DisGeNET - a database of gene-disease associations

CTNS, cystinosin, lysosomal cystine transporter, 1497

N. diseases: 88; N. variants: 71

Disease: Cystinosis ×

Variant: rs786204434 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs786204434

Entrez Id:	1497;105371492
Gene Symbol:	CTNS;LOC105371492

CTNS;LOC105371492

CUI:	C4316899
Disease:

Cystinosis

0.700

GeneticVariation

CLINVAR

Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.

12204010

2002