DisGeNET - a database of gene-disease associations

Poor eye contact, C1445953

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:	158
Gene Symbol:	ADSL

ADSL

0.100

Biomarker

phenotype

HPO

Entrez Id:	23287
Gene Symbol:	AGTPBP1

AGTPBP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	79868
Gene Symbol:	ALG13

ALG13

0.100

Biomarker

phenotype

HPO

Entrez Id:	8120
Gene Symbol:	AP3B2

AP3B2

0.100

Biomarker

phenotype

HPO

Entrez Id:	10564
Gene Symbol:	ARFGEF2

ARFGEF2

0.100

Biomarker

phenotype

HPO

Entrez Id:	9254
Gene Symbol:	CACNA2D2

CACNA2D2

0.100

Biomarker

phenotype

HPO

Entrez Id:	6792
Gene Symbol:	CDKL5

CDKL5

0.100

Biomarker

phenotype

HPO

Entrez Id:	10978
Gene Symbol:	CLP1

CLP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1291
Gene Symbol:	COL6A1

COL6A1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	23316
Gene Symbol:	CUX2

CUX2

0.100

Biomarker

phenotype

HPO

Entrez Id:	10522
Gene Symbol:	DEAF1

DEAF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	201163
Gene Symbol:	FLCN

FLCN

0.100

Biomarker

phenotype

HPO

Entrez Id:	2332
Gene Symbol:	FMR1

FMR1

0.100

Biomarker

phenotype

HPO

Entrez Id:	2290
Gene Symbol:	FOXG1

FOXG1

0.100

Biomarker

phenotype

HPO

Entrez Id:	55572
Gene Symbol:	FOXRED1

FOXRED1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9758
Gene Symbol:	FRMPD4

FRMPD4

0.100

Biomarker

phenotype

HPO

Entrez Id:	2643
Gene Symbol:	GCH1

GCH1

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	85476
Gene Symbol:	GFM1

GFM1

0.100

Biomarker

phenotype

HPO

Entrez Id:	10243
Gene Symbol:	GPHN

GPHN

0.100

Biomarker

phenotype

HPO

Entrez Id:	4935
Gene Symbol:	GPR143

GPR143

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	2892
Gene Symbol:	GRIA3

GRIA3

0.100

Biomarker

phenotype

HPO

Entrez Id:	2902
Gene Symbol:	GRIN1

GRIN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	3658
Gene Symbol:	IREB2

IREB2

0.100

Biomarker

phenotype

HPO

Entrez Id:	54551
Gene Symbol:	MAGEL2

MAGEL2

0.100

CausalMutation

phenotype

CLINVAR