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: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 198 7 0.750 1.000 5 1 1995 2016
Congenital defect of skull and scalp
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 7 1 0.300 1 1 2013 2013
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 5 4 0.300 0
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 56 2 0.300 0
CUI: C1706004
Disease: Anhydrotic Ectodermal Dysplasias
Anhydrotic Ectodermal Dysplasias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 18 39 0.300 0
CUI: C4025787
Disease: Calvarial skull defect
Calvarial skull defect
phenotype Anatomical Abnormality 19 0.100 0
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 162 49 0.100 0
Aplasia cutis congenita over the scalp vertex
disease Congenital Abnormality 2 0.100 0
Congenital localized absence of skin
disease Congenital Abnormality 6 0.100 0
CUI: C4280596
Disease: Calvarial defect
Calvarial defect
phenotype Finding 18 0.100 0
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer
phenotype Skin and Connective Tissue Diseases Disease or Syndrome 83 0.100 0
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
disease Bacterial Infections and Mycoses Disease or Syndrome 601 124 0.060 1.000 6 2002 2018
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Congenital Abnormality 316 19 0.040 1.000 4 1995 2016
CUI: C0812413
Disease: Malignant Pleural Mesothelioma
Malignant Pleural Mesothelioma
disease Neoplastic Process 259 3 0.030 1.000 3 2006 2012
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome
disease Disease or Syndrome 150 15 0.020 1.000 2 2001 2002
CUI: C0025500
Disease: Mesothelioma
Mesothelioma
disease Neoplasms Neoplastic Process 382 3 0.020 1.000 2 2013 2014
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2448 409 0.020 1.000 2 1995 2010
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 334 2 0.020 1.000 2 2010 2014
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
disease Endocrine System Diseases; Neoplasms Neoplastic Process 184 39 0.020 1.000 2 2012 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.020 1.000 2 2011 2014
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
disease Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 875 64 0.020 1.000 2 2012 2014
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplastic Process 2475 735 0.020 1.000 2 1995 2010
Corpus callosum agenesis neuronopathy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 3 29 0.020 1.000 2 2007 2008
CUI: C0867389
Disease: Chronic graft-versus-host disease
Chronic graft-versus-host disease
disease Disease or Syndrome 105 8 0.020 1.000 2 2005 2006
Diabetes Mellitus, Non-Insulin-Dependent
disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1671 1522 0.020 1.000 2 1998 2002