Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 GeneticVariation CLINVAR A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. 24121961

2014
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 CausalMutation CLINVAR Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. 10382909

1999
Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 CausalMutation CLINVAR SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. 8595433

1995
Entrez Id: 6913
Gene Symbol: TBX15
TBX15
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 Biomarker HPO

Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 GeneticVariation CLINVAR

Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 Biomarker HPO

Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 Biomarker HPO

Entrez Id: 163175
Gene Symbol: LGI4
LGI4
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 Biomarker HPO

Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 Biomarker HPO

Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 Biomarker HPO

Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 Biomarker HPO

Entrez Id: 9200
Gene Symbol: HACD1
HACD1
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 Biomarker HPO

Entrez Id: 9711
Gene Symbol: RUBCN
RUBCN
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 CausalMutation CLINVAR

Entrez Id: 339855
Gene Symbol: KY
KY
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 Biomarker HPO

Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 Biomarker HPO

Entrez Id: 23387
Gene Symbol: SIK3
SIK3
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 Biomarker HPO

Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 Biomarker HPO

Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 Biomarker HPO

Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 Biomarker HPO

Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 Biomarker HPO

Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 Biomarker HPO

Entrez Id: 3679
Gene Symbol: ITGA7
ITGA7
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 Biomarker HPO

Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 Biomarker HPO

Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 Biomarker HPO

Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 Biomarker HPO