TMEM106B, transmembrane protein 106B, 54664

N. diseases: 126; N. variants: 13
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693779
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 16
LEUKODYSTROPHY, HYPOMYELINATING, 16 		0.600 GeneticVariation disease CLINVAR The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot. 29444210 2018
CUI: C4693779
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 16
LEUKODYSTROPHY, HYPOMYELINATING, 16 		0.600 GeneticVariation disease UNIPROT The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot. 29444210 2018
CUI: C4693779
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 16
LEUKODYSTROPHY, HYPOMYELINATING, 16 		0.600 Biomarker disease GENOMICS_ENGLAND A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy. 29186371 2017
CUI: C4693779
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 16
LEUKODYSTROPHY, HYPOMYELINATING, 16 		0.600 GeneticVariation disease UNIPROT A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy. 29186371 2017
CUI: C4693779
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 16
LEUKODYSTROPHY, HYPOMYELINATING, 16 		0.600 GeneticVariation disease CLINVAR A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy. 29186371 2017
CUI: C4693779
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 16
LEUKODYSTROPHY, HYPOMYELINATING, 16 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4693779
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 16
LEUKODYSTROPHY, HYPOMYELINATING, 16 		0.600 CausalMutation disease CLINVAR