Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.100 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.100 CausalMutation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.100 CausalMutation CLINVAR

Entrez Id: 2259
Gene Symbol: FGF14
FGF14
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.100 GeneticVariation CLINVAR

Entrez Id: 1644
Gene Symbol: DDC
DDC
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.100 GeneticVariation CLINVAR

Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.100 CausalMutation CLINVAR

Entrez Id: 6497
Gene Symbol: SKI
SKI
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.100 GeneticVariation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.100 GeneticVariation CLINVAR

Entrez Id: 63979
Gene Symbol: FIGNL1
FIGNL1
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.100 GeneticVariation CLINVAR