MONDO:0005387

Disease Name: primary ovarian failure
Orphanet id: Orphanet:619
All associated enzymes in DAR: NOS3 POLG KDR SIRT6 CYP17A1 ADAMTS1 RAD54L ADAMTS6 PMM2

MONDO:0019791

Disease Name: recessive mitochondrial ataxia syndrome
Orphanet id: Orphanet:94125
All associated enzymes in DAR: POLG

MONDO:0009723

Disease Name: Leigh syndrome
OMIM id: OMIM:256000
Orphanet id: Orphanet:506
All associated enzymes in DAR: POLG . The disease is also associated to other non-enzyme proteins (not in DAR).

MONDO:0016809

Disease Name: spinocerebellar ataxia with epilepsy
OMIM id: OMIM:607459
Orphanet id: Orphanet:254881
All associated enzymes in DAR: POLG

MONDO:0013350

Disease Name: mitochondrial DNA depletion syndrome 4b
OMIM id: OMIM:613662
Orphanet id: Orphanet:298
All associated enzymes in DAR: POLG . The disease is also associated to other non-enzyme proteins (not in DAR).

MONDO:0017575

Disease Name: mitochondrial neurogastrointestinal encephalomyopathy
OMIM id: OMIM:613662
Orphanet id: Orphanet:298
All associated enzymes in DAR: POLG RRM2B TYMP

MONDO:0011283

Disease Name: mitochondrial DNA depletion syndrome 1
OMIM id: OMIM:603041
Orphanet id: Orphanet:298
All associated enzymes in DAR: POLG TYMP

MONDO:0001071

Disease Name: intellectual disability
Orphanet id: Orphanet:319658
All associated enzymes in DAR: CYP2U1 DHX16 CBS POLG UFSP2 P4HTM PDIA3 DHX30 TET3 ALG3 NAGLU CHD3 SMPD1 DHX34 GCH1 CARNMT1 CYP27A1 ABCD1 CHD2 DDX54 INO80 PTPN4 DHX37

MONDO:0008758

Disease Name: mitochondrial DNA depletion syndrome 4a
OMIM id: OMIM:203700
Orphanet id: Orphanet:726
All associated enzymes in DAR: POLG . The disease is also associated to other non-enzyme proteins (not in DAR).

MONDO:0009783

Disease Name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
OMIM id: OMIM:258450
Orphanet id: Orphanet:254886
All associated enzymes in DAR: POLG

MONDO:0024528

Disease Name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
OMIM id: OMIM:157640
Orphanet id: Orphanet:254892
All associated enzymes in DAR: TWNK POLG