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: C1333044
Disease: Chronic Myelomonocytic Leukemia-2
Chronic Myelomonocytic Leukemia-2 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 1 0.010 None 1.000 1 2018 2018
CUI: C1835407
Disease: HEPATITIS C VIRUS, SUSCEPTIBILITY TO
HEPATITIS C VIRUS, SUSCEPTIBILITY TO 		disease Finding 1 0.300 strong 1.000 1 2012 2012
CUI: C4330613
Disease: Burkitt-Like Lymphoma with 11q Aberration
Burkitt-Like Lymphoma with 11q Aberration 		disease Neoplastic Process 2 0.010 None 1.000 1 2018 2018
CUI: C1335684
Disease: Rectal Lipoma
Rectal Lipoma 		disease Neoplastic Process 3 0.010 None 1.000 1 2018 2018
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 3 15 0.010 None 1.000 1 2017 2017
CUI: C1837028
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 4 14 0.600 None 1.000 2 2 2000 2001
CUI: C0302329
Disease: Malignant lymphoma centroblastic, diffuse
Malignant lymphoma centroblastic, diffuse 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 4 0.010 None 1.000 1 2001 2001
CUI: C1960273
Disease: Lymphocytic myocarditis
Lymphocytic myocarditis 		disease Cardiovascular Diseases Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C0009759
Disease: Conjunctival Diseases
Conjunctival Diseases 		group Eye Diseases Disease or Syndrome 6 0.010 None 1.000 1 1998 1998
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		disease Eye Diseases Disease or Syndrome 6 22 0.010 None 1.000 1 2018 2018
CUI: C4728223
Disease: Extramedullary myeloma
Extramedullary myeloma 		disease Neoplastic Process 6 0.010 None 1.000 1 2020 2020
CUI: C1832323
Disease: Failure to thrive secondary to recurrent infections
Failure to thrive secondary to recurrent infections 		phenotype Finding 7 0.100 None 0
CUI: C0268389
Disease: Amyloidosis, familial visceral
Amyloidosis, familial visceral 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 8 15 0.010 None 1.000 1 1996 1996
CUI: C0019624
Disease: Histiocytosis, Non-Langerhans-Cell
Histiocytosis, Non-Langerhans-Cell 		disease Hemic and Lymphatic Diseases Disease or Syndrome 9 2 0.010 None < 0.001 1 2019 2019
CUI: C4086945
Disease: Ventilatory Threshold
Ventilatory Threshold 		phenotype Sign or Symptom 10 1 0.010 None 1.000 1 2018 2018
CUI: C1832324
Disease: Recurrent opportunistic infections
Recurrent opportunistic infections 		phenotype Infections Finding 10 0.100 None 0
CUI: C0012359
Disease: Pathological Dilatation
Pathological Dilatation 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 11 0.010 None 1.000 1 2007 2007
CUI: C0457193
Disease: Soft tissue mass
Soft tissue mass 		phenotype Anatomical Abnormality 12 1 0.010 None 1.000 1 2017 2017
CUI: C1332212
Disease: Adult B Lymphoblastic Lymphoma
Adult B Lymphoblastic Lymphoma 		disease Neoplastic Process 12 0.010 None < 0.001 1 1998 1998
CUI: C1332996
Disease: Childhood B Lymphoblastic Lymphoma
Childhood B Lymphoblastic Lymphoma 		disease Neoplastic Process 12 0.010 None < 0.001 1 1998 1998
CUI: C1697878
Disease: BK virus nephropathy
BK virus nephropathy 		disease Infections Disease or Syndrome 12 0.010 None 1.000 1 2018 2018
CUI: C3669048
Disease: Round cell tumor
Round cell tumor 		disease Neoplastic Process 12 0.010 None < 0.001 1 2001 2001
CUI: C0234362
Disease: Synkinesis
Synkinesis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 0.010 None 1.000 1 2017 2017
CUI: C1858080
Disease: Retinal Dystrophy, Early Onset Severe
Retinal Dystrophy, Early Onset Severe 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 14 2 0.010 None 1.000 1 2019 2019
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 16 31 0.010 None 1.000 1 1994 1994