Gene Symbol:
ASAH1
HGNC:735
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
8p22
Filters:

Definitive classifications

Farber lipogranulomatosis
Submitted as: OMIM:228000
AR
07/22/2015
Evaluated
09/11/2023
Submitted
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Submitted as: OMIM:159950
AR
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

Farber lipogranulomatosis
Submitted as: OMIM:228000
AR
02/18/2020
Evaluated
03/31/2021
Submitted
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Submitted as: OMIM:159950
AR
01/04/2021
Evaluated
03/31/2021
Submitted
Farber lipogranulomatosis
Submitted as: OMIM:228000
AR
10/05/2020
Evaluated
11/30/2023
Submitted
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Submitted as: OMIM:159950
AR
05/19/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

Farber lipogranulomatosis
Submitted as: Orphanet:333
AR
09/14/2021
Evaluated
09/14/2021
Submitted
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Submitted as: Orphanet:2590
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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