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: C1864233
Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 11 23 0.740 None 1.000 19 23 1998 2018
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 57 40 0.500 limited 1.000 18 4 1998 2020
CUI: C4317009
Disease: Diverticular Diseases
Diverticular Diseases 		group Digestive System Diseases Disease or Syndrome 83 88 0.410 None 1.000 2 1 2017 2018
CUI: C1283397
Disease: Deficiency of acetylcholinesterase
Deficiency of acetylcholinesterase 		disease Disease or Syndrome 5 0.020 None 1.000 2 1998 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2014 2017
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 468 81 0.020 None 1.000 2 2015 2018
CUI: C4505353
Disease: Diverticular Bleeding
Diverticular Bleeding 		disease Digestive System Diseases Disease or Syndrome 13 0.300 None 1.000 1 2017 2017
CUI: C0012813
Disease: Diverticulitis
Diverticulitis 		disease Digestive System Diseases Disease or Syndrome 38 13 0.110 None 1.000 1 1 2017 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2017 2017
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C0497327
Disease: Dementia
Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.010 None 1.000 1 2017 2017
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.010 None 1.000 1 2017 2017
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 1553 320 0.010 None 1.000 1 2018 2018
CUI: C2678045
Disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS
TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality 10 3 0.010 None 1.000 1 2018 2018
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma 		disease Neoplasms Neoplastic Process 387 9 0.010 None 1.000 1 2017 2017
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 453 235 0.010 None 1.000 1 2015 2015
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2053 329 0.010 None 1.000 1 2018 2018
CUI: C0393934
Disease: Slow channel syndrome
Slow channel syndrome 		disease Nervous System Diseases Disease or Syndrome 6 1 0.010 None 1.000 1 2008 2008
CUI: C1510475
Disease: Diverticulosis
Diverticulosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 43 6 0.010 None 1.000 1 1 2017 2017
CUI: C0268379
Disease: Pseudocholinesterase deficiency
Pseudocholinesterase deficiency 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C0013595
Disease: Eczema
Eczema 		disease Skin and Connective Tissue Diseases Disease or Syndrome 863 368 0.010 None 1.000 1 2008 2008
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.010 None 1.000 1 2017 2017
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 2008 2008
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.010 None 1.000 1 2017 2017
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.010 None 1.000 1 2019 2019