Leigh syndrome

Disease Term Disease ID Gene Symbol Classification References Source
LEIGH SYNDROME
MONDO:0009723
COX10 Unknown
12928484 14607829 15455402 17715058 2167310 24100867 25613900
ClinGen GWAS catalog
COX4I1 Unknown
18853439 28593021 31127358 31290619
ClinGen GWAS catalog
COX8A Unknown
25613900 26685157 27977873
ClinGen GWAS catalog
COXFA4 Unknown
23746447 25613900 27977873
HPO
DLAT Unknown
15070761 16049940 20022530 25613900 27977873 30407599
ClinGen Disgenet
DLD Unknown
11687750 12925875 16770810 21930696 23290025 25613900 27144126 8506365 8968745 9405644
ClinGen GWAS catalog
DNM1L Unknown
18853439 27301544 30361041
ClinGen ClinVar
EARS2 Unknown
22492562 27117034 27206875 27571996 29980628
ClinGen Disgenet
ETHE1 Unknown
16376514 18593870 19136963 20528888 20978941 25613900 25878756 26917598 27830356 28753212
CTD ClinGen
GFM1 Unknown
17160893 18853439 21364917 23430926 25852744 27977873
ClinGen GWAS catalog
GFM2 Unknown
19716793 22700954 26016410 29075935
ClinGen Disgenet
GTPBP3 Unknown
25434004 27184967 28732077 29390138 30459337 30916346
ClinGen GWAS catalog
HIBCH Unknown
17160907 24299452 25251209 25591832 25613900 26163321 27400804 27977873 31127358 31523596 32022391 32677093
ClinGen GWAS catalog
HPDL Unknown
18853439 32707086 33188300 33970200
ClinGen Orphanet
KGD4 Unknown — GenCC
LIAS Unknown
11389890 16135825 24334290 25613900 26108146 28817111
ClinGen Orphanet
LIPT1 Unknown
24256811 24341803 25613900 27977873 28803783 29681092 31042466
ClinGen
LONP1 Unknown
18853439 29518248 32521756
ClinGen GWAS catalog
LRPPRC Unknown
12529507 18853439 21266382 22045337 25428350 25835550 26510951 27977873
ClinGen GWAS catalog
MECR Unknown
25613900 27817865 27977873 30266742
ClinGen Disgenet
MFF Unknown
25613900 26783368 27977873 30581454 32181496
ClinGen Disgenet
MORC2 Unknown
25613900 30624633
ClinGen GWAS catalog
MTRFR Unknown
18853439 20598281 22821833 24284555 25995486 26380172 27858754 27977873
ClinGen Disgenet
NARS2 Unknown
25807530 29980628
ClinGen Disgenet
NAXE Unknown
25613900 27616477 32020600
ClinGen Orphanet
NDUFA1 Unknown
10200266 14722084 15293270 17262856 25356405 25356970 28429146 28506826 29506883 8938439
CTD ClinGen
NDUFA10 Unknown
21150889 22200994 27509854 27626371 28247337
CTD ClinGen
NDUFA12 Unknown
21617257 24717771 27509854
ClinGen GWAS catalog
NDUFA13 Unknown
15367666 25901006 27509854 32722639
ClinGen ClinVar
NDUFA2 Unknown
17209039 18513682 18826940 21556144 22822087 27159321 27626371 28857146 9878551
ClinGen Disgenet
NDUFA3 Unknown — GenCC
NDUFA4 Unknown — ClinGen
NDUFA9 Unknown
22114105 23223238 25613900 27509854 28671271
ClinGen Disgenet
NDUFAF4 Unknown
18179882 23670274 25613900 28853723
ClinGen GWAS catalog
NDUFAF8 Unknown
27499296 31866046
ClinGen GWAS catalog
NDUFB8 Unknown
27509854 27626371 29429571 31127358
ClinGen GWAS catalog
NDUFC2 Unknown
27509854 27626371 32969598
ClinGen GenCC
NDUFS2 Unknown
11220739 14749350 20819849 22036843 23266820 25613900 27509854 29526616 31297047
ClinGen GenCC
NDUFS3 Unknown
14729820 17267560 18485875 18826940 22200994 22653752 23519235 28683319 30140060 9878551
ClinVar
NDUFV2 Unknown
26008862 27509854
CTD ClinGen
NUBPL Unknown
19752196 20818383 22826544 23553477 25613900 29982452 30897263 31917109
ClinGen Orphanet
NUP62 Unknown — ClinGen
OPA1 Unknown
17428816 18853439 28442211 28494813 33092941
ClinGen GWAS catalog
PDHA1 Unknown
19924563 20002461 21914562 23840713 28918066 8498846 8664900 9187674
ClinGen GWAS catalog
PDHB Unknown
19924563 21914562 25356417 25613900 27977873 29501567 31127358
ClinGen GWAS catalog
PDHX Unknown
12557299 14518830 15303005 16566017 21139605 25087164 27977873
ClinGen Disgenet
PDSS2 Unknown
10972372 17186472 18437205 21139605 21983691 23150520 27977873 29967258
ClinGen Disgenet