rs121918457, PTPN11

N. diseases: 24
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
0.800 CausalMutation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Abnormality of the sternum
CUI: C1860493
Disease: Abnormality of the sternum
0.700 CausalMutation CLINVAR
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
0.700 CausalMutation CLINVAR
Cardiovascular Abnormalities
CUI: C0243050
Disease: Cardiovascular Abnormalities
0.700 CausalMutation CLINVAR
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.700 CausalMutation CLINVAR
Multiple lentigines
CUI: C1328931
Disease: Multiple lentigines
0.700 CausalMutation CLINVAR
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR
Abnormality of the face
CUI: C4025871
Disease: Abnormality of the face
0.700 CausalMutation CLINVAR
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
0.700 CausalMutation CLINVAR
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
0.700 CausalMutation CLINVAR
Broad neck
CUI: C1853638
Disease: Broad neck
0.700 CausalMutation CLINVAR
Nevus
CUI: C0027960
Disease: Nevus
0.700 CausalMutation CLINVAR
Neck webbing
CUI: C0221217
Disease: Neck webbing
0.700 CausalMutation CLINVAR
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
0.700 CausalMutation CLINVAR
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
0.800 GeneticVariation UNIPROT "PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""." 16733669 2006
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 GeneticVariation BEFREE LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria. 21365175 2011
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR A new examination of the patient and his similarly affected father, who was initially referred as healthy, led us to suspect LEOPARD syndrome, The diagnosis was then confirmed by the occurrence in both patients of a heterozygous mutation c.1403 C > T, p.(Thr468Met), of PTPN11. 24767283 2014
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
0.800 GeneticVariation UNIPROT A novel PTPN11 mutation in LEOPARD syndrome. 14961557 2003
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.710 CausalMutation CLINVAR A novel PTPN11 mutation in LEOPARD syndrome. 14961557 2003
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard 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
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.710 CausalMutation CLINVAR A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1. 22585553 2012
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
0.800 GeneticVariation UNIPROT Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). 16679933 2006
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581 2018
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
0.800 GeneticVariation UNIPROT Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. 15121796 2004