Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25886
Gene Symbol: POC1A
POC1A
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.440 GeneticVariation CLINVAR

Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.440 CausalMutation CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050

2014

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.150 CausalMutation CLINVAR

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.110 CausalMutation CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050

2014

Entrez Id: 9419
Gene Symbol: CRIPT
CRIPT
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.110 CausalMutation CLINVAR

Entrez Id: 1763
Gene Symbol: DNA2
DNA2
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.100 GeneticVariation CLINVAR

Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.100 GeneticVariation CLINVAR

Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.100 CausalMutation CLINVAR Extreme growth failure is a common presentation of ligase IV deficiency. 24123394

2014

Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.100 CausalMutation CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494

2001

Entrez Id: 545
Gene Symbol: ATR
ATR
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.100 GeneticVariation CLINVAR

Entrez Id: 10293
Gene Symbol: TRAIP
TRAIP
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.610 Biomarker HPO

Entrez Id: 4998
Gene Symbol: ORC1
ORC1
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.450 Biomarker HPO

Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.440 Biomarker HPO

Entrez Id: 51574
Gene Symbol: LARP7
LARP7
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.420 Biomarker HPO

Entrez Id: 10785
Gene Symbol: WDR4
WDR4
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.420 Biomarker HPO

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.410 Biomarker HPO

Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.410 Biomarker HPO

Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.410 Biomarker HPO

Entrez Id: 7038
Gene Symbol: TG
TG
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.410 Biomarker HPO

Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.410 Biomarker HPO

Entrez Id: 10733
Gene Symbol: PLK4
PLK4
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.410 Biomarker HPO

Entrez Id: 29980
Gene Symbol: DONSON
DONSON
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.410 Biomarker HPO

Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.400 Biomarker HPO

Entrez Id: 3479
Gene Symbol: IGF1
IGF1
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.400 Biomarker HPO

Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.400 Biomarker HPO