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SI

Analyte Export to PDF
Name:
sucrase-isomaltase
Symbol:
SI
Version of Orphanet:
2022-05-01 04:55:23
Synonyms:
Alpha-methylglucosidase
Oligo-1,6-glucosidase
Oligosaccharide alpha-1,6-glucosidase
alpha-glucosidase
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
Reactome
SwissProt
Created:
13 May 2019 - 01:01
Changed:
01 May 2022 - 06:55
  • Metabolic diseases with hepatic disorders (20 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ATP7B 100.00 1 Part of Custom Gastro-pneumo panel
    CPT1A 100.00 1 Part of Custom Gastro-pneumo panel
    CYP27A1 100.00 1 Part of Custom Gastro-pneumo panel
    DGUOK 100.00 1 Part of Custom Gastro-pneumo panel
    DHCR7 100.00 1 Part of Custom Gastro-pneumo panel
    EHHADH 100.00 1 Part of Custom Gastro-pneumo panel
    GBE1 100.00 1 Part of Custom Gastro-pneumo panel
    GNAS 0.00 1 Part of Custom Gastro-pneumo panel / only Exons 8 and 9
    GUSB 100.00 1 Part of Custom Gastro-pneumo panel
    LIPA 100.00 1 Part of Custom Gastro-pneumo panel
    MPV17 100.00 1 Part of Custom Gastro-pneumo panel
    NEU1 100.00 1 Part of Custom Gastro-pneumo panel
    NPC1 100.00 1 Part of Custom Gastro-pneumo panel
    NPC2 100.00 1 Part of Custom Gastro-pneumo panel
    POLG 100.00 1 Part of Custom Gastro-pneumo panel
    SI 100.00 1 Part of Custom Gastro-pneumo panel
    SLC25A13 100.00 1 Part of Custom Gastro-pneumo panel
    SMPD1 100.00 1 Part of Custom Gastro-pneumo panel
    TALDO1 100.00 1 Part of Custom Gastro-pneumo panel
    TRMU 100.00 1 Part of Custom Gastro-pneumo panel