rs724743
×
Entrez Id:
23093
Gene Symbol:
TTLL5
TTLL5
Body Height
A
0.700
GeneticVariation
GWASCAT
Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
21998595
2011
rs72725608
×
Entrez Id:
23093
Gene Symbol:
TTLL5
TTLL5
Carpal Tunnel Syndrome
C
0.700
GeneticVariation
GWASCAT
A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome.
30833571
2019
rs199882533
×
Entrez Id:
23093
Gene Symbol:
TTLL5
TTLL5
CONE-ROD DYSTROPHY 19
T
0.800
CausalMutation
CLINVAR
rs199882533
×
Entrez Id:
23093
Gene Symbol:
TTLL5
TTLL5
CONE-ROD DYSTROPHY 19
0.800
GeneticVariation
UNIPROT
rs199882533
×
Entrez Id:
23093
Gene Symbol:
TTLL5
TTLL5
CONE-ROD DYSTROPHY 19
A
0.800
CausalMutation
CLINVAR
rs1555345387
×
Entrez Id:
23093
Gene Symbol:
TTLL5
TTLL5
CONE-ROD DYSTROPHY 19
CA
0.700
CausalMutation
CLINVAR
rs1555384338
×
Entrez Id:
23093
Gene Symbol:
TTLL5
TTLL5
CONE-ROD DYSTROPHY 19
T
0.700
GeneticVariation
CLINVAR
rs587777469
×
Entrez Id:
23093
Gene Symbol:
TTLL5
TTLL5
CONE-ROD DYSTROPHY 19
T
0.700
CausalMutation
CLINVAR
rs587777470
×
Entrez Id:
23093
Gene Symbol:
TTLL5
TTLL5
CONE-ROD DYSTROPHY 19
C
0.700
CausalMutation
CLINVAR
rs587777471
×
Entrez Id:
23093
Gene Symbol:
TTLL5
TTLL5
CONE-ROD DYSTROPHY 19
A
0.700
CausalMutation
CLINVAR
rs267606822
TTLL5;FLVCR2
Encephaloclastic Proliferative Vasculopathy
0.800
GeneticVariation
UNIPROT
Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).
20206334
2010
rs267606822
TTLL5;FLVCR2
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
rs267606822
TTLL5;FLVCR2
Encephaloclastic Proliferative Vasculopathy
G
0.800
CausalMutation
CLINVAR
rs267606822
TTLL5;FLVCR2
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
rs267606824
TTLL5;FLVCR2
Encephaloclastic Proliferative Vasculopathy
0.800
GeneticVariation
UNIPROT
Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).
20206334
2010
rs267606824
TTLL5;FLVCR2
Encephaloclastic Proliferative Vasculopathy
T
0.800
CausalMutation
CLINVAR
rs267606824
TTLL5;FLVCR2
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
rs267606824
TTLL5;FLVCR2
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
rs267606825
TTLL5;FLVCR2
Encephaloclastic Proliferative Vasculopathy
G
0.800
CausalMutation
CLINVAR
rs267606825
TTLL5;FLVCR2
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
rs267606825
TTLL5;FLVCR2
Encephaloclastic Proliferative Vasculopathy
T
0.800
CausalMutation
CLINVAR
rs267606825
TTLL5;FLVCR2
Encephaloclastic Proliferative Vasculopathy
0.800
GeneticVariation
UNIPROT
Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).
20206334
2010
rs267606825
TTLL5;FLVCR2
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
rs780523767
TTLL5;FLVCR2
Encephaloclastic Proliferative Vasculopathy
C
0.700
CausalMutation
CLINVAR
rs267606825
TTLL5;FLVCR2
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