TTLL5, tubulin tyrosine ligase like 5, 23093

N. diseases: 34; N. variants: 24
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606825
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
dbSNP: rs72725608
rs72725608
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
CUI: C0007286
Disease:
Carpal Tunnel Syndrome 		C 0.700 GeneticVariation GWASCAT A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome. 30833571 2019
dbSNP: rs11159152
rs11159152
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs17103681
rs17103681
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs17183738
rs17183738
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs175886
rs175886
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs175888
rs175888
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs17783198
rs17783198
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs17783198
rs17783198
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs1863036
rs1863036
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2359866
rs2359866
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs7145487
rs7145487
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs8015701
rs8015701
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs8017398
rs8017398
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs724743
rs724743
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
CUI: C0005890
Disease:
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
dbSNP: rs724743
rs724743
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
CUI: C0489786
Disease:
Height 		A 0.700 GeneticVariation GWASDB Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. 21998595 2011
dbSNP: rs1555345387
rs1555345387
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
CUI: C4014501
Disease:
CONE-ROD DYSTROPHY 19 		CA 0.700 CausalMutation CLINVAR
dbSNP: rs1555384338
rs1555384338
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
CUI: C4014501
Disease:
CONE-ROD DYSTROPHY 19 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1566585766
rs1566585766
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
CUI: C0035334
Disease:
Retinitis Pigmentosa 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587777469
rs587777469
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
CUI: C4014501
Disease:
CONE-ROD DYSTROPHY 19 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587777470
rs587777470
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
CUI: C4014501
Disease:
CONE-ROD DYSTROPHY 19 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587777471
rs587777471
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
CUI: C4014501
Disease:
CONE-ROD DYSTROPHY 19 		A 0.700 CausalMutation CLINVAR
dbSNP: rs780523767
rs780523767
Entrez Id: 23093;55640
Gene Symbol: TTLL5;FLVCR2
TTLL5;FLVCR2
CUI: C1856972
Disease:
Encephaloclastic Proliferative Vasculopathy 		C 0.700 CausalMutation CLINVAR
dbSNP: rs267606822
rs267606822
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: rs267606822
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