DisGeNET - a database of gene-disease associations

Multiple gastrointestinal atresias (disorder), C0220744

Variant: rs777469885 ×

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:

rs777469885

TTC7A

0.700

CausalMutation

CLINVAR

Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.

25534311

2015

dbSNP:

rs777469885

TTC7A

0.700

CausalMutation

CLINVAR

Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.

24417819

2014

dbSNP:

rs777469885

TTC7A

0.700

CausalMutation

CLINVAR

TTC7A mutations disrupt intestinal epithelial apicobasal polarity.

24292712

2014

dbSNP:

rs777469885

TTC7A

0.700

CausalMutation

CLINVAR

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.

23830146

2013