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: C0398568
Disease: Blood group deletion syndrome
Blood group deletion syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 3 0.010 None 1.000 1 2014 2014
CUI: C0687751
Disease: Acanthocytosis
Acanthocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 8 0.010 None 1.000 1 1986 1986
CUI: C4024726
Disease: Mucopolysacchariduria
Mucopolysacchariduria 		phenotype Finding 8 2 0.100 None 0
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 13 9 0.010 None 1.000 1 2018 2018
CUI: C0027849
Disease: Neuroleptic Malignant Syndrome
Neuroleptic Malignant Syndrome 		disease Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome 16 4 0.010 None 1.000 1 1996 1996
CUI: C0033680
Disease: Protein-Losing Enteropathies
Protein-Losing Enteropathies 		group Digestive System Diseases Disease or Syndrome 17 2 0.100 None 0
CUI: C1843920
Disease: COENZYME Q10 DEFICIENCY
COENZYME Q10 DEFICIENCY 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 21 3 0.010 None 1.000 1 1974 1974
CUI: C1184919
Disease: Thoracic kyphosis
Thoracic kyphosis 		phenotype Musculoskeletal Diseases Finding 21 4 0.100 None 0
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 31 18 0.010 None 1.000 1 1990 1990
CUI: C1836184
Disease: Short femoral neck
Short femoral neck 		phenotype Finding 31 0.100 None 0
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		disease Congenital Abnormality 32 16 0.100 None 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		phenotype Anatomical Abnormality 46 11 0.100 None 0
CUI: C0020438
Disease: Hypercalciuria
Hypercalciuria 		phenotype Pathological Conditions, Signs and Symptoms Finding 60 5 0.100 None 0
CUI: C4082304
Disease: Oligodontia
Oligodontia 		disease Congenital Abnormality 62 34 0.100 None 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 65 19 0.010 None 1.000 1 1986 1986
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		disease Nutritional and Metabolic Diseases Disease or Syndrome 65 1 0.010 None 1.000 1 2019 2019
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype Finding 71 17 0.100 None 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		disease Acquired Abnormality 73 14 0.100 None 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		phenotype Finding 86 11 0.100 None 0
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 94 13 0.100 None 0
CUI: C0004604
Disease: Back Pain
Back Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 110 10 0.010 None 1.000 1 2019 2019
CUI: C0024421
Disease: Macroglossia
Macroglossia 		disease Stomatognathic Diseases Disease or Syndrome 115 2 0.100 None 0
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		phenotype Finding 147 526 0.100 None 1.000 1 1 2015 2015
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		phenotype Finding 147 526 0.100 None 1.000 1 1 2015 2015
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		phenotype Finding 147 526 0.100 None 1.000 1 1 2015 2015