DisGeNET - a database of gene-disease associations

HYDIN, HYDIN axonemal central pair apparatus protein, 54768

N. diseases: 61; N. variants: 7

Disease: Ciliary Dyskinesia, Primary, 5 ×

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:

rs373501414

1.000

0.120

70991397

splice acceptor variant

C/A;T

snv

1.6E-05; 8.0E-06

CUI:	C1837615
Disease:	Ciliary Dyskinesia, Primary, 5

Ciliary Dyskinesia, Primary, 5

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

0.700

dbSNP:

rs397515413

0.925

0.160

70988133

missense variant

C/A

snv

CUI:	C1837615
Disease:	Ciliary Dyskinesia, Primary, 5

Ciliary Dyskinesia, Primary, 5

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

0.700

dbSNP:

rs397515414

0.882

0.160

71137272

stop gained

T/A

snv

CUI:	C1837615
Disease:	Ciliary Dyskinesia, Primary, 5

Ciliary Dyskinesia, Primary, 5

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

0.700