Disease Term Disease ID Gene Symbol References
Nystagmus C0028738 AARS1
ABCB7
ABCA4
ACO2
ACOX1
ADAR
ADD3
ADSL
AHR
ANK1
SLC25A4
APC
ARL3
ASAH1
ASPA
ATM
RERE
ATP1A2
ATP1A3
ATP2B3
ATP5F1A
ATP6V1A
ATP6V1E1
ADGRB2 28891236
BBS1
BBS2
BBS4
BCS1L
BDNF
BMP4
FOXL2
BRCA1
BRAF
BRCA2
BUB1B
CFAP410
CA4
CACNA1A
CACNA1B
CACNA1E
CACNA1F
SLC25A20
CAPN1
CAV1
CDH3
CENPE
CHAT
CHN1
LYST
ERCC8
CLCN7
TPP1
CLTC
CNGB1
CNGA1
CNGA3
COL2A1
COL11A1
COL13A1
COX10
COX15
CRX
CRYAA
CRYBA4
CRYBB1
CRYBB2
CRYGC
CRYGD
CTBP1
CTNNB1
CYP1B1
DARS1
DCC
DCX
DGUOK
DHCR7
DHCR24
DLAT
DNM1
DNMT1
DPAGT1
DPYD
ATN1
DUSP6
ECHS1
EDNRB
EEF1A2
EEF2
EFNB1
EIF2S3
EPRS1
ERCC1
ERCC2
ERCC3
ERCC4
ERCC5
ERCC6
EXT2
FANCA
FANCC
FANCD2
FANCE
FANCB
FANCF
FANCG
FBN1
FDXR
FGF8
FGF12
FGFR1
FOXG1
FOXC1
FOXE3
FLG
FMR1
FXN
GABRB2
GABRD
GABRG2
GALC
OPN1MW
GJA1
GJA8
GJB1
GNAS
GNAT1
GNAT2
GNB1 27108799
GNB3
GRIA4
GRID2
GRIN2D
GRM6
GTF2E2
GUCA1B
GUCY2D
H3-3A
HSD17B10
HMX1
HPS1
HSD17B4
HSPD1
IDH3A
IDH3B
IFRD1
IGBP1
IMPDH1
ITPR1
ANOS1
KCNA2
KCNB1
KCNC3
KCND3
KCNJ13
KCNMA1
KIF2A
KIF5A
KIF11
KRAS
L1CAM
LAMB2
LETM1
LIG4
LIM2
LMNB1
LRP4
LRP5
MAF
MAG
MAK
MAN2B1
MC1R
MITF
KMT2A
TRPM1
MOCS1
MOCS2
MPV17
ATP6
ND1
ND2
ND3
ND4
ND5
ND6
MTRR
TRNK
TRNL1
TRNV
TRNW
MVK
MYO5A
MYO7A
MYO9A
NAGA
NDP
NDUFA1
NDUFA2
NDUFA4
NDUFA6
NDUFA9
NDUFA10
NDUFB3
NDUFB8
NDUFB9
NDUFB10
NDUFS1
NDUFS2
NDUFS3
NDUFV1
NDUFS4
NDUFS6
NDUFS8
NDUFV2
NEFL
NEK2
NEU1
NFIX
NHS
NPHP1
NRAS
NRL
NTRK2
GPR143 19390656
OCA2
OCRL
OPA1
OPHN1
SIX6
OTX2
PRDX1
PAX2
PAX6
PCYT1A
PDE6A
PDE6C
PDE6D
PDE6G
PDE6B
PDHA1
PEX1
PEX6
PEX7
PEX10
PEX12
PEX13
PEX14
PHYH
SERPINI1
PITX2
PLP1
PMM2
EXOSC9
POLG
POU3F4
PPP3CA
PRKCG
PRKD1
MAP2K1
MAP2K2
PRNP
PRPS1
PTPN11
PURA
PEX19
PEX2
PEX5
RAD21
RAD51
RAD51C
RAF1 17603483, 17603482
RAP1A
RAP1B
RARS1 24777941
RASA2
RBP3
OPN1LW
PRPH2
DPF2
RGR
RHO
GRK1
RIT1
RLBP1
ROM1
RORA
RP9
RP1
RP2
RPGR
RPE65
RRAS
SAG
SALL2
ATXN1
ATXN2
ATXN7
ATXN8OS
SCN1A
SCN2A
SCN3A
SCN8A
SDHA
SDHB
SDHD
SGSH
SIM1
SKI
SLC1A2
SLC2A1
SLC18A3
SLC19A1
SLC25A1
SMARCA4
SMARCB1
SMARCC2
SMARCE1
SMPD1
SNAP25
SON
SOS1
SOS2
SOX2
SOX3
SOX4
SOX10
SOX11
SPAST
SPG7 26626314
SRY
ELOVL4
STXBP1
SURF1
VAMP1
SYT1
TACR3
TAT
TFAP2A
NR2F1
TTPA
TUB
TTR
TUFM
TULP1
TYR
TYRP1
UBE3A
UCHL1
SLC35A2
USH2A
CLRN1
KDM6A
VHL
BEST1
WFS1
WHCR
NSD2
NELFA
WT1
XRCC1
XRCC2
XRCC4
YWHAG
RNF113A
ALMS1
KMT2D
IFT88
AP3B2
GAN
MKKS
LZTR1
SMC1A
NAA10
LAGE3
ARID1A
PLA2G6
OGT
OFD1
PRSS12
PEX3
KCNAB2
AP3B1
DEGS1
CASK
TNFSF11
STX16
GPAA1
TNFRSF11A
PEX11B
DPM1
HESX1
FGF17
SYNGAP1
PROM1
SYNJ1
ST3GAL5
SQSTM1
AP3D1
PIGQ
USP8
SMC3
PRPF4
PRPF3
CTDP1
ARHGEF2
SLC24A1
SLC33A1
LRAT
RAB11B
CACNA2D2
AIMP1
ADGRG1
LONP1
PLAA
HS6ST1
RECQL4
PEX16
CRIPT
CYP7B1
ATG5
MPDU1
GDF3
IQCB1
RUBCN
SEMA3E
CEP104
IFT140
FRMPD4
DHX38
KIAA0586
KIAA0753
ARNT2
MAFB
SLC12A6
SCO2
NR2E3
DNM1L
HUWE1
TOPORS
TCIRG1
WARS2
SEMA3A
TUBB3
TUBB4A 24785942
YAP1
MAD2L2
MERTK
PIBF1
SLC9A6
NOP56
RNASEH2A
SLC35A1
SLC19A2
MAB21L2
PRPF8
GNB5
EBP
CLDN16
PLK4
SDCCAG8
CPLX1
SRCAP
PNPLA6
AFG3L2
CLP1
IFT27
POLR3A
TREX1
MRAS
CNKSR2
TRAK1
ATF6
RAB18
RPIA
DKK1
TRIM32
NT5C2
SNRNP200
SETX
ZNF423
MAPK8IP3
PMPCA
VPS13A
EXOC6B 23422942, 25256811
PACS2
KATNIP
AGTPBP1
RPGRIP1L
SZT2
SYNE1
ARHGEF18
ATP13A2
CRB1
AP4E1
ZFYVE26
KAT6B
PIK3R5
PIGN
ARL2BP
PLD3
AIPL1
FLRT3
FLRT1
PRPF6
FSCN2
ATXN10
NIPBL
COG4
WHRN
NDUFAF3
SAMHD1
SIN3A
PARS2
MMACHC
NECAP1
NSMF
ABHD12 24697911, 29571850
PRPF31
TCTN3
TRAF3IP1
IFT172
PTPN22
PHGDH
HIBCH
TINF2
SACS
SLC17A5
CNNM4
ELP4
CYFIP2
B9D1
FOXP1
TUBGCP4
COQ2
BBS9
MMADHC
DIMT1
OSTM1
NDUFAF4
UBE2T
ANKRD11
SNX10
GMPPB
SLC25A24
SCAPER
KCNK4
IMPG2
SOST
EXOSC3
WDPCP
YARS2
NDUFA13
SEPSECS
IFT52
ABHD5
MECR
NDUFAF1
SLC45A2
TACO1
GLRX5
TMEM216
TIMMDC1
PHF21A
MBTPS2
ACTL6B
HIKESHI
TMEM138
LIPT1
PIGT
WWOX
INPP5K
FGFRL1
NANS
RNF216
ADAMTSL4
NDUFB11
MAGEL2
LZTFL1
TMEM106B
PDP1
CNGB3
IL17RD
TRIM44
AHI1
GDAP2
BCOR
NSUN2
NCAPG2
TTC19
MKS1
ADPRS
PHIP
FANCL
ANO10
MTPAP
DARS2
RFWD3
VPS13D
SETD5
ATAD3A
BBS7
FANCI
SLC29A3
FOXRED1
POMGNT1
CHD7
PEX26
PACS1
IARS2
WDR11
AGK
IFT122
ERMARD
SPATA7
KIZ
TMEM126B
HDAC8
NDUFA12
KLHL7
INPP5E
TWNK
COQ8A
CABP4
RPGRIP1 11283794
SALL4
THOC2
MCOLN1
ARID1B 26350204, 22426309
KIDINS220
AARS2
HECW2
WDR35
CC2D2A
WDR48
KIAA1549
FANCM
GBA2
SLC7A14
EPG5
WDR19
ELOVL5
SLC5A7
NYX
AGBL5
ALX4
PROK2
PRDM16
SLC39A8
XYLT2
IFIH1
IRF2BPL
SEMA4A
ROBO3
NSD1
SIL1
ARV1
NMNAT1
KLC2
PORCN
TMEM237
CPLANE1
MRPS34
NDUFAF5
CCDC28B
FA2H
SLC52A2
TMEM231
TCTN1
RNASEH2B
SH3TC2
ROGDI
SRD5A3
PALB2
NARS2
BBS10
ZNF408
HPS6
CSPP1
TCTN2
ALG13
UBA5
L2HGDH
DHDDS
PDZD7
CEP290
OPA3
SPG11
ARMC9
NUBPL
SLC19A3
COL18A1
CLPB
SPRY4
LRMDA
SLC4A11
BRIP1
ADGRV1
DTNBP1
ARL6
CEP78
FAM161A
RNASEH2C
ANTXR1
PHF6
HPS3
SLX4
NKX6-2
COL25A1
KISS1R
WDR73
USP45
REPS1
ATCAY
ALG2
TUBGCP6
GFM1
PNPT1
UBE3B
LYRM7
SLC25A46
TMEM67
MTRFR
NDUFAF2
CDHR1
BBIP1
REEP6
CACNA2D4
TBCK
PIGS
CEP41
PRRT2
IFT43
TOE1
NUS1
TRAPPC6B
ISCA2
TTC8
MTFMT
MICOS13
NDUFA11
SYT2
NAXE
PROKR2
BBS5
ZNF513
NADK2
MPLKIP
NDUFAF6
HGSNAT
A2ML1
B3GLCT
RDH12
TTBK2
SLC38A8
BEAN1
CLDN19
CEP120
ESCO2
CFAP418
VPS13B
BBS12
LCA5
ARX
ARID2
FCSK
IBA57
VWA3B
ARL13B
SAMD9L
HYLS1
BRAT1
NALCN
RNU12
SLC24A5
SLC13A5
LAMA1
CCDC141
UNC80
FAM149B1
FLG-AS1
TMEM240
SLC6A19
RD3
LRIT3
EYS
HCN1
NDUFS7
KIF7
CERKL
AGRN
PCARE
FEZF1
GDF6
GTF2H5
GPR179
CISD2
SDHAF1
ATXN8
PRCD
PET100
RNU4ATAC
OCLN
NPHP3-ACAD11
Nystagmus, End-Position C0271390 CACNA1A
CACNB4
FGF14
GRID2
ATXN3
MRE11
PRKCG
RFC1
ATXN1
ATXN2
SLC1A3
SPTBN2
TBP
VLDLR
XPA
STUB1
AFG3L2
SETX
PIK3R5
ATXN10
COQ2
WWOX
APTX
TDP1
SPG11
Dissociated Nystagmus C0155380 RPGRIP1 11283794
Periodic Alternating Nystagmus C0271382 RPGRIP1 11283794
Symptomatic Nystagmus C0271383 RPGRIP1 11283794
Spontaneous Ocular Nystagmus C0271384 RPGRIP1 11283794
Rebound Nystagmus C0271387 RPGRIP1 11283794
Jerk Nystagmus C0271389 RPGRIP1 11283794
See-Saw Nystagmus C0344243 RPGRIP1 11283794
TMEM231
Retraction Nystagmus C0520731 RPGRIP1 11283794
Temporary Nystagmus C0521753 RPGRIP1 11283794
Permanent Nystagmus C0521754 RPGRIP1 11283794
Unidirectional Nystagmus C0521755 RPGRIP1 11283794
Multidirectional Nystagmus C0521756 RPGRIP1 11283794
Conjugate Nystagmus C0521757 RPGRIP1 11283794
Convergence Nystagmus C0521759 RPGRIP1 11283794
Fatigable Positional Nystagmus C0521760 RPGRIP1 11283794
Non-Fatigable Positional Nystagmus C0521761 RPGRIP1 11283794
Nystagmus 1, congenital, X- linked C1839580 FRMD7 18246032, 18431453, 23946638, 17893669, 22490987, 21303855, 17846367, 21365021, 19892780, 17013395, 17397053, 17962394, 17768376, 18087240
SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT C1857855 SPG29 16130112
NON RARE IN EUROPE: Idiopathic infantile nystagmus 651 FRMD7
GPR143