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: C4015038
Disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC 		disease Disease or Syndrome 2 2 0.010 None 1.000 1 2017 2017
CUI: C0422943
Disease: Visual symptoms
Visual symptoms 		phenotype Sign or Symptom 17 5 0.010 None 1.000 1 2009 2009
CUI: C0026975
Disease: Myelitis
Myelitis 		disease Infections; Nervous System Diseases Disease or Syndrome 22 0.010 None 1.000 1 2017 2017
CUI: C1262020
Disease: Diffuse alveolar damage
Diffuse alveolar damage 		disease Disease or Syndrome 22 0.010 None 1.000 1 2010 2010
CUI: C0242225
Disease: Color blindness
Color blindness 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 33 4 0.010 None 1.000 1 1999 1999
CUI: C0596321
Disease: Chemical Carcinogenesis
Chemical Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 71 2 0.010 None 1.000 1 2017 2017
CUI: C0029134
Disease: Optic Neuritis
Optic Neuritis 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 79 4 0.020 None 1.000 2 2019 2020
CUI: C0162836
Disease: Hidradenitis Suppurativa
Hidradenitis Suppurativa 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 82 2 0.010 None 1.000 1 2017 2017
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 83 46 0.010 None 1.000 1 2019 2019
CUI: C0009398
Disease: Color vision defect
Color vision defect 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 94 4 0.010 None 1.000 1 1999 1999
CUI: C3495917
Disease: Advanced breast cancer
Advanced breast cancer 		disease Neoplastic Process 151 3 0.010 None 1.000 1 2018 2018
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica 		disease Eye Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome 171 45 0.010 None 1.000 1 2020 2020
CUI: C0033036
Disease: Atrial Premature Complexes
Atrial Premature Complexes 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 183 21 0.010 None 1.000 1 2007 2007
CUI: C0013170
Disease: Drug habituation
Drug habituation 		phenotype Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 196 19 0.010 None 1.000 1 2018 2018
CUI: C0005612
Disease: Birth Weight
Birth Weight 		phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 214 369 0.100 None 1.000 1 2 2019 2019
CUI: C3887524
Disease: Skin Erosion
Skin Erosion 		disease Skin and Connective Tissue Diseases Disease or Syndrome 225 2 0.010 None < 0.001 1 2009 2009
CUI: C0238790
Disease: bone destruction
bone destruction 		disease Disease or Syndrome 234 3 0.010 None 1.000 1 2009 2009
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10 0.010 None < 0.001 1 2009 2009
CUI: C2931852
Disease: Clear-cell metastatic renal cell carcinoma
Clear-cell metastatic renal cell carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 260 11 0.010 None 1.000 1 2008 2008
CUI: C0940937
Disease: precancerous lesions
precancerous lesions 		phenotype Neoplastic Process 270 19 0.010 None 1.000 1 2007 2007
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		group Musculoskeletal Diseases Disease or Syndrome 317 10 0.010 None 1.000 1 2009 2009
CUI: C0018681
Disease: Headache
Headache 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 338 75 0.010 None 1.000 1 2018 2018
CUI: C0079773
Disease: Lymphoma, T-Cell, Cutaneous
Lymphoma, T-Cell, Cutaneous 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 367 5 0.010 None 1.000 1 2000 2000
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		disease Eye Diseases Disease or Syndrome 383 222 0.010 None 1.000 1 2018 2018
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 1 2 2019 2019