rs1561875767, CUL7;KLC4

N. diseases: 14
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
Slender long bone
CUI: C1833144
Disease: Slender long bone
0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Increased vertebral height
CUI: C1864853
Disease: Increased vertebral height
0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Bulbous nose
CUI: C0240543
Disease: Bulbous nose
0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Thin rib
CUI: C0426818
Disease: Thin rib
0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Pointed chin
CUI: C1844505
Disease: Pointed chin
0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Delayed bone age
CUI: C0541764
Disease: Delayed bone age
0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
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
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
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
Short stature
CUI: C0349588
Disease: Short stature
0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Small midface
CUI: C2673410
Disease: Small midface
0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019