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: C0206638
Disease: Giant Cell Tumor of Bone
Giant Cell Tumor of Bone 		disease Neoplasms Neoplastic Process 113 3 0.010 None 1.000 1 2019 2019
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors 		group Neoplasms Neoplastic Process 491 20 0.010 None 1.000 1 2019 2019
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 49 15 0.010 None 1.000 1 2018 2018
CUI: C0238029
Disease: Ependymoma of brain
Ependymoma of brain 		disease Neoplasms; Nervous System Diseases Neoplastic Process 13 0.010 None 1.000 1 2016 2016
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: C0264733
Disease: Ventricular dilatation (disorder)
Ventricular dilatation (disorder) 		disease Cardiovascular Diseases Disease or Syndrome 13 0.010 None 1.000 1 2020 2020
CUI: C0541798
Disease: Early Awakening
Early Awakening 		phenotype Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 10 1 0.010 None 1.000 1 2019 2019
CUI: C0268238
Disease: Triglyceride storage disease with ichthyosis
Triglyceride storage disease with ichthyosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 41 8 0.010 None 1.000 1 2009 2009
CUI: C0268381
Disease: Primary amyloidosis
Primary amyloidosis 		disease Neoplasms; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 59 11 0.010 None 1.000 1 2017 2017
CUI: C0278506
Disease: Non-small cell lung cancer stage III
Non-small cell lung cancer stage III 		disease Neoplastic Process 16 1 0.010 None 1.000 1 2019 2019
CUI: C0862312
Disease: Epithelioid mesothelioma, malignant
Epithelioid mesothelioma, malignant 		disease Neoplasms Neoplastic Process 32 0.010 None 1.000 1 2016 2016
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.010 None 1.000 1 2017 2017
CUI: C1135868
Disease: Gestational Trophoblastic Neoplasms
Gestational Trophoblastic Neoplasms 		group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 98 7 0.010 None 1.000 1 2013 2013
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 56 42 0.010 None 1.000 1 2016 2016
CUI: C2986665
Disease: Early-Stage Breast Carcinoma
Early-Stage Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 142 7 0.010 None 1.000 1 2020 2020
CUI: C3160897
Disease: Opioid-Induced Constipation
Opioid-Induced Constipation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 8 0.010 None 1.000 1 2018 2018
CUI: C3472608
Disease: Micropapillary carcinoma
Micropapillary carcinoma 		disease Neoplastic Process 29 0.010 None 1.000 1 2011 2011
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 43 15 0.010 None 1.000 1 2018 2018
CUI: C3536984
Disease: Vitamin D-Resistant Rickets, X-Linked
Vitamin D-Resistant Rickets, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 48 3 0.010 None 1.000 1 2018 2018
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 23 1 0.010 None 1.000 1 2018 2018
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		phenotype Neoplasms Neoplastic Process 437 63 0.010 None < 0.001 1 2018 2018
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.010 None 1.000 1 2002 2002
CUI: C4317112
Disease: Generalized Lipodystrophy
Generalized Lipodystrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 18 5 0.010 None 1.000 1 2018 2018
CUI: C4518356
Disease: MiT family translocation renal cell carcinoma
MiT family translocation renal cell carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 33 0.010 None < 0.001 1 2010 2010
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 160 10 0.010 None 1.000 1 2009 2009