DisGeNET - a database of gene-disease associations

Sunken eyes, C0423224

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:	5631
Gene Symbol:	PRPS1

PRPS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	23404
Gene Symbol:	EXOSC2

EXOSC2

0.100

Biomarker

phenotype

HPO

Entrez Id:	8091
Gene Symbol:	HMGA2

HMGA2

0.100

Biomarker

phenotype

HPO

Entrez Id:	55699
Gene Symbol:	IARS2

IARS2

0.100

Biomarker

phenotype

HPO

Entrez Id:	2033
Gene Symbol:	EP300

EP300

0.100

Biomarker

phenotype

HPO

Entrez Id:	55904
Gene Symbol:	KMT2E

KMT2E

0.100

Biomarker

phenotype

HPO

Entrez Id:	10059
Gene Symbol:	DNM1L

DNM1L

0.100

Biomarker

phenotype

HPO

Entrez Id:	7319
Gene Symbol:	UBE2A

UBE2A

0.100

Biomarker

phenotype

HPO

Entrez Id:	6872
Gene Symbol:	TAF1

TAF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	8514
Gene Symbol:	KCNAB2

KCNAB2

0.100

Biomarker

phenotype

HPO

Entrez Id:	79876
Gene Symbol:	UBA5

UBA5

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	55644
Gene Symbol:	OSGEP

OSGEP

0.100

Biomarker

phenotype

HPO

Entrez Id:	4803
Gene Symbol:	NGF

NGF

0.100

Biomarker

phenotype

HPO

Entrez Id:	8905
Gene Symbol:	AP1S2

AP1S2

0.100

Biomarker

phenotype

HPO

Entrez Id:	26137
Gene Symbol:	ZBTB20

ZBTB20

0.100

Biomarker

phenotype

HPO

Entrez Id:	84570
Gene Symbol:	COL25A1

COL25A1

0.100

Biomarker

phenotype

HPO

Entrez Id:	3786
Gene Symbol:	KCNQ3

KCNQ3

0.100

Biomarker

phenotype

HPO

Entrez Id:	2332
Gene Symbol:	FMR1

FMR1

0.100

Biomarker

phenotype

HPO

Entrez Id:	10075
Gene Symbol:	HUWE1

HUWE1

0.100

Biomarker

phenotype

HPO

Entrez Id:	54496
Gene Symbol:	PRMT7

PRMT7

0.100

Biomarker

phenotype

HPO

Entrez Id:	4212
Gene Symbol:	MEIS2

MEIS2

0.100

Biomarker

phenotype

HPO

Entrez Id:	91801
Gene Symbol:	ALKBH8

ALKBH8

0.100

Biomarker

phenotype

HPO

Entrez Id:	5290
Gene Symbol:	PIK3CA

PIK3CA

0.100

Biomarker

phenotype

HPO

Entrez Id:	63976
Gene Symbol:	PRDM16

PRDM16

0.100

Biomarker

phenotype

HPO