DisGeNET - a database of gene-disease associations

Source: HPO

Gene: CEP290 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0431399
Disease:	Familial aplasia of the vermis

Familial aplasia of the vermis

0.200

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0456909
Disease:	Blindness

Blindness

0.190

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0687120
Disease:	Nephronophthisis

Nephronophthisis

0.160

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.160

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0035334
Disease:	Retinitis Pigmentosa

Retinitis Pigmentosa

0.150

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0005754
Disease:	Congenital blindness

Congenital blindness

0.110

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0020255
Disease:	Hydrocephalus

Hydrocephalus

0.110

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0022658
Disease:	Kidney Diseases

Kidney Diseases

0.110

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0239946
Disease:	Fibrosis, Liver

Fibrosis, Liver

0.110

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C3714756
Disease:	Intellectual Disability

Intellectual Disability

0.110

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C3887499
Disease:	Renal cyst

Renal cyst

0.110

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C4551714
Disease:	Rod-Cone Dystrophy

Rod-Cone Dystrophy

0.110

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0002902
Disease:	Anencephaly

Anencephaly

0.100

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0003119
Disease:	Anophthalmos

Anophthalmos

0.100

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0003578
Disease:	Apnea

Apnea

0.100

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0004134
Disease:	Ataxia

Ataxia

0.100

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0005745
Disease:	Blepharoptosis

Blepharoptosis

0.100

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0008925
Disease:	Cleft Palate

Cleft Palate

0.100

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0009714
Disease:	Hepatic Fibrosis, Congenital

Hepatic Fibrosis, Congenital

0.100

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0010417
Disease:	Cryptorchidism

Cryptorchidism

0.100

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0010964
Disease:	Dandy-Walker Syndrome

Dandy-Walker Syndrome

0.100

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0013336
Disease:	Dwarfism

Dwarfism

0.100

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0014065
Disease:	Congenital cerebral hernia

Congenital cerebral hernia

0.100

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0015934
Disease:	Fetal Growth Retardation

Fetal Growth Retardation

0.100

Biomarker

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

CUI:	C0018817
Disease:	Atrial Septal Defects

Atrial Septal Defects

0.100

Biomarker

HPO