TTLL5, tubulin tyrosine ligase like 5, 23093

N. diseases: 34; N. variants: 24
Disease: Encephaloclastic Proliferative Vasculopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs267606824
rs267606824
Entrez Id: 23093;55640
Gene Symbol: TTLL5;FLVCR2
TTLL5;FLVCR2
CUI: C1856972
Disease:
Encephaloclastic Proliferative Vasculopathy 		T 0.800 CausalMutation CLINVAR