DisGeNET - a database of gene-disease associations

DNAAF4, dynein axonemal assembly factor 4, 161582

N. diseases: 70; N. variants: 12

Disease: CILIARY DYSKINESIA, PRIMARY, 25 ×

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:

rs397515621

rs397515621

1.000

15

55439557

stop gained

G/A;C

snv

1.2E-05

CUI:	C3809641
Disease:	CILIARY DYSKINESIA, PRIMARY, 25

CILIARY DYSKINESIA, PRIMARY, 25

0.700

dbSNP:

rs397515622

rs397515622

1.000

15

55491203

stop gained

C/A

snv

CUI:	C3809641
Disease:	CILIARY DYSKINESIA, PRIMARY, 25

CILIARY DYSKINESIA, PRIMARY, 25

0.700