DisGeNET - a database of gene-disease associations

rs121913412, CTNNB1

N. diseases: 19

Disease: Neuromuscular hamartoma ×

Source: ALL

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Neuromuscular hamartoma

CUI:	C0346056
Disease:	Neuromuscular hamartoma

0.010

GeneticVariation

BEFREE

Four (of 5) NMCs had CTNNB1 mutations: 3 c.134 C>T (p.S45F) and 1 c.121 A>G (p.T41A).

2016