DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Neoplastic Syndromes, Hereditary ×

Variant: rs121913321 ×

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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:

rs121913321

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Mutations in the human LKB1/STK11 gene.

16110486

2005

dbSNP:

rs121913321

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

STK11 genotyping and cancer risk in Peutz-Jeghers syndrome.

15863673

2005

dbSNP:

rs121913321

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