DisGeNET - a database of gene-disease associations

OFD1, OFD1 centriole and centriolar satellite protein, 8481

N. diseases: 261; N. variants: 125

Disease: Ciliary Motility Disorders ×

Variant: rs1569164829 ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1569164829

1.000

0.160

13768111

stop gained

G/T

snv

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases

0.700