DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: CILIARY DYSKINESIA, PRIMARY, 19 ×

Variant: rs200321595 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs200321595

LRRC6

CUI:	C3543826
Disease:	CILIARY DYSKINESIA, PRIMARY, 19

CILIARY DYSKINESIA, PRIMARY, 19

0.700

CausalMutation

CLINVAR

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

23891469

2013

dbSNP:

rs200321595

LRRC6

CUI:	C3543826
Disease:	CILIARY DYSKINESIA, PRIMARY, 19

CILIARY DYSKINESIA, PRIMARY, 19

0.700

CausalMutation

CLINVAR

LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects.

23527195

2013

dbSNP:

rs200321595

LRRC6

CUI:	C3543826
Disease:	CILIARY DYSKINESIA, PRIMARY, 19

CILIARY DYSKINESIA, PRIMARY, 19

0.700

CausalMutation

CLINVAR

Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.

23122589

2012