DisGeNET - a database of gene-disease associations

DNAL1, dynein axonemal light chain 1, 83544

N. diseases: 45; N. variants: 3

Disease: CILIARY DYSKINESIA, PRIMARY, 16 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C3151460
Disease:	CILIARY DYSKINESIA, PRIMARY, 16

CILIARY DYSKINESIA, PRIMARY, 16

0.700

GeneticVariation

disease

UNIPROT

Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.

21496787

2011

CUI:	C3151460
Disease:	CILIARY DYSKINESIA, PRIMARY, 16

CILIARY DYSKINESIA, PRIMARY, 16

0.700

Biomarker

disease

GENOMICS_ENGLAND

Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.

21496787

2011

CUI:	C3151460
Disease:	CILIARY DYSKINESIA, PRIMARY, 16

CILIARY DYSKINESIA, PRIMARY, 16

0.700

Biomarker

disease

GENOMICS_ENGLAND

CUI:	C3151460
Disease:	CILIARY DYSKINESIA, PRIMARY, 16

CILIARY DYSKINESIA, PRIMARY, 16

0.700

CausalMutation

disease

CLINVAR

CUI:	C3151460
Disease:	CILIARY DYSKINESIA, PRIMARY, 16

CILIARY DYSKINESIA, PRIMARY, 16

0.700

Biomarker

disease

GENOMICS_ENGLAND

CUI:	C3151460
Disease:	CILIARY DYSKINESIA, PRIMARY, 16

CILIARY DYSKINESIA, PRIMARY, 16

0.700

Biomarker

disease

CTD_human