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:	6904
Gene Symbol:	TBCD

TBCD

tubulin folding cofactor D

0.599

0.615

1.0E-07

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.400

None

1.000

2016

Entrez Id:	5376
Gene Symbol:	PMP22

PMP22

peripheral myelin protein 22

0.471

0.885

0.91

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.300

None

1.000

2002

Entrez Id:	4337
Gene Symbol:	MOCS1

MOCS1

molybdenum cofactor synthesis 1

0.743

0.231

9.1E-07

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	56978
Gene Symbol:	PRDM8

PRDM8

PR/SET domain 8

0.678

0.462

0.78

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	57192
Gene Symbol:	MCOLN1

MCOLN1

mucolipin 1

0.601

0.654

5.8E-04

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:	5903
Gene Symbol:	RANBP2

RANBP2

RAN binding protein 2

0.578

0.615

1.00

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	6326
Gene Symbol:	SCN2A

SCN2A

sodium voltage-gated channel alpha subunit 2

0.518

0.731

1.00

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	6328
Gene Symbol:	SCN3A

SCN3A

sodium voltage-gated channel alpha subunit 3

0.617

0.538

1.00

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	64135
Gene Symbol:	IFIH1

IFIH1

interferon induced with helicase C domain 1

0.471

0.808

7.0E-44

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	56945
Gene Symbol:	MRPS22

MRPS22

mitochondrial ribosomal protein S22

0.638

0.500

1.5E-05

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	55275
Gene Symbol:	VPS53

VPS53

VPS53 subunit of GARP complex

0.659

0.654

1.4E-07

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	4338
Gene Symbol:	MOCS2

MOCS2

molybdenum cofactor synthesis 2

0.729

0.308

4.6E-04

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:	4990
Gene Symbol:	SIX6

SIX6

SIX homeobox 6

0.588

0.654

0.52

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	51091
Gene Symbol:	SEPSECS

SEPSECS

Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase

0.656

0.423

1.6E-08

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	51294
Gene Symbol:	PCDH12

PCDH12

protocadherin 12

0.722

0.346

2.9E-13

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	51633
Gene Symbol:	OTUD6B

OTUD6B

OTU deubiquitinase 6B

0.659

0.538

1.3E-07

CUI:	C0426970
Disease:	Spastic Quadriplegia

Spastic Quadriplegia

disease

0.100

None

Entrez Id:	54820
Gene Symbol:	NDE1

NDE1

nudE neurodevelopment protein 1

0.608

0.462

6.7E-03

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:	64207
Gene Symbol:	IRF2BPL

IRF2BPL

interferon regulatory factor 2 binding protein like

0.631

0.462

0.84

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:	6509
Gene Symbol:	SLC1A4

SLC1A4

solute carrier family 1 member 4

0.700

0.385

6.6E-02

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:	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