Congenital cataract

Disease Term Disease ID Gene Symbol References
Cataract, Congenital Nuclear, Autosomal Recessive 2 C1857853 CRYBB3 15914629, 23508780
Cataract, Congenital Nuclear, Autosomal Recessive 3 C1969062 CRYBB1
Cataract, Congenital Zonular, with Sutural Opacities C1833229 CRYBA1 21850182, 20142846, 9788845, 22919269, 14598164, 26303524
Cataract, total congenital with posterior sutural opacities in Heterozygotes C4049005 NHS
Congenital cataract C0009691 COL4A1
CRYAA 26694549
CRYAB 26694549
CRYBB1 26694549
CRYBB2 26694549
CRYBB3 26694549
CRYGA
CRYGC 26694549
CRYGD 26694549
CRYGS
CYP27A1
GCNT2
GJA3 26694549
GJA8 26694549
LIM2
MAF 26694549
MIP 26694549
MIPEP 27799064
NHS 26694549
PAX6 29178648, 26694549
PSMC3
PEX5 26220973
VIM 26694549
PEX11B
RAB3GAP1
TDRD7 24435515
NECTIN3
SMARCAL1
GEMIN4
BCOR 26694549
AGK
PRX 27081207
FYCO1
ZRANB3
PHF6
TUBB
VIM-AS1 26694549
Congenital lamellar cataract C0266537 BFSP1
CRYBA4
GJA3
GNA11
GNAQ
HSF4
MIP
SLC2A1
BAP1
RECQL4
SF3B1
CYSLTR2
Congenital total cataract C0266539 CRYAA 16862070
CRYBB2 21031021
CRYGB 23288985
EPHA2 19306328
GCNT2 26622071, 21761136
GJA8 17601931
HSF4 15277496, 16876512
LIM2 18596884
LSS
MIP 17893667
NHS
SIPA1L3 25804400
DNMBP 30290152
AGK 22415731, 26622071
FYCO1 26622071
LEMD2 26788539