DisGeNET - a database of gene-disease associations

Source: HPO

Disease: Muscle 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:	144568
Gene Symbol:	A2ML1

A2ML1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

Biomarker

HPO

Entrez Id:	8086
Gene Symbol:	AAAS

AAAS

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

Biomarker

HPO

Entrez Id:	10157
Gene Symbol:	AASS

AASS

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

Biomarker

HPO

Entrez Id:	22
Gene Symbol:	ABCB7

ABCB7

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

Biomarker

HPO

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

Biomarker

HPO

Entrez Id:	27034
Gene Symbol:	ACAD8

ACAD8

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

Biomarker

HPO

Entrez Id:	34
Gene Symbol:	ACADM

ACADM

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

Biomarker

HPO

Entrez Id:	35
Gene Symbol:	ACADS

ACADS

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

Biomarker

HPO

Entrez Id:	36
Gene Symbol:	ACADSB

ACADSB

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

Biomarker

HPO

Entrez Id:	37
Gene Symbol:	ACADVL

ACADVL

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

Biomarker

HPO

Entrez Id:	38
Gene Symbol:	ACAT1

ACAT1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

Biomarker

HPO

Entrez Id:	51
Gene Symbol:	ACOX1

ACOX1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

Biomarker

HPO

Entrez Id:	53
Gene Symbol:	ACP2

ACP2

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

Biomarker

HPO

Entrez Id:	2182
Gene Symbol:	ACSL4

ACSL4

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

Biomarker

HPO

Entrez Id:	58
Gene Symbol:	ACTA1

ACTA1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

Biomarker

HPO

Entrez Id:	60
Gene Symbol:	ACTB

ACTB

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

Biomarker

HPO

Entrez Id:	95
Gene Symbol:	ACY1

ACY1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

Biomarker

HPO

Entrez Id:	9509
Gene Symbol:	ADAMTS2

ADAMTS2

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

Biomarker

HPO

Entrez Id:	112
Gene Symbol:	ADCY6

ADCY6

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

Biomarker

HPO

Entrez Id:	84059
Gene Symbol:	ADGRV1

ADGRV1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

Biomarker

HPO

Entrez Id:	175
Gene Symbol:	AGA

AGA

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

Biomarker

HPO

Entrez Id:	55750
Gene Symbol:	AGK

AGK

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

Biomarker

HPO

Entrez Id:	54806
Gene Symbol:	AHI1

AHI1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

Biomarker

HPO

Entrez Id:	197
Gene Symbol:	AHSG

AHSG

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

Biomarker

HPO

Entrez Id:	23746
Gene Symbol:	AIPL1

AIPL1

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

0.100

Biomarker

HPO