DisGeNET - a database of gene-disease associations

RSPH1, radial spoke head component 1, 89765

N. diseases: 47; N. variants: 14

Disease: CILIARY DYSKINESIA, PRIMARY, 24 ×

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:	C3809634
Disease:	CILIARY DYSKINESIA, PRIMARY, 24

CILIARY DYSKINESIA, PRIMARY, 24

0.700

GeneticVariation

disease

UNIPROT

Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.

25186273

2014

CUI:	C3809634
Disease:	CILIARY DYSKINESIA, PRIMARY, 24

CILIARY DYSKINESIA, PRIMARY, 24

0.700

GeneticVariation

disease

UNIPROT

Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.

23993197

2013

CUI:	C3809634
Disease:	CILIARY DYSKINESIA, PRIMARY, 24

CILIARY DYSKINESIA, PRIMARY, 24

0.700

Biomarker

disease

CTD_human

CUI:	C3809634
Disease:	CILIARY DYSKINESIA, PRIMARY, 24

CILIARY DYSKINESIA, PRIMARY, 24

0.700

Biomarker

disease

GENOMICS_ENGLAND

CUI:	C3809634
Disease:	CILIARY DYSKINESIA, PRIMARY, 24

CILIARY DYSKINESIA, PRIMARY, 24

0.700

CausalMutation

disease

CLINVAR

CUI:	C3809634
Disease:	CILIARY DYSKINESIA, PRIMARY, 24

CILIARY DYSKINESIA, PRIMARY, 24

0.700

Biomarker

disease

GENOMICS_ENGLAND

CUI:	C3809634
Disease:	CILIARY DYSKINESIA, PRIMARY, 24

CILIARY DYSKINESIA, PRIMARY, 24

0.700

Biomarker

disease

GENOMICS_ENGLAND