DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Pendred's syndrome ×

Gene: NKX2-1 ×

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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

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	7080
Gene Symbol:	NKX2-1

NKX2-1

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.010

AlteredExpression

BEFREE

Expression level of TTF-1 was weakly correlated only with the expression levels of PDS and DUOX2.

2006