UNC13D, unc-13 homolog D, 201294

N. diseases: 48; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.050 Biomarker disease BEFREE An aberrant immunophenotype, including CD5 and/or CD7 downregulation on T cells, was observed in 55.6% (15/27) of the EBV-positive HLH patients and 100% of the familial HLH (3/3). 31037861 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.050 Biomarker disease BEFREE We now expanded our preliminary study by increasing the cohort of ALCL patients to a total of 84 consecutive cases, in whom we extended mutation analysis to the genes SH2D1A, PRF1 e UNC13D, all related to familial HLH. 24309606 2014
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.050 GeneticVariation disease BEFREE The biallelic sequence variants in MUNC13-4 reported in familial HLH were present in 2 of the 18 patients with JIA/macrophage activation syndrome. 18759271 2008
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.050 GeneticVariation disease BEFREE Primary (familial) HLH is known to occur in children with mutations in perforin, Munc13-4, or syntaxin 11. 18421721 2008
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.050 Biomarker disease BEFREE Two autosomal recessive gene defects underlie 40-50% of primary (familial) cases worldwide: perforin, the major immune cytotoxic protein, and MUNC 13-4, a protein involved in exocytosis of perforin-bearing cytotoxic granules during apoptosis. 17088644 2006