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: C0740479
Disease: Undifferentiated High Grade Pleomorphic Sarcoma of Bone
Undifferentiated High Grade Pleomorphic Sarcoma of Bone 		disease Neoplastic Process 4 0.010 None 1.000 1 2013 2013
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Congenital Abnormality 5 6 0.010 None 1.000 1 2016 2016
CUI: C0730345
Disease: Microalbuminuria
Microalbuminuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 30 32 0.100 None 1.000 1 1 2019 2019
CUI: C0751362
Disease: Narcolepsy-Cataplexy Syndrome
Narcolepsy-Cataplexy Syndrome 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 30 7 0.010 None 1.000 1 2018 2018
CUI: C4543926
Disease: Narcolepsy type 1
Narcolepsy type 1 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 35 0.010 None 1.000 1 2018 2018
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated 		disease Neoplasms Neoplastic Process 54 0.030 None 1.000 3 2011 2018
CUI: C3489413
Disease: Lipomatosis, Multiple
Lipomatosis, Multiple 		disease Neoplasms Neoplastic Process 54 1 0.010 None 1.000 1 2011 2011
CUI: C0027662
Disease: Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 65 11 0.010 None 1.000 1 2001 2001
CUI: C1266129
Disease: Atypical Lipoma
Atypical Lipoma 		disease Neoplasms Neoplastic Process 70 2 0.030 None 1.000 3 2011 2018
CUI: C0023798
Disease: Lipoma
Lipoma 		disease Neoplasms Neoplastic Process 87 9 0.010 None 1.000 1 2011 2011
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated 		disease Neoplasms Neoplastic Process 95 0.040 None 1.000 4 2011 2018
CUI: C0030521
Disease: Parathyroid Neoplasms
Parathyroid Neoplasms 		group Neoplasms; Endocrine System Diseases Neoplastic Process 104 9 0.010 None 1.000 1 1999 1999
CUI: C0008487
Disease: Chordoma
Chordoma 		disease Neoplasms Neoplastic Process 140 3 0.010 None 1.000 1 2009 2009
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma 		disease Neoplasms Neoplastic Process 143 6 0.030 None 1.000 3 2011 2019
CUI: C0279984
Disease: Childhood Liposarcoma
Childhood Liposarcoma 		disease Neoplasms Neoplastic Process 143 6 0.030 None 1.000 3 2011 2019
CUI: C0334463
Disease: Malignant Fibrous Histiocytoma
Malignant Fibrous Histiocytoma 		disease Neoplasms Neoplastic Process 150 3 0.010 None 1.000 1 2013 2013
CUI: C0023827
Disease: liposarcoma
liposarcoma 		disease Neoplasms Neoplastic Process 200 6 0.330 None 1.000 3 2011 2019
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 338 36 0.010 None 1.000 1 2017 2017
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 408 4 0.010 None 1.000 1 2018 2018
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 586 125 0.010 None 1.000 1 2017 2017
CUI: C0027796
Disease: Neuralgia
Neuralgia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 767 16 0.010 None 1.000 1 2018 2018
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease Eye Diseases Disease or Syndrome 770 198 0.010 None 1.000 1 2018 2018
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group Immune System Diseases Disease or Syndrome 973 31 0.010 None 1.000 1 2015 2015
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1169 66 0.010 None 1.000 1 2005 2005
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1171 66 0.010 None 1.000 1 2005 2005