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: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 164 139 0.300 moderate 1.000 1 2014 2014
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.100 None 0.909 11 1983 2018
CUI: C0011644
Disease: Scleroderma
Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 316 5 0.080 None 1.000 8 1983 2018
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.050 None 1.000 5 2 2014 2019
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
disease Neoplasms Neoplastic Process 299 4 0.040 None 1.000 4 2003 2020
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma
disease Neoplasms Neoplastic Process 198 1 0.030 None 1.000 3 2006 2020
CUI: C0278660
Disease: Adult Synovial Sarcoma
Adult Synovial Sarcoma
disease Neoplasms Neoplastic Process 198 1 0.030 None 1.000 3 2006 2020
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.020 None 0.500 2 1999 2014
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.020 None 1.000 2 1989 2006
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.020 None 1.000 2 1991 2018
Small cell lung cancer extensive stage
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 13 1 0.010 None < 0.001 1 2017 2017
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 0.010 None < 0.001 1 1989 1989
CUI: C0392475
Disease: Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 11 28 0.010 None 1.000 1 1991 1991
Chromosome 11p11.2 Deletion Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Disease or Syndrome 65 6 0.010 None < 0.001 1 1989 1989
CUI: C0701818
Disease: Choledocholithiasis
Choledocholithiasis
disease Digestive System Diseases Disease or Syndrome 12 0.010 None 1.000 1 2019 2019
ST segment elevation myocardial infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 264 16 0.010 None 1.000 1 2018 2018
CUI: C0748540
Disease: Scleroderma, Limited
Scleroderma, Limited
disease Skin and Connective Tissue Diseases Disease or Syndrome 17 10 0.010 None 1.000 1 2002 2002
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None < 0.001 1 1 2017 2017
CUI: C0751956
Disease: Acute Cerebrovascular Accidents
Acute Cerebrovascular Accidents
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 155 2 0.010 None 1.000 1 2020 2020
CUI: C1258104
Disease: Diffuse Scleroderma
Diffuse Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 56 5 0.010 None 1.000 1 1989 1989
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 195 54 0.010 None 1.000 1 2017 2017
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 75 2 0.010 None 1.000 1 1990 1990
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa
disease Mental Disorders Mental or Behavioral Dysfunction 202 72 0.010 None 1.000 1 2018 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 1993 1993
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.010 None 1.000 1 2017 2017