DisGeNET - a database of gene-disease associations

Opitz GBBB Syndrome, X-Linked, C2936904

Variant: rs28934611 ×

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:

rs28934611

MID1

0.800

GeneticVariation

UNIPROT

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.

15558842

2005

dbSNP:

rs28934611

MID1

0.800

GeneticVariation

UNIPROT

New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome.

11030761

2000

dbSNP:

rs28934611

MID1

0.800

GeneticVariation

UNIPROT

Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.

9718340

1998

dbSNP:

rs28934611

MID1

0.800

GeneticVariation

UNIPROT

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.

9354791

1997

dbSNP:

rs28934611

MID1

0.800

CausalMutation

CLINVAR