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: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.100 None 0.923 13 2004 2020
CUI: C2750747
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 19 0.600 None 1.000 5 19 2009 2016
CUI: C4048798
Disease: Complete congenital stationary night blindness
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: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.030 None 1.000 3 1 2010 2020
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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.110 None 0.500 2 1 2011 2018
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: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2010 2010
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.110 None 1.000 1 1 2017 2017
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: 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: C0422943
Disease: Visual symptoms
Visual symptoms 		phenotype Sign or Symptom 17 5 0.010 None 1.000 1 2019 2019
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: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		phenotype Laboratory Procedure 433 3282 0.100 None 1.000 1 1 2012 2012
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: 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: 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: C1720983
Disease: Channelopathies
Channelopathies 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 8 0.010 None 1.000 1 2018 2018
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
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