DisGeNET - a database of gene-disease associations

Juberg-Marsidi syndrome, C0796003

Variant: rs122445109 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs122445109

ATRX

0.700

GeneticVariation

UNIPROT

Asplenia in ATR-X syndrome: a second report.

16222662

2005

dbSNP:

rs122445109

ATRX

0.700

GeneticVariation

UNIPROT

A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation.

15565397

2005

dbSNP:

rs122445109

ATRX

0.700

GeneticVariation

UNIPROT

Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome.

10751095

2000

dbSNP:

rs122445109

ATRX

0.700

GeneticVariation

UNIPROT

Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.

11050622

2000

dbSNP:

rs122445109

ATRX

0.700

GeneticVariation

UNIPROT

Carpenter-Waziri syndrome results from a mutation in XNP.

10398237

1999

dbSNP:

rs122445109

ATRX

0.700

GeneticVariation

UNIPROT

XNP mutation in a large family with Juberg-Marsidi syndrome.

8630485

1996