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:	5193
Gene Symbol:	PEX12

PEX12

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	11128
Gene Symbol:	POLR3A

POLR3A

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	22866
Gene Symbol:	CNKSR2

CNKSR2

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	114548
Gene Symbol:	NLRP3

NLRP3

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	51256
Gene Symbol:	TBC1D7

TBC1D7

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	1406
Gene Symbol:	CRX

CRX

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	5538
Gene Symbol:	PPT1

PPT1

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	4285
Gene Symbol:	MIPEP

MIPEP

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

GeneticVariation

CLINVAR

Entrez Id:	1716
Gene Symbol:	DGUOK

DGUOK

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	8831
Gene Symbol:	SYNGAP1

SYNGAP1

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	6101
Gene Symbol:	RP1

RP1

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	6452
Gene Symbol:	SH3BP2

SH3BP2

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	7439
Gene Symbol:	BEST1

BEST1

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	10413
Gene Symbol:	YAP1

YAP1

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	55704
Gene Symbol:	CCDC88A

CCDC88A

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	1917
Gene Symbol:	EEF1A2

EEF1A2

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	8600
Gene Symbol:	TNFSF11

TNFSF11

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	23568
Gene Symbol:	ARL2BP

ARL2BP

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	6017
Gene Symbol:	RLBP1

RLBP1

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	346007
Gene Symbol:	EYS

EYS

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	1736
Gene Symbol:	DKC1

DKC1

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	22868
Gene Symbol:	FASTKD2

FASTKD2

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO

Entrez Id:	79944
Gene Symbol:	L2HGDH

L2HGDH

CUI:	C0029124
Disease:	Optic Atrophy

Optic Atrophy

0.100

Biomarker

HPO