TMED7-TICAM2, TMED7-TICAM2 readthrough, 100302736

N. diseases: 329; N. variants: 3
Disease: Hypotrichosis simplex ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex 		0.010 GeneticVariation disease BEFREE Consistent with literature, the p27 variant SNP had an allele frequency of 40%, but was not associated with reduced HTS formation or lower itch scores in any genetic model. 23966119 2014