DisGeNET - a database of gene-disease associations

Source: HPO

Disease: Generalized hypotonia ×

Results per page

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:	80856
Gene Symbol:	LNPK

LNPK

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.400

Biomarker

HPO

Entrez Id:	197258
Gene Symbol:	FCSK

FCSK

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.400

Biomarker

HPO

Entrez Id:	339983
Gene Symbol:	NAT8L

NAT8L

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	7862
Gene Symbol:	BRPF1

BRPF1

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	87178
Gene Symbol:	PNPT1

PNPT1

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	9928
Gene Symbol:	KIF14

KIF14

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	54463
Gene Symbol:	RETREG1

RETREG1

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	6228
Gene Symbol:	RPS23

RPS23

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	57514
Gene Symbol:	ARHGAP31

ARHGAP31

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	10978
Gene Symbol:	CLP1

CLP1

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	22930
Gene Symbol:	RAB3GAP1

RAB3GAP1

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	6821
Gene Symbol:	SUOX

SUOX

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	1387
Gene Symbol:	CREBBP

CREBBP

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	112858
Gene Symbol:	TP53RK

TP53RK

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	60482
Gene Symbol:	SLC5A7

SLC5A7

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	1795
Gene Symbol:	DOCK3

DOCK3

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	57520
Gene Symbol:	HECW2

HECW2

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	158
Gene Symbol:	ADSL

ADSL

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	171023
Gene Symbol:	ASXL1

ASXL1

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	54187
Gene Symbol:	NANS

NANS

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	10765
Gene Symbol:	KDM5B

KDM5B

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	26128
Gene Symbol:	KIFBP

KIFBP

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	10290
Gene Symbol:	SPEG

SPEG

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	51322
Gene Symbol:	WAC

WAC

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO