DisGeNET - a database of gene-disease associations

Cystinosis, benign, nonnephropathic, C2931013

Variant: rs893207601 ×

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:

rs893207601

CTNS ; LOC105371492

0.700

CausalMutation

CLINVAR

Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital.

27858370

2017

dbSNP:

rs893207601

CTNS ; LOC105371492

0.700

CausalMutation

CLINVAR

Analysis of the CTNS gene in 32 cystinosis patients from Spain.

19863563

2009

dbSNP:

rs893207601

CTNS ; LOC105371492

0.700

CausalMutation

CLINVAR

Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.

18178779

2008

dbSNP:

rs893207601

CTNS ; LOC105371492

0.700

CausalMutation

CLINVAR

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

9792862

1998