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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2013 2013
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype Finding 172 1 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		phenotype Finding 175 0.100 None 0
CUI: C3714772
Disease: Recurrent fevers
Recurrent fevers 		phenotype Sign or Symptom 48 4 0.100 None 0
CUI: C4025235
Disease: Frequent Giardia lamblia infestation
Frequent Giardia lamblia infestation 		phenotype Finding 1 0.100 None 0
CUI: C1845903
Disease: AGAMMAGLOBULINEMIA, X-LINKED, TYPE 2 (disorder)
AGAMMAGLOBULINEMIA, X-LINKED, TYPE 2 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.300 None 0
CUI: C3714745
Disease: Malabsorption
Malabsorption 		phenotype Digestive System Diseases Finding 175 3 0.100 None 0
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.400 None 1.000 1 2004 2004
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 947 45 0.300 None 1.000 1 2004 2004
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		group Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 239 0.100 None 0
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None 1.000 1 2016 2016
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 43 1 0.100 None 0
CUI: C0019911
Disease: Hookworm Infections
Hookworm Infections 		group Infections Disease or Syndrome 13 0.010 None 1.000 1 2011 2011
CUI: C3714514
Disease: Infection
Infection 		group Infections Pathologic Function 491 0.010 None 1.000 1 2005 2005
CUI: C0035021
Disease: Relapsing Fever
Relapsing Fever 		disease Infections Disease or Syndrome 48 2 0.100 None 0
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection 		phenotype Infections Finding 69 0.100 None 0
CUI: C0024266
Disease: Lymphocytic Choriomeningitis
Lymphocytic Choriomeningitis 		disease Infections; Nervous System Diseases Disease or Syndrome 147 0.010 None 1.000 1 2018 2018
CUI: C0153014
Disease: Non-arthropod borne lymphocytic choriomeningitis
Non-arthropod borne lymphocytic choriomeningitis 		disease Infections; Nervous System Diseases Disease or Syndrome 133 0.010 None 1.000 1 2018 2018
CUI: C0581354
Disease: Recurrent sinusitis
Recurrent sinusitis 		disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 41 3 0.100 None 0
CUI: C0019348
Disease: Herpes Simplex Infections
Herpes Simplex Infections 		group Infections; Skin and Connective Tissue Diseases Disease or Syndrome 645 11 0.020 None 1.000 2 2005 2017
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 0
CUI: C0003864
Disease: Arthritis
Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.100 None 0
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.030 None 1.000 3 2013 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.030 None 1.000 3 2013 2019