DisGeNET - a database of gene-disease associations

CNNM4, cyclin and CBS domain divalent metal cation transport mediator 4, 26504

N. diseases: 39; N. variants: 9

Disease: Jalili syndrome ×

Variant: rs75267011 ×

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:

rs75267011

Entrez Id:	26504
Gene Symbol:	CNNM4

CNNM4

CUI:	C3495589
Disease:

Jalili syndrome

0.800

GeneticVariation

UNIPROT

Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.

19200527

2009

dbSNP:

rs75267011

Entrez Id:	26504
Gene Symbol:	CNNM4

CNNM4

CUI:	C3495589
Disease:

Jalili syndrome

0.800

GeneticVariation

UNIPROT

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.

19200525

2009

dbSNP:

rs75267011

Entrez Id:	26504
Gene Symbol:	CNNM4

CNNM4

CUI:	C3495589
Disease:

Jalili syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs75267011

Entrez Id:	26504
Gene Symbol:	CNNM4

CNNM4

CUI:	C3495589
Disease:

Jalili syndrome

0.800

GeneticVariation

CLINVAR