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: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease Immune System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1112 674 0.700 1.000 16 3 2006 2017
CUI: C0432254
Disease: Singleton Merten syndrome
Singleton Merten syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases; Stomatognathic Diseases Disease or Syndrome 2 0.540 1.000 4 2015 2018
CUI: C0033860
Disease: Psoriasis
Psoriasis
disease Skin and Connective Tissue Diseases Disease or Syndrome 817 636 0.430 1.000 6 5 2010 2017
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7
disease Disease or Syndrome 2 8 0.400 4 8 2014 2015
Immunoglobulin A deficiency (disorder)
disease Hemic and Lymphatic Diseases; Immune System Diseases Disease or Syndrome 54 19 0.400 2 1 2010 2016
CUI: C4225427
Disease: SINGLETON-MERTEN SYNDROME 1
SINGLETON-MERTEN SYNDROME 1
disease Disease or Syndrome 1 1 0.400 2 1 2010 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 strong 1 2014 2014
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 58 27 0.370 1.000 8 2014 2017
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME
disease Disease or Syndrome 16 5 0.370 1.000 7 2014 2017
CUI: C0018213
Disease: Graves Disease
Graves Disease
disease Endocrine System Diseases; Eye Diseases; Immune System Diseases Disease or Syndrome 334 213 0.340 0.500 4 1 2007 2014
CUI: C0021400
Disease: Influenza
Influenza
disease Respiratory Tract Diseases; Virus Diseases Disease or Syndrome 588 13 0.330 1.000 4 2011 2016
CUI: C0242380
Disease: Libman-Sacks Disease
Libman-Sacks Disease
disease Immune System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 58 0.300 2 2009 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 8 5 0.300 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 15 0.300 1 2014 2014
CUI: C0030246
Disease: Pustulosis of Palms and Soles
Pustulosis of Palms and Soles
disease Skin and Connective Tissue Diseases Disease or Syndrome 66 0.300 1 2010 2010
CUI: C0042900
Disease: Vitiligo
Vitiligo
disease Skin and Connective Tissue Diseases Disease or Syndrome 242 205 0.300 1 2012 2012
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 strong 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease Disease or Syndrome 203 6 0.300 strong 0
Diabetes Mellitus, Insulin-Dependent
disease Endocrine System Diseases; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 955 775 0.200 0.857 40 5 2006 2016
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1105 745 0.150 0.800 6 3 2008 2015
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1059 141 0.100 0.933 15 1 2007 2017
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
group Virus Diseases Disease or Syndrome 874 27 0.100 1.000 14 1 2008 2017
CUI: C0202202
Disease: Protein measurement
Protein measurement
group Laboratory Procedure 46 422 0.100 1 1 2010 2010
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 300 4 0.100 1 1 2015 2015
CUI: C1855009
Disease: Psychomotor regression in infants
Psychomotor regression in infants
phenotype Finding 152 9 0.100 1 1 2015 2015