Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356560
rs80356560
TIMM8A
0.800 GeneticVariation UNIPROT Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex. 11875042

2002
dbSNP: rs80356560
rs80356560
TIMM8A
0.800 GeneticVariation UNIPROT Thus, an assembly defect of DDP1 is the molecular basis of Mohr-Tranebjaerg syndrome in patients carrying the C66W mutation. 11956200

2002
dbSNP: rs80356560
rs80356560
TIMM8A
0.800 GeneticVariation UNIPROT Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene. 11803487

2001
dbSNP: rs80356560
rs80356560
TIMM8A
0.800 GeneticVariation UNIPROT A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome. 10878669

2000
dbSNP: rs80356560
rs80356560
TIMM8A
C 0.800 CausalMutation CLINVAR