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:	22808
Gene Symbol:	MRAS

MRAS

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	10664
Gene Symbol:	CTCF

CTCF

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	23732
Gene Symbol:	FRRS1L

FRRS1L

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	116228
Gene Symbol:	COX20

COX20

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	5824
Gene Symbol:	PEX19

PEX19

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	9791
Gene Symbol:	PTDSS1

PTDSS1

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	8120
Gene Symbol:	AP3B2

AP3B2

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	92335
Gene Symbol:	STRADA

STRADA

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	23384
Gene Symbol:	SPECC1L

SPECC1L

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	8621
Gene Symbol:	CDK13

CDK13

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	6134
Gene Symbol:	RPL10

RPL10

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	388962
Gene Symbol:	BOLA3

BOLA3

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	4700
Gene Symbol:	NDUFA6

NDUFA6

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	1798
Gene Symbol:	DPAGT1

DPAGT1

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	5058
Gene Symbol:	PAK1

PAK1

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	10128
Gene Symbol:	LRPPRC

LRPPRC

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	23114
Gene Symbol:	NFASC

NFASC

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	9326
Gene Symbol:	ZNHIT3

ZNHIT3

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	4724
Gene Symbol:	NDUFS4

NDUFS4

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	200894
Gene Symbol:	ARL13B

ARL13B

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	275
Gene Symbol:	AMT

AMT

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	1107
Gene Symbol:	CHD3

CHD3

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	65062
Gene Symbol:	TMEM237

TMEM237

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	2911
Gene Symbol:	GRM1

GRM1

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO

Entrez Id:	10559
Gene Symbol:	SLC35A1

SLC35A1

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO