DisGeNET - a database of gene-disease associations

TTLL5, tubulin tyrosine ligase like 5, 23093

N. diseases: 34; N. variants: 24

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:

rs267606822

Entrez Id:	23093;55640
Gene Symbol:	TTLL5;FLVCR2

TTLL5;FLVCR2

CUI:	C1856972
Disease:

Encephaloclastic Proliferative Vasculopathy

0.800

GeneticVariation

UNIPROT

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.

20690116

2010

dbSNP:

rs267606822

Entrez Id:	23093;55640
Gene Symbol:	TTLL5;FLVCR2

TTLL5;FLVCR2

CUI:	C1856972
Disease:

Encephaloclastic Proliferative Vasculopathy

0.800

CausalMutation

CLINVAR

dbSNP:

rs267606822

Entrez Id:	23093;55640
Gene Symbol:	TTLL5;FLVCR2

TTLL5;FLVCR2

CUI:	C1856972
Disease:

Encephaloclastic Proliferative Vasculopathy

0.800

GeneticVariation

UNIPROT

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.

20518025

2010

dbSNP:

rs267606824

Entrez Id:	23093;55640
Gene Symbol:	TTLL5;FLVCR2

TTLL5;FLVCR2

CUI:	C1856972
Disease:

Encephaloclastic Proliferative Vasculopathy

0.800

GeneticVariation

UNIPROT

Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).

20206334

2010

dbSNP:

rs267606824

Entrez Id:	23093;55640
Gene Symbol:	TTLL5;FLVCR2

TTLL5;FLVCR2

CUI:	C1856972
Disease:

Encephaloclastic Proliferative Vasculopathy

0.800

CausalMutation

CLINVAR

dbSNP:

rs267606824

Entrez Id:	23093;55640
Gene Symbol:	TTLL5;FLVCR2

TTLL5;FLVCR2

CUI:	C1856972
Disease:

Encephaloclastic Proliferative Vasculopathy

0.800

GeneticVariation

UNIPROT

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.

20690116

2010

dbSNP:

rs267606824

Entrez Id:	23093;55640
Gene Symbol:	TTLL5;FLVCR2

TTLL5;FLVCR2

CUI:	C1856972
Disease:

Encephaloclastic Proliferative Vasculopathy

0.800

GeneticVariation

UNIPROT

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.

20518025

2010

dbSNP:

rs267606825

Entrez Id:	23093;55640
Gene Symbol:	TTLL5;FLVCR2

TTLL5;FLVCR2

CUI:	C1856972
Disease:

Encephaloclastic Proliferative Vasculopathy

0.800

CausalMutation

CLINVAR

dbSNP:

rs267606825

Entrez Id:	23093;55640
Gene Symbol:	TTLL5;FLVCR2

TTLL5;FLVCR2

CUI:	C1856972
Disease:

Encephaloclastic Proliferative Vasculopathy

0.800

GeneticVariation

UNIPROT

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.

20690116

2010

dbSNP:

rs267606825

Entrez Id:	23093;55640
Gene Symbol:	TTLL5;FLVCR2

TTLL5;FLVCR2

CUI:	C1856972
Disease:

Encephaloclastic Proliferative Vasculopathy

0.800

CausalMutation

CLINVAR

dbSNP:

rs267606825

Entrez Id:	23093;55640
Gene Symbol:	TTLL5;FLVCR2

TTLL5;FLVCR2

CUI:	C1856972
Disease:

Encephaloclastic Proliferative Vasculopathy

0.800

GeneticVariation

UNIPROT

Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).

20206334

2010

dbSNP:

rs267606825

Entrez Id:	23093;55640
Gene Symbol:	TTLL5;FLVCR2

TTLL5;FLVCR2

CUI:	C1856972
Disease:

Encephaloclastic Proliferative Vasculopathy

0.800

GeneticVariation

UNIPROT

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.

20518025

2010

dbSNP:

rs780523767

Entrez Id:	23093;55640
Gene Symbol:	TTLL5;FLVCR2

TTLL5;FLVCR2

CUI:	C1856972
Disease:

Encephaloclastic Proliferative Vasculopathy

0.700

CausalMutation

CLINVAR

dbSNP:

rs267606825

Entrez Id:	23093;55640
Gene Symbol:	TTLL5;FLVCR2

TTLL5;FLVCR2

CUI:	C3203738
Disease:

Fowler syndrome

0.010

GeneticVariation

BEFREE

Investigation with whole-exome sequencing (WES) revealed, in both patients, a homozygous pathogenic mutation in FLVCR2, c.1289C>T, compatible with a diagnosis of Fowler syndrome.

25677735

2016