Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0152253
Disease: Posterior synechiae
Posterior synechiae 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.100 None 0
CUI: C0152252
Disease: Anterior synechiae
Anterior synechiae 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 7 0.100 None 0
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 43 2 0.100 None 0
CUI: C0035302
Disease: Retinal Artery Occlusion
Retinal Artery Occlusion 		disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 9 1 0.100 None 0
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 46 10 0.100 None 0
CUI: C4477011
Disease: Thinning of Descemet membrane
Thinning of Descemet membrane 		phenotype Finding 5 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		group Eye Diseases; Nervous System Diseases Disease or Syndrome 112 2 0.100 None 0
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		disease Eye Diseases Disease or Syndrome 148 10 0.100 None 0
CUI: C4310623
Disease: ANTERIOR SEGMENT DYSGENESIS 6
ANTERIOR SEGMENT DYSGENESIS 6 		disease Disease or Syndrome 2 2 0.100 None 0 2
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease Eye Diseases Disease or Syndrome 184 116 0.100 None 0 2
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.400 None 0.964 28 6 1977 2018
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.100 None 0.963 27 6 1977 2018
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.100 None 0.963 27 6 1977 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.100 None 0.976 41 8 1979 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.100 None 0.973 37 8 1979 2020
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.020 None 1.000 2 1979 2017
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 24 25 0.500 strong 0.979 97 14 1995 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.400 None 0.875 72 8 1995 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.400 None 0.875 72 8 1995 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.973 37 3 1995 2019
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 60 11 0.500 None 1.000 29 6 1995 2019
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.400 None 1.000 16 1995 2009
CUI: C4551507
Disease: Buphthalmos
Buphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 3 1 0.030 None 1.000 3 1 1995 2010
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		disease Eye Diseases Disease or Syndrome 30 15 0.450 None 1.000 35 12 1997 2017