DisGeNET - a database of gene-disease associations

Focal glomerulosclerosis, C0017668

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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:	50485
Gene Symbol:	SMARCAL1

SMARCAL1

0.130

CausalMutation

disease

CLINVAR

Entrez Id:	50485
Gene Symbol:	SMARCAL1

SMARCAL1

0.130

Biomarker

disease

HPO

Entrez Id:	51004
Gene Symbol:	COQ6

COQ6

0.120

Biomarker

disease

HPO

Entrez Id:	5800
Gene Symbol:	PTPRO

PTPRO

0.110

Biomarker

disease

HPO

Entrez Id:	3675
Gene Symbol:	ITGA3

ITGA3

0.110

Biomarker

disease

HPO

Entrez Id:	79934
Gene Symbol:	COQ8B

COQ8B

0.110

Biomarker

disease

HPO

Entrez Id:	57122
Gene Symbol:	NUP107

NUP107

0.110

Biomarker

disease

HPO

Entrez Id:	950
Gene Symbol:	SCARB2

SCARB2

0.110

Biomarker

disease

HPO

Entrez Id:	54885
Gene Symbol:	TBC1D8B

TBC1D8B

0.110

Biomarker

disease

HPO

Entrez Id:	1188
Gene Symbol:	CLCNKB

CLCNKB

0.110

Biomarker

disease

HPO

Entrez Id:	79902
Gene Symbol:	NUP85

NUP85

0.100

Biomarker

disease

HPO

Entrez Id:	65082
Gene Symbol:	VPS33A

VPS33A

0.100

Biomarker

disease

HPO

Entrez Id:	23165
Gene Symbol:	NUP205

NUP205

0.100

Biomarker

disease

HPO

Entrez Id:	1184
Gene Symbol:	CLCN5

CLCN5

0.100

Biomarker

disease

HPO

Entrez Id:	23279
Gene Symbol:	NUP160

NUP160

0.100

Biomarker

disease

HPO

Entrez Id:	79731
Gene Symbol:	NARS2

NARS2

0.100

Biomarker

disease

HPO

Entrez Id:	84942
Gene Symbol:	WDR73

WDR73

0.100

Biomarker

disease

HPO

Entrez Id:	81603
Gene Symbol:	TRIM8

TRIM8

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	6559
Gene Symbol:	SLC12A3

SLC12A3

0.100

Biomarker

disease

HPO

Entrez Id:	29927
Gene Symbol:	SEC61A1

SEC61A1

0.100

Biomarker

disease

HPO

Entrez Id:	2538
Gene Symbol:	G6PC

G6PC

0.100

Biomarker

disease

HPO

Entrez Id:	55746
Gene Symbol:	NUP133

NUP133

0.100

Biomarker

disease

HPO

Entrez Id:	9688
Gene Symbol:	NUP93

NUP93

0.100

Biomarker

disease

HPO

Entrez Id:	2542
Gene Symbol:	SLC37A4

SLC37A4

0.100

Biomarker

disease

HPO

Entrez Id:	406968
Gene Symbol:	MIR193A

MIR193A

0.020

AlteredExpression

disease

BEFREE

<i>Background</i>.Glomerular upregulation of miR-193a has been detected in primary focal segmental glomerulosclerosis (FSGS) but not in other glomerular diseases.

2017