DisGeNET - a database of gene-disease associations

Spastic Paraplegia, C0037772

Variant: rs72554620 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs72554620

CYP7B1

0.700

CausalMutation

CLINVAR

Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis.

19812052

2010

dbSNP:

rs72554620

CYP7B1

0.700

CausalMutation

CLINVAR

Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.

18252231

2008

dbSNP:

rs72554620

CYP7B1

0.700

CausalMutation

CLINVAR

Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease.

9802883

1998