Optic atrophy

Disease Term Disease ID Gene Symbol References
Optic Atrophy C0029124 AARS1
ABCA4
ACO2
ACOX1
ADAR
AGXT
AHR
AMPD2
ARL3
ARSA
ARVCF
ASPA
ATIC
RERE
ATP1A3
ATP6V1A
ATRX
KIF1A
AUH
BBS2
BCS1L
BRAF
BTD
CFAP410
CA2
CA4
CACNA1A
CACNA1B
CACNA1C
CASR
CBS
CDC42
ERCC8
CLCN7
CLN3
CLTC
CNGB1
CNGA1
COL4A1
COMT
COX6B1
COX8A
COX10
COX15
CRX
VCAN
CTNNB1
DAG1
DDB2
TIMM8A
DGUOK
DHCR7
DIAPH1
DKC1
SARDH
DNM1
DNMT1
DPYD
ECHS1
EEF1A2
EIF2B1
EPRS1
ERCC1
ERCC2
ERCC3
ERCC4
ERCC5
ERCC6
ERF
FKTN
FDXR
FGF12
FGFR3
FGFR2
FH
FXN
FTL
GABRB2
GABRD
GABRG2
GALC
GJA1
GLA
GLB1
GNA11
GNAQ
GNAS
GP1BB
GRN
GRIN2D
GUCA1B
HSD17B10
IDH3A
IDH3B
IMPDH1
KCNA2
KCNB1
KCNC3
KIF11
KRAS
LETM1
LRP4
LRP5
MAG
MAK
MGP
MIPEP
ATP6
COX1
COX2
COX3
CYTB
ND1
ND2
ND3
ND4
ND4L
ND5
ND6
RNR1
TRNF
TRNH
TRNK
TRNL1
TRNN
TRNP
TRNQ
TRNS1
TRNS2
TRNV
TRNW
MMUT
MYO5A
NAGA
NDP
NDUFA2
NDUFA4
NDUFA9
NDUFA10
NDUFB8
NDUFS1
NDUFS2
NDUFS3 14729820
NDUFV1
NDUFS4
NDUFS8
NDUFV2
NEK2
NFIX
NRL
NTRK2
OAT
OPA1
TNFRSF11B
PAX6
PCK1
PDE6A
PDE6G
PDE6B
PDHA1
PEX1
PEX6
PEX10
PEX12
PEX13
PEX14
PIK3CA
PLP1
POLG
POU3F4
PPP3CA
PPT1
PRKAR1A
MAP2K1
MAP2K2
PRPS1
PSAP
PEX19
PEX2
PEX5
RBP3
PRPH2
RFC1
RGR
RHO
RLBP1
ROM1
RP9
RP1
RP2
RPGR
RPE65
RPS6KA3
RREB1
SAG
ATXN1
ATXN7
SCN3A
SCN8A
SCO1
SDHA
SDHD
SH3BP2
SKI
SLC1A2
SLC6A9
SON
SOX5
SPG7
STXBP1
SURF1
TBX1
TBCD 27666370
TBCE
NR2F1
TGFB1
TK2
TSC1
TSC2
TUB
TULP1
HIRA
TWIST1
UCHL1
UFD1
USH2A
CLRN1
BEST1
WFS1
NSD2
NELFA
WNT3
XPA
XPC
YWHAG
MOGS
SLBP 30695021
KAT6A
PDHX
AAAS
IFT88
AP3B2
RBM10
PLA2G6
OFD1
PEX3
CNTNAP1 27668699
KCNAB2
IKBKG
ELP1
CASK
TNFSF11
GPAA1
TNFRSF11A
PEX11B
DPM1
DPM2
SYNGAP1
PROM1
SYNJ1
ST3GAL5
EIF2B4
EIF2B3
EIF2B2
EIF2B5
PIGQ 31148362
PRPF4
PRPF3
LARGE1
LRAT
RAB11B
ZNHIT3
SNAP29
PLAA
RECQL4
PEX16
CYP7B1
MPDU1
SEC24C
ZNF592
SEMA3E
IFT140
FRMPD4
DHX38
WASHC5
MFN2 21715711
SCO2
NR2E3
DNM1L 17460227
HUWE1
TSFM
BCAP31
ALG3
TOPORS
TCIRG1
RXYLT1
TFG
WARS2
MICU1
TUBB4A
YAP1
MERTK
SLC19A2
POMT1
PRPF8
STAMBP
EBP
YME1L1
PLK4
WDR4
PNPLA6
AFG3L2
CLP1
B4GAT1
POLR3A
WDR45
CHSY1
CNKSR2
FASTKD2
TRAK1
RAB3GAP1
RAB18
RPIA
NT5C2
SNRNP200
EMC1
POGZ
PMPCA
RPGRIP1L
SZT2
ARHGEF18
CRB1
SLC39A14
ARL2BP
PDSS1
NUP62
FLRT1
PRPF6
RAB3GAP2
FSCN2
TXN2
NIPBL
NDUFAF3
PARS2
NECAP1
ABHD12 24697911, 29571850
PRPF31
IFT172
PTPN22
CNNM4
CYFIP2
B9D1
TUBGCP4
PCLO
CCDC22
OSTM1
FLVCR1
NDUFAF4
SNX10
GMPPB
GMPPA
POMT2
SCAPER
IMPG2
SOST
WDPCP
NDUFA13
MECR
TRAPPC12
TACO1
GLRX5
TBC1D7
TMEM216
ACTL6B
NBAS
LIPT1
RAB23
WWOX
INPP5K
ADAM22
RNF216
GTPBP2
P4HTM
AHI1
MKS1
MTPAP
DARS2
CEP55
ATAD3A 27640307
SLC29A3
FOXRED1
POMGNT1
CHD7
PEX26
CCDC88A
NGLY1
SPATA7
VPS11
KIZ
NDUFA12
KLHL7
TWNK 27551684
MFF
RPGRIP1
GJC2
MCOLN1
SCYL1
TBC1D24
CC2D2A
KIAA1549
SLC7A14
EPG5
SLC25A19
AGBL5
TRAPPC11
PIEZO2
PRDM16
SMOC1
SEMA4A
SIL1
ARV1
NMNAT1 22842229
KLC2
PORCN
VPS33A
MRPS34
NDUFAF5
FKRP
FA2H
SLC52A2
TMEM231
SRD5A3
NARS2
ZNF408
CSPP1
TCTN2
ALG13
UBA5
L2HGDH
DHDDS
PANK2
CTC1
CEP290
OPA3
SLC19A3
B9D2
C19orf12
ARL6
FAM161A
ANTXR1
POMK
TMEM126A
TMEM107
COA8
POMGNT2
WDR73
SERAC1
COX14
TUBGCP6
UBE3B
SLC25A46 26168012
TMEM67
MTRFR
NDUFAF2
CDHR1
TIMM50
REEP6
TOE1
NLRP3
NUS1
COX20
ISCA2
TTC8
MTFMT
MICOS13
NDUFA11
TBC1D20
ZNF513
DNAJC19
NDUFAF6
HGSNAT
B3GLCT
RDH12
B3GALNT2
CKAP2L
KCTD7
CFAP418
VPS13B
TMTC3
ARX
FCSK
IBA57
STT3B
JMJD1C
MFSD8
NALCN
SLC13A5
SUMF1
RSPO2
EYS
HCN1
NDUFS7
CERKL
PCARE
CISD2
SDHAF1
CRPPA
PRCD
PET100
OPTIC ATROPHY 9 C4225384 ACO2 22405087, 25351951
POLR3H
Optic Atrophy 1 C0338508 OPA1 11017079, 12036970, 19325939, 11810270, 27604308, 18204809, 11440989, 19900585, 23401657, 20185555, 22382025, 16617242, 12566046, 22857269, 11440988, 19969356, 15948788, 18360822, 14961560, 11017080, 16513463, 9917792, 19319978, 23384603, 23409176
DNM1L 28969390
OPA3 26190011
OPTIC ATROPHY 1 AND DEAFNESS C1852267 OPA1
OPTIC ATROPHY 2 (disorder) C1839576 OPA2
OPTIC ATROPHY 5 (disorder) C1853139 DNM1L 28969390, 27145208, 17460227
YARS2 27145208
OPA5
OPTIC ATROPHY 11 C4310628 YME1L1 27495975, 30544562
OPTIC ATROPHY 4 (disorder) C1854430 OPA4
OPTIC ATROPHY 7 (disorder) C2751812 TMEM126A 19327736, 22815638, 31119195
OPTIC ATROPHY 6 (disorder) C1850281 OPA6
OPTIC ATROPHY 8 C4085249 OPA8
Autosomal recessive optic atrophy, OPA7 type 227976 TMEM126A
Autosomal recessive isolated optic atrophy 98676 YME1L1
ACO2
RTN4IP1
MCAT
Autosomal dominant optic atrophy, classic form 98673 OPA1
DNM1L