Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024312
Disease: Lymphopenia
Lymphopenia
0.120 Biomarker disease BEFREE Our experience suggests that a diagnosis of congenital neutropenia due to G6PC3 may not be as straightforward in such patients with combined lymphopenia and thrombocytopenia. 26479985 2015
CUI: C0024312
Disease: Lymphopenia
Lymphopenia
0.120 Biomarker disease BEFREE Here we investigate the findings of T cell lymphopenia and inflammatory bowel disease in a child with G6PC3 deficiency due to compound heterozygous mutations in intron 3 (c.IVS3-1 G>A) and exon 6 (c.G778G/C; p.Gly260/Arg). 23180359 2013
CUI: C0024312
Disease: Lymphopenia
Lymphopenia
0.120 Biomarker disease HPO