DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: ZIMMERMANN-LABAND SYNDROME 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:	3756
Gene Symbol:	KCNH1

KCNH1

CUI:	C4551773
Disease:	ZIMMERMANN-LABAND SYNDROME 1

ZIMMERMANN-LABAND SYNDROME 1

0.400

GeneticVariation

UNIPROT

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

2015