ARIH1:Ensemblv90

ariadne RBR E3 ubiquitin protein ligase 1
OMIM: 605624, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ARIH1 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.101

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Thoracic aortic aneurysm, MONDO:0005396, ARIH1-related

Green ARIH1 in Mendeliome


Version 1.3802

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Thoracic aortic aneurysm, MONDO:0005396, ARIH1-related

Green ARIH1 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Thoracic aortic aneurysm, MONDO:0005396, ARIH1-related