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: C1840299
Disease: Hypotrichosis Simplex of Scalp
Hypotrichosis Simplex of Scalp 		disease Skin and Connective Tissue Diseases Disease or Syndrome 3 2 0.100 None 0 2
CUI: C3536958
Disease: Surfactant protein D measurement
Surfactant protein D measurement 		phenotype Laboratory Procedure 6 12 0.100 None 1.000 1 2 2012 2012
CUI: C0024137
Disease: Lupus Erythematosus, Cutaneous
Lupus Erythematosus, Cutaneous 		disease Skin and Connective Tissue Diseases Disease or Syndrome 39 7 0.100 None 1.000 1 1 2015 2015
CUI: C0272178
Disease: Drug-induced neutropenia
Drug-induced neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 41 54 0.100 None 1.000 1 1 2015 2015
CUI: C0038325
Disease: Stevens-Johnson Syndrome
Stevens-Johnson Syndrome 		disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases Disease or Syndrome 67 16 0.100 None 1.000 1 1 2011 2011
CUI: C1849193
Disease: PEELING SKIN SYNDROME
PEELING SKIN SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 67 11 0.100 None 0 4
CUI: C0406317
Disease: Chronic small plaque psoriasis
Chronic small plaque psoriasis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 82 3 0.010 None 1.000 1 2005 2005
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		disease Stomatognathic Diseases Disease or Syndrome 104 101 0.100 None 1.000 1 2 2019 2019
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		phenotype Laboratory Procedure 124 243 0.100 None 1.000 1 1 2018 2018
CUI: C0497169
Disease: hiv-infection/aids
hiv-infection/aids 		disease Infections Disease or Syndrome 124 4 0.010 None 1.000 1 2009 2009
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 136 55 0.100 None 1.000 1 1 2015 2015
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis 		disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases Disease or Syndrome 143 29 0.100 None 1.000 1 1 2011 2011
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		phenotype Finding 147 526 0.100 None 1.000 2 53 2009 2010
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		phenotype Finding 147 526 0.100 None 1.000 2 53 2009 2010
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		phenotype Finding 147 526 0.100 None 1.000 2 53 2009 2010
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		disease Finding 149 527 0.100 None 1.000 2 53 2009 2010
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		group Mental Disorders Mental or Behavioral Dysfunction 168 379 0.100 None 1.000 1 1 2017 2017
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 197 33 0.100 None 1.000 1 2 2011 2011
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		group Infections; Immune System Diseases Disease or Syndrome 243 42 0.100 None 1.000 1 3 2009 2009
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		phenotype Laboratory Procedure 264 1463 0.100 None 1.000 1 2 2019 2019
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		phenotype Laboratory Procedure 265 457 0.100 None 1.000 1 1 2018 2018
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 336 93 0.100 None 1.000 1 2 2012 2012
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 1 4 2012 2012
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 450 89 0.010 None 1.000 1 2005 2005
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome 502 243 0.400 None 1.000 3 3 2012 2013