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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.090 None 1.000 9 2002 2020
CUI: C1334708
Disease: Metaplastic carcinoma of breast
Metaplastic carcinoma of breast
disease Neoplastic Process 31 0.220 None 1.000 2 2017 2018
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.020 None 1.000 2 2018 2019
CUI: C0042693
Disease: Violence
Violence
phenotype Mental or Behavioral Dysfunction 70 6 0.010 None 1.000 1 2018 2018
CUI: C0920652
Disease: skin irritant
skin irritant
phenotype Sign or Symptom 4 0.010 None 1.000 1 2001 2001
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 1993 1993
androgen independent prostate cancer
disease Neoplastic Process 190 5 0.010 None 1.000 1 2008 2008
CUI: C3495798
Disease: Periodontal inflammation
Periodontal inflammation
disease Disease or Syndrome 82 2 0.010 None 1.000 1 2018 2018
CUI: C3495949
Disease: Locally advanced breast cancer
Locally advanced breast cancer
disease Neoplastic Process 71 3 0.010 None 1.000 1 2007 2007
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None < 0.001 1 2010 2010
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms
phenotype Behavior and Behavior Mechanisms Sign or Symptom 419 120 0.020 None 1.000 2 2018 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1551 382 0.010 None 1.000 1 2006 2006
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 114 14 0.010 None 1.000 1 2017 2017
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 14 0.010 None 1.000 1 2015 2015
CUI: C0039075
Disease: Syndactyly
Syndactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 53 13 0.010 None 1.000 1 2005 2005
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 74 6 0.010 None 1.000 1 2003 2003
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 20 1 0.010 None 1.000 1 2005 2005
Greig cephalopolysyndactyly syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 14 2 0.010 None 1.000 1 2012 2012
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 21 1 0.010 None 1.000 1 2005 2005
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 100 4 0.010 None 1.000 1 2012 2012
Spondyloepiphyseal dysplasia, congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 12 3 0.210 None 1.000 1 2005 2015
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 68 25 0.010 None 1.000 1 3 2018 2018
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 2012 2012
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 0.020 None 1.000 2 1999 2012
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 177 133 0.020 None 1.000 2 2004 2006