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: C1264195
Disease: Refractory anemia with ringed sideroblasts
Refractory anemia with ringed sideroblasts 		disease Hemic and Lymphatic Diseases Neoplastic Process 36 3 0.100 None 0
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 37 2 0.010 None 1.000 1 2017 2017
CUI: C1456246
Disease: Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site
Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 43 0.010 None 1.000 1 2017 2017
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 45 1 0.010 None 1.000 1 2015 2015
CUI: C1609524
Disease: ADHF
ADHF 		disease Disease or Syndrome 46 0.010 None 1.000 1 2018 2018
CUI: C0221765
Disease: Chronic schizophrenia
Chronic schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 48 7 0.300 None 1.000 1 2013 2013
CUI: C0861352
Disease: Lobular Neoplasia
Lobular Neoplasia 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 49 3 0.010 None 1.000 1 2018 2018
CUI: C0022672
Disease: Acute Kidney Tubular Necrosis
Acute Kidney Tubular Necrosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 53 0.010 None 1.000 1 2019 2019
CUI: C4551689
Disease: Sleep-Disordered Breathing
Sleep-Disordered Breathing 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 65 0.040 None 1.000 4 2017 2019
CUI: C1883018
Disease: Severe Aplastic Anemia
Severe Aplastic Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 70 4 0.010 None 1.000 1 2018 2018
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 73 14 0.100 None 0
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 80 42 0.080 None 1.000 8 1997 2019
CUI: C0393819
Disease: Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 82 4 0.010 None 1.000 1 2019 2019
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 85 11 0.100 None 0.962 26 1998 2020
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome 87 46 0.010 None 1.000 1 2019 2019
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 88 11 0.010 None 1.000 1 2019 2019
CUI: C0006840
Disease: Candidiasis
Candidiasis 		disease Infections Disease or Syndrome 95 8 0.010 None 1.000 1 2018 2018
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 96 8 0.100 None 0
CUI: C0520459
Disease: Necrotizing Enterocolitis
Necrotizing Enterocolitis 		disease Digestive System Diseases Disease or Syndrome 103 7 0.300 None 1.000 1 2008 2008
CUI: C1411966
Disease: Clostridium; difficile (disorder)
Clostridium; difficile (disorder) 		disease Disease or Syndrome 106 0.010 None 1.000 1 2017 2017
CUI: C0431447
Disease: Synophrys
Synophrys 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 111 23 0.100 None 0
CUI: C0266999
Disease: Vesicular Stomatitis
Vesicular Stomatitis 		disease Infections; Stomatognathic Diseases; Animal Diseases Disease or Syndrome 112 0.010 None 1.000 1 2019 2019
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype Finding 112 9 0.100 None 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		phenotype Finding 117 1 0.100 None 0
CUI: C2931689
Disease: Dystrophia myotonica 2
Dystrophia myotonica 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 118 21 0.010 None 1.000 1 2010 2010