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: rs199882533
rs199882533
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
CUI: C4014501
Disease:
CONE-ROD DYSTROPHY 19 		T 0.800 CausalMutation CLINVAR
dbSNP: rs199882533
rs199882533
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
CUI: C4014501
Disease:
CONE-ROD DYSTROPHY 19 		0.800 GeneticVariation UNIPROT
dbSNP: rs199882533
rs199882533
Entrez Id: 23093
Gene Symbol: TTLL5
TTLL5
CUI: C4014501
Disease:
CONE-ROD DYSTROPHY 19 		A 0.800 CausalMutation CLINVAR
dbSNP: rs267606822
rs267606822
Entrez Id: 23093;55640
Gene Symbol: TTLL5;FLVCR2
TTLL5;FLVCR2
CUI: C1856972
Disease:
Encephaloclastic Proliferative Vasculopathy 		G 0.800 CausalMutation CLINVAR
dbSNP: rs267606824
rs267606824
Entrez Id: 23093;55640
Gene Symbol: TTLL5;FLVCR2
TTLL5;FLVCR2
CUI: C1856972
Disease:
Encephaloclastic Proliferative Vasculopathy 		T 0.800 CausalMutation CLINVAR
dbSNP: rs267606825
rs267606825
Entrez Id: 23093;55640
Gene Symbol: TTLL5;FLVCR2
TTLL5;FLVCR2
CUI: C1856972
Disease:
Encephaloclastic Proliferative Vasculopathy 		G 0.800 CausalMutation CLINVAR
dbSNP: rs267606825
rs267606825
Entrez Id: 23093;55640
Gene Symbol: TTLL5;FLVCR2
TTLL5;FLVCR2
CUI: C1856972
Disease:
Encephaloclastic Proliferative Vasculopathy 		T 0.800 CausalMutation CLINVAR
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
dbSNP: rs267606822
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
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
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
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
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
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
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: 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