Disease: Leopard Syndrome 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507549
rs397507549
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551484
Disease:
Leopard Syndrome 1 		0.700 GeneticVariation UNIPROT Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling. 26742426 2016
dbSNP: rs397507549
rs397507549
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551484
Disease:
Leopard Syndrome 1 		0.700 GeneticVariation UNIPROT A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. 24891296 2014
dbSNP: rs397507549
rs397507549
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551484
Disease:
Leopard Syndrome 1 		0.700 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
dbSNP: rs397507549
rs397507549
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551484
Disease:
Leopard Syndrome 1 		0.700 GeneticVariation UNIPROT Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). 16679933 2006
dbSNP: rs397507549
rs397507549
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551484
Disease:
Leopard Syndrome 1 		0.700 GeneticVariation UNIPROT "PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""." 16733669 2006
dbSNP: rs397507549
rs397507549
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551484
Disease:
Leopard Syndrome 1 		0.700 GeneticVariation UNIPROT Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. 15690106 2005
dbSNP: rs397507549
rs397507549
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551484
Disease:
Leopard Syndrome 1 		0.700 GeneticVariation UNIPROT Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. 15121796 2004
dbSNP: rs397507549
rs397507549
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551484
Disease:
Leopard Syndrome 1 		0.700 GeneticVariation UNIPROT Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. 15389709 2004
dbSNP: rs397507549
rs397507549
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551484
Disease:
Leopard Syndrome 1 		0.700 GeneticVariation UNIPROT PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. 15520399 2004
dbSNP: rs397507549
rs397507549
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551484
Disease:
Leopard Syndrome 1 		0.700 GeneticVariation UNIPROT A novel PTPN11 mutation in LEOPARD syndrome. 14961557 2003
dbSNP: rs397507549
rs397507549
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551484
Disease:
Leopard Syndrome 1 		0.700 GeneticVariation UNIPROT Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348 2002