rs1561898352, CUL7;KLC4

N. diseases: 8
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
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Lordosis
CUI: C0024003
Disease: Lordosis
0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Short thorax
CUI: C0426789
Disease: Short thorax
0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Short neck
CUI: C0521525
Disease: Short neck
0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Long narrow head
CUI: C0221358
Disease: Long narrow head
0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Triangular face
CUI: C1835884
Disease: Triangular face
0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Joint hyperflexibility
CUI: C3553764
Disease: Joint hyperflexibility
0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019