Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147

2011

Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. 20142534

2010

Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C0349588
Disease: Short stature
Short stature
0.100 GeneticVariation CLINVAR Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605

2009

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. 18372317

2008

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: 3845
Gene Symbol: KRAS
KRAS
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Vitamin K induces osteoblast differentiation through pregnane X receptor-mediated transcriptional control of the Msx2 gene. 17875939

2007

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483

2007

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: 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: 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: 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: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001

Entrez Id: 5476
Gene Symbol: CTSA
CTSA
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848

2000

Entrez Id: 5476
Gene Symbol: CTSA
CTSA
CUI: C0349588
Disease: Short stature
Short stature
0.100 CausalMutation CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752

1996

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