DisGeNET - a database of gene-disease associations

rs1250394819, LOC101927100;TMED7-TICAM2;TMED7

N. diseases: 9

Disease: Agenesis of corpus callosum ×

Source: ALL

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Agenesis of corpus callosum

CUI:	C0175754
Disease:	Agenesis of corpus callosum

0.010

GeneticVariation

BEFREE

In this study, we transfected nondegradable p27 mutant (T187A) and wild-type gene into A</span>CC cell line.

2007