DisGeNET - a database of gene-disease associations

Microlissencephaly, C1956147

Variant: rs370455806 ×

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:

rs370455806

rs370455806

TMX2 ; TMX2-CTNND1

0.010

GeneticVariation

BEFREE

The <i>TMX2</i> c.500G>A allele associates with recessive microlissencephaly, and patients show no evidence of <i>C9ORF72</i> expansions.

2020