Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation CLINVAR

Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation CLINVAR

Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0349588
Disease: Short stature
Short stature 		0.100 GeneticVariation CLINVAR

Entrez Id: 2972
Gene Symbol: BRF1
BRF1
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation CLINVAR

Entrez Id: 23358
Gene Symbol: USP24
USP24
CUI: C0349588
Disease: Short stature
Short stature 		0.100 GeneticVariation CLINVAR

Entrez Id: 23499
Gene Symbol: MACF1
MACF1
CUI: C0349588
Disease: Short stature
Short stature 		0.100 GeneticVariation CLINVAR

Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation CLINVAR

Entrez Id: 79876
Gene Symbol: UBA5
UBA5
CUI: C0349588
Disease: Short stature
Short stature 		0.100 GeneticVariation CLINVAR

Entrez Id: 361
Gene Symbol: AQP4
AQP4
CUI: C0349588
Disease: Short stature
Short stature 		0.100 GeneticVariation CLINVAR

Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
CUI: C0349588
Disease: Short stature
Short stature 		0.100 GeneticVariation CLINVAR

Entrez Id: 473
Gene Symbol: RERE
RERE
CUI: C0349588
Disease: Short stature
Short stature 		0.100 GeneticVariation CLINVAR

Entrez Id: 55558
Gene Symbol: PLXNA3
PLXNA3
CUI: C0349588
Disease: Short stature
Short stature 		0.100 GeneticVariation CLINVAR

Entrez Id: 84033
Gene Symbol: OBSCN
OBSCN
CUI: C0349588
Disease: Short stature
Short stature 		0.100 GeneticVariation CLINVAR

Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation CLINVAR

Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation CLINVAR

Entrez Id: 9557
Gene Symbol: CHD1L
CHD1L
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation CLINVAR

Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation CLINVAR

Entrez Id: 11180
Gene Symbol: WDR6
WDR6
CUI: C0349588
Disease: Short stature
Short stature 		0.100 GeneticVariation CLINVAR

Entrez Id: 8632
Gene Symbol: DNAH17
DNAH17
CUI: C0349588
Disease: Short stature
Short stature 		0.100 GeneticVariation CLINVAR

Entrez Id: 2312
Gene Symbol: FLG
FLG
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation CLINVAR

Entrez Id: 23428
Gene Symbol: SLC7A8
SLC7A8
CUI: C0349588
Disease: Short stature
Short stature 		0.100 GeneticVariation CLINVAR

Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0349588
Disease: Short stature
Short stature 		0.100 GeneticVariation CLINVAR

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation CLINVAR

Entrez Id: 5834
Gene Symbol: PYGB
PYGB
CUI: C0349588
Disease: Short stature
Short stature 		0.100 GeneticVariation CLINVAR

Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation CLINVAR