rs121918467, PTPN11

N. diseases: 23
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperextensible skin
CUI: C0241074
Disease: Hyperextensible skin
0.700 CausalMutation CLINVAR
Deep plantar creases
CUI: C1857953
Disease: Deep plantar creases
0.700 CausalMutation CLINVAR
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
0.700 CausalMutation CLINVAR
High, narrow palate
CUI: C1837404
Disease: High, narrow palate
0.700 CausalMutation CLINVAR
Underdeveloped supraorbital ridges
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
0.700 CausalMutation CLINVAR
Papule
CUI: C0332563
Disease: Papule
0.700 CausalMutation CLINVAR
Neck webbing
CUI: C0221217
Disease: Neck webbing
0.700 CausalMutation CLINVAR
High forehead
CUI: C0239676
Disease: High forehead
0.700 CausalMutation CLINVAR
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
0.700 CausalMutation CLINVAR
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
0.700 CausalMutation CLINVAR
Malocclusion
CUI: C0024636
Disease: Malocclusion
0.700 CausalMutation CLINVAR
Sparse eyelashes
CUI: C1843300
Disease: Sparse eyelashes
0.700 CausalMutation CLINVAR
Feeding difficulties in infancy
CUI: C2674608
Disease: Feeding difficulties in infancy
0.700 CausalMutation CLINVAR
Cutis marmorata
CUI: C0263401
Disease: Cutis marmorata
0.700 CausalMutation CLINVAR
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
0.700 CausalMutation CLINVAR
Motor delay
CUI: C1854301
Disease: Motor delay
0.700 CausalMutation CLINVAR
Broad philtrum
CUI: C1854111
Disease: Broad philtrum
0.700 CausalMutation CLINVAR
Deep palmar crease
CUI: C1857539
Disease: Deep palmar crease
0.700 CausalMutation CLINVAR
Coarse hair
CUI: C0277959
Disease: Coarse hair
0.700 CausalMutation CLINVAR
Triangular face
CUI: C1835884
Disease: Triangular face
0.700 CausalMutation CLINVAR
Sparse and thin eyebrow
CUI: C4282407
Disease: Sparse and thin eyebrow
0.700 CausalMutation CLINVAR
Posteriorly rotated ear
CUI: C0431478
Disease: Posteriorly rotated ear
0.700 CausalMutation CLINVAR
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 GeneticVariation UNIPROT Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. 28074573 2017
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338 2014
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.800 GeneticVariation UNIPROT A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. 24891296 2014