DisGeNET - a database of gene-disease associations

TTC7A, tetratricopeptide repeat domain 7A, 57217

N. diseases: 59; N. variants: 26

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs776906926

Entrez Id:	57217
Gene Symbol:	TTC7A

TTC7A

CUI:	C0220744
Disease:

Multiple gastrointestinal atresias (disorder)

0.800

GeneticVariation

UNIPROT

Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects.

25745186

2015

dbSNP:

rs776906926

Entrez Id:	57217
Gene Symbol:	TTC7A

TTC7A

CUI:	C0220744
Disease:

Multiple gastrointestinal atresias (disorder)

0.800

GeneticVariation

UNIPROT

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

25534311

2015

dbSNP:

rs876657393

Entrez Id:	57217;285051
Gene Symbol:	TTC7A;STPG4

TTC7A;STPG4

CUI:	C0220744
Disease:

Multiple gastrointestinal atresias (disorder)

0.800

GeneticVariation

UNIPROT

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

25534311

2015

dbSNP:

rs876657393

Entrez Id:	57217;285051
Gene Symbol:	TTC7A;STPG4

TTC7A;STPG4

CUI:	C0220744
Disease:

Multiple gastrointestinal atresias (disorder)

0.800

GeneticVariation

UNIPROT

Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects.

25745186

2015

dbSNP:

rs776906926

Entrez Id:	57217
Gene Symbol:	TTC7A

TTC7A

CUI:	C0220744
Disease:

Multiple gastrointestinal atresias (disorder)

0.800

GeneticVariation

UNIPROT

Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.

24931897

2014

dbSNP:

rs776906926

Entrez Id:	57217
Gene Symbol:	TTC7A

TTC7A

CUI:	C0220744
Disease:

Multiple gastrointestinal atresias (disorder)

0.800

GeneticVariation

UNIPROT

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

24417819

2014

dbSNP:

rs776906926

Entrez Id:	57217
Gene Symbol:	TTC7A

TTC7A

CUI:	C0220744
Disease:

Multiple gastrointestinal atresias (disorder)

0.800

GeneticVariation

UNIPROT

Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort.

25546680

2014

dbSNP:

rs776906926

Entrez Id:	57217
Gene Symbol:	TTC7A

TTC7A

CUI:	C0220744
Disease:

Multiple gastrointestinal atresias (disorder)

0.800

GeneticVariation

UNIPROT

TTC7A mutations disrupt intestinal epithelial apicobasal polarity.

24292712

2014

dbSNP:

rs876657393

Entrez Id:	57217;285051
Gene Symbol:	TTC7A;STPG4

TTC7A;STPG4

CUI:	C0220744
Disease:

Multiple gastrointestinal atresias (disorder)

0.800

GeneticVariation

UNIPROT

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

24417819

2014

dbSNP:

rs876657393

Entrez Id:	57217;285051
Gene Symbol:	TTC7A;STPG4

TTC7A;STPG4

CUI:	C0220744
Disease:

Multiple gastrointestinal atresias (disorder)

0.800

GeneticVariation

UNIPROT

TTC7A mutations disrupt intestinal epithelial apicobasal polarity.

24292712

2014

dbSNP:

rs876657393

Entrez Id:	57217;285051
Gene Symbol:	TTC7A;STPG4

TTC7A;STPG4

CUI:	C0220744
Disease:

Multiple gastrointestinal atresias (disorder)

0.800

GeneticVariation

UNIPROT

Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.

24931897

2014

dbSNP:

rs876657393

Entrez Id:	57217;285051
Gene Symbol:	TTC7A;STPG4

TTC7A;STPG4

CUI:	C0220744
Disease:

Multiple gastrointestinal atresias (disorder)

0.800

GeneticVariation

UNIPROT

Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort.

25546680

2014

dbSNP:

rs776906926

Entrez Id:	57217
Gene Symbol:	TTC7A

TTC7A

CUI:	C0220744
Disease:

Multiple gastrointestinal atresias (disorder)

0.800

GeneticVariation

UNIPROT

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

23830146

2013

dbSNP:

rs776906926

Entrez Id:	57217
Gene Symbol:	TTC7A

TTC7A

CUI:	C0220744
Disease:

Multiple gastrointestinal atresias (disorder)

0.800

GeneticVariation

UNIPROT

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.

23423984

2013

dbSNP:

rs876657393

Entrez Id:	57217;285051
Gene Symbol:	TTC7A;STPG4

TTC7A;STPG4

CUI:	C0220744
Disease:

Multiple gastrointestinal atresias (disorder)

0.800

GeneticVariation

UNIPROT

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

23830146

2013

dbSNP:

rs876657393

Entrez Id:	57217;285051
Gene Symbol:	TTC7A;STPG4

TTC7A;STPG4

CUI:	C0220744
Disease:

Multiple gastrointestinal atresias (disorder)

0.800

GeneticVariation

UNIPROT

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.

23423984

2013

dbSNP:

rs10194115

Entrez Id:	57217
Gene Symbol:	TTC7A

TTC7A

CUI:	C0242350
Disease:

Erectile dysfunction

0.800

GeneticVariation

GWASCAT

Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.

20932654

2010

dbSNP:

rs10194115

Entrez Id:	57217
Gene Symbol:	TTC7A

TTC7A

CUI:	C0242350
Disease:

Erectile dysfunction

0.800

GeneticVariation

GWASDB

20932654

2010

dbSNP:

rs587776972

Entrez Id:	57217;285051
Gene Symbol:	TTC7A;STPG4

TTC7A;STPG4

CUI:	C0220744
Disease:

Multiple gastrointestinal atresias (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs587776972

Entrez Id:	57217;285051
Gene Symbol:	TTC7A;STPG4

TTC7A;STPG4

CUI:	C0220744
Disease:

Multiple gastrointestinal atresias (disorder)

0.800

GeneticVariation

UNIPROT

dbSNP:

rs776906926

Entrez Id:	57217
Gene Symbol:	TTC7A

TTC7A

CUI:	C0220744
Disease:

Multiple gastrointestinal atresias (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs876657393

Entrez Id:	57217;285051
Gene Symbol:	TTC7A;STPG4

TTC7A;STPG4

CUI:	C0220744
Disease:

Multiple gastrointestinal atresias (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs13393256

Entrez Id:	57217;285051
Gene Symbol:	TTC7A;STPG4

TTC7A;STPG4

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs1057516047

Entrez Id:	57217;285051
Gene Symbol:	TTC7A;STPG4

TTC7A;STPG4

CUI:	C0220744
Disease:

Multiple gastrointestinal atresias (disorder)

0.700

CausalMutation

CLINVAR

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

26938784

2016

dbSNP:

rs1057516047

Entrez Id:	57217;285051
Gene Symbol:	TTC7A;STPG4

TTC7A;STPG4

CUI:	C0242855
Disease:

Congenital atresia of pulmonary valve

0.700

CausalMutation

CLINVAR

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

26938784

2016