Ptosis

Disease Term Disease ID Gene Symbol References
Blepharoptosis C0005745 AARS1
ACTA1
ACTB
ACTG1 8941379
ADAR
AKT1
ALDOA
ALX3
BIN1
SLC25A4
APC
ARL3
ARVCF
ATP6V1A
ATRX
BCS1L
BDNF
FOXL2
BRCA1
BRAF
BRCA2
C1QBP
CACNA1A
CACNA1B
CBL
CDC42
CFL2
CHAT
CHD4
CHN1
CHRNA1
CHRNB1
CHRND
CHRNE
CHRNG
CLTC
COL2A1
COL3A1
COL13A1
COMT
COX6B1
COX8A
COX10
COX15
CREBBP
CSNK2A1
CTBP1
DBH
DCC
DDC
DGUOK
DHCR7
DLAT
DMD
DNM1
DNA2
DNM2
DPAGT1
DUSP6
DVL1
DVL3
TYMP
ECHS1
EDN1
EDNRB
EEF1A2
EMD
EP300
ERCC4
ERF
FANCA
FANCC
FANCD2
FANCE
BPTF
FANCB
FANCF
FANCG
FBN1
GPC4
FGD1
FGF8
FGF12
FGFR1
FGFR3
FGFR2
FHL1
FOXE3
FOXC2
FLI1
FLNA
FUS
FZD2
GABRB2
GABRG2
GCK
GFER
GFPT1
GLE1
GLI3
GNAI3
GP1BB
GRIA3
GRIN2D
GRM1
HMGB3
HNRNPK
HOXB1
HPGD
HRAS
HSPG2
IDS
IGF1
IGHMBP2
INS
PDX1
IREB2
ITGA7
ANOS1
KCNA2
KCNB1
KCNJ11
KIF5A
KIF11
KRAS
KRT5
KRT14
LETM1
LIG4
LMNA
LMX1B
LRP4
SMAD4
MAF
MARK3
MCM5
MECP2
MEN1
KITLG
MITF
ATXN3
KMT2A
MPV17
COX1
COX2
COX3
MTM1
ND1
ND2
ND3
ND4
ND5
ND6
TRNF
TRNH
TRNL1
TRNL2
TRNN
TRNQ
TRNS1
TRNS2
TRNW
MUSK
MYF5
MYF6
MYH3
MYH7
MYH8
MYL2
MYO9A
NDUFA1
NDUFA2
NDUFA4
NDUFA6
NEB
NDUFA9
NDUFA10
NDUFB3
NDUFB9
NDUFB10
NDUFS1
NDUFS2
NDUFS3
NDUFV1
NDUFS4
NDUFS6
NDUFS8
NDUFV2
NF1
NOTCH3
NPHP1
NRAS
NTRK2
ROR2
OPA1
PAX3
PAX6
PAX7 31092906
PDGFRB
PDHA1
PEPD
PEX1
PEX6
PEX7
PEX10
PEX12
PEX13
PEX14
PHYH
PIK3R2
PLCB4
PLEC
POLG
PPP3CA
MAP2K1
MAP2K2
MASP1
PSMD12
PTEN
PTPN11 11992261, 19077116, 12960218, 16124853
PTS
PEX19
PEX2
PEX5
RAD21 30125677
RAD51
RAD51C
RAF1
RAP1A
RAP1B
RAPSN
RASA2
RB1
DPF2
REV3L
RIT1
RRAS
RREB1
RYR1
SC5D
SCN3A
SCN4A
SCN8A
SCO1
SDHA
SDHD
SKI
SLC1A2
SLC3A1
SLC6A8
SLC6A9
SLC16A2
SLC18A2
SLC18A3
SLC25A1
SLCO2A1
SNAI2
SMARCA4
SMARCB1
SMARCC2
SMARCE1
SNAP25
SOS1 19020799, 17586837, 19953625, 20683980, 21387466
SOS2
SOX4
SOX10
SOX11
SPR
STXBP1
ABCC8
SURF1
VAMP1
TACR3
TBX1
TCF20
TCOF1
TFAP2A
TFAP2B
TGIF1
TH
TK2
TOP3A
TPM2
TPM3
TTN
HIRA
TWIST1
UBA1
UFD1
KDM6A
VCP
WFS1
WHCR
NSD2
NELFA
WNT5A
WT1
XRCC2
YWHAG
BRPF1
KAT6A
KMT2D
ALX1
PABPN1
AP3B2
LZTR1
SMC1A
NAA10
ARID1A
COLQ
PEX3
CNTNAP1 27668699
CDK13
TP63
DCHS1
EED
PEX11B
SUCLA2
HESX1
FGF17
SYNGAP1
SYNJ1
SQSTM1
SGPL1
AIP
PIGQ
SMC3
ARHGEF2
HACD1
LONP1
HS6ST1
PEX16
ECEL1
PIGL
PREPL
SEC24C
PUM1
SEMA3E
CEP104
KIAA0586
ZEB2
MAFB
MED12
SLC12A6
SCO2
DNM1L
HUWE1
SF3B4
KLHL41
MICU1
SEMA3A
TUBB3
YAP1
MAD2L2
SLC30A9
PIBF1
FBLN5
NOP56
RNASEH2A
COLEC10
STAMBP
FARS2
EBP
SIX2
KDM5B
ZMYND11
SEPTIN9
CPLX1
AFG3L2
TLK2
POLG2
TREX1
MRAS
PUF60
CNKSR2
FASTKD2
TRAK1
RAB3GAP1
ZNF423
TAB2
PLXND1
ANKLE2
SYNE2
KATNIP
RPGRIP1L
SZT2
SYNE1
SPECC1L
MED13L
ADNP
TARDBP
KAT6B
FLRT3
NIPBL
NDUFAF3
SAMHD1
PARS2
NECAP1
NSMF
SETBP1
AUTS2
KIFBP
ZBTB20
PTPN22
FBXL3
SLC17A5
CYFIP2
B9D1
COQ2
NDUFAF4
UBE2T
TBK1
ANKRD11
GMPPB
LRP12
EFEMP2
RRM2B
SOST
YARS2
NDUFA13
SEPSECS
ABHD5
NDUFAF1
IER3IP1
TACO1
TMEM216
TIMMDC1
ACTL6B
TMEM138
LIPT1
WWOX
MAP3K20
FGFRL1
NDUFB11
IL17RD
AHI1
QRICH1
BCOR
NSUN2
MKS1
ADPRS
FANCL
ANO10
DARS2
RFWD3
SETD5
FANCI
ASXL2
FOXRED1
CHD7
PEX26
PACS1
IARS2
TENM3
WDR11
NGLY1
TMEM126B
HDAC8
ZC4H2
NDUFA12
KLHL7
LMOD3
INPP5E
TWNK
CCDC47
SALL4
SELENON
PRR12
ARID1B
CC2D2A
ZSWIM6
FANCM
ZNF462 14564155
SLC5A7
PROK2
PIEZO2
CDH23
IFIH1
NXN
MTMR14
ARV1
TMEM237
CPLANE1
MRPS34
COLEC11
NDUFAF5
TMEM43
SLC52A2
TMEM231
TCTN1
RNASEH2B
FAT4
PALB2
NARS2
CSPP1
TCTN2
UBA5
DHDDS
CEP290
ARMC9
NUBPL
SLC19A3
B9D2
SPRY4
MED25
ITCH
BRIP1
RNASEH2C
TRAF7
UTP23 30125677
PHF6
TMEM107
COA8
SLX4
COL25A1
TUBB6
KISS1R
MYPN
MYO18B
WDR73
COX14
SHANK3
ALG2
UBE3B
RSPRY1
TMEM67
MTRFR
NDUFAF2
MGME1
TBCK
CEP41
FDX2
SLC52A3
GPRASP2
NUS1
COX20
ADSS1
MTFMT
EARS2
NDUFA11
SYT2
TBC1D20
PROKR2
DIS3L2
NDUFAF6
A2ML1
B3GLCT
CEP120
SPRED1
LGI4
ARID2
ALG14
ARL13B
C9orf72
HYLS1
JMJD1C
AK9
RNASEH1
STAC3
NALCN
KANSL1
SLC13A5
CCDC141
UNC80
DOK7
HCN1
NDUFS7
KIF7
AGRN
FEZF1
MYMK
KBTBD13
CHCHD10
SDHAF1
PET100
Ptosis C0033377 AARS1
ACTA1
ACTB
ACTG1 8941379
ADAR
AKT1
ALDOA
ALX3
BIN1
SLC25A4
APC
ARL3
ARVCF
ATP6V1A
ATRX
BCS1L
BDNF
FOXL2
BRCA1
BRAF
BRCA2
C1QBP
CACNA1A
CACNA1B
CBL
CDC42
CFL2
CHAT
CHD4
CHN1
CHRNA1
CHRNB1
CHRND
CHRNE
CHRNG
CLTC
COL2A1
COL3A1
COL13A1
COMT
COX6B1
COX8A
COX10
COX15
CREBBP
CSNK2A1
CTBP1
DBH
DCC
DDC
DGUOK
DHCR7
DLAT
DNM1
DNA2
DNM2
DPAGT1
DUSP6
DVL1
DVL3
TYMP
ECHS1
EDN1
EDNRB
EEF1A2
EMD
EP300
ERCC4
ERF
FANCA
FANCC
FANCD2
FANCE
BPTF
FANCB
FANCF
FANCG
FBN1
GPC4
FGD1
FGF8
FGF12
FGFR1
FGFR3
FGFR2
FHL1
FOXE3
FOXC2
FLI1
FLNA
FUS
FZD2
GABRB2
GABRG2
GCK
GFER
GFPT1
GLE1
GLI3
GNAI3
GP1BB
GRIA3
GRIN2D
GRM1
HMGB3
HNRNPK
HOXB1
HPGD
HRAS
HSPG2
IDS
IGF1
INS
PDX1
IREB2
ITGA7
ANOS1
KCNA2
KCNB1
KCNJ11
KIF5A
KIF11
KRAS
KRT5
KRT14
LETM1
LIG4
LMNA
LMX1B
LRP4
SMAD4
MAF
MARK3
MCM5
MECP2
MEN1
KITLG
MITF
ATXN3
KMT2A
COX1
COX2
COX3
MTM1
ND1
ND2
ND3
ND4
ND5
ND6
TRNF
TRNH
TRNL1
TRNL2
TRNN
TRNQ
TRNS1
TRNS2
TRNW
MUSK
MYF5
MYF6
MYH3
MYH7
MYH8
MYL2
MYO9A
NDUFA1
NDUFA2
NDUFA4
NDUFA6
NEB
NDUFA9
NDUFA10
NDUFB3
NDUFB9
NDUFB10
NDUFS1
NDUFS2
NDUFS3
NDUFV1
NDUFS4
NDUFS6
NDUFS8
NDUFV2
NF1
NOTCH3
NPHP1
NRAS
NTRK2
ROR2
OPA1
PAX3
PAX6
PAX7 31092906
PDGFRB
PDHA1
PEPD
PEX1
PEX6
PEX7
PEX10
PEX12
PEX13
PEX14
PHYH
PIK3R2
PLCB4
PLEC
POLG
PPP3CA
MAP2K1
MAP2K2
MASP1
PSMD12
PTEN
PTPN11
PTS
PEX19
PEX2
PEX5
RAD21
RAD51
RAD51C
RAF1
RAP1A
RAP1B
RAPSN
RASA2
RB1
DPF2
REV3L
RIT1
RRAS
RREB1
RYR1
SC5D
SCN3A
SCN4A
SCN8A
SCO1
SDHA
SDHD
SKI
SLC1A2
SLC3A1
SLC6A8
SLC6A9
SLC16A2
SLC18A2
SLC18A3
SLC25A1
SLCO2A1
SNAI2
SMARCA4
SMARCB1
SMARCC2
SMARCE1
SNAP25
SOS1
SOS2
SOX4
SOX10
SOX11
SPR
STXBP1
ABCC8
SURF1
VAMP1
TACR3
TBX1
TCOF1
TFAP2A
TFAP2B
TGIF1
TH
TK2
TOP3A
TPM2
TPM3
TTN
HIRA
TWIST1
UBA1
UFD1
KDM6A
VCP
WFS1
WHCR
NSD2
NELFA
WNT5A
WT1
XRCC2
YWHAG
BRPF1
KAT6A
KMT2D
ALX1
PABPN1
AP3B2
LZTR1
SMC1A
NAA10
ARID1A
COLQ
PEX3
CNTNAP1
CDK13
TP63
DCHS1
EED
PEX11B
SUCLA2
HESX1
FGF17
SYNGAP1
SYNJ1
SQSTM1
SGPL1
AIP
SMC3
ARHGEF2
HACD1
LONP1
HS6ST1
PEX16
ECEL1
PIGL
PREPL
SEC24C
PUM1
SEMA3E
CEP104
KIAA0586
ZEB2
MAFB
MED12
SLC12A6
SCO2
DNM1L
HUWE1
SF3B4
KLHL41
MICU1
SEMA3A
TUBB3
YAP1
MAD2L2
SLC30A9
PIBF1
FBLN5
NOP56
RNASEH2A
COLEC10
STAMBP
FARS2
EBP
SIX2
KDM5B
ZMYND11
SEPTIN9
CPLX1
AFG3L2
TLK2
POLG2
TREX1
MRAS
CNKSR2
FASTKD2
TRAK1
RAB3GAP1
ZNF423
TAB2
PLXND1
ANKLE2
SYNE2
KATNIP
RPGRIP1L
SZT2
SYNE1
SPECC1L
ADNP
TARDBP
KAT6B
FLRT3
NIPBL
NDUFAF3
SAMHD1
PARS2
NECAP1
NSMF
SETBP1
AUTS2
KIFBP
ZBTB20
PTPN22
FBXL3
SLC17A5
CYFIP2
B9D1
COQ2
NDUFAF4
UBE2T
TBK1
GMPPB
LRP12
EFEMP2
RRM2B
SOST
YARS2
NDUFA13
ABHD5
NDUFAF1
IER3IP1
TACO1
TMEM216
TIMMDC1
ACTL6B
TMEM138
LIPT1
WWOX
MAP3K20
FGFRL1
NDUFB11
IL17RD
AHI1
QRICH1
BCOR
NSUN2
MKS1
ADPRS
FANCL
ANO10
DARS2
RFWD3
SETD5
FANCI
ASXL2
FOXRED1
CHD7
PEX26
PACS1
IARS2
TENM3
WDR11
NGLY1
TMEM126B
HDAC8
ZC4H2
NDUFA12
LMOD3
INPP5E
TWNK
CCDC47
SALL4
SELENON
ARID1B
CC2D2A
ZSWIM6
FANCM
ZNF462 14564155
SLC5A7
PROK2
PIEZO2
CDH23
IFIH1
NXN
MTMR14
ARV1
TMEM237
CPLANE1
MRPS34
COLEC11
NDUFAF5
TMEM43
SLC52A2
TMEM231
TCTN1
RNASEH2B
FAT4
PALB2
NARS2
CSPP1
TCTN2
UBA5
DHDDS
CEP290
ARMC9
NUBPL
SLC19A3
B9D2
SPRY4
MED25
ITCH
BRIP1
RNASEH2C
TRAF7
PHF6
TMEM107
COA8
SLX4
COL25A1
TUBB6
KISS1R
MYPN
MYO18B
WDR73
COX14
SHANK3
ALG2
UBE3B
RSPRY1
TMEM67
MTRFR
NDUFAF2
MGME1
CEP41
FDX2
SLC52A3
GPRASP2
NUS1
COX20
MTFMT
EARS2
NDUFA11
SYT2
TBC1D20
PROKR2
DIS3L2
NDUFAF6
A2ML1
B3GLCT
CEP120
SPRED1
LGI4
ARID2
ALG14
ARL13B
C9orf72
HYLS1
JMJD1C
AK9
RNASEH1
STAC3
NALCN
KANSL1
SLC13A5
CCDC141
UNC80
DOK7
HCN1
NDUFS7
AGRN
FEZF1
MYMK
KBTBD13
CHCHD10
SDHAF1
PET100
Progressive ptosis C1834015 CHAT
PABPN1