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: C0153349
Disease: Malignant neoplasm of tongue
Malignant neoplasm of tongue 		disease Neoplasms; Stomatognathic Diseases Neoplastic Process 155 1 0.010 None 1.000 1 2019 2019
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification 		disease Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome 79 4 0.010 None 1.000 1 2014 2014
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2011 2011
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain 		disease Neoplasms; Nervous System Diseases Neoplastic Process 294 16 0.010 None 1.000 1 2017 2017
CUI: C0424790
Disease: Rigor - Temperature-associated observation
Rigor - Temperature-associated observation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 24 0.010 None 1.000 1 2019 2019
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 458 92 0.010 None 1.000 1 2019 2019
CUI: C1956097
Disease: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 34 2 0.010 None 1.000 1 2014 2014
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 517 12 0.010 None 1.000 1 2012 2012
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 9 12 0.300 None 1.000 1 2012 2012
CUI: C0279650
Disease: Childhood Acute Megakaryoblastic Leukemia
Childhood Acute Megakaryoblastic Leukemia 		disease Neoplasms Neoplastic Process 45 4 0.010 None 1.000 1 2009 2009
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2017 2017
CUI: C0342199
Disease: Iodine deficiency syndrome
Iodine deficiency syndrome 		disease Endocrine System Diseases Disease or Syndrome 22 4 0.010 None 1.000 1 2018 2018
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 509 12 0.010 None 1.000 1 2012 2012
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2017 2017
CUI: C0279632
Disease: Adult Acute Megakaryoblastic Leukemia
Adult Acute Megakaryoblastic Leukemia 		disease Neoplasms Neoplastic Process 38 4 0.010 None 1.000 1 2009 2009
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		disease Neoplasms Neoplastic Process 762 24 0.010 None 1.000 1 2017 2017
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		disease Neoplasms Neoplastic Process 771 25 0.010 None 1.000 1 2017 2017
CUI: C0269102
Disease: Endometrioma
Endometrioma 		disease Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 279 4 0.300 None 1.000 1 2012 2012
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		disease Neoplasms Neoplastic Process 724 22 0.010 None 1.000 1 2017 2017
CUI: C0558353
Disease: Tongue Carcinoma
Tongue Carcinoma 		disease Neoplasms; Stomatognathic Diseases Neoplastic Process 157 2 0.010 None 1.000 1 2019 2019
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		disease Neoplasms Neoplastic Process 2208 151 0.010 None 1.000 1 2016 2016
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.010 None 1.000 1 2008 2008
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 481 47 0.010 None 1.000 1 2016 2016
CUI: C1527344
Disease: Dysphonia
Dysphonia 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Mental or Behavioral Dysfunction 77 4 0.010 None 1.000 1 2019 2019
CUI: C1846707
Disease: SPINOCEREBELLAR ATAXIA 17
SPINOCEREBELLAR ATAXIA 17 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 28 0.010 None 1.000 1 2011 2011