DisGeNET - a database of gene-disease associations

SPG7, SPG7 matrix AAA peptidase subunit, paraplegin, 6687

N. diseases: 419; N. variants: 44

Disease: Cerebellar atrophy ×

Source: ALL

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0740279
Disease:	Cerebellar atrophy

Cerebellar atrophy

0.110

GeneticVariation

disease

BEFREE

Cerebellar signs or cerebellar atrophy on brain imaging were the most frequent additional features in patients with SPG7 HSP.

2006

CUI:	C0740279
Disease:	Cerebellar atrophy

Cerebellar atrophy

0.110

Biomarker

disease

HPO