Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10892
Gene Symbol: MALT1
MALT1
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
0.350 Biomarker GENOMICS_ENGLAND Our nonconsanguineous patient with early onset profound combined immunodeficiency and immune dysregulation due to compound heterozygous MALT1 mutations extends the clinical and immunologic phenotype reported in 2 prior families. 25627829

2015