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: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 1 9 0.810 strong 1.000 6 9 2002 2019
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 61 24 0.620 strong 1.000 2 2015 2017
CUI: C4540511
Disease: GELEOPHYSIC DYSPLASIA 3
GELEOPHYSIC DYSPLASIA 3
disease Congenital Abnormality 1 3 0.600 strong 1.000 1 3 2016 2016
CUI: C0020608
Disease: Hypodontia
Hypodontia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 218 48 0.410 None 1.000 2 2009 2015
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
disease Musculoskeletal Diseases Disease or Syndrome 164 121 0.400 None 1.000 2 1 2018 2019
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome
disease Cardiovascular Diseases Disease or Syndrome 111 29 0.400 None 1.000 1 2015 2015
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 21 31 0.320 None 1.000 2 2 2016 2019
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.310 None 1.000 3 2002 2017
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.310 None 1.000 3 2002 2017
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 10 7 0.310 None 1.000 1 2016 2016
CUI: C0432228
Disease: Brachyolmia
Brachyolmia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 3 0.310 None 1.000 1 2015 2015
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis
disease Musculoskeletal Diseases Disease or Syndrome 82 1 0.300 None 1.000 2 2002 2002
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 41 15 0.300 None 1.000 2 2009 2015
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 10 13 0.300 None 1.000 2 2009 2015
CUI: C0018273
Disease: Growth Disorders
Growth Disorders
group Pathological Conditions, Signs and Symptoms Pathologic Function 39 0.300 None 1.000 2 2009 2015
CUI: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans
disease Musculoskeletal Diseases Disease or Syndrome 96 1 0.300 None 1.000 2 2002 2002
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.300 None 1.000 1 2002 2002
CUI: C0005940
Disease: Bone Diseases
Bone Diseases
group Musculoskeletal Diseases Disease or Syndrome 317 10 0.300 None 1.000 1 2009 2009
CUI: C2751297
Disease: Tooth Agenesis, Selective, 6
Tooth Agenesis, Selective, 6
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 1 0.300 None 0
Hemivertebra fusion or failure of segmentation with scoliosis
phenotype Pathologic Function 1 0.200 None 1.000 4 2002 2015
Congenital scoliosis due to bony malformation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 0.200 None 1.000 4 2002 2015
CUI: C4082304
Disease: Oligodontia
Oligodontia
disease Congenital Abnormality 62 34 0.110 None 1.000 1 2009 2009
CUI: C0013404
Disease: Dyspnea
Dyspnea
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 222 26 0.110 None 1.000 1 2012 2012
Mixed anxiety and depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 146 13 0.100 None 0.989 90 2015 2020
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.100 None 1.000 23 2009 2020