UNC13D, unc-13 homolog D, 201294

N. diseases: 48; N. variants: 26
Disease: Macrophage Activation Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1096155
Disease: Macrophage Activation Syndrome
Macrophage Activation Syndrome 		0.040 GeneticVariation disease BEFREE We evaluated a patient with systemic JIA and recurrent MAS in whom a novel functional intronic variant in UNC13D, c.117+143A>G, was observed. 29409136 2018
CUI: C1096155
Disease: Macrophage Activation Syndrome
Macrophage Activation Syndrome 		0.040 GeneticVariation disease BEFREE Heterozygous protein-altering rare variants in the known genes (LYST,MUNC13-4, and STXBP2) were found in 5 of 14 patients with systemic JIA and MAS (35.7%). 25047945 2014
CUI: C1096155
Disease: Macrophage Activation Syndrome
Macrophage Activation Syndrome 		0.040 GeneticVariation disease BEFREE Further analysis of the MUNC13-4 sequences revealed an identical combination of 12 single-nucleotide polymorphisms (SNPs) in 9 of the remaining 16 patients with systemic JIA/macrophage activation syndrome (56%). 18759271 2008
CUI: C1096155
Disease: Macrophage Activation Syndrome
Macrophage Activation Syndrome 		0.040 GeneticVariation disease BEFREE We report the case of an 8-year-old girl with systemic JIA without MAS who was found to have compound heterozygous mutations of UNC13D and reduced NK cell cytotoxic function. 18240215 2008