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: C0029172
Disease: Oral Submucous Fibrosis
Oral Submucous Fibrosis 		disease Stomatognathic Diseases Disease or Syndrome 106 8 0.010 None 1.000 1 2019 2019
CUI: C0233794
Disease: Memory impairment
Memory impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.010 None 1.000 1 2018 2018
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 213 83 0.010 None 1.000 1 2015 2015
CUI: C0242363
Disease: Islet Cell Tumor
Islet Cell Tumor 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 108 5 0.010 None 1.000 1 2019 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.010 None 1.000 1 2015 2015
CUI: C0263313
Disease: Pemphigus Foliaceus
Pemphigus Foliaceus 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 51 16 0.010 None 1.000 1 2019 2019
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1598 96 0.010 None 1.000 1 2017 2017
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2019 2019
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.010 None 1.000 1 2016 2016
CUI: C0280313
Disease: Squamous cell carcinoma of oropharynx
Squamous cell carcinoma of oropharynx 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 155 33 0.010 None 1.000 1 2018 2018
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2019 2019
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 320 215 0.010 None 1.000 1 2015 2015
CUI: C0342153
Disease: Congenital thyroid hypoplasia
Congenital thyroid hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 4 5 0.010 None 1.000 1 2014 2014
CUI: C0342257
Disease: Complications of Diabetes Mellitus
Complications of Diabetes Mellitus 		group Endocrine System Diseases Disease or Syndrome 240 35 0.010 None 1.000 1 2017 2017
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 105 49 0.010 None 1.000 1 2019 2019
CUI: C0362046
Disease: Prediabetes syndrome
Prediabetes syndrome 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 205 16 0.010 None 1.000 1 1 2014 2014
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2019 2019
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Acquired Abnormality 12 1 0.010 None < 0.001 1 2014 2014
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.010 None 1.000 1 2019 2019
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 207 26 0.010 None 1.000 1 2015 2015
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 90 91 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 2015 2015
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		disease Respiratory Tract Diseases Disease or Syndrome 352 64 0.010 None 1.000 1 2017 2017
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.010 None 1.000 1 2017 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.010 None 1.000 1 2017 2017