DisGeNET - a database of gene-disease associations

Widened subarachnoid space, C1846151

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:	51412
Gene Symbol:	ACTL6B

ACTL6B

0.100

GeneticVariation

phenotype

CLINVAR

Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

2019

Entrez Id:	8239
Gene Symbol:	USP9X

USP9X

0.100

Biomarker

phenotype

HPO

Entrez Id:	79868
Gene Symbol:	ALG13

ALG13

0.100

Biomarker

phenotype

HPO

Entrez Id:	6855
Gene Symbol:	SYP

SYP

0.100

Biomarker

phenotype

HPO

Entrez Id:	1756
Gene Symbol:	DMD

DMD

0.100

Biomarker

phenotype

HPO

Entrez Id:	11141
Gene Symbol:	IL1RAPL1

IL1RAPL1

0.100

Biomarker

phenotype

HPO

Entrez Id:	84679
Gene Symbol:	SLC9A7

SLC9A7

0.100

Biomarker

phenotype

HPO

Entrez Id:	11043
Gene Symbol:	MID2

MID2

0.100

Biomarker

phenotype

HPO

Entrez Id:	2664
Gene Symbol:	GDI1

GDI1

0.100

Biomarker

phenotype

HPO

Entrez Id:	2182
Gene Symbol:	ACSL4

ACSL4

0.100

Biomarker

phenotype

HPO

Entrez Id:	22866
Gene Symbol:	CNKSR2

CNKSR2

0.100

Biomarker

phenotype

HPO

Entrez Id:	6197
Gene Symbol:	RPS6KA3

RPS6KA3

0.100

Biomarker

phenotype

HPO

Entrez Id:	139411
Gene Symbol:	PTCHD1

PTCHD1

0.100

Biomarker

phenotype

HPO

Entrez Id:	440138
Gene Symbol:	ALG11

ALG11

0.100

Biomarker

phenotype

HPO

Entrez Id:	7102
Gene Symbol:	TSPAN7

TSPAN7

0.100

Biomarker

phenotype

HPO

Entrez Id:	7592
Gene Symbol:	ZNF41

ZNF41

0.100

Biomarker

phenotype

HPO

Entrez Id:	65109
Gene Symbol:	UPF3B

UPF3B

0.100

Biomarker

phenotype

HPO

Entrez Id:	9968
Gene Symbol:	MED12

MED12

0.100

Biomarker

phenotype

HPO

Entrez Id:	186
Gene Symbol:	AGTR2

AGTR2

0.100

Biomarker

phenotype

HPO

Entrez Id:	9459
Gene Symbol:	ARHGEF6

ARHGEF6

0.100

Biomarker

phenotype

HPO

Entrez Id:	191
Gene Symbol:	AHCY

AHCY

0.100

Biomarker

phenotype

HPO

Entrez Id:	7552
Gene Symbol:	ZNF711

ZNF711

0.100

Biomarker

phenotype

HPO

Entrez Id:	24140
Gene Symbol:	FTSJ1

FTSJ1

0.100

Biomarker

phenotype

HPO

Entrez Id:	23096
Gene Symbol:	IQSEC2

IQSEC2

0.100

Biomarker

phenotype

HPO

Entrez Id:	116442
Gene Symbol:	RAB39B

RAB39B

0.100

Biomarker

phenotype

HPO