DisGeNET - a database of gene-disease associations

Cystinosis, benign, nonnephropathic, C2931013

Variant: rs113994205 ×

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:

rs113994205

CTNS ; LOC105371492

0.700

CausalMutation

CLINVAR

Expression of CTNS alleles: subcellular localization and aminoglycoside correction in vitro.

11855931

2002

dbSNP:

rs113994205

CTNS ; LOC105371492

0.700

CausalMutation

CLINVAR

Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation.

10482956

1999

dbSNP:

rs113994205

CTNS ; LOC105371492

0.700

CausalMutation

CLINVAR

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.

9537412

1998

dbSNP:

rs113994205

CTNS ; LOC105371492

0.700

CausalMutation

CLINVAR

CTNS mutations in an American-based population of cystinosis patients.

9792862

1998