Gene Symbol:
MYH11
HGNC:7569
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
16p13.11
Filters:

Definitive classifications

familial thoracic aortic aneurysm and aortic dissection
AD
07/03/2016
Evaluated
01/16/2023
Submitted

Strong classifications

aortic aneurysm, familial thoracic 4
Submitted as: OMIM:132900
AD
03/26/2018
Evaluated
03/02/2021
Submitted
megacystis-microcolon-intestinal hypoperistalsis syndrome 2
Submitted as: OMIM:619351
AR
03/21/2020
Evaluated
02/03/2022
Submitted

Supportive classifications

megacystis-microcolon-intestinal hypoperistalsis syndrome
Submitted as: Orphanet:2241
AD
09/14/2021
Evaluated
09/14/2021
Submitted
familial thoracic aortic aneurysm and aortic dissection
Submitted as: Orphanet:91387
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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