Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 89953
Gene Symbol: KLC4
KLC4
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow
0.100 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019

Entrez Id: 9820
Gene Symbol: CUL7
CUL7
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow
0.100 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019

Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow
0.100 Biomarker HPO

Entrez Id: 2690
Gene Symbol: GHR
GHR
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow
0.100 Biomarker HPO

Entrez Id: 9820
Gene Symbol: CUL7
CUL7
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow
0.100 Biomarker HPO

Entrez Id: 2733
Gene Symbol: GLE1
GLE1
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow
0.100 Biomarker HPO

Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow
0.100 Biomarker HPO

Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow
0.100 Biomarker HPO

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow
0.100 Biomarker HPO

Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow
0.100 Biomarker HPO

Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow
0.100 Biomarker HPO

Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow
0.100 Biomarker HPO

Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow
0.100 Biomarker HPO