| 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 |