DisGeNET - a database of gene-disease associations

Generalized hypotonia, C1858120

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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

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	57688
Gene Symbol:	ZSWIM6

ZSWIM6

0.100

Biomarker

phenotype

HPO

Entrez Id:	9326
Gene Symbol:	ZNHIT3

ZNHIT3

0.100

Biomarker

phenotype

HPO

Entrez Id:	7707
Gene Symbol:	ZNF148

ZNF148

0.100

Biomarker

phenotype

HPO

Entrez Id:	7545
Gene Symbol:	ZIC1

ZIC1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9839
Gene Symbol:	ZEB2

ZEB2

0.100

Biomarker

phenotype

HPO

Entrez Id:	55906
Gene Symbol:	ZC4H2

ZC4H2

0.100

Biomarker

phenotype

HPO

Entrez Id:	79882
Gene Symbol:	ZC3H14

ZC3H14

0.100

Biomarker

phenotype

HPO

Entrez Id:	26137
Gene Symbol:	ZBTB20

ZBTB20

0.100

Biomarker

phenotype

HPO

Entrez Id:	10472
Gene Symbol:	ZBTB18

ZBTB18

0.100

Biomarker

phenotype

HPO

Entrez Id:	7532
Gene Symbol:	YWHAG

YWHAG

0.100

Biomarker

phenotype

HPO

Entrez Id:	7507
Gene Symbol:	XPA

XPA

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	7507
Gene Symbol:	XPA

XPA

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	51741
Gene Symbol:	WWOX

WWOX

0.100

Biomarker

phenotype

HPO

Entrez Id:	65125
Gene Symbol:	WNK1

WNK1

0.100

Biomarker

phenotype

HPO

Entrez Id:	7467
Gene Symbol:	WHCR

WHCR

0.100

Biomarker

phenotype

HPO

Entrez Id:	80232
Gene Symbol:	WDR26

WDR26

0.100

Biomarker

phenotype

HPO

Entrez Id:	9897
Gene Symbol:	WASHC5

WASHC5

0.100

Biomarker

phenotype

HPO

Entrez Id:	23325
Gene Symbol:	WASHC4

WASHC4

0.100

Biomarker

phenotype

HPO

Entrez Id:	10352
Gene Symbol:	WARS2

WARS2

0.100

Biomarker

phenotype

HPO

Entrez Id:	51322
Gene Symbol:	WAC

WAC

0.100

Biomarker

phenotype

HPO

Entrez Id:	7443
Gene Symbol:	VRK1

VRK1

0.100

Biomarker

phenotype

HPO

Entrez Id:	26276
Gene Symbol:	VPS33B

VPS33B

0.100

Biomarker

phenotype

HPO

Entrez Id:	157680
Gene Symbol:	VPS13B

VPS13B

0.100

Biomarker

phenotype

HPO

Entrez Id:	157680
Gene Symbol:	VPS13B

VPS13B

0.100

CausalMutation

phenotype

CLINVAR

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

2016

Entrez Id:	55823
Gene Symbol:	VPS11

VPS11

0.100

CausalMutation

phenotype

CLINVAR