rs1561898352, CUL7;KLC4

N. diseases: 8
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019