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: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039

2005

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: 5894
Gene Symbol: RAF1
RAF1
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482

2007

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation 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: 3899
Gene Symbol: AFF3
AFF3
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR

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

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006

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

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Germline KRAS mutations cause Noonan syndrome. 16474405

2006

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

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Genotype-phenotype correlations in Noonan syndrome. 15001945

2004

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015

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