Advanced search
Combine gene, variant, phenotype, region and year filters
Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
Knowledge-base search
About your search
PHKB and glycogen storage disease are reported together in 1 article.
Gene
PHKB
- HGNC
- HGNC:8927
1articles
1mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Glycogen storage disease
- HPO
- HP:0003542
18articles
18mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.
PMID 24326380 | DOI 10.1007/s00431-013-2223-0 · European journal of pediatrics · 2014 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PHKB | “Glycogen storage disease type IX (GSD IX) is a common form of glycogenosis due to mutations in PHKA1, PHKA2, or PHKB and PHKG2 genes resulting in the deficiency of phosphorylase kinase.” | 0.98 | hgnc_dict_v1 |
| phenotype | glycogen storage disease | “Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | PHKG2 | “Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.” | 0.98 | hgnc_dict_v1 |
| gene | PHKA1 | “Glycogen storage disease type IX (GSD IX) is a common form of glycogenosis due to mutations in PHKA1, PHKA2, or PHKB and PHKG2 genes resulting in the deficiency of phosphorylase kinase.” | 0.98 | hgnc_dict_v1 |