DisGeNET - a database of gene-disease associations

CEROID LIPOFUSCINOSIS, NEURONAL, 2, C1876161

Variant: rs1184563885 ×

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:

rs1184563885

rs1184563885

TPP1

A

0.700

CausalMutation

CLINVAR

A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children.

2000

dbSNP:

rs1184563885

rs1184563885

TPP1

A

0.700

GeneticVariation

CLINVAR