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: C0026499
Disease: Monosomy
Monosomy
group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.010 None 1.000 1 1996 1996
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.030 None 1.000 3 2015 2019
CUI: C0027092
Disease: Myopia
Myopia
disease Eye Diseases Disease or Syndrome 490 167 0.020 None 1.000 2 2013 2019
CUI: C0271183
Disease: Severe myopia
Severe myopia
disease Eye Diseases Disease or Syndrome 184 116 0.020 None 0.500 2 2013 2013
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder
disease Eye Diseases Disease or Syndrome 304 56 0.020 None 1.000 2 2018 2018
CUI: C0003864
Disease: Arthritis
Arthritis
disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.010 None 1.000 1 2008 2008
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 751 232 0.010 None 1.000 1 2003 2003
CUI: C0013595
Disease: Eczema
Eczema
disease Skin and Connective Tissue Diseases Disease or Syndrome 863 368 0.010 None 1.000 1 2003 2003
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.010 None 1.000 1 2007 2007
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2018 2018
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.010 None < 0.001 1 2006 2006
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.010 None 1.000 1 2008 2008
CUI: C0034951
Disease: Refractive Errors
Refractive Errors
group Eye Diseases Disease or Syndrome 71 75 0.010 None 1.000 1 2013 2013
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.010 None 1.000 1 2014 2014
CUI: C0041234
Disease: Chagas Disease
Chagas Disease
disease Infections Disease or Syndrome 202 10 0.010 None 1.000 1 2013 2013
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 649 224 0.010 None 1.000 1 2019 2019
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
group Nervous System Diseases Disease or Syndrome 512 264 0.010 None 1.000 1 2011 2011
CUI: C0154778
Disease: Myopia, Degenerative
Myopia, Degenerative
disease Eye Diseases Disease or Syndrome 39 58 0.100 None 1.000 1 1 2013 2013
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None 1.000 1 2017 2017
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome
disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 481 47 0.010 None 1.000 1 2014 2014
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 1.000 1 2014 2014
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 37 0.010 None < 0.001 1 1996 1996
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 1.000 1 2014 2014
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 132 81 0.010 None 1.000 1 2019 2019
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder)
disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 446 176 0.010 None 1.000 1 2011 2011