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: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 477 83 0.310 None 1.000 2 2016 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.110 None 1.000 1 2019 2019
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
disease Disease or Syndrome 77 1 0.010 None 1.000 1 2019 2019
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy
disease Nervous System Diseases Disease or Syndrome 320 33 0.010 None 1.000 1 2008 2008
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.300 None 1.000 1 2009 2009
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 332 56 0.010 None 1.000 1 2019 2019
CUI: C1956132
Disease: Lymphoma, Follicular, Grade 2
Lymphoma, Follicular, Grade 2
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 15 0.300 None 1.000 1 2016 2016
CUI: C1956131
Disease: Lymphoma, Follicular, Grade 3
Lymphoma, Follicular, Grade 3
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 16 0.300 None 1.000 1 2016 2016
CUI: C1956130
Disease: Lymphoma, Follicular, Grade 1
Lymphoma, Follicular, Grade 1
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 22 0.300 None 1.000 1 2016 2016
CUI: C0079758
Disease: Lymphoma, Mixed-Cell, Follicular
Lymphoma, Mixed-Cell, Follicular
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 15 0.300 None 1.000 1 2016 2016
Lymphoma, Small Cleaved-Cell, Follicular
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 21 0.300 None 1.000 1 2016 2016
CUI: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans
disease Musculoskeletal Diseases Disease or Syndrome 96 1 0.300 None 1.000 1 2009 2009
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 81 9 0.110 None 1.000 1 2019 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2016 2016
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2019 2019
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 8 0.610 None 1.000 1 2015 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.010 None 1.000 1 2019 2019
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized
disease Nervous System Diseases Disease or Syndrome 93 36 0.010 None 1.000 1 2019 2019
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 67 11 0.010 None 1.000 1 2019 2019
CUI: C0079745
Disease: Lymphoma, Large-Cell, Follicular
Lymphoma, Large-Cell, Follicular
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 153 6 0.300 None 1.000 1 2016 2016
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border
phenotype Finding 95 15 0.100 None 0
CUI: C1851400
Disease: Facial Hypertrichosis
Facial Hypertrichosis
phenotype Skin and Connective Tissue Diseases Finding 8 2 0.100 None 0
CUI: C0431890
Disease: Hypoplasia of thumb
Hypoplasia of thumb
disease Musculoskeletal Diseases Congenital Abnormality 49 3 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 429 29 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0