TUBB4A, tubulin beta 4A class IVa, 10382

N. diseases: 107; N. variants: 29
Disease: Leukodystrophy, Hypomyelinating, 6 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767399782
rs767399782
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6 		T 0.700 CausalMutation CLINVAR TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes. 28973395 2017
dbSNP: rs767399782
rs767399782
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6 		T 0.700 CausalMutation CLINVAR TUBB4A de novo mutations cause isolated hypomyelination. 25085639 2014
dbSNP: rs767399782
rs767399782
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C2676244
Disease:
Leukodystrophy, Hypomyelinating, 6 		T 0.700 GeneticVariation CLINVAR