DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Thoracolumbar scoliosis ×

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:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0749379
Disease:	Thoracolumbar scoliosis

Thoracolumbar scoliosis

0.100

GeneticVariation

CLINVAR

First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

9452087

1998

Entrez Id:	63895
Gene Symbol:	PIEZO2

PIEZO2

CUI:	C0749379
Disease:	Thoracolumbar scoliosis

Thoracolumbar scoliosis

0.100

GeneticVariation

CLINVAR

Entrez Id:	5351
Gene Symbol:	PLOD1

PLOD1

CUI:	C0749379
Disease:	Thoracolumbar scoliosis

Thoracolumbar scoliosis

0.100

CausalMutation

CLINVAR

Entrez Id:	63895
Gene Symbol:	PIEZO2

PIEZO2

CUI:	C0749379
Disease:	Thoracolumbar scoliosis

Thoracolumbar scoliosis

0.100

CausalMutation

CLINVAR

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C0749379
Disease:	Thoracolumbar scoliosis

Thoracolumbar scoliosis

0.100

GeneticVariation

CLINVAR

Entrez Id:	6197
Gene Symbol:	RPS6KA3

RPS6KA3

CUI:	C0749379
Disease:	Thoracolumbar scoliosis

Thoracolumbar scoliosis

0.100

GeneticVariation

CLINVAR

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C0749379
Disease:	Thoracolumbar scoliosis

Thoracolumbar scoliosis

0.100

GeneticVariation

CLINVAR

Entrez Id:	2629
Gene Symbol:	GBA

GBA

CUI:	C0749379
Disease:	Thoracolumbar scoliosis

Thoracolumbar scoliosis

0.100

SusceptibilityMutation

CLINVAR

Entrez Id:	100506866
Gene Symbol:	TTN-AS1

TTN-AS1

CUI:	C0749379
Disease:	Thoracolumbar scoliosis

Thoracolumbar scoliosis

0.100

CausalMutation

CLINVAR

Entrez Id:	55033
Gene Symbol:	FKBP14

FKBP14

CUI:	C0749379
Disease:	Thoracolumbar scoliosis

Thoracolumbar scoliosis

0.100

CausalMutation

CLINVAR

Entrez Id:	9772
Gene Symbol:	TMEM94

TMEM94

CUI:	C0749379
Disease:	Thoracolumbar scoliosis

Thoracolumbar scoliosis

0.100

CausalMutation

CLINVAR

Entrez Id:	6660
Gene Symbol:	SOX5

SOX5

CUI:	C0749379
Disease:	Thoracolumbar scoliosis

Thoracolumbar scoliosis

0.100

GeneticVariation

CLINVAR

Entrez Id:	2201
Gene Symbol:	FBN2

FBN2

CUI:	C0749379
Disease:	Thoracolumbar scoliosis

Thoracolumbar scoliosis

0.100

GeneticVariation

CLINVAR

Entrez Id:	7273
Gene Symbol:	TTN

TTN

CUI:	C0749379
Disease:	Thoracolumbar scoliosis

Thoracolumbar scoliosis

0.100

CausalMutation

CLINVAR

Entrez Id:	7273
Gene Symbol:	TTN

TTN

CUI:	C0749379
Disease:	Thoracolumbar scoliosis

Thoracolumbar scoliosis

0.100

GeneticVariation

CLINVAR