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: rs786201090
rs786201090
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		T 0.700 CausalMutation CLINVAR Truncating mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical interventions and cancers. 19727776 2010
dbSNP: rs786201090
rs786201090
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		T 0.700 CausalMutation CLINVAR STK11 genotyping and cancer risk in Peutz-Jeghers syndrome. 15863673 2005
dbSNP: rs786201090
rs786201090
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		T 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in Peutz-Jeghers syndrome. 15121768 2004
dbSNP: rs786201090
rs786201090
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		T 0.700 CausalMutation CLINVAR Recent work has led to the identification of four mutants (R304W, I177N, K175-D176del, L263fsX286) and two novel aberrant LKB1/STK11 cDNA isoforms (r291-464del, r485-1283del) in a group of PJS Italian patients. 12552571 2003
dbSNP: rs786201090
rs786201090
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		T 0.700 GeneticVariation CLINVAR Recent work has led to the identification of four mutants (R304W, I177N, K175-D176del, L263fsX286) and two novel aberrant LKB1/STK11 cDNA isoforms (r291-464del, r485-1283del) in a group of PJS Italian patients. 12552571 2003
dbSNP: rs786201090
rs786201090
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		T 0.700 CausalMutation CLINVAR Loss of cytoplasmic retention ability of mutant LKB1 found in Peutz-Jeghers syndrome patients. 10441497 1999