rs587777468, TUBB4A

N. diseases: 1
Disease: Leukodystrophy, Hypomyelinating, 6 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Leukodystrophy, Hypomyelinating, 6
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
0.700 CausalMutation CLINVAR TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients. 26643067 2016
Leukodystrophy, Hypomyelinating, 6
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies. 24850488 2014