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 Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348 2002
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348 2002
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.710 CausalMutation CLINVAR Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348 2002
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
0.700 CausalMutation CLINVAR Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348 2002
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 Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. 15121796 2004
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.710 CausalMutation CLINVAR Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. 15121796 2004
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
0.800 GeneticVariation UNIPROT Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. 15389709 2004
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
0.800 GeneticVariation UNIPROT PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. 15520399 2004