rs121918460, PTPN11

N. diseases: 27
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 CausalMutation CLINVAR
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
0.700 CausalMutation CLINVAR
Small scrotum
CUI: C0455792
Disease: Small scrotum
0.700 CausalMutation CLINVAR
Neck webbing
CUI: C0221217
Disease: Neck webbing
0.700 CausalMutation CLINVAR
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
0.700 CausalMutation CLINVAR
Abnormality of the thorax
CUI: C4021797
Disease: Abnormality of the thorax
0.700 CausalMutation CLINVAR
Abnormality of the face
CUI: C4025871
Disease: Abnormality of the face
0.700 CausalMutation CLINVAR
Increased tendency to bruise
CUI: C0423798
Disease: Increased tendency to bruise
0.700 CausalMutation CLINVAR
Pleural effusion disorder
CUI: C0032227
Disease: Pleural effusion disorder
0.700 CausalMutation CLINVAR
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
0.700 CausalMutation CLINVAR
Choroid plexus cyst
CUI: C0338597
Disease: Choroid plexus cyst
0.700 CausalMutation CLINVAR
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
0.700 CausalMutation CLINVAR
Hepatomegaly
CUI: C0019209
Disease: Hepatomegaly
0.700 CausalMutation CLINVAR
Pterygium
CUI: C0033999
Disease: Pterygium
0.700 CausalMutation CLINVAR
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
0.700 CausalMutation CLINVAR
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR
Broad neck
CUI: C1853638
Disease: Broad neck
0.700 CausalMutation CLINVAR
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
0.700 CausalMutation CLINVAR
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 GeneticVariation UNIPROT Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 GeneticVariation UNIPROT PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.710 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
Heart Diseases
CUI: C0018799
Disease: Heart Diseases
0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 GeneticVariation UNIPROT PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469 2002
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 GeneticVariation UNIPROT PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. 12325025 2002