DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Osteoporosis ×

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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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	100151683
Gene Symbol:	RNU4ATAC

RNU4ATAC

RNA, U4atac small nuclear (U12-dependent splicing)

0.556

0.808

CUI:	C0029456
Disease:	Osteoporosis

Osteoporosis

disease

0.100

None

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

ATP binding cassette subfamily C member 9

0.552

0.692

9.4E-09

CUI:	C0029456
Disease:	Osteoporosis

Osteoporosis

disease

0.100

None

Entrez Id:	10516
Gene Symbol:	FBLN5

FBLN5

fibulin 5

0.546

0.692

1.00

CUI:	C0029456
Disease:	Osteoporosis

Osteoporosis

disease

0.100

None

Entrez Id:	10555
Gene Symbol:	AGPAT2

AGPAT2

1-acylglycerol-3-phosphate O-acyltransferase 2

0.585

0.654

1.2E-07

CUI:	C0029456
Disease:	Osteoporosis

Osteoporosis

disease

0.100

None

Entrez Id:	11107
Gene Symbol:	PRDM5

PRDM5

PR/SET domain 5

0.621

0.654

3.6E-10

CUI:	C0029456
Disease:	Osteoporosis

Osteoporosis

disease

0.100

None

Entrez Id:	11232
Gene Symbol:	POLG2

POLG2

DNA polymerase gamma 2, accessory subunit

0.558

0.769

1.5E-10

CUI:	C0029456
Disease:	Osteoporosis

Osteoporosis

disease

0.100

None

Entrez Id:	112752
Gene Symbol:	IFT43

IFT43

intraflagellar transport 43

0.617

0.577

1.8E-11

CUI:	C0029456
Disease:	Osteoporosis

Osteoporosis

disease

0.100

None

Entrez Id:	124583
Gene Symbol:	CANT1

CANT1

calcium activated nucleotidase 1

0.619

0.731

2.5E-06

CUI:	C0029456
Disease:	Osteoporosis

Osteoporosis

disease

0.100

None

Entrez Id:	126792
Gene Symbol:	B3GALT6

B3GALT6

beta-1,3-galactosyltransferase 6

0.631

0.615

2.3E-02

CUI:	C0029456
Disease:	Osteoporosis

Osteoporosis

disease

0.100

None

Entrez Id:	128674
Gene Symbol:	PROKR2

PROKR2

prokineticin receptor 2

0.538

0.731

2.4E-06

CUI:	C0029456
Disease:	Osteoporosis

Osteoporosis

disease

0.100

None

Entrez Id:	1294
Gene Symbol:	COL7A1

COL7A1

collagen type VII alpha 1 chain

0.545

0.808

2.4E-40

CUI:	C0029456
Disease:	Osteoporosis

Osteoporosis

disease

0.100

None

Entrez Id:	1528
Gene Symbol:	CYB5A

CYB5A

cytochrome b5 type A

0.601

0.654

1.6E-03

CUI:	C0029456
Disease:	Osteoporosis

Osteoporosis

disease

0.100

None

Entrez Id:	1583
Gene Symbol:	CYP11A1

CYP11A1

cytochrome P450 family 11 subfamily A member 1

0.547

0.731

5.5E-07

CUI:	C0029456
Disease:	Osteoporosis

Osteoporosis

disease

0.100

None

Entrez Id:	1584
Gene Symbol:	CYP11B1

CYP11B1

cytochrome P450 family 11 subfamily B member 1

0.563

0.615

8.2E-07

CUI:	C0029456
Disease:	Osteoporosis

Osteoporosis

disease

0.100

None

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

cytochrome P450 family 27 subfamily A member 1

0.538

0.731

5.3E-19

CUI:	C0029456
Disease:	Osteoporosis

Osteoporosis

disease

0.100

None

Entrez Id:	1736
Gene Symbol:	DKC1

DKC1

dyskerin pseudouridine synthase 1

0.547

0.769

1.00

CUI:	C0029456
Disease:	Osteoporosis

Osteoporosis

disease

0.100

None

Entrez Id:	1848
Gene Symbol:	DUSP6

DUSP6

dual specificity phosphatase 6

0.511

0.846

0.98

CUI:	C0029456
Disease:	Osteoporosis

Osteoporosis

disease

0.100

None

Entrez Id:	190
Gene Symbol:	NR0B1

NR0B1

nuclear receptor subfamily 0 group B member 1

0.494

0.808

0.97

CUI:	C0029456
Disease:	Osteoporosis

Osteoporosis

disease

0.100

None

Entrez Id:	2006
Gene Symbol:	ELN

ELN

elastin

0.415

0.885

2.1E-14

CUI:	C0029456
Disease:	Osteoporosis

Osteoporosis

disease

0.100

None

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

ERCC excision repair 6, chromatin remodeling factor

0.507

0.808

5.2E-22

CUI:	C0029456
Disease:	Osteoporosis

Osteoporosis

disease

0.100

None

Entrez Id:	2253
Gene Symbol:	FGF8

FGF8

fibroblast growth factor 8

0.507

0.769

0.68

CUI:	C0029456
Disease:	Osteoporosis

Osteoporosis

disease

0.100

None

Entrez Id:	22930
Gene Symbol:	RAB3GAP1

RAB3GAP1

RAB3 GTPase activating protein catalytic subunit 1

0.566

0.692

1.5E-07

CUI:	C0029456
Disease:	Osteoporosis

Osteoporosis

disease

0.100

None

Entrez Id:	23414
Gene Symbol:	ZFPM2

ZFPM2

zinc finger protein, FOG family member 2

0.565

0.731

1.00

CUI:	C0029456
Disease:	Osteoporosis

Osteoporosis

disease

0.100

None

Entrez Id:	23534
Gene Symbol:	TNPO3

TNPO3

transportin 3

0.663

0.577

1.8E-06

CUI:	C0029456
Disease:	Osteoporosis

Osteoporosis

disease

0.100

None

Entrez Id:	2516
Gene Symbol:	NR5A1

NR5A1

nuclear receptor subfamily 5 group A member 1

0.479

0.731

0.99

CUI:	C0029456
Disease:	Osteoporosis

Osteoporosis

disease

0.100

None