Source: BEFREE ×
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: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 33 13 0.800 definitive 0.935 30 1 1994 2017
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 532 215 0.420 None 1.000 2 1 2005 2014
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 128 13 0.310 None 1.000 1 1 2002 2002
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 377 64 0.110 None 1.000 1 2005 2005
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 140 6 0.110 None 1.000 1 1996 2014
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 179 52 0.110 None 1.000 1 2014 2014
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		group Mental Disorders Mental or Behavioral Dysfunction 331 18 0.050 None 1.000 5 1999 2014
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 807 144 0.020 None 1.000 2 2016 2017
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 752 118 0.020 None 1.000 2 2016 2017
CUI: C0860603
Disease: Anxiety symptoms
Anxiety symptoms 		phenotype Sign or Symptom 110 10 0.020 None 1.000 2 2018 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10153 1571 0.020 None 1.000 2 2009 2012
CUI: C0013146
Disease: Drug abuse
Drug abuse 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 300 38 0.020 None 1.000 2 2017 2019
CUI: C0744673
Disease: heart inflammation
heart inflammation 		disease Disease or Syndrome 8 0.010 None 1.000 1 2017 2017
CUI: C0685628
Disease: Full supernumerary rib
Full supernumerary rib 		disease Congenital Abnormality 2 0.010 None 1.000 1 2016 2016
CUI: C4054695
Disease: Familial glucocorticoid deficiency
Familial glucocorticoid deficiency 		disease Disease or Syndrome 9 4 0.010 None 1.000 1 2007 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6500 2145 0.010 None 1.000 1 2009 2009
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6241 355 0.010 None 1.000 1 2009 2009
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		disease Neoplasms Neoplastic Process 2247 151 0.010 None 1.000 1 2000 2000
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 174 51 0.010 None 1.000 1 2014 2014
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2012 2012
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2016 2016
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 8 0.010 None < 0.001 1 2000 2000
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 74 7 0.010 None 1.000 1 2018 2018
CUI: C1739363
Disease: Prostatic Hypertrophy
Prostatic Hypertrophy 		disease Male Urogenital Diseases Disease or Syndrome 22 0.010 None 1.000 1 2017 2017
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 257 53 0.010 None 1.000 1 2014 2014