DisGeNET - a database of gene-disease associations

MUNGAN SYNDROME, C1969653

Variant: rs775266057 ×

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:

rs775266057

rs775266057

RAD21 ; UTP23

T

0.800

CausalMutation

CLINVAR

Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction.

2015

dbSNP:

rs775266057

rs775266057

RAD21 ; UTP23

0.800

GeneticVariation

UNIPROT