_0011546
UMLS CUI
C1415817
OMIM ID
605376
MedGen ID
237904

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ACVR2B TTLFRKS Strong Biomarker [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NT5C1A OTS7UF36 Disputed Genetic Variation [2]
CFC1 OT5DHGI8 Strong Autosomal dominant [3]
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References

1 The signaling pathway mediated by the type IIB activin receptor controls axial patterning and lateral asymmetry in the mouse.Genes Dev. 1997 Jul 15;11(14):1812-26. doi: 10.1101/gad.11.14.1812.
2 Effect of Calcineurin Inhibitor-Free, Everolimus-Based Immunosuppressive Regimen on Albuminuria and Glomerular Filtration Rate After Heart Transplantation.Transplantation. 2017 Nov;101(11):2793-2800. doi: 10.1097/TP.0000000000001706.
3 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.