DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Neoplastic Syndromes, Hereditary ×

Variant: rs1131690951 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1131690951

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome.

17404884

2007

dbSNP:

rs1131690951

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.

16287113

2005

dbSNP:

rs1131690951

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

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

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.

12112668

2002