DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Optic Atrophy ×

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	8573
Gene Symbol:	CASK

CASK

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.120

Biomarker

HPO

Entrez Id:	10730
Gene Symbol:	YME1L1

YME1L1

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.110

Biomarker

HPO

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.110

Biomarker

HPO

Entrez Id:	10312
Gene Symbol:	TCIRG1

TCIRG1

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.110

Biomarker

HPO

Entrez Id:	1678
Gene Symbol:	TIMM8A

TIMM8A

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.110

Biomarker

HPO

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.110

Biomarker

HPO

Entrez Id:	6389
Gene Symbol:	SDHA

SDHA

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.110

Biomarker

HPO

Entrez Id:	6310
Gene Symbol:	ATXN1

ATXN1

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.110

Biomarker

HPO

Entrez Id:	4724
Gene Symbol:	NDUFS4

NDUFS4

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.110

Biomarker

HPO

Entrez Id:	28962
Gene Symbol:	OSTM1

OSTM1

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.110

Biomarker

HPO

Entrez Id:	4540
Gene Symbol:	ND5

ND5

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.110

Biomarker

HPO

Entrez Id:	7345
Gene Symbol:	UCHL1

UCHL1

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.110

Biomarker

HPO

Entrez Id:	2395
Gene Symbol:	FXN

FXN

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.110

Biomarker

HPO

Entrez Id:	1201
Gene Symbol:	CLN3

CLN3

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.110

Biomarker

HPO

Entrez Id:	2232
Gene Symbol:	FDXR

FDXR

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.110

Biomarker

HPO

Entrez Id:	4535
Gene Symbol:	ND1

ND1

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.110

Biomarker

HPO

Entrez Id:	478
Gene Symbol:	ATP1A3

ATP1A3

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.110

Biomarker

HPO

Entrez Id:	51102
Gene Symbol:	MECR

MECR

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.110

GeneticVariation

CLINVAR

Entrez Id:	92609
Gene Symbol:	TIMM50

TIMM50

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.110

Biomarker

HPO

Entrez Id:	8086
Gene Symbol:	AAAS

AAAS

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.110

Biomarker

HPO

Entrez Id:	56947
Gene Symbol:	MFF

MFF

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.110

Biomarker

HPO

Entrez Id:	4538
Gene Symbol:	ND4

ND4

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.110

Biomarker

HPO

Entrez Id:	51102
Gene Symbol:	MECR

MECR

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.110

Biomarker

HPO

Entrez Id:	6314
Gene Symbol:	ATXN7

ATXN7

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.110

Biomarker

HPO

Entrez Id:	79581
Gene Symbol:	SLC52A2

SLC52A2

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.110

Biomarker

HPO