DisGeNET - a database of gene-disease associations

Short Stature, CTCAE, C2919142

Gene: RSPH4A ×

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

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	345895
Gene Symbol:	RSPH4A

RSPH4A

0.400

Biomarker

phenotype

GENOMICS_ENGLAND

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.

2015

Entrez Id:	345895
Gene Symbol:	RSPH4A

RSPH4A

0.400

Biomarker

phenotype

HPO

Entrez Id:	345895
Gene Symbol:	RSPH4A

RSPH4A

0.400

Biomarker

phenotype

GENOMICS_ENGLAND