Source: CURATED ×
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: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 8 4 0.700 strong 1.000 3 2014 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 71 628 0.700 None 1.000 2 1 2006 2019
CUI: C0432254
Disease: Singleton Merten syndrome
Singleton Merten syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.690 strong 1.000 2 2015 2019
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7 		disease Disease or Syndrome 1 15 0.610 None 1.000 6 15 2014 2020
CUI: C4225427
Disease: SINGLETON-MERTEN SYNDROME 1
SINGLETON-MERTEN SYNDROME 1 		disease Disease or Syndrome 2 5 0.600 strong 1.000 3 5 2015 2017
CUI: C0033860
Disease: Psoriasis
Psoriasis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 57 501 0.440 None 1.000 1 4 2010 2018
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 4 21 0.400 None 1.000 2 1 2010 2016
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 218 417 0.400 strong 1.000 1 2018 2018
CUI: C0018213
Disease: Graves Disease
Graves Disease 		disease Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 9 121 0.360 None 0.833 1 2007 2020
CUI: C0021400
Disease: Influenza
Influenza 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 52 0.330 None 1.000 1 2011 2017
CUI: C0242380
Disease: Libman-Sacks Disease
Libman-Sacks Disease 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 58 0.300 None 1.000 2 2009 2014
CUI: C0042900
Disease: Vitiligo
Vitiligo 		disease Skin and Connective Tissue Diseases Disease or Syndrome 17 171 0.300 None 1.000 1 2012 2012
CUI: C0030246
Disease: Pustulosis of Palms and Soles
Pustulosis of Palms and Soles 		disease Skin and Connective Tissue Diseases Disease or Syndrome 57 0.300 None 1.000 1 2010 2010
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 6 26 0.300 None 1.000 1 2014 2014
CUI: C3489724
Disease: Aicardi-Goutieres Syndrome 2
Aicardi-Goutieres Syndrome 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 6 19 0.300 None 1.000 1 2014 2014
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 7 3 0.300 None 1.000 1 2014 2014
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		disease Disease or Syndrome 35 0.300 strong 1.000 1 2017 2017