| UMLS CUI |
UMLS Term |
Proteins |
|
C0003076
|
Aniridia
|
ELP4
|
|
C0003081
|
Anisometropia
|
PTEN
|
|
C0004943
|
Behcet Syndrome
|
HLA-B,
APOA1,
APOB,
ICAM1,
CXCL8,
IL10,
IL12A,
ITGB2,
SERPINE1,
ERAP1,
TLR4,
C4A,
KLRC4
|
|
C0008525
|
Choroideremia
|
CHM
|
|
C0009363
|
Congenital Ocular Coloboma (Disorder)
|
ABCB6,
YAP1,
LAMB1,
ALDH7A1,
ACTB,
SALL2,
ACTG1
|
|
C0009398
|
Color Vision Defect
|
ATF6
|
|
C0009759
|
Conjunctival Diseases
|
DAPK1
|
|
C0010034
|
Corneal Diseases
|
IGF1
|
|
C0010038
|
Corneal Opacity
|
JAG1,
SLC4A4
|
|
C0010043
|
Corneal Ulcer
|
NGF,
SERPINF1
|
|
C0011884
|
Diabetic Retinopathy
|
CRP,
AGT,
AGTR1,
ICAM1,
PON1,
RBFOX1,
ARHGAP22,
THBS1,
VEGFA,
PLXDC2
|
|
C0013238
|
Dry Eye Syndromes
|
TGFB1
|
|
C0013261
|
Duane Retraction Syndrome
|
CHN1
|
|
C0013581
|
Ectopia Lentis
|
FBN1,
ADAMTSL4
|
|
C0015393
|
Eye Abnormalities
|
JAG1,
SH3PXD2B,
APC,
NDST1,
IFT122,
BMPR1A,
TGFB2,
TGFBR2
|
|
C0015397
|
Disorder Of Eye
|
POMC
|
|
C0015398
|
Eye Diseases, Hereditary
|
PLK4,
LRP2,
INPP5E
|
|
C0015404
|
Eye Infections, Bacterial
|
CXCL8,
TLR2
|
|
C0017601
|
Glaucoma
|
CDKN2B,
COL11A1,
ELP4,
GMDS,
LOXL1,
MYLK,
DERA,
PMM2,
RBFOX1,
TGFB2,
SLC4A4
|
|
C0017605
|
Angle Closure Glaucoma
|
COL11A1
|
|
C0017612
|
Glaucoma, Open-Angle
|
TMCO1,
PTGS2,
CAV1,
CAV2
|
|
C0018213
|
Graves Disease
|
B3GNT2,
ABCF1,
PTPN22,
GC,
HLA-J,
ITPR3,
ZNRD1ASP,
ARID5B,
RNASET2
|
|
C0020302
|
Hydrophthalmos
|
CYP1B1
|
|
C0020490
|
Hyperopia
|
LAMA2,
RBFOX1
|
|
C0022541
|
Kearns-Sayre Syndrome
|
IL1A,
IL1B
|
|
C0022568
|
Keratitis
|
CXCL8,
TLR2
|
|
C0022578
|
Keratoconus
|
FOXO1,
FNDC3B
|
|
C0023308
|
Lens Diseases
|
SIAH2
|
|
C0024439
|
Macular Corneal Dystrophy
|
CHST6
|
|
C0027092
|
Myopia
|
TACC2,
COL9A1,
DHX15,
GRIA4,
LAMA2,
MIR100HG,
MIPEP,
DENND1A,
PTPRD,
CLSTN2,
BMP2,
BMP6,
SNTB1,
SPTBN1,
SRPK2,
ZEB2
|
|
C0028840
|
Ocular Hypertension
|
DDIT3,
NR3C1,
MMP1
|
|
C0029089
|
Ophthalmoplegia
|
NPC1,
MGME1
|
|
C0030804
|
Pemphigoid, Benign Mucous Membrane
|
PTGER3
|
|
C0034951
|
Refractive Errors
|
GRIA4,
SHISA6,
LAMA2,
MYO1D,
PCCA,
RBFOX1,
RORB,
ACTC1,
TJP2
|
|
C0035304
|
Retinal Degeneration
|
AHI1,
BCL2,
RPGR
|
|
C0035305
|
Retinal Detachment
|
CRB1,
HP,
CASP9,
AIFM1
|
|
C0035309
|
Retinal Diseases
|
OCLN,
SDCCAG8,
COL9A1,
HMOX1,
ICAM1,
MMP9,
MTNR1A,
PDGFB,
PKD2,
PTPRC,
TNF,
VEGFA,
VIM,
FZD4
|
|
C0035328
|
Retinal Vein Occlusion
|
F5,
ITGA2,
VEGFA
|
|
C0035334
|
Retinitis Pigmentosa
|
MERTK,
TTC8,
CNGA1,
ZNF513,
HGSNAT,
ATF6,
CRB1,
PRPF31,
GUCA1B,
GUCY2D,
IDH3B,
EYS,
CERKL,
MAK,
NEK2,
SPATA7,
KIZ,
KLHL7,
BBS2,
RP9,
RP2,
RPGR,
SEMA4A,
BEST1,
CA4,
PANK2,
FAM161A,
OFD1,
UNC119,
PRPF3
|
|
C0035335
|
Retinoblastoma
|
RB1
|
|
C0035344
|
Retinopathy Of Prematurity
|
AGT,
LRP5,
NDP,
FZD4
|
|
C0038379
|
Strabismus
|
SPG20
|
|
C0038868
|
Progressive Supranuclear Palsy
|
STX6,
MAPT
|
|
C0042164
|
Uveitis
|
ALB,
SERPINF1,
SOD2,
CALB2
|
|
C0042790
|
Vision Disorders
|
CLN6
|
|
C0043207
|
Wolfram Syndrome
|
CISD2
|
|
C0078918
|
Albinism, Oculocutaneous
|
MITF,
TYR
|
|
C0085109
|
Corneal Neovascularization
|
FGF2,
VEGFA
|
|
C0085636
|
Photophobia
|
ATF6
|
|
C0086543
|
Cataract
|
CRYAB,
AKR1B1,
MIP,
ATP2B1,
NDRG2,
VIM,
SLC4A4,
SLC33A1
|
|
C0151827
|
Eye Pain
|
POMC
|
|
C0152200
|
Achromatopsia
|
ATF6,
RPGR
|
|
C0154832
|
Exudative Retinopathy
|
CRB1,
NDP
|
|
C0155017
|
Color Blindness, Blue
|
OPN1SW
|
|
C0162674
|
Chronic Progressive External Ophthalmoplegia
|
IL1A,
IL1B,
POLG,
SOD2
|
|
C0206115
|
Wagr Syndrome
|
BDNF,
WT1
|
|
C0206368
|
Exfoliation Syndrome
|
LOXL1
|
|
C0242383
|
Age Related Macular Degeneration
|
TOMM40,
COL10A1,
CFH,
APOC1,
CFI,
APOE,
HTRA1,
RPGR,
CFB,
TGFBR1,
TLR4,
TNXB,
C3,
VEGFA,
PLA2G12A,
SQSTM1
|
|
C0242852
|
Proliferative Vitreoretinopathy
|
LRP5,
CAPN5
|
|
C0265221
|
Walker-Warburg Congenital Muscular Dystrophy
|
POMT1,
B4GAT1,
DAG1,
FKRP,
POMK,
POMGNT2,
LARGE
|
|
C0265233
|
Cryptophthalmos Syndrome
|
FRAS1
|
|
C0265313
|
Weill-Marchesani Syndrome
|
FBN1,
ADAMTS10
|
|
C0266568
|
Persistent Hyperplastic Primary Vitreous
|
NDP,
FZD4
|
|
C0271051
|
Macular Retinal Edema
|
VEGFA
|
|
C0338508
|
Optic Atrophy, Autosomal Dominant
|
OPA1
|
|
C0339143
|
Thyroid Associated Opthalmopathies
|
PTGS2,
SCD
|
|
C0339277
|
Corneal Dystrophy, Juvenile Epithelial Of Meesmann
|
KRT3
|
|
C0339510
|
Vitelliform Macular Dystrophy
|
BEST1
|
|
C0339527
|
Leber Congenital Amaurosis
|
CRB1,
GUCY2D,
SPATA7
|
|
C0393626
|
Opsoclonus-Myoclonus Syndrome
|
POMC
|
|
C0457133
|
Muscle Eye Brain Disease
|
POMT1,
GMPPB,
FKRP,
LARGE
|
|
C0600518
|
Choroidal Neovascularization
|
VEGFA
|
|
C0700501
|
Congenital Nystagmus
|
AHR,
ATF6
|
|
C0751083
|
Duane Retraction Syndrome, Type 2
|
CHN1
|
|
C0854723
|
Retinal Dystrophies
|
DRAM2,
RPGR
|
|
C0917796
|
Optic Atrophy, Hereditary, Leber
|
IL1A,
IL1B
|
|
C1527336
|
Sjogren'S Syndrome
|
IRAK1BP1,
FCGR2A,
GTF2I,
IL12A,
ITSN2,
PHIP,
TNFAIP3,
PTTG1
|
|
C1568248
|
Usher Syndrome, Type Iii
|
HARS
|
|
C1836373
|
Muscular Dystrophy, Limb-Girdle, Type 2K
|
POMT1
|
|
C1869114
|
Weill-Marchesani Syndrome, Autosomal Recessive
|
ADAMTS10
|
|
C1869115
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
FBN1
|