DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Oto-Palato-digital syndrome type 1 ×

Variant: rs28935469 ×

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:

rs28935469

FLNA

CUI:	C0265251
Disease:	Oto-Palato-digital syndrome type 1

Oto-Palato-digital syndrome type 1

0.800

GeneticVariation

UNIPROT

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.

27193221

2016

dbSNP:

rs28935469

FLNA

CUI:	C0265251
Disease:	Oto-Palato-digital syndrome type 1

Oto-Palato-digital syndrome type 1

0.800

GeneticVariation

UNIPROT

A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation.

15940695

2005

dbSNP:

rs28935469

FLNA

CUI:	C0265251
Disease:	Oto-Palato-digital syndrome type 1

Oto-Palato-digital syndrome type 1

0.800

GeneticVariation

UNIPROT

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

12612583

2003

dbSNP:

rs28935469

FLNA

CUI:	C0265251
Disease:	Oto-Palato-digital syndrome type 1

Oto-Palato-digital syndrome type 1

0.800

CausalMutation

CLINVAR