DisGeNET - a database of gene-disease associations

Opitz-G syndrome, type 2, C1801950

Variant: rs775422871 ×

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:

rs775422871

rs775422871

MID1

0.010

GeneticVariation

BEFREE

Here, we present a patient with Opitz G/BBB syndrome and a unique MID1 gene point mutation c.1703T<C (p. Ile568Thr) in exon 10.

2012