Gene Symbol:
EIF2AK4
HGNC:19687
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
15q15.1
Filters:

Definitive classifications

pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
AR
12/02/2022
Evaluated
10/18/2023
Submitted

Strong classifications

pulmonary venoocclusive disease 2
Submitted as: OMIM:234810
AR
12/09/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

pulmonary venoocclusive disease
Submitted as: Orphanet:31837
AR
09/14/2021
Evaluated
09/14/2021
Submitted
pulmonary venoocclusive disease 2
Submitted as: Orphanet:199241
AD
09/14/2021
Evaluated
09/14/2021
Submitted
heritable pulmonary arterial hypertension
Submitted as: Orphanet:275777
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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