DisGeNET - a database of gene-disease associations

Infantile muscular hypotonia, C1860834

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:	285175
Gene Symbol:	UNC80

UNC80

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	8831
Gene Symbol:	SYNGAP1

SYNGAP1

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	1468
Gene Symbol:	SLC25A10

SLC25A10

0.100

GeneticVariation

phenotype

CLINVAR

SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.

2018

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	3190
Gene Symbol:	HNRNPK

HNRNPK

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	1822
Gene Symbol:	ATN1

ATN1

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	1291
Gene Symbol:	COL6A1

COL6A1

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	4041
Gene Symbol:	LRP5

LRP5

0.100

Biomarker

phenotype

HPO

Entrez Id:	546
Gene Symbol:	ATRX

ATRX

0.100

Biomarker

phenotype

HPO

Entrez Id:	7355
Gene Symbol:	SLC35A2

SLC35A2

0.100

Biomarker

phenotype

HPO

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

0.100

Biomarker

phenotype

HPO

Entrez Id:	57107
Gene Symbol:	PDSS2

PDSS2

0.100

Biomarker

phenotype

HPO

Entrez Id:	54658
Gene Symbol:	UGT1A1

UGT1A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	103
Gene Symbol:	ADAR

ADAR

0.100

Biomarker

phenotype

HPO

Entrez Id:	4750
Gene Symbol:	NEK1

NEK1

0.100

Biomarker

phenotype

HPO

Entrez Id:	79751
Gene Symbol:	SLC25A22

SLC25A22

0.100

Biomarker

phenotype

HPO

Entrez Id:	23636
Gene Symbol:	NUP62

NUP62

0.100

Biomarker

phenotype

HPO

Entrez Id:	84342
Gene Symbol:	COG8

COG8

0.100

Biomarker

phenotype

HPO

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

0.100

Biomarker

phenotype

HPO

Entrez Id:	4537
Gene Symbol:	ND3

ND3

0.100

Biomarker

phenotype

HPO

Entrez Id:	79147
Gene Symbol:	FKRP

FKRP

0.100

Biomarker

phenotype

HPO

Entrez Id:	8642
Gene Symbol:	DCHS1

DCHS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	4508
Gene Symbol:	ATP6

ATP6

0.100

Biomarker

phenotype

HPO

Entrez Id:	6611
Gene Symbol:	SMS

SMS

0.100

Biomarker

phenotype

HPO