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: C0339512
Disease: Bull's eye macular dystrophy
Bull's eye macular dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 1 1 0.700 5 1 1999 2014
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 4 0.600 7 4 1999 2016
CUI: C2677516
Disease: RETINITIS PIGMENTOSA 41 (disorder)
RETINITIS PIGMENTOSA 41 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 6 0.600 6 6 2000 2015
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4
disease Eye Diseases Disease or Syndrome 3 1 0.600 5 1 1999 2014
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 409 311 0.490 1.000 10 2 2008 2017
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
disease Mental Disorders Mental or Behavioral Dysfunction 516 378 0.410 1.000 2 1 2009 2015
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 1936 180 0.400 0.974 79 2006 2018
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.400 0.909 34 2008 2017
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2000 135 0.400 1.000 33 2007 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2931 539 0.400 0.906 33 2008 2017
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 853 42 0.400 1.000 21 2008 2016
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 777 24 0.350 0.500 6 2007 2013
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1072 226 0.340 1.000 5 2008 2017
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 512 210 0.310 1.000 1 2009 2009
CUI: C0334588
Disease: Giant Cell Glioblastoma
Giant Cell Glioblastoma
disease Neoplasms Neoplastic Process 77 1 0.300 3 2008 2010
CUI: C0153567
Disease: Uterine Cancer
Uterine Cancer
disease Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 63 4 0.300 1 2012 2012
CUI: C0042138
Disease: Uterine Neoplasms
Uterine Neoplasms
group Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 23 0.300 1 2012 2012
CUI: C0206627
Disease: Mixed Tumor, Mullerian
Mixed Tumor, Mullerian
disease Neoplasms Neoplastic Process 10 0.300 1 2012 2012
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
disease Eye Diseases Disease or Syndrome 13 292 0.300 0
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 146 2 0.300 strong 0
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
phenotype Eye Diseases Disease or Syndrome 6 179 0.300 0
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1506 440 0.200 1 2001 2001
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group Disease or Syndrome 39 0.200 1 2009 2009
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease Disease or Syndrome 36 21 0.140 1.000 4 1 2010 2018
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 52 12 0.130 1.000 3 2011 2016