UNC13D, unc-13 homolog D, 201294

N. diseases: 48; N. variants: 26
Disease: Juvenile arthritis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		0.030 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: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		0.030 GeneticVariation disease BEFREE Four SNPs across the PRF1 gene locus, 5 for GZMB, 7 for UNC13D, and 11 for Rab27a were investigated using MassArray genotyping in 133 UK Caucasian patients with systemic-onset JIA and 384 ethnically matched unrelated control subjects. 18311812 2008
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		0.030 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