Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR

Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR