| Glaucoma |
C0017601 |
ABCA4
|
|
|
ACVR1
|
|
|
AHR
|
|
|
ANGPT1
|
30054594 |
|
SLC25A4
|
|
|
FAS
|
|
|
ARL3
|
|
|
ARSB
|
|
|
ARVCF
|
|
|
ATR
|
|
|
BBS1
|
|
|
BBS2
|
|
|
BDNF
|
|
|
BUB1
|
|
|
BUB1B
|
|
|
CA4
|
|
|
CBS
|
|
|
CDKN2A
|
21532571 |
|
CDKN2B
|
21532571, 22792221 |
|
CENPE
|
|
|
CLN3
|
|
|
CNGB1
|
|
|
CNGA1
|
|
|
COL1A1
|
|
|
COL2A1
|
|
|
COL3A1
|
|
|
COL4A1
|
|
|
COL5A1
|
|
|
COL5A2
|
|
|
COL11A1
|
22922875 |
|
COMT
|
|
|
COX7B
|
|
|
CREBBP
|
|
|
CRX
|
|
|
CRYAA
|
|
|
VCAN
|
|
|
CYP1B1
|
|
|
DAG1
|
|
|
DHCR7
|
|
|
ELN
|
|
|
EP300
|
|
|
ETS1
|
30054594 |
|
MECOM
|
30054594 |
|
FBN1
|
|
|
FKTN
|
|
|
FOXC1
|
|
|
FOXE3
|
|
|
KDSR
|
|
|
GJA1
|
|
|
GJB3
|
|
|
GNAQ
|
|
|
GP1BB
|
|
|
GSN
|
|
|
GTF2I
|
|
|
GUCA1B
|
|
|
HCCS
|
|
|
HLA-DRB1
|
|
|
IDH3A
|
|
|
IDH3B
|
|
|
IDUA
|
|
|
IMPDH1
|
|
|
KIF11
|
|
|
LIMK1
|
|
|
LMX1B
|
30054594 |
|
LOXL1
|
17690259 |
|
LTBP2
|
19361779, 27149523 |
|
MAK
|
|
|
KMT2A
|
|
|
MYLK
|
20375339 |
|
MYOC
|
30104761, 30389787 |
|
NDP
|
|
|
NEK2
|
|
|
NF1
|
|
|
NHS
|
|
|
NRL
|
|
|
OCRL
|
|
|
PAX6
|
|
|
PCNT
|
|
|
PDE6A
|
|
|
PDE6G
|
|
|
PDE6B
|
|
|
PEX1
|
|
|
PEX6
|
|
|
PEX10
|
|
|
PEX12
|
|
|
PEX13
|
|
|
PEX14
|
|
|
PIK3C2A
|
|
|
PIK3R1
|
|
|
PITX2
|
|
|
PLOD1
|
|
|
MASP1
|
|
|
PTCH1
|
|
|
PEX19
|
|
|
PEX2
|
|
|
PEX5
|
|
|
RAD21
|
|
|
RASA1
|
|
|
RBBP8
|
|
|
RBP3
|
|
|
PRPH2
|
|
|
RFC2
|
|
|
RGR
|
|
|
RHO
|
|
|
RLBP1
|
|
|
ROM1
|
|
|
RP9
|
|
|
RP1
|
|
|
RP2
|
|
|
RPGR
|
|
|
RPE65
|
|
|
RREB1
|
|
|
RS1
|
|
|
SAG
|
|
|
SKIV2L
|
|
|
TBX1
|
|
|
ZEB1
|
|
|
TEK
|
|
|
TGFB1
|
|
|
TGFB2
|
20375339 |
|
TIMP3
|
|
|
TUB
|
|
|
TULP1
|
|
|
HIRA
|
|
|
UFD1
|
|
|
USH2A
|
|
|
CLRN1
|
|
|
VHL
|
|
|
BEST1
|
|
|
CLIP2
|
|
|
WFS1
|
|
|
WT1
|
|
|
IFT88
|
|
|
SMC1A
|
|
|
NAA10
|
|
|
OFD1
|
|
|
PEX3
|
|
|
PTCH2
|
|
|
SLC4A4
|
18614622 |
|
PEX11B
|
|
|
PROM1
|
|
|
HERC2
|
30104761 |
|
BAZ1B
|
|
|
SMC3
|
|
|
PRPF4
|
|
|
PRPF3
|
|
|
BUB3
|
|
|
LARGE1
|
|
|
LRAT
|
|
|
TRIP13
|
|
|
RECQL4
|
|
|
PEX16
|
|
|
ADAMTS3
|
|
|
GTF2IRD1
|
|
|
SEC24C
|
|
|
TTC37
|
|
|
CEP57
|
|
|
IFT140
|
|
|
RAPGEF5
|
30104761 |
|
DHX38
|
|
|
WASHC5
|
|
|
NR2E3
|
|
|
TOPORS
|
|
|
STUB1
|
|
|
TRAIP
|
|
|
RXYLT1
|
|
|
YAP1
|
|
|
MERTK
|
|
|
POMT1
|
|
|
TXNRD2
|
22922875 |
|
PRPF8
|
|
|
EBP
|
|
|
PLK4
|
|
|
B4GAT1
|
|
|
PRDM5
|
|
|
CEP152
|
|
|
SNRNP200
|
|
|
ANKLE2
|
|
|
ARHGEF12
|
30054594 |
|
ARHGEF18
|
|
|
CRB1
|
|
|
TDRD7
|
21436445 |
|
ARL2BP
|
|
|
DDX58
|
|
|
PRPF6
|
|
|
FSCN2
|
|
|
NIPBL
|
|
|
TMEM98
|
|
|
CNTNAP2
|
30104761 |
|
PRPF31
|
|
|
IFT172
|
|
|
PTPN22
|
|
|
TBL2
|
|
|
ELP4
|
25027321 |
|
PDE7B
|
30054594 |
|
CPAMD8
|
29556725 |
|
CCDC22
|
|
|
GMPPB
|
|
|
POMT2
|
|
|
SCAPER
|
|
|
IMPG2
|
|
|
YARS2
|
|
|
DERA
|
25027321 |
|
SUFU
|
|
|
TMCO1
|
30054594 |
|
NDUFB11
|
|
|
RBFOX1
|
25027321 |
|
TRIM44
|
|
|
AHI1
|
|
|
BCOR
|
|
|
SRBD1
|
20363506 |
|
SETD5
|
|
|
POMGNT1
|
|
|
PEX26
|
|
|
AGK
|
|
|
EXOC2
|
30054594 |
|
SPATA7
|
|
|
CENPJ
|
|
|
KIZ
|
|
|
HDAC8
|
|
|
KLHL7
|
|
|
ANKH
|
30054594 |
|
BTNL2
|
|
|
KIAA1549
|
|
|
ZSWIM6
|
|
|
SLC7A14
|
|
|
OVOL2
|
|
|
AFAP1
|
30054594, 30104761 |
|
AGBL5
|
|
|
NOD2
|
|
|
XYLT1
|
|
|
IFIH1
|
|
|
SEMA4A
|
|
|
GZF1
|
|
|
CCDC28B
|
|
|
FKRP
|
|
|
FAT4
|
|
|
SRD5A3
|
|
|
ZNF408
|
|
|
DHDDS
|
|
|
BICC1
|
30054594 |
|
PUS1
|
|
|
ADAMTS10
|
|
|
SBF2
|
|
|
MFRP
|
|
|
ARL6
|
|
|
ATRIP
|
|
|
FAM161A
|
|
|
ANTXR1
|
|
|
POMK
|
|
|
ZNF469
|
|
|
POMGNT2
|
|
|
CHRDL1
|
|
|
CDHR1
|
|
|
REEP6
|
|
|
ADAMTSL1
|
21532571 |
|
CHST14
|
|
|
NLRP3
|
|
|
FMNL2
|
30054594 |
|
DNAJC24
|
25027321 |
|
TTC8
|
|
|
CANT1
|
|
|
GJB4
|
|
|
TBC1D20
|
|
|
ZNF513
|
|
|
HGSNAT
|
|
|
PLEKHA7
|
22922875 |
|
B3GLCT
|
|
|
RDH12
|
|
|
CCBE1
|
|
|
B3GALNT2
|
|
|
ESCO2
|
|
|
CFAP418
|
|
|
ADAMTS17
|
|
|
JMJD1C
|
|
|
THSD7A
|
30054594 |
|
CADM2
|
30104761, 30054594 |
|
SH3PXD2B
|
|
|
C14orf39
|
30054594 |
|
FREM2
|
|
|
EYS
|
|
|
CERKL
|
|
|
PCARE
|
|
|
CISD2
|
|
|
PRSS56
|
|
|
CRPPA
|
|
|
PRCD
|
|
|
CDKN2B-AS1
|
30054594, 21532571, 22792221, 30104761 |
|
RNU4ATAC
|
|
|
LOXL1-AS1
|
17690259 |
|
MYOCOS
|
30104761 |
| Glaucoma of childhood |
C2981140 |
ADAR
|
|
|
CYP1B1
|
22878448, 17591938, 19643970, 27777502, 15342693, 10227395, 21081970, 12372064, 27272408, 27243976, 25950505, 23922489, 23218183, 19247456, 22004014, 27820421, 17164573, 18414103, 25109919, 18537981, 21854771, 21600657, 9497261, 19234632, 23218701, 24281366, 28448622, 18227148, 12036985, 11403040, 9097971, 25091052 |
|
FOXC1
|
|
|
FOXE3
|
|
|
FLNA
|
|
|
LTBP2
|
|
|
MYOC
|
21730848 |
|
PAX6
|
|
|
PITX2
|
|
|
PYCR1
|
|
|
SRY
|
|
|
CHST3
|
|
|
RNASEH2A
|
|
|
TREX1
|
|
|
SAMHD1
|
|
|
B3GAT3
|
|
|
IFIH1
|
|
|
RNASEH2B
|
|
|
RNASEH2C
|
|
|
CANT1
|
|
|
CYP1B1-AS1
|
27777502, 19234632, 19643970, 22004014, 23218701, 17591938, 23922489, 9097971, 17164573, 24281366, 11403040, 19247456, 25091052, 12372064, 27272408, 12036985, 25950505, 27820421 |
| Glaucoma, Open-Angle |
C0017612 |
ANGPT1
|
29891935 |
|
BNIP1
|
29891935 |
|
CAV1
|
20835238 |
|
CAV2
|
20835238 |
|
CDKN2B
|
22570617, 22419738 |
|
COL11A1
|
22922875, 29891935 |
|
CYP1B1
|
|
|
FOXC1
|
26752265 |
|
GMDS
|
25173105, 29891935 |
|
LMO7
|
29449654 |
|
LMX1B
|
29891935 |
|
LOXL1
|
20835238 |
|
LPP
|
29891935 |
|
MYOC
|
21059646 |
|
NEDD9
|
22605921 |
|
NTF4
|
|
|
SIX6
|
26752265 |
|
PMM2
|
25173107 |
|
PTGER3
|
22419738 |
|
PTGS2
|
16330497 |
|
RARB
|
29891935 |
|
ATXN2
|
26752265 |
|
DGKD
|
29891935 |
|
MADD
|
29891935 |
|
CADPS
|
22605921 |
|
OPTN
|
25096716, 21059646 |
|
TXNRD2
|
22922875, 26752265 |
|
FARS2
|
27001270 |
|
CHEK2
|
29891935 |
|
ARHGEF12
|
29891935 |
|
ZFPM2
|
22570617 |
|
TOR1AIP1
|
22428042 |
|
PDE7B
|
29891935 |
|
PLCE1
|
29891935 |
|
PRKAG2
|
29891935 |
|
TMCO1
|
21532571, 26752265, 29891935 |
|
ACOXL
|
29891935 |
|
EXOC2
|
29891935 |
|
ANKH
|
29891935 |
|
TMEM181
|
29891935 |
|
AFAP1
|
25173105, 29891935 |
|
FNDC3B
|
23291589 |
|
BICC1
|
29891935 |
|
FMNL2
|
29891935 |
|
FBXO32
|
29891935 |
|
SDR9C7
|
22605921 |
|
WDR36
|
21059646 |
|
ASB10
|
|
|
MPP7
|
27001270 |
|
PLEKHA7
|
22922875 |
|
ADAMTS16
|
22428042 |
|
THSD7A
|
29891935 |
|
CADM2
|
29891935 |
|
LINC02052
|
29449654 |
|
C14orf39
|
22570617, 26752265 |
|
CDKN2B-AS1
|
29452408, 22428042, 22570617, 27623284, 25861811, 21532571, 25173105, 29891935, 22419738 |
|
UBA52P6
|
22570617 |
|
TMCO1-AS1
|
29891935 |
|
PKN2-AS1
|
29891935 |
|
PRANCR
|
22428042 |
|
CASC20
|
29891935 |
| Glaucoma, Primary Open Angle |
C0339573 |
CAV1
|
20835238 |
|
CAV2
|
20835238 |
|
DDX3X
|
|
|
FOXC1
|
26752265 |
|
LTBP2
|
|
|
MYOC
|
24732711, 9005853, 19023451, 11803488, 17615537, 23304066, 11815346, 10815160, 21059646, 17562996, 12872267, 12189160, 22933836, 9639450, 11535458, 20021252 |
|
PTGS2
|
16330497 |
|
ATXN2
|
26752265 |
|
TP53BP2
|
28150229 |
|
OPTN
|
17389490, 11834836, 15557444, 21059646, 15226658, 25096716, 14597044, 20085643, 23669351, 25681989, 15326130, 12939304, 22854040, 24752605 |
|
TXNRD2
|
26752265 |
|
CARD10
|
27896285 |
|
TMCO1
|
21532571 |
|
FNDC3B
|
23291589 |
|
FASTKD1
|
|
|
WDR36
|
21059646 |
|
CDKN2B-AS1
|
21532571 |
|
MYOCOS
|
23304066, 24732711, 10815160, 11815346, 9639450, 17615537, 11535458, 12872267, 22933836, 11803488, 12189160, 19023451, 20021252, 17562996, 9005853 |
| GLAUCOMA 3, PRIMARY INFANTILE, B |
C1832977 |
CYP1B1
|
|
|
LTBP2
|
|
|
TEK
|
|
|
CYP1B1-AS1
|
|
| GLAUCOMA 1, OPEN ANGLE, A |
C1842028 |
CYP1B1
|
11774072 |
|
MYOC
|
12189160, 9345106, 9535666, 17210859, 15795224, 9521427, 10340788, 15025728, 12860809, 16401791, 25524706, 10980537, 9697688, 12356829, 9490287, 12442283, 10916185, 12362081, 9328473, 9510647, 12872267, 10196380, 10798654, 15534471, 10330365, 9005853, 11774072, 17499207, 9361308, 10819638, 10644174, 11004290, 10873982, 9863594, 15255110, 9792882 |
|
MYOCOS
|
|
| GLAUCOMA 3, PRIMARY CONGENITAL, A |
C1856439 |
CYP1B1
|
9097971, 18470941, 16490498, 16688110, 10655546, 27243976, 19643970, 11774072, 14640114, 12525557, 16862072, 12372064, 11527932, 22004014, 21081970, 11403040, 11184479, 11980847, 15037581, 9497261, 15342693, 16735994, 10227395, 21850185, 18537981, 14635112, 15255109, 21854771, 9463332, 12036985, 15475877 |
|
MYOC
|
15733270 |
|
CYP1B1-AS1
|
22004014, 19643970, 27243976, 11403040, 21850185 |
| Glaucoma, Suspect |
C0017614 |
DDIT3
|
24691439 |
|
NR3C1
|
17563720 |
|
MMP1
|
20089869 |
| Glaucoma 3, Primary Congenital, D |
C2751316 |
LTBP2
|
20179738, 19361779, 19656777 |
| GLAUCOMA 1, OPEN ANGLE, O |
C2751294 |
NTF4
|
20215012, 19765683 |
| GLAUCOMA 3, PRIMARY CONGENITAL, E |
C4310639 |
TEK
|
27270174 |
| GLAUCOMA 1, OPEN ANGLE, B |
C3887942 |
FASTKD1
|
|
| Glaucoma 1, Open Angle, G |
C1835933 |
WDR36
|
15677485, 18172102 |
| GLAUCOMA 1, OPEN ANGLE, F (disorder) |
C1863926 |
ASB10
|
22156576 |
| Juvenile glaucoma |
98977 |
CYP1B1
|
|
|
MYOC
|
|
