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: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.010 None 1.000 1 2019 2019
CUI: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2017 2017
CUI: C3888090
Disease: Early onset torsion dystonia
Early onset torsion dystonia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 22 1 0.010 None 1.000 1 2009 2009
CUI: C0234379
Disease: Resting Tremor
Resting Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 57 5 0.010 None 1.000 1 2014 2014
CUI: C0234253
Disease: Rest pain
Rest pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 25 1 0.010 None 1.000 1 2018 2018
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 134 0.010 None 1.000 1 2010 2010
CUI: C0206617
Disease: Cardiovirus Infections
Cardiovirus Infections 		group Infections Disease or Syndrome 10 0.010 None 1.000 1 2017 2017
CUI: C0205671
Disease: Infections, Arenavirus
Infections, Arenavirus 		group Infections Disease or Syndrome 12 0.010 None 1.000 1 2018 2018
CUI: C0154676
Disease: Organic writer's cramp
Organic writer's cramp 		disease Nervous System Diseases Disease or Syndrome 9 3 0.010 None 1.000 1 2009 2009
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 137 13 0.010 None < 0.001 1 2017 2017
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.010 None 1.000 1 2010 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.010 None 1.000 1 2014 2014
CUI: C0302180
Disease: Condyloma
Condyloma 		disease Disease or Syndrome 40 0.010 None 1.000 1 2019 2019
CUI: C3550973
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 19 28 0.010 None 1.000 1 2010 2010
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 2019 2019
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.010 None 1.000 1 2019 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2017 2017
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		group Cardiovascular Diseases Disease or Syndrome 319 128 0.010 None 1.000 1 2017 2017
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12 		disease Nervous System Diseases Disease or Syndrome 9 25 0.010 None 1.000 1 2010 2010
CUI: C1997740
Disease: Segmental dystonia
Segmental dystonia 		disease Nervous System Diseases Disease or Syndrome 15 9 0.010 None 1.000 1 1 2014 2014
CUI: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile 		disease Nervous System Diseases Disease or Syndrome 5 4 0.010 None 1.000 1 2015 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2019 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2017 2017
CUI: C2931845
Disease: Neurodegeneration with brain iron accumulation (NBIA)
Neurodegeneration with brain iron accumulation (NBIA) 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 40 2 0.010 None 1.000 1 2010 2010
CUI: C2945695
Disease: Limb ischemia
Limb ischemia 		disease Disease or Syndrome 171 3 0.010 None 1.000 1 2017 2017