DisGeNET - a database of gene-disease associations

Ciliary Dyskinesia, Primary, 5, C1837615

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

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs373501414

rs373501414

HYDIN

1

1.000

0.120

16

70991397

splice acceptor variant

C/A;T

snv

1.6E-05; 8.0E-06

0.700

dbSNP:

rs397515413

rs397515413

HYDIN

2

0.925

0.160

16

70988133

missense variant

C/A

snv

0.700

dbSNP:

rs397515414

rs397515414

HYDIN

3

0.882

0.160

16

71137272

stop gained

T/A

snv

0.700