UNC13D, unc-13 homolog D, 201294

N. diseases: 48; N. variants: 26
Disease: Exanthema ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015230
Disease: Exanthema
Exanthema 		0.010 GeneticVariation phenotype BEFREE The first patient bearing a homozygous truncation mutation in UNC13D (c.2650C>T.p.Gln884Ter) presented with central nervous system involvement and skin rash. 31651726 2019