Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
CUI: C0349588
Disease: Short stature
Short stature
0.400 CausalMutation CLINVAR

Entrez Id: 9862
Gene Symbol: MED24
MED24
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR

Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR

Entrez Id: 8532
Gene Symbol: CPZ
CPZ
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR

Entrez Id: 57504
Gene Symbol: MTA3
MTA3
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR

Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR

Entrez Id: 220001
Gene Symbol: VWCE
VWCE
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR

Entrez Id: 8467
Gene Symbol: SMARCA5
SMARCA5
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR

Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR

Entrez Id: 6249
Gene Symbol: CLIP1
CLIP1
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR

Entrez Id: 4882
Gene Symbol: NPR2
NPR2
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR

Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR

Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR

Entrez Id: 23476
Gene Symbol: BRD4
BRD4
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR

Entrez Id: 3899
Gene Symbol: AFF3
AFF3
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR

Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR

Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR

Entrez Id: 64319
Gene Symbol: FBRS
FBRS
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR

Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR

Entrez Id: 673
Gene Symbol: BRAF
BRAF
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 CausalMutation CLINVAR