Gene Symbol:
ABCG5
HGNC:13886
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2p21
Filters:

Definitive classifications

sitosterolemia 1
Submitted as: OMIM:210250
AR
06/25/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more

Strong classifications

sitosterolemia 1
Submitted as: OMIM:210250
AR
09/26/2019
Evaluated
02/03/2022
Submitted

Supportive classifications

sitosterolemia
Submitted as: Orphanet:2882
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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