DisGeNET - a database of gene-disease associations

Byzanthine arch palate, C0240635

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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:	144568
Gene Symbol:	A2ML1

A2ML1

0.100

Biomarker

disease

HPO

Entrez Id:	368
Gene Symbol:	ABCC6

ABCC6

0.100

Biomarker

disease

HPO

Entrez Id:	25
Gene Symbol:	ABL1

ABL1

0.100

Biomarker

disease

HPO

Entrez Id:	58
Gene Symbol:	ACTA1

ACTA1

0.100

Biomarker

disease

HPO

Entrez Id:	51412
Gene Symbol:	ACTL6B

ACTL6B

0.100

GeneticVariation

disease

CLINVAR

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

2019

Entrez Id:	53616
Gene Symbol:	ADAM22

ADAM22

0.100

Biomarker

disease

HPO

Entrez Id:	165
Gene Symbol:	AEBP1

AEBP1

0.100

Biomarker

disease

HPO

Entrez Id:	375790
Gene Symbol:	AGRN

AGRN

0.100

Biomarker

disease

HPO

Entrez Id:	23287
Gene Symbol:	AGTPBP1

AGTPBP1

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	221264
Gene Symbol:	AK9

AK9

0.100

Biomarker

disease

HPO

Entrez Id:	207
Gene Symbol:	AKT1

AKT1

0.100

Biomarker

disease

HPO

Entrez Id:	4329
Gene Symbol:	ALDH6A1

ALDH6A1

0.100

Biomarker

disease

HPO

Entrez Id:	199857
Gene Symbol:	ALG14

ALG14

0.100

Biomarker

disease

HPO

Entrez Id:	85365
Gene Symbol:	ALG2

ALG2

0.100

Biomarker

disease

HPO

Entrez Id:	10195
Gene Symbol:	ALG3

ALG3

0.100

Biomarker

disease

HPO

Entrez Id:	286
Gene Symbol:	ANK1

ANK1

0.100

Biomarker

disease

HPO

Entrez Id:	29123
Gene Symbol:	ANKRD11

ANKRD11

0.100

Biomarker

disease

HPO

Entrez Id:	3730
Gene Symbol:	ANOS1

ANOS1

0.100

Biomarker

disease

HPO

Entrez Id:	8905
Gene Symbol:	AP1S2

AP1S2

0.100

Biomarker

disease

HPO

Entrez Id:	10717
Gene Symbol:	AP4B1

AP4B1

0.100

Biomarker

disease

HPO

Entrez Id:	23431
Gene Symbol:	AP4E1

AP4E1

0.100

Biomarker

disease

HPO

Entrez Id:	9179
Gene Symbol:	AP4M1

AP4M1

0.100

Biomarker

disease

HPO

Entrez Id:	11154
Gene Symbol:	AP4S1

AP4S1

0.100

Biomarker

disease

HPO

Entrez Id:	324
Gene Symbol:	APC

APC

0.100

Biomarker

disease

HPO

Entrez Id:	10297
Gene Symbol:	APC2

APC2

0.100

Biomarker

disease

HPO