STK11, serine/threonine kinase 11, 6794

N. diseases: 372; N. variants: 145
Disease: Peutz-Jeghers Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1568710381
rs1568710381
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		A 0.700 CausalMutation CLINVAR A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report. 28185117 2017
dbSNP: rs1568710381
rs1568710381
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		A 0.700 CausalMutation CLINVAR STK11 domain XI mutations: candidate genetic drivers leading to the development of dysplastic polyps in Peutz-Jeghers syndrome. 24652667 2014
dbSNP: rs1568710381
rs1568710381
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		A 0.700 CausalMutation CLINVAR [Mutation analysis of STK11 gene coding region for 20 Chinese patients with Peutz-Jeghers syndrome]. 22543132 2012
dbSNP: rs1568710381
rs1568710381
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		A 0.700 CausalMutation CLINVAR High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. 16287113 2005
dbSNP: rs1568710381
rs1568710381
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		A 0.700 CausalMutation CLINVAR Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families. 10408777 1999