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: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.100 None 0.923 13 2004 2020
Complete congenital stationary night blindness
disease Congenital Abnormality 6 0.040 None 1.000 4 2009 2017
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.040 None 1.000 4 2004 2019
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 45 1 0.030 None 1.000 3 2011 2019
CUI: C3665593
Disease: Melanocytic nevus of skin
Melanocytic nevus of skin
disease Neoplasms Neoplastic Process 103 3 0.020 None 1.000 2 2010 2017
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus
disease Neoplasms Neoplastic Process 297 33 0.020 None 1.000 2 2010 2017
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85 0.010 None 1.000 1 2013 2013
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 31 6 0.010 None 1.000 1 2010 2010
CUI: C1720983
Disease: Channelopathies
Channelopathies
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 8 0.010 None 1.000 1 2018 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2004 2004
CUI: C0085662
Disease: Macrocytosis
Macrocytosis
disease Disease or Syndrome 13 0.010 None 1.000 1 2011 2011
CUI: C0344315
Disease: Depressed mood
Depressed mood
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2018 2018
CUI: C0346041
Disease: Tumor of dermis
Tumor of dermis
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2 0.010 None 1.000 1 2009 2009
CUI: C0422943
Disease: Visual symptoms
Visual symptoms
phenotype Sign or Symptom 17 5 0.010 None 1.000 1 2019 2019
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
disease Skin and Connective Tissue Diseases Disease or Syndrome 302 92 0.010 None 1.000 1 2017 2017
CUI: C0549567
Disease: Pigmentation Disorders
Pigmentation Disorders
group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 16 0.010 None 1.000 1 2009 2009
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2019 2019
CUI: C1321315
Disease: Paraneoplastic retinopathy
Paraneoplastic retinopathy
disease Neoplasms; Eye Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C1449744
Disease: Myopia, Progressive
Myopia, Progressive
disease Eye Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C1704421
Disease: Skin Pigmentation Disorder
Skin Pigmentation Disorder
group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 21 0.010 None 1.000 1 2009 2009
CUI: C0042900
Disease: Vitiligo
Vitiligo
disease Skin and Connective Tissue Diseases Disease or Syndrome 395 249 0.010 None 1.000 1 2017 2017
CUI: C0042798
Disease: Low Vision
Low Vision
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 157 51 0.010 None 1.000 1 2014 2014
CUI: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.110 None 1.000 1 2018 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2010 2010
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.010 None 1.000 1 1998 1998