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Mitochondrial complex v (atp synthase) deficiency, nuclear type
Mitochondrial complex v (atp synthase) deficiency, nuclear type
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Subtype of:
Mitochondrial complex deficiency
Include the contents of this disease's 2 subtypes
in the table below
Show the subtypes
Mitochondrial complex v (atp synthase) deficiency, nuclear type 1
Mitochondrial complex v (atp synthase) deficiency, nuclear type 2
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
mitochondrial complex V (ATP synthase) deficiency, nuclear
MONDO_0013546
TMEM70
Unknown
18953340
21147908
27604308
Open Targets
—
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
MONDO_0014471
ATPAF2
Unknown
27604308
19933271
14757859
Open Targets
—
All
2
Causal
0
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
2
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Mitochondrial encephalocardiomyopathy
1 shared gene
TMEM70
Related via 1 shared gene including TMEM70.
Oligohydramnios
1 shared gene
TMEM70
Related via 1 shared gene including TMEM70.
Mitochondrial complex v (atp synthase) deficiency, nuclear type 2
1 shared gene
TMEM70
Related via 1 shared gene including TMEM70.
Mitochondrial complex v (atp synthase) deficiency, nuclear type 1
1 shared gene
ATPAF2
Related via 1 shared gene including ATPAF2.
Intrauterine growth restriction
1 shared gene
TMEM70
Related via 1 shared gene including TMEM70.
1
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