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: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders
group Hemic and Lymphatic Diseases Disease or Syndrome 267 31 0.010 None 1.000 1 1989 1989
CUI: C1960561
Disease: Hemidystonia
Hemidystonia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 1991 1991
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 80 53 0.010 None 1.000 1 1991 1991
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
group Nervous System Diseases Disease or Syndrome 512 264 0.010 None 1.000 1 1991 1991
CUI: C0598106
Disease: Encephalomyelopathy
Encephalomyelopathy
disease Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 1991 1991
CUI: C0206307
Disease: Canavan Disease
Canavan Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 12 65 0.010 None 1.000 1 1991 1991
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 32 8 0.010 None 1.000 1 1991 1991
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 144 114 0.010 None 1.000 1 1991 1991
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 86 34 0.010 None 1.000 1 1992 1992
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.010 None 1.000 1 1993 1993
CUI: C0001430
Disease: Adenoma
Adenoma
group Neoplasms Neoplastic Process 1183 103 0.010 None 1.000 1 1993 1993
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 20 2 0.010 None 1.000 1 1994 1994
CUI: C0342739
Disease: Trimethylaminuria
Trimethylaminuria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 17 0.010 None 1.000 1 1997 1997
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 90 91 0.010 None 1.000 1 1998 1998
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 457 64 0.010 None 1.000 1 1998 1998
CUI: C0024198
Disease: Lyme Disease
Lyme Disease
disease Infections Disease or Syndrome 178 4 0.010 None 1.000 1 1998 1998
Human Transmissible Spongiform Encephalopathies, Inherited
disease Infections; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 1998 1998
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 1998 1998
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 119 24 0.010 None 1.000 1 1999 1999
CUI: C0243038
Disease: Carcinoma, Lewis Lung
Carcinoma, Lewis Lung
disease Neoplasms Neoplastic Process; Experimental Model of Disease 188 0.010 None 1.000 1 1999 1999
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 2111 144 0.010 None 1.000 1 1999 1999
CUI: C0678128
Disease: Friend leukemia
Friend leukemia
disease Neoplasms Neoplastic Process 19 0.010 None 1.000 1 1999 1999
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
disease Neoplasms Neoplastic Process 1740 140 0.010 None 1.000 1 1999 1999
CUI: C1628319
Disease: Lattice corneal dystrophy Type II
Lattice corneal dystrophy Type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases Disease or Syndrome 4 4 0.010 None 1.000 1 2000 2000
CUI: C0342500
Disease: Adrenal mass
Adrenal mass
disease Endocrine System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2000 2000