SVSaudiVarKBSaudi Variant Knowledge Base
Research release · QC validated
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Gene profile

ALG9

HGNC:15672 · SaudiVarKB evidence summary derived from retained literature mentions.

2Gene mentions
2Publications
4Linked variants
3Associated phenotypes

Associated phenotypes

Co-mentioned in ALG9 publications
PhenotypeIdentifierArticlesMentions
epilepsyHP:000125022
developmental delayHP:000126311
skeletal dysplasia—11

Linked variants

Variants normalized to ALG9
VariantHGVS / rsIDArticlesMentions
c.902G>Ac.902G>A11
p.R301Hp.R301H11
c.1075G>Ac.1075G>A11
p.E359Kp.E359K11

Population context

Reported in the same publications
Country / regionGroupCohortArticles
Not specified—181

Supporting publications

2 records
  1. 2016Further Delineation of the ALG9-CDG Phenotype.JIMD reportsPubMed ↗
  2. 2012Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping.JIMD reportsPubMed ↗
Data & methodsCitation & contactSystem status
Developed by Dr Babajan Banaganapalli. For full data access, contact bioinfo.bb@gmail.com.
SaudiVarKB is a research resource and is not intended for clinical diagnosis or treatment decisions.