DisGeNET - a database of gene-disease associations

Severe muscular hypotonia, C1839630

Source: ALL

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	6606
Gene Symbol:	SMN1

SMN1

0.100

CausalMutation

phenotype

CLINVAR

A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.

2013

Entrez Id:	6607
Gene Symbol:	SMN2

SMN2

0.100

CausalMutation

phenotype

CLINVAR

A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.

2013

Entrez Id:	4534
Gene Symbol:	MTM1

MTM1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9409
Gene Symbol:	PEX16

PEX16

0.100

Biomarker

phenotype

HPO

Entrez Id:	5193
Gene Symbol:	PEX12

PEX12

0.100

Biomarker

phenotype

HPO

Entrez Id:	18
Gene Symbol:	ABAT

ABAT

0.100

Biomarker

phenotype

HPO

Entrez Id:	56947
Gene Symbol:	MFF

MFF

0.100

Biomarker

phenotype

HPO

Entrez Id:	4359
Gene Symbol:	MPZ

MPZ

0.100

Biomarker

phenotype

HPO

Entrez Id:	4726
Gene Symbol:	NDUFS6

NDUFS6

0.100

Biomarker

phenotype

HPO

Entrez Id:	29954
Gene Symbol:	POMT2

POMT2

0.100

Biomarker

phenotype

HPO

Entrez Id:	4632
Gene Symbol:	MYL1

MYL1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9325
Gene Symbol:	TRIP4

TRIP4

0.100

Biomarker

phenotype

HPO

Entrez Id:	652
Gene Symbol:	BMP4

BMP4

0.100

Biomarker

phenotype

HPO

Entrez Id:	6905
Gene Symbol:	TBCE

TBCE

0.100

Biomarker

phenotype

HPO

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

0.100

Biomarker

phenotype

HPO

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	389827
Gene Symbol:	MYMK

MYMK

0.100

Biomarker

phenotype

HPO

Entrez Id:	5194
Gene Symbol:	PEX13

PEX13

0.100

Biomarker

phenotype

HPO

Entrez Id:	6843
Gene Symbol:	VAMP1

VAMP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	8799
Gene Symbol:	PEX11B

PEX11B

0.100

Biomarker

phenotype

HPO

Entrez Id:	200205
Gene Symbol:	IBA57

IBA57

0.100

Biomarker

phenotype

HPO

Entrez Id:	55033
Gene Symbol:	FKBP14

FKBP14

0.100

Biomarker

phenotype

HPO

Entrez Id:	51244
Gene Symbol:	CCDC174

CCDC174

0.100

Biomarker

phenotype

HPO

Entrez Id:	55624
Gene Symbol:	POMGNT1

POMGNT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	6576
Gene Symbol:	SLC25A1

SLC25A1

0.100

Biomarker

phenotype

HPO