DisGeNET - a database of gene-disease associations

KCNQ1OT1, KCNQ1 opposite strand/antisense transcript 1, 10984

N. diseases: 159; N. variants: 17

Disease: Congenital omphalocele ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0795690
Disease:	Congenital omphalocele

Congenital omphalocele

0.110

GeneticVariation

disease

BEFREE

Taken together, these findings suggest that KCNQ1OT1:TSS-DMR could be a susceptibility locus for the isolated omphalocele.

29047350

2017

CUI:	C0795690
Disease:	Congenital omphalocele

Congenital omphalocele

0.110

Biomarker

disease

HPO