DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Ciliary Motility Disorders ×

Variant: rs62638634 ×

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:

rs62638634

RPGR

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.700

CausalMutation

CLINVAR

X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.

10937588

2000

dbSNP:

rs62638634

RPGR

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.700

CausalMutation

CLINVAR

X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.

9855162

1998

dbSNP:

rs62638634

RPGR

CUI:	C0008780
Disease:	Ciliary Motility Disorders

Ciliary Motility Disorders

0.700

CausalMutation

CLINVAR

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.

9399904

1997