DisGeNET - a database of gene-disease associations

rs397515634, UCHL1-AS1;UCHL1

N. diseases: 3

Disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE ×

Source: ALL

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE

CUI:	C3809665
Disease:	SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Novel UCHL1 mutations reveal new insights into ubiquitin processing.

28007905

2017

SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE

CUI:	C3809665
Disease:	SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration.

23359680

2013

SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE

CUI:	C3809665
Disease:	SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR