DisGeNET - a database of gene-disease associations

rs375053470, DNAH5

N. diseases: 2

Disease: Ciliary Motility Disorders ×

Source: ALL

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Ciliary Motility Disorders

CUI:	C0008780
Disease:	Ciliary Motility Disorders

0.700

CausalMutation

CLINVAR

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

2002