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 Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.700 None 1.000 24 4 2006 2019
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 117 12 0.700 strong 1.000 14 2014 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 8 1 0.690 strong 1.000 10 1 2015 2019
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7
disease Disease or Syndrome 2 15 0.610 None 1.000 8 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 1308 705 0.440 None 1.000 7 5 2010 2018
Immunoglobulin A deficiency (disorder)
disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 72 25 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 2152 553 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 585 352 0.360 None 0.833 6 1 2007 2020
CUI: C0021400
Disease: Influenza
Influenza
disease Infections; Respiratory Tract Diseases Disease or Syndrome 858 17 0.330 None 1.000 4 2011 2017
CUI: C0242380
Disease: Libman-Sacks Disease
Libman-Sacks Disease
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 59 0.300 None 1.000 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 7 3 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: 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 7 26 0.300 None 1.000 1 2014 2014
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease Disease or Syndrome 60 4 0.300 strong 1.000 1 2017 2017
CUI: C0030246
Disease: Pustulosis of Palms and Soles
Pustulosis of Palms and Soles
disease Skin and Connective Tissue Diseases Disease or Syndrome 74 1 0.300 None 1.000 1 2010 2010
CUI: C0042900
Disease: Vitiligo
Vitiligo
disease Skin and Connective Tissue Diseases Disease or Syndrome 395 249 0.300 None 1.000 1 2012 2012
Diabetes Mellitus, Insulin-Dependent
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.200 None 0.927 55 6 2006 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.200 None 1.000 12 1 2010 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.160 None 1.000 7 3 2008 2020
CUI: C0027121
Disease: Myositis
Myositis
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 254 43 0.160 None 1.000 6 2011 2019
Selective immunoglobulin A deficiency
disease Disease or Syndrome 45 23 0.130 None 1.000 3 2 2010 2016
CUI: C0003864
Disease: Arthritis
Arthritis
disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.120 None 0.500 2 2018 2019
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.120 None 1.000 2 2017 2018
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 226 28 0.110 None 1.000 1 2016 2016