All genes

14 entries on 1 page. Showing entries 1 - 14.
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AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ARSB arylsulfatase B 5 q14.1 1 61 28 2021-06-06 MPS VI
CTSA cathepsin A 20 q13.12 3 2 2 2020-12-26 GSL
GALNS galactosamine (N-acetyl)-6-sulfatase 16 q24.3 4 95 67 2021-06-06 MPS IVA
GLB1 galactosidase beta 1 3 p22.3 1 1 1 2020-12-30 MPS IVB
GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 12 q23.2 1 1 1 2021-05-10 ML III
GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma 16 p13.3 1 1 1 2021-05-10 ML III Gamma
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase 8 p11.21-p11.1 1 5 5 2021-06-21 MPS IIIC
HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 10 q24.2 1 1 1 2021-01-02 HP3
IDS iduronate 2-sulfatase X q28 1 18 18 2021-06-26 MPS II
IDUA alpha-L-iduronidase 4 p16.3 1 66 46 2021-06-26 MPS I
L2HGDH L-2-hydroxyglutarate dehydrogenase 14 q21.3 1 1 1 2021-01-02 L2HGA
NAGLU N-acetyl-alpha-glucosaminidase 17 q21.2 1 18 15 2021-05-10 MPS IIIB
NEU1 neuraminidase 1 6 p21.33 1 1 1 2021-05-10 Sialidosis
SGSH N-sulfoglucosamine sulfohydrolase 17 q25.3 1 12 12 2021-05-10 MPS IIIA
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