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: C0001193
Disease: Apert syndrome
Apert syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 20 24 0.010 None 1.000 1 2018 2018
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 28 0.010 None 1.000 1 2013 2013
CUI: C0729531
Disease: Viral respiratory infection
Viral respiratory infection 		group Infections; Respiratory Tract Diseases Disease or Syndrome 33 0.010 None 1.000 1 2019 2019
CUI: C0302180
Disease: Condyloma
Condyloma 		disease Disease or Syndrome 40 0.010 None 1.000 1 2019 2019
CUI: C0018129
Disease: Graft Rejection
Graft Rejection 		phenotype Organ or Tissue Function 47 0.200 None 1.000 1 2007 2007
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 50 6 0.010 None 1.000 1 2014 2014
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 52 22 0.010 None 1.000 1 2013 2013
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction 		disease Endocrine System Diseases Disease or Syndrome 52 5 0.010 None 1.000 1 2012 2012
CUI: C0263630
Disease: Hypertrophic disorder of skin, unspecified
Hypertrophic disorder of skin, unspecified 		group Skin and Connective Tissue Diseases Disease or Syndrome 62 1 0.010 None 1.000 1 2013 2013
CUI: C0340076
Disease: Asthmatic pulmonary eosinophilia
Asthmatic pulmonary eosinophilia 		disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 62 1 0.010 None 1.000 1 2007 2007
CUI: C3888088
Disease: SMITH-MCCORT DYSPLASIA 1
SMITH-MCCORT DYSPLASIA 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 62 3 0.010 None 1.000 1 2018 2018
CUI: C0020503
Disease: Hyperparathyroidism, Secondary
Hyperparathyroidism, Secondary 		disease Endocrine System Diseases Disease or Syndrome 68 4 0.230 None 1.000 3 2009 2017
CUI: C0034068
Disease: Pulmonary Eosinophilia
Pulmonary Eosinophilia 		disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 70 1 0.010 None 1.000 1 2007 2007
CUI: C0009663
Disease: Condylomata Acuminata
Condylomata Acuminata 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 73 0.010 None 1.000 1 2019 2019
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 82 66 0.010 None 1.000 1 2012 2012
CUI: C0887833
Disease: Carcinoma, Pancreatic Ductal
Carcinoma, Pancreatic Ductal 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 82 0.010 None 1.000 1 2019 2019
CUI: C2945759
Disease: aggressive cancer
aggressive cancer 		phenotype Neoplastic Process 83 5 0.010 None 1.000 1 2019 2019
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		phenotype Endocrine System Diseases Disease or Syndrome 90 10 0.010 None 1.000 1 2012 2012
CUI: C0205748
Disease: Dysplastic Nevus
Dysplastic Nevus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 104 7 0.010 None 1.000 1 2018 2018
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		phenotype Finding 104 203 0.100 None 1.000 1 1 2015 2015
CUI: C3811918
Disease: GRN-related frontotemporal dementia
GRN-related frontotemporal dementia 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 112 20 0.010 None 1.000 1 2011 2011
CUI: C0750974
Disease: Brain Tumor, Primary
Brain Tumor, Primary 		disease Neoplasms; Nervous System Diseases Neoplastic Process 122 8 0.010 None 1.000 1 2018 2018
CUI: C1851841
Disease: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 129 5 0.010 None 1.000 1 2014 2014
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 136 5 0.010 None 1.000 1 2018 2018
CUI: C4733095
Disease: HER2-negative breast cancer
HER2-negative breast cancer 		disease Neoplastic Process 160 18 0.010 None 1.000 1 2008 2008