DisGeNET - a database of gene-disease associations

Transcobalamin II deficiency, C0342701

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:

rs778381859

rs778381859

TCN2

G

0.700

GeneticVariation

CLINVAR

Update on transcobalamin deficiency: clinical presentation, treatment and outcome.

2014

dbSNP:

rs778381859

rs778381859

TCN2

G

0.700

GeneticVariation

CLINVAR

Should transcobalamin deficiency be treated aggressively?

2010

dbSNP:

rs1157135425

rs1157135425

TCN2

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs1555895066

rs1555895066

TCN2

CT

0.700

CausalMutation

CLINVAR

dbSNP:

rs372866837

rs372866837

TCN2

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs606231119

rs606231119

TCN2

G

0.700

CausalMutation

CLINVAR

dbSNP:

rs778381859

rs778381859

TCN2

G

0.700

CausalMutation

CLINVAR