| Cataract microcornea syndrome |
C1861829 |
ABCA3
|
25406294 |
|
CRYAA
|
17724170, 21686328, 21612679 |
|
CRYBA4
|
20577656 |
|
CRYBB1
|
16110300, 21972112 |
|
CRYBB2
|
21402992 |
|
CRYGC
|
22876111, 19204787 |
|
CRYGD
|
17724170 |
|
GJA8
|
20806042, 17724170, 16604058 |
|
MAF
|
17982426 |
| Cataract |
C0086543 |
ABCA4
|
|
|
ACTB
|
|
|
AGA
|
|
|
JAG1
|
|
|
AHR
|
|
|
AKT1
|
|
|
ALDH3A1
|
28038895 |
|
ALDOB
|
|
|
AKR1B1
|
21329682, 25541468, 21376710, 28137510 |
|
ALX3
|
|
|
SLC25A4
|
|
|
APC
|
|
|
AIRE
|
|
|
FAS
|
|
|
ARL3
|
|
|
ARSL
|
|
|
ARVCF
|
|
|
ATM
|
16799786 |
|
RERE
|
|
|
ATP2B1
|
15003327 |
|
ATP6V1A
|
|
|
ATP6V1B2
|
|
|
BBS1
|
|
|
BBS2
|
|
|
BCS1L
|
|
|
BDNF
|
|
|
BMP4
|
|
|
BRCA1
|
|
|
BRCA2
|
|
|
BUB1
|
|
|
BUB1B
|
|
|
C4A
|
|
|
CA4
|
|
|
CA8
|
|
|
CBS
|
|
|
CENPF
|
|
|
ERCC8
|
|
|
CLN3
|
|
|
CCR1
|
|
|
CNGB1
|
|
|
CNGA1
|
|
|
COL2A1
|
8317498 |
|
COL4A1
|
|
|
COL4A3
|
|
|
COL4A4
|
|
|
COL5A1
|
|
|
COL7A1
|
|
|
COL9A1
|
|
|
COL9A2
|
|
|
COL9A3
|
|
|
COL11A1
|
|
|
COMT
|
|
|
COX7B
|
|
|
CPT2
|
|
|
CREBBP
|
|
|
CRX
|
|
|
CRYAA
|
9467006 |
|
CRYAB
|
11577372 |
|
CRYBA4
|
|
|
CRYBB1
|
12360425 |
|
CRYBB2
|
|
|
CRYGC
|
10914683, 11773036 |
|
CRYGD
|
9927684, 30242128 |
|
CRYGS
|
16141006 |
|
VCAN
|
|
|
CYP27A1
|
|
|
DAG1
|
|
|
DDB2
|
|
|
DGUOK
|
|
|
DHCR7
|
27604308 |
|
DKC1
|
|
|
DMPK
|
|
|
DYNC1H1
|
|
|
DNMT1
|
|
|
DPAGT1
|
|
|
ELN
|
|
|
EP300
|
|
|
ERCC1
|
|
|
ERCC2
|
|
|
ERCC3
|
|
|
ERCC4
|
|
|
ERCC5
|
|
|
ERCC6
|
18628313 |
|
FANCA
|
|
|
FANCC
|
|
|
FANCD2
|
|
|
FANCE
|
|
|
BPTF
|
28942966 |
|
FANCB
|
|
|
FANCF
|
|
|
FANCG
|
|
|
FBN1
|
|
|
FKTN
|
|
|
FGF3
|
|
|
FGF5
|
|
|
FH
|
|
|
FOXC1
|
|
|
FOXE3
|
|
|
FOXC2
|
|
|
FLI1
|
|
|
FLNA
|
|
|
FLNB
|
|
|
FTL
|
|
|
KDSR
|
|
|
GABRD
|
|
|
B4GALNT1
|
|
|
GALK1
|
7670469 |
|
GALT
|
27604308 |
|
GFER
|
|
|
GJA1
|
|
|
GJA8
|
9497259 |
|
GJB3
|
|
|
GLA
|
|
|
GNAS
|
|
|
GP1BB
|
|
|
GSN
|
|
|
GTF2I
|
|
|
GUCA1B
|
|
|
GUCY2D
|
|
|
HARS1
|
|
|
HBB
|
|
|
HCCS
|
|
|
HLA-A
|
|
|
HLA-B
|
|
|
HLA-DRB1
|
|
|
HMX1
|
|
|
HNRNPA1
|
|
|
HNRNPA2B1
|
|
|
HSF4
|
|
|
HSPG2
|
|
|
IDH3A
|
|
|
IDH3B
|
|
|
RBPJ
|
|
|
IL10
|
|
|
IL12A
|
|
|
IMPDH1
|
|
|
KCNH1
|
|
|
KCNJ13
|
|
|
KIF11
|
|
|
KRT6A
|
|
|
KRT6B
|
|
|
KRT16
|
|
|
KRT17
|
|
|
KRT81
|
|
|
KRT83
|
|
|
KRT86
|
|
|
LIG4
|
|
|
LIM2
|
11917274 |
|
LIMK1
|
|
|
LMNA
|
|
|
LMX1B
|
|
|
LOXL1
|
|
|
LRP4
|
|
|
LRP5
|
|
|
LTBP2
|
|
|
SMAD4
|
|
|
MAF
|
|
|
MAK
|
|
|
MEFV
|
|
|
MIP
|
10802646 |
|
KMT2A
|
|
|
MMP1
|
|
|
ALDH6A1
|
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
ND1
|
|
|
ND4
|
|
|
ND5
|
|
|
ND6
|
|
|
TRNE
|
|
|
TRNF
|
|
|
TRNH
|
|
|
TRNK
|
|
|
TRNL1
|
|
|
TRNQ
|
|
|
TRNS1
|
|
|
TRNS2
|
|
|
TRNW
|
|
|
MVK
|
|
|
MYH9
|
22627578 |
|
MYO7A
|
|
|
NAGA
|
|
|
NDP
|
|
|
NEK2
|
|
|
NEU1
|
|
|
NF2
|
|
|
TONSL
|
|
|
NHS
|
|
|
NOTCH1
|
|
|
NOTCH2
|
|
|
NPHP1
|
|
|
NRL
|
|
|
OCRL
|
|
|
OPA1
|
|
|
SIX6
|
|
|
OTX2
|
|
|
PAH
|
|
|
PARN
|
|
|
PAX6
|
30221735 |
|
PCYT1A
|
|
|
PDE6A
|
|
|
PDE6G
|
|
|
PDE6B
|
|
|
PEX1
|
|
|
PEX6
|
|
|
PEX7
|
|
|
PEX10
|
|
|
PEX12
|
|
|
PEX13
|
|
|
PEX14
|
|
|
PHYH
|
|
|
PIK3CA
|
|
|
PIK3R1
|
|
|
PITX2
|
|
|
PITX3
|
9620774, 16565358 |
|
PMM2
|
|
|
POLG
|
|
|
PTCH1
|
|
|
PTEN
|
|
|
PTH
|
|
|
PTH1R
|
|
|
PEX19
|
|
|
PEX2
|
|
|
PEX5
|
|
|
ALDH18A1
|
|
|
RAD21
|
|
|
RAD51
|
|
|
RAD51C
|
|
|
RB1
|
|
|
RBP3
|
|
|
PRPH2
|
|
|
DPF2
|
|
|
RFC2
|
|
|
RGR
|
|
|
RHO
|
|
|
RLBP1
|
|
|
ROM1
|
|
|
RP9
|
|
|
RP1
|
|
|
RP2
|
|
|
RPGR
|
|
|
RPE65
|
|
|
RPS6KA3
|
|
|
RREB1
|
|
|
RS1
|
|
|
SAG
|
|
|
SALL1
|
|
|
SC5D
|
30097991 |
|
SDHB
|
|
|
SDHC
|
|
|
SDHD
|
|
|
SKI
|
|
|
SLC2A1
|
27604308 |
|
SLC19A1
|
|
|
SMARCA4
|
|
|
SMARCB1
|
|
|
SMARCC2
|
|
|
SMARCE1
|
|
|
SOX4
|
|
|
SOX11
|
|
|
STAT4
|
|
|
TBX1
|
|
|
TCOF1
|
|
|
TERC
|
|
|
TERT
|
|
|
TFAP2A
|
|
|
TGFBI
|
|
|
TLR4
|
|
|
TUB
|
|
|
TULP1
|
|
|
HIRA
|
|
|
UFD1
|
|
|
USH2A
|
|
|
CLRN1
|
|
|
VCP
|
|
|
VHL
|
|
|
VIM
|
19126778 |
|
VLDLR
|
|
|
BEST1
|
|
|
CLIP2
|
|
|
WNT3
|
|
|
WRN
|
|
|
WT1
|
|
|
XPA
|
|
|
XPC
|
|
|
XRCC2
|
|
|
CNBP
|
|
|
ALMS1
|
|
|
ALX1
|
|
|
IFT88
|
|
|
USP9X
|
|
|
SMC1A
|
|
|
NAA10
|
|
|
ARID1A
|
|
|
KLRC4
|
|
|
BFSP2
|
|
|
GNPAT
|
|
|
OFD1
|
|
|
PEX3
|
|
|
KCNAB2
|
|
|
IKBKG
|
|
|
CASK
|
|
|
PTCH2
|
|
|
SLC4A4
|
18614622 |
|
STX16
|
|
|
EED
|
|
|
PEX11B
|
|
|
PROM1
|
|
|
PLOD3
|
|
|
BAZ1B
|
|
|
USP8
|
|
|
SMC3
|
|
|
PRPF4
|
|
|
PRPF3
|
|
|
CTDP1
|
|
|
BUB3
|
|
|
SLC33A1
|
22243965 |
|
LARGE1
|
|
|
LRAT
|
|
|
GCM2
|
|
|
TRIP13
|
|
|
LONP1
|
|
|
RECQL4
|
|
|
PEX16
|
|
|
CYP7B1
|
|
|
POLR1C
|
|
|
GTF2IRD1
|
|
|
SEC24C
|
|
|
IQCB1
|
|
|
CEP57
|
|
|
IFT140
|
|
|
DHX38
|
|
|
ZEB2
|
|
|
FIG4
|
|
|
HNRNPDL
|
|
|
NR2E3
|
|
|
DNM1L
|
|
|
USH1C
|
|
|
PQBP1
|
|
|
LPAR6
|
|
|
SLC25A13
|
|
|
TOPORS
|
|
|
RXYLT1
|
|
|
YAP1
|
|
|
MAD2L2
|
|
|
MERTK
|
|
|
SEC23B
|
|
|
CIB2
|
|
|
POMT1
|
|
|
MAB21L2
|
|
|
PRPF8
|
|
|
EBP
|
|
|
TBR1
|
|
|
PLK4
|
|
|
GJB6
|
|
|
SDCCAG8
|
|
|
PNPLA6
|
|
|
B4GAT1
|
|
|
POLR3A
|
|
|
POLG2
|
|
|
RNF13
|
|
|
CEP164
|
|
|
ARSG
|
|
|
RAB3GAP1
|
|
|
RAB18
|
|
|
SNRNP200
|
|
|
PMPCA
|
|
|
VPS13A
|
|
|
RPGRIP1L
|
|
|
SMCHD1
|
|
|
ARHGEF18
|
|
|
CRB1
|
|
|
TDRD7
|
21436445 |
|
ARL2BP
|
|
|
AIPL1
|
|
|
PISD
|
30858161 |
|
PRPF6
|
|
|
RAB3GAP2
|
|
|
FSCN2
|
|
|
NIPBL
|
|
|
COG4
|
|
|
WHRN
|
|
|
TKFC
|
32004446 |
|
ABHD12
|
|
|
PRPF31
|
|
|
ZBTB20
|
|
|
TRAF3IP1
|
|
|
ABCA12
|
|
|
IFT172
|
|
|
INTS1
|
17544522 |
|
PTPN22
|
|
|
PHGDH
|
|
|
TINF2
|
|
|
TBL2
|
|
|
ELP4
|
|
|
NPHP3
|
|
|
B9D1
|
|
|
INVS
|
|
|
CPAMD8
|
29556725 |
|
HTRA2
|
|
|
FLVCR1
|
|
|
UBE2T
|
|
|
GMPPB
|
|
|
POMT2
|
|
|
PSAT1
|
|
|
SLC40A1
|
|
|
SCAPER
|
|
|
RRM2B
|
|
|
GEMIN4
|
|
|
IMPG2
|
|
|
WDPCP
|
|
|
POLR1D
|
|
|
TMEM216
|
|
|
DACT1
|
|
|
SUFU
|
|
|
RTEL1
|
|
|
ERAP1
|
|
|
ATP8A2
|
|
|
INPP5K
|
|
|
ADAMTSL4
|
|
|
NDUFB11
|
|
|
DLL4
|
|
|
CNGB3
|
|
|
TRIM44
|
|
|
AHI1
|
|
|
BCOR
|
|
|
NSUN2
|
|
|
MKS1
|
|
|
DYNC2I1
|
|
|
FANCL
|
|
|
ANO10
|
|
|
WRAP53
|
|
|
RFWD3
|
|
|
CEP55
|
|
|
SETD5
|
|
|
ATAD3A
|
|
|
P3H2
|
|
|
FANCI
|
|
|
NOP10
|
|
|
POMGNT1
|
|
|
NHP2
|
|
|
PEX26
|
|
|
VAC14
|
|
|
IARS2
|
25130867 |
|
AGK
|
|
|
SPATA7
|
|
|
KIZ
|
|
|
HDAC8
|
|
|
KLHL7
|
|
|
BTNL2
|
|
|
INPP5E
|
|
|
TWNK
|
|
|
RPGRIP1
|
|
|
SALL4
|
|
|
NDRG2
|
22043305 |
|
TBC1D24
|
|
|
SHROOM4
|
|
|
ARID1B
|
|
|
ARHGAP31
|
|
|
WDR35
|
|
|
CC2D2A
|
|
|
IFT80
|
|
|
DOCK6
|
|
|
KIAA1549
|
|
|
FANCM
|
|
|
GBA2
|
|
|
SLC7A14
|
|
|
EPG5
|
|
|
WDR19
|
|
|
TRPV4
|
|
|
AGBL5
|
|
|
TRAPPC11
|
|
|
ZNF335
|
|
|
PRDM16
|
|
|
CDH23
|
|
|
NOD2
|
|
|
XYLT2
|
|
|
SEMA4A
|
|
|
SIL1
|
|
|
NMNAT1
|
|
|
PCDH15
|
|
|
ALG8
|
|
|
CCDC28B
|
|
|
FKRP
|
|
|
FYCO1
|
|
|
TMEM231
|
|
|
SRD5A3
|
|
|
USB1
|
|
|
DYNC2H1
|
|
|
PALB2
|
|
|
ZNF408
|
|
|
CSPP1
|
|
|
TCTN2
|
|
|
UBA5
|
|
|
DHDDS
|
|
|
PDZD7
|
|
|
CTC1
|
|
|
CEP290
|
|
|
OPA3
|
|
|
B9D2
|
|
|
COL18A1
|
|
|
CLPB
|
|
|
ADAMTS10
|
|
|
MED25
|
|
|
JAM3
|
|
|
BRIP1
|
|
|
ADGRV1
|
|
|
ARL6
|
|
|
CEP78
|
|
|
FAM161A
|
|
|
KIAA1109
|
|
|
FAR1
|
|
|
POMK
|
|
|
PHF6
|
|
|
TMEM107
|
|
|
SLX4
|
|
|
LOXL3
|
|
|
POMGNT2
|
|
|
WDR73
|
|
|
USP45
|
|
|
ALG2
|
|
|
TUBGCP6
|
|
|
PNPT1
|
|
|
DYNC2I2
|
|
|
TMEM67
|
|
|
NEK9
|
|
|
CHRDL1
|
|
|
CDHR1
|
|
|
BBIP1
|
|
|
REEP6
|
|
|
KRT71
|
|
|
NACC1
|
|
|
KRT74
|
|
|
TTC8
|
|
|
USH1G
|
|
|
WDR81
|
|
|
GJB4
|
|
|
TBC1D20
|
|
|
ZNF513
|
|
|
HGSNAT
|
|
|
AMER1
|
|
|
B3GLCT
|
|
|
RDH12
|
|
|
KRT25
|
|
|
DSG4
|
|
|
B3GALNT2
|
|
|
IL23R
|
|
|
ESCO2
|
|
|
CFAP418
|
|
|
LCA5
|
|
|
ARID2
|
|
|
LIPH
|
|
|
ATOH7
|
|
|
JMJD1C
|
|
|
NPHP4
|
|
|
KCTD1
|
|
|
EOGT
|
|
|
SUMF1
|
|
|
UBAC2
|
|
|
VSX2
|
|
|
RSPO2
|
|
|
RD3
|
|
|
EYS
|
|
|
TUBB2B
|
|
|
CERKL
|
|
|
SLC16A12
|
|
|
PCARE
|
|
|
GDF6
|
|
|
GTF2H5
|
|
|
MIR221
|
30926320 |
|
CRPPA
|
|
|
PRCD
|
|
|
KLLN
|
|
|
IL12A-AS1
|
|
| Pseudoaphakia |
C0524524 |
ALDH3A1
|
28038895 |
|
AKR1B1
|
28137510, 21329682, 25541468, 21376710 |
|
ATM
|
16799786 |
|
ATP2B1
|
15003327 |
|
COL2A1
|
8317498 |
|
CRYAA
|
9467006 |
|
CRYAB
|
11577372 |
|
CRYBB1
|
12360425 |
|
CRYGC
|
10914683, 11773036 |
|
CRYGD
|
9927684, 30242128 |
|
CRYGS
|
16141006 |
|
ERCC6
|
18628313 |
|
GALK1
|
7670469 |
|
GJA8
|
9497259 |
|
LIM2
|
11917274 |
|
MIP
|
10802646 |
|
PAX6
|
30221735 |
|
PITX3
|
16565358, 9620774 |
|
VIM
|
19126778 |
|
SLC4A4
|
18614622 |
|
SLC33A1
|
22243965 |
|
TDRD7
|
21436445 |
|
NDRG2
|
22043305 |
|
MIR221
|
30926320 |
| Cortical, lamellar, or zonular nonsenile cataract |
C0154974 |
BFSP1
|
|
|
MIP
|
|
| Embryonal nuclear cataract (disorder) |
C0158551 |
BFSP1
|
|
|
CFAP410
|
|
|
CRYBB1
|
|
|
CRYBB3
|
|
|
CRYGC
|
|
|
FTL
|
|
|
GJA8
|
|
|
HSF4
|
|
|
MIP
|
|
|
NHS
|
|
|
WFS1
|
|
|
CHMP4B
|
|
| Nuclear cataract |
C0392557 |
BFSP1
|
24379646 |
|
CFAP410
|
|
|
CRYAA
|
24074001, 24384146, 19390652 |
|
CRYAB
|
19597569, 24384146, 26622071 |
|
CRYBA1
|
24384146, 21686330 |
|
CRYBA2
|
23508780 |
|
CRYBB1
|
18432316, 17460281, 24384146 |
|
CRYBB2
|
24384146, 19649175 |
|
CRYBB3
|
15914629, 23508780 |
|
CRYGC
|
24384146, 18618005 |
|
CRYGD
|
21031598, 26147294, 24384146 |
|
EPHA2
|
24014202 |
|
FTL
|
|
|
GJA3
|
16234473, 21552498, 20431721 |
|
GJA8
|
24384146, 14627691 |
|
HSF4
|
|
|
MIP
|
24384146, 21245956, 21647270 |
|
NHS
|
24968223, 19414485, 24384146 |
|
WFS1
|
23531866 |
|
SCAPER
|
|
|
FYCO1
|
21636066, 24384146 |
|
CHMP4B
|
|
|
UNC45B
|
24549050 |
| Nuclear non-senile cataract |
C1112705 |
BFSP1
|
24379646 |
|
CFAP410
|
|
|
CRYAA
|
19390652, 24384146, 24074001 |
|
CRYAB
|
24384146, 19597569, 26622071 |
|
CRYBA1
|
24384146, 21686330 |
|
CRYBA2
|
23508780 |
|
CRYBB1
|
18432316, 17460281, 24384146 |
|
CRYBB2
|
24384146, 19649175 |
|
CRYBB3
|
23508780, 15914629 |
|
CRYGC
|
18618005, 24384146 |
|
CRYGD
|
26147294, 24384146, 21031598 |
|
EPHA2
|
24014202 |
|
FTL
|
|
|
GJA3
|
20431721, 21552498, 16234473 |
|
GJA8
|
24384146, 14627691 |
|
HSF4
|
|
|
MIP
|
21647270, 24384146, 21245956 |
|
NHS
|
19414485, 24968223, 24384146 |
|
WFS1
|
23531866 |
|
FYCO1
|
24384146, 21636066 |
|
CHMP4B
|
|
|
UNC45B
|
24549050 |
| CATARACT, MARNER TYPE |
C1861821 |
BFSP1
|
|
|
CRYBA4
|
|
|
GJA3
|
|
|
GNA11
|
|
|
GNAQ
|
|
|
HSF4
|
|
|
MIP
|
|
|
SLC2A1
|
|
|
BAP1
|
|
|
RECQL4
|
|
|
SF3B1
|
|
|
CYSLTR2
|
|
| CATARACT 33, MULTIPLE TYPES |
C3808107 |
BFSP1
|
24379646, 28450710, 17225135 |
| CATARACT, ANTERIOR POLAR |
C1855179 |
COL4A3
|
|
|
CRYAA
|
22065922 |
|
CRYBA2
|
23508780 |
|
CRYBB3
|
23508780 |
|
CRYGB
|
23288985 |
|
HSF4
|
|
| CATARACT, AUTOSOMAL DOMINANT |
C1858679 |
CRYAA
|
14512969, 20079887, 17296897, 11123904, 22045060, 23508780, 18085469, 18302245, 9467006, 16453125, 18407550, 10684623, 22216983, 19182255, 22347476, 22140512, 17724170, 16735993, 19503744 |
|
CRYGC
|
10914683 |
|
CRYGD
|
9927684 |
|
PITX3
|
15286169 |
| Cataract, Autosomal Recessive Congenital 1 |
C3888098 |
CRYAA
|
|
| CATARACT 16, MULTIPLE TYPES |
C3808377 |
CRYAB
|
21337604, 11577372 |
| Cataract, Central Saccular, With Sutural Opacities |
C1854021 |
CRYBA1
|
9788845 |
|
CRYBB2
|
11424921 |
|
CRYGS
|
16141006, 18587492 |
|
GJA8
|
18587493 |
|
MIP
|
24405844, 20361015 |
|
BFSP2
|
17200662 |
| CATARACT 42 |
C4011454 |
CRYBA2
|
23508780 |
| CATARACT 23, MULTIPLE TYPES |
C3808012 |
CRYBA4
|
16960806, 20577656 |
| Cataract, Pulverulent |
C1833118 |
CRYBB1
|
12360425, 22267527, 19461930 |
|
CRYBB2
|
10634616 |
|
CRYGC
|
23954869, 10914683 |
|
CRYGD
|
21866214 |
|
GJA3
|
22876138 |
|
GJA8
|
18006672 |
|
HSF4
|
|
|
MAF
|
12642301, 11772997 |
|
VIM
|
19126778 |
|
BEST1
|
|
|
BFSP2
|
24654948 |
| CATARACT, COPPOCK-LIKE |
C1852438 |
CRYBB1
|
19461930, 22267527, 12360425 |
|
CRYBB2
|
10634616 |
|
CRYGC
|
28298635, 19204787, 10914683, 23954869 |
|
CRYGD
|
21866214 |
|
GJA3
|
22876138 |
|
GJA8
|
18006672 |
|
MAF
|
11772997, 12642301 |
|
VIM
|
19126778 |
|
BFSP2
|
24654948 |
| CATARACT 17, MULTIPLE TYPES |
C3888124 |
CRYBB1
|
23508780, 12360425, 29386872, 17460281 |
| Cataract, congenital, cerulean type 1 |
C0344523 |
CRYBB2
|
9158139, 19321936 |
|
CRYGD
|
12676897 |
|
MAF
|
16470690 |
|
MIP
|
21850180 |
|
OPA3
|
|
| Cataract, Congenital, Cerulean Type, 2 |
C1832175 |
CRYBB2
|
29386872, 24704203, 24120835, 8812489 |
| CATARACT 2, MULTIPLE TYPES |
C4721890 |
CRYBB2
|
8812489 |
|
CRYGC
|
10914683, 22052681, 18587492, 22876111, 10521291, 12011157, 12601044, 24281366 |
| CATARACT 39, MULTIPLE TYPES |
C3808800 |
CRYGB
|
21941057 |
| CATARACT 4, MULTIPLE TYPES |
C3540850 |
CRYGD
|
12676897, 10688888, 11371638, 10521291, 12011157, 9927684, 17564961, 15709761, 21031598, 16943771, 10915766 |
| CATARACT 20, MULTIPLE TYPES |
C3805410 |
CRYGS
|
16141006 |
| CATARACT 32, MULTIPLE TYPES |
C3887926 |
CTNNB1
|
27915094, 2614104, 24668549 |
| CATARACT, POSTERIOR POLAR, 1 |
C1861825 |
EPHA2
|
19306328, 22570727, 19005574, 19649315, 24014202 |
| Cataract, Autosomal Recessive Congenital 3 |
C2751822 |
FOXE3
|
27218149 |
| CATARACT 13 WITH ADULT i PHENOTYPE |
C3805373 |
GCNT2
|
11739194 |
| Cataract, Zonular Pulverulent 3 |
C1866078 |
GJA3
|
20431721, 21681855, 15286166, 16971895, 21552498, 24772942, 26683566, 16254549, 22312188, 15448617, 15208569, 25635993, 21647269, 14627959, 30044662, 10746562, 16234473, 10205266, 17893674, 17615540, 21897748, 16885921 |
| Cataract, Zonular Pulverulent 1 |
C1861828 |
GJA8
|
26694549, 11846744, 23508780, 18006672, 18334946, 21174522, 9497259, 16604058, 16234473, 21228318, 14627691, 21921990, 25003127, 10480374 |
| CATARACT 5, MULTIPLE TYPES |
C3888417 |
HSF4
|
12089525, 16876512, 24045990 |
|
COG4
|
|
|
NACC1
|
|
| CATARACT 19, MULTIPLE TYPES |
C3809004 |
LIM2
|
11917274 |
| CATARACT 44 |
C4225300 |
LSS
|
26200341, 26200641, 29016354 |
| CATARACT 21, MULTIPLE TYPES |
C3888097 |
MAF
|
11772997, 17982426, 16470690, 24664492 |
| CATARACT 15, MULTIPLE TYPES |
C3809001 |
MIP
|
16564824, 17893667, 25946197, 17960133, 24120416, 20361015, 21245956, 10802646, 11001937, 23116563 |
| CATARACT 40 |
C4049004 |
NHS
|
11836358, 23566852 |
| CATARACT, POSTERIOR POLAR, 4 (disorder) |
C1864567 |
PITX3
|
15286169, 17888164, 9620774, 24555714, 20033184 |
| Polar cataract |
C2025392 |
PEX5
|
|
| CATARACT 30 |
C3805411 |
VIM
|
24142690, 26694549, 28450710, 19126778 |
|
VIM-AS1
|
|
| Diffuse nuclear cataract |
C4024821 |
VIM
|
|
| CATARACT 41 |
C3805412 |
WFS1
|
27185633, 27468121, 23531866 |
| Cataract, Autosomal Dominant, Multiple Types 1 |
C1969032 |
BFSP2
|
|
| CATARACT 12, MULTIPLE TYPES |
C3808115 |
BFSP2
|
15570218, 10729115, 10739768 |
|
BFSP2-AS1
|
|
| Progressive cataract |
C4021566 |
BFSP2
|
|
| CATARACT 45 |
C4225182 |
SIPA1L3
|
|
| CATARACT 36 |
C3151304 |
TDRD7
|
24435515 |
| CATARACT 38 |
C3553494 |
AGK
|
27604308 |
| Cataract, autosomal recessive congenital 2 |
C1864908 |
FYCO1
|
11519376, 21636066 |
| Cataract, posterior polar, 3 |
C1854311 |
CHMP4B
|
17701905 |
| CATARACT 43 |
C4225389 |
UNC45B
|
24549050 |
| CATARACT 46, JUVENILE-ONSET |
C0220721 |
LEMD2
|
26788539 |
| CATARACT 47 |
C4310806 |
SLC16A12
|
18304496, 20181839 |
| Early-onset posterior subcapsular cataract |
441447 |
LEMD2
|
|
|
CRYBB2
|
|
|
CHMP4B
|
|
|
EPHA2
|
|
|
UNC45B
|
|
| Early-onset lamellar cataract |
441452 |
BFSP2
|
|
|
CRYAA
|
|
|
CRYAB
|
|
|
CRYBA1
|
|
|
CRYBA4
|
|
|
CRYGC
|
|
|
CRYGD
|
|
|
HSF4
|
|
|
MIP
|
|
|
CRYGS
|
|
|
CRYGB
|
|
| Early-onset anterior polar cataract |
98988 |
CRYAA
|
|
|
CRYBB3
|
|
|
CRYGB
|
|
|
CRYBA2
|
|
| Cerulean cataract |
98989 |
CRYBB2
|
|
|
CRYGD
|
|
|
MIP
|
|
|
MAF
|
|
| Early-onset sutural cataract |
98985 |
BFSP2
|
|
|
CRYBA1
|
|
|
CRYBB2
|
|
|
GJA8
|
|
|
MIP
|
|
|
CRYGS
|
|
| Early-onset nuclear cataract |
98991 |
WFS1
|
|
|
CRYAA
|
|
|
CRYAB
|
|
|
CRYBA1
|
|
|
CRYBB2
|
|
|
CRYBB3
|
|
|
CRYGC
|
|
|
CRYGD
|
|
|
GJA3
|
|
|
GJA8
|
|
|
MIP
|
|
|
CRYBB1
|
|
|
NHS
|
|
|
BFSP1
|
|
|
EPHA2
|
|
|
FYCO1
|
|
|
UNC45B
|
|
|
CRYBA2
|
|
| Total early-onset cataract |
98994 |
CRYAA
|
|
|
CRYBB2
|
|
|
GJA8
|
|
|
HSF4
|
|
|
MIP
|
|
|
NHS
|
|
|
LIM2
|
|
|
EPHA2
|
|
|
FYCO1
|
|
|
AGK
|
|
|
CRYGB
|
|
|
GCNT2
|
|
|
LSS
|
|
|
LEMD2
|
|
|
DNMBP
|
|
|
SIPA1L3
|
|
| Early-onset posterior polar cataract |
98993 |
PITX3
|
|
|
CRYAB
|
|
|
CRYBA1
|
|
|
GJA3
|
|
|
MIP
|
|
|
CHMP4B
|
|
|
EPHA2
|
|
|
PANK4
|
|
