DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Spastic Quadriplegia ×

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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:	10717
Gene Symbol:	AP4B1

AP4B1

adaptor related protein complex 4 subunit beta 1

0.631

0.654

1.3E-09

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.010

None

1.000

2015

Entrez Id:	23431
Gene Symbol:	AP4E1

AP4E1

adaptor related protein complex 4 subunit epsilon 1

0.656

0.385

2.8E-03

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	9179
Gene Symbol:	AP4M1

AP4M1

adaptor related protein complex 4 subunit mu 1

0.638

0.500

4.5E-17

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	120
Gene Symbol:	ADD3

ADD3

adducin 3

0.641

0.500

1.00

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	103
Gene Symbol:	ADAR

ADAR

adenosine deaminase RNA specific

0.501

0.808

2.6E-02

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	2517
Gene Symbol:	FUCA1

FUCA1

alpha-L-fucosidase 1

0.623

0.577

2.7E-08

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	57679
Gene Symbol:	ALS2

ALS2

alsin Rho guanine nucleotide exchange factor ALS2

0.647

0.423

8.7E-12

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	23141
Gene Symbol:	ANKLE2

ANKLE2

ankyrin repeat and LEM domain containing 2

0.691

0.500

1.0E-10

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	170302
Gene Symbol:	ARX

ARX

aristaless related homeobox

0.516

0.654

0.91

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	410
Gene Symbol:	ARSA

ARSA

arylsulfatase A

0.448

0.923

1.1E-11

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	440
Gene Symbol:	ASNS

ASNS

asparagine synthetase (glutamine-hydrolyzing)

0.595

0.692

9.4E-06

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	171023
Gene Symbol:	ASXL1

ASXL1

ASXL transcriptional regulator 1

0.482

0.808

1.3E-14

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	23400
Gene Symbol:	ATP13A2

ATP13A2

ATPase cation transporting 13A2

0.566

0.577

9.0E-09

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	549
Gene Symbol:	AUH

AUH

AU RNA binding methylglutaconyl-CoA hydratase

0.686

0.346

8.0E-06

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	64919
Gene Symbol:	BCL11B

BCL11B

BAF chromatin remodeling complex subunit BCL11B

0.568

0.731

0.99

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	777
Gene Symbol:	CACNA1E

CACNA1E

calcium voltage-gated channel subunit alpha1 E

0.650

0.577

1.00

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	10695
Gene Symbol:	CNPY3

CNPY3

canopy FGF signaling regulator 3

0.805

0.269

0.40

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	1496
Gene Symbol:	CTNNA2

CTNNA2

catenin alpha 2

0.663

0.500

0.43

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	8436
Gene Symbol:	CAVIN2

CAVIN2

caveolae associated protein 2

0.617

0.615

7.2E-09

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.010

None

1.000

2019

Entrez Id:	1193
Gene Symbol:	CLIC2

CLIC2

chloride intracellular channel 2

0.700

0.500

5.0E-02

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	80347
Gene Symbol:	COASY

COASY

Coenzyme A synthase

0.551

0.654

8.1E-10

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	79709
Gene Symbol:	COLGALT1

COLGALT1

collagen beta(1-O)galactosyltransferase 1

0.760

0.346

5.9E-08

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	1436
Gene Symbol:	CSF1R

CSF1R

colony stimulating factor 1 receptor

0.448

0.808

0.13

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	22796
Gene Symbol:	COG2

COG2

component of oligomeric golgi complex 2

0.729

0.423

9.4E-06

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	1727
Gene Symbol:	CYB5R3

CYB5R3

cytochrome b5 reductase 3

0.638

0.654

1.9E-04

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None