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: C0035411
Disease: Rhabdomyoma
Rhabdomyoma 		disease Neoplasms Neoplastic Process 16 1 0.010 None 1.000 1 2018 2018
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 191 11 0.100 None 0
CUI: C0581342
Disease: Redundant skin
Redundant skin 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Pathologic Function 48 2 0.100 None 0
CUI: C2745900
Disease: Promyelocytic leukemia
Promyelocytic leukemia 		disease Neoplastic Process 255 2 0.010 None 1.000 1 2011 2011
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.030 None 1.000 3 2009 2015
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 644 23 0.020 None 1.000 2 2012 2019
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 46 5 0.020 None 1.000 2 2011 2012
CUI: C0751689
Disease: Peripheral Nerve Sheath Neoplasm
Peripheral Nerve Sheath Neoplasm 		disease Neoplasms; Nervous System Diseases Neoplastic Process 22 0.300 None 1.000 2 2014 2014
CUI: C0751691
Disease: Perineurioma
Perineurioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 18 3 0.300 None 1.000 2 2014 2014
CUI: C0205650
Disease: Papillary adenoma
Papillary adenoma 		disease Neoplasms Neoplastic Process 39 0.300 None 1.000 1 2014 2014
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.300 None 1.000 1 2019 2019
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		disease Neoplasms Neoplastic Process 2247 151 0.010 None 1.000 1 2018 2018
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 2283 178 0.010 None 1.000 1 2018 2018
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 590 77 0.100 None 0
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 311 827 0.070 None 1.000 7 2004 2017
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 135 16 0.020 None 1.000 2 2014 2016
CUI: C0027830
Disease: neurofibroma
neurofibroma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 125 5 0.310 None 1.000 2 2014 2014
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 2018 2018
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		disease Neoplasms Neoplastic Process 193 11 0.300 None 1.000 1 2014 2014
CUI: C0206727
Disease: Nerve Sheath Tumors
Nerve Sheath Tumors 		group Neoplasms; Nervous System Diseases Neoplastic Process 31 0.300 None 1.000 2 2014 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.875 16 2001 2019
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 329 23 0.010 None 1.000 1 2019 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.070 None 1.000 7 2013 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		group Hemic and Lymphatic Diseases Neoplastic Process 365 43 0.010 None 1.000 1 2012 2012
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 1172 115 0.010 None 1.000 1 2010 2010