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: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 75 1 0.400 None 0.952 21 2001 2019
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype Finding 64 4 0.400 None 1.000 1 2019 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.400 None 1.000 1 2019 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.400 None 1.000 1 2019 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.360 None 1.000 6 2009 2015
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.320 None 1.000 3 2013 2019
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 8 13 0.320 None 1.000 2 2017 2018
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.320 None 1.000 2 2010 2014
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3197 186 0.310 None 1.000 2 2014 2019
CUI: C0027830
Disease: neurofibroma
neurofibroma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 125 5 0.310 None 1.000 2 2014 2014
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.310 None 1.000 1 2008 2008
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: C0751691
Disease: Perineurioma
Perineurioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 18 3 0.300 None 1.000 2 2014 2014
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: C0205650
Disease: Papillary adenoma
Papillary adenoma 		disease Neoplasms Neoplastic Process 39 0.300 None 1.000 1 2014 2014
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		phenotype Pathological Conditions, Signs and Symptoms Finding 70 10 0.300 None 1.000 1 2019 2019
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		disease Neoplasms Neoplastic Process 297 33 0.300 None 1.000 1 2014 2014
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		disease Neoplasms Neoplastic Process 724 22 0.300 None 1.000 1 2014 2014
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		disease Neoplasms Neoplastic Process 193 11 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: C0042063
Disease: Urogenital Abnormalities
Urogenital Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 42 3 0.300 None 1.000 1 2019 2019
CUI: C0334588
Disease: Giant Cell Glioblastoma
Giant Cell Glioblastoma 		disease Neoplasms Neoplastic Process 95 3 0.300 None 1.000 1 2014 2014
CUI: C0751374
Disease: Schwannomatosis, Plexiform
Schwannomatosis, Plexiform 		disease Neoplasms Neoplastic Process 5 0.300 None 1.000 1 2014 2014
CUI: C0205646
Disease: Adenoma, Basal Cell
Adenoma, Basal Cell 		disease Neoplasms Neoplastic Process 49 0.300 None 1.000 1 2014 2014
CUI: C0205647
Disease: Follicular adenoma
Follicular adenoma 		disease Neoplasms Neoplastic Process 183 5 0.300 None 1.000 1 2014 2014