DisGeNET - a database of gene-disease associations

AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, C2751492

Gene: TTR ×

Source: INFERRED ×

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:

rs267607161

TTR

0.870

CausalMutation

CLINVAR

Direct tissue evaluation via immunofluorescence: in the diagnosis of hereditary transthyretin cardiac amyloidosis.

22412233

2012

dbSNP:

rs267607161

TTR

0.870

CausalMutation

CLINVAR

Our study included 8 cases of acquired monoclonal immunoglobulin light chain amyloidosis, 11 cases of transthyretin amyloidosis (3 with the Val30Met mutation, 2 with the Val32Ala mutation, 2 with the Thr60Ala mutation, 1 with the Ala109Ser mutation, 1 with the Phe64Leu mutation, 1 with the Ala97Ser mutation, and 1 not sequenced), and 2 cases of gelsolin amyloidosis (1 with the Asp187Asn mutation and 1 not sequenced).

20937937

2011

dbSNP:

rs267607161

TTR

0.870

CausalMutation

CLINVAR

This study investigated skin innervation and its clinical significance in genetically defined FAP due to a hot-spot Ala97Ser TTR mutation (Ala97Ser).

20697105

2010

dbSNP:

rs267607161

TTR

0.870

CausalMutation

CLINVAR

Pathology and functional diagnosis of small-fiber painful neuropathy.

20714957

2010

dbSNP:

rs267607161

TTR

0.870

CausalMutation

CLINVAR

Liver transplantation and combined liver-heart transplantation in patients with familial amyloid polyneuropathy: a single-center experience.

20209591

2010

dbSNP:

rs267607161

TTR

0.870

CausalMutation

CLINVAR

These five FAP patients shared an identical missense mutation, Ala97Ser, in the TTR gene.

18022643

2008

dbSNP:

rs267607161

TTR

0.870

CausalMutation

CLINVAR

The hereditary amyloidoses.

15123043

2003

dbSNP:

rs267607161

TTR

0.870

CausalMutation

CLINVAR

Tabulation of human transthyretin (TTR) variants, 2003.

14640030

2003

dbSNP:

rs267607161

TTR

0.870

CausalMutation

CLINVAR

Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy.

14986482

2003

dbSNP:

rs267607161

TTR

0.870

CausalMutation

CLINVAR

Transthyretin mutations in hyperthyroxinemia and amyloid diseases.

11385707

2001

dbSNP:

rs267607161

TTR

0.870

CausalMutation

CLINVAR

ATTR Phe33Val was found in a Chinese FAP patient and ATTR Ala97Ser in a Taiwanese.

10611950

1999

dbSNP:

rs267607161

TTR

0.870

CausalMutation

CLINVAR

Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: a Japanese kindred with novel mutant transthyretin (Ala97 to Gly).

8133316

1994

dbSNP:

rs76992529

TTR

0.860

CausalMutation

CLINVAR

Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness.

26537620

2016

dbSNP:

rs76992529

TTR

0.860

CausalMutation

CLINVAR

The Val142Ile transthyretin cardiac amyloidosis: not only an Afro-American pathogenic variant? A single-centre Italian experience.

26428663

2016

dbSNP:

rs76992529

TTR

0.860

CausalMutation

CLINVAR

The amyloidogenic V122I transthyretin variant in elderly black Americans.

25551524

2015

dbSNP:

rs76992529

TTR

0.860

CausalMutation

CLINVAR

The Val142Ile transthyretin cardiac amyloidosis: more than an Afro-American pathogenic variant.

25846356

2015

dbSNP:

rs76992529

TTR

0.860

CausalMutation

CLINVAR

Prevalence of the amyloidogenic transthyretin (TTR) V122I allele in 14 333 African-Americans.

26123279

2015

dbSNP:

rs76992529

TTR

0.860

CausalMutation

CLINVAR

Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy.

25819286

2015

dbSNP:

rs76992529

TTR

0.860

CausalMutation

CLINVAR

Proteolytic cleavage of Ser52Pro variant transthyretin triggers its amyloid fibrillogenesis.

24474780

2014

dbSNP:

rs76992529

TTR

0.860

CausalMutation

CLINVAR

An Afro-Caribbean patient with a thick heart.

24633258

2014

dbSNP:

rs76992529

TTR

0.860

CausalMutation

CLINVAR

Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life.

24184229

2014

dbSNP:

rs76992529

TTR

0.860

CausalMutation

CLINVAR

Comparison of cardiac amyloidosis due to wild-type and V122I transthyretin in older adults referred to an academic medical center.

24073013

2013

dbSNP:

rs76992529

TTR

0.860

CausalMutation

CLINVAR

Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective.

22745357

2013

dbSNP:

rs76992529

TTR

0.860

CausalMutation

CLINVAR

Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: the Transthyretin Amyloidosis Cardiac Study (TRACS).

22877808

2012

dbSNP:

rs76992529

TTR

0.860

CausalMutation

CLINVAR

Significance of the amyloidogenic transthyretin Val 122 Ile allele in African Americans in the Arteriosclerosis Risk in Communities (ARIC) and Cardiovascular Health (CHS) Studies.

20435197

2010