STK11, serine/threonine kinase 11, 6794

N. diseases: 372; N. variants: 145
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131690951
rs1131690951
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome. 17404884 2007
dbSNP: rs1131690951
rs1131690951
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. 16287113 2005
dbSNP: rs1131690951
rs1131690951
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites. 15608654 2005
dbSNP: rs1131690951
rs1131690951
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients. 12112668 2002