Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1742
Gene Symbol: DLG4
DLG4
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature
0.300 Biomarker GENOMICS_ENGLAND Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017

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: 5728
Gene Symbol: PTEN
PTEN
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature
0.100 Biomarker HPO

Entrez Id: 875
Gene Symbol: CBS
CBS
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature
0.100 Biomarker HPO

Entrez Id: 529
Gene Symbol: ATP6V1E1
ATP6V1E1
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature
0.100 Biomarker HPO

Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature
0.100 Biomarker HPO

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

Entrez Id: 7469
Gene Symbol: NELFA
NELFA
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature
0.100 Biomarker HPO

Entrez Id: 3954
Gene Symbol: LETM1
LETM1
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature
0.100 Biomarker HPO

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

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature
0.100 Biomarker HPO

Entrez Id: 84627
Gene Symbol: ZNF469
ZNF469
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature
0.100 Biomarker HPO

Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature
0.100 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature
0.100 Biomarker HPO

Entrez Id: 2201
Gene Symbol: FBN2
FBN2
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature
0.100 Biomarker HPO

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: 9968
Gene Symbol: MED12
MED12
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature
0.100 Biomarker HPO

Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature
0.100 Biomarker HPO

Entrez Id: 55033
Gene Symbol: FKBP14
FKBP14
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature
0.100 Biomarker HPO

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: 3248
Gene Symbol: HPGD
HPGD
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature
0.100 Biomarker HPO

Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature
0.100 Biomarker HPO

Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature
0.100 Biomarker HPO