DisGeNET - a database of gene-disease associations

NEPHRONOPHTHISIS 18, C3890591

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:

rs587777487

rs587777487

CEP83

0.800

GeneticVariation

UNIPROT

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.

2014

dbSNP:

rs587777487

rs587777487

CEP83

G

0.800

CausalMutation

CLINVAR

dbSNP:

rs1207804224

rs1207804224

CEP83

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs368619022

rs368619022

CEP83

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs369483167

rs369483167

CEP83

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777486

rs587777486

CEP83

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs587777488

rs587777488

CEP83

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs879255575

rs879255575

CEP83

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs879255576

rs879255576

CEP83

A

0.700

CausalMutation

CLINVAR