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.
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
disease Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 45 9 0.990 strong 1.000 11 6 1999 2018
CUI: C0856830
Disease: Calcium pyrophosphate arthropathy
Calcium pyrophosphate arthropathy
disease Musculoskeletal Diseases Disease or Syndrome 5 4 0.750 strong 1.000 9 4 1999 2012
Calcium pyrophosphate deposition disease
disease Musculoskeletal Diseases Disease or Syndrome 34 5 0.500 None 1.000 19 2 2002 2018
CUI: C0265292
Disease: Schwartz-Lelek syndrome
Schwartz-Lelek syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 3 0.380 None 1.000 11 2001 2017
CUI: C0040427
Disease: Tooth Abnormalities
Tooth Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality 54 2 0.300 None 1.000 1 2007 2007
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.300 None 1.000 1 2007 2007
CUI: C0014175
Disease: Endometriosis
Endometriosis
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1188 274 0.300 None 1.000 1 2011 2011
CUI: C0524730
Disease: Odontome
Odontome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 10 0.300 None 1.000 1 2007 2007
CUI: C0269102
Disease: Endometrioma
Endometrioma
disease Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 279 4 0.300 None 1.000 1 2011 2011
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 86 6 0.300 limited 0
CUI: C3280616
Disease: CRANIOECTODERMAL DYSPLASIA 4
CRANIOECTODERMAL DYSPLASIA 4
disease Disease or Syndrome 2 2 0.200 None 1.000 1 2009 2009
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 8 2 0.200 None 1.000 1 2009 2009
CUI: C3279807
Disease: CRANIOECTODERMAL DYSPLASIA 3
CRANIOECTODERMAL DYSPLASIA 3
disease Disease or Syndrome 2 0.200 None 1.000 1 2009 2009
CUI: C0270824
Disease: Visual seizure
Visual seizure
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 209 0.200 None 1.000 1 2003 2003
Craniometaphyseal dysplasia, autosomal recessive type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 1 0.200 None 1.000 1 2009 2009
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.150 None 1.000 5 2004 2016
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.120 None 1.000 2 2003 2004
CUI: C0022408
Disease: Arthropathy
Arthropathy
group Musculoskeletal Diseases Disease or Syndrome 187 10 0.110 None 1.000 1 2004 2004
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 291 5 0.110 None 1.000 1 2010 2010
CUI: C0033802
Disease: Pseudogout
Pseudogout
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 15 5 0.100 None 1.000 11 2 2002 2016
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.100 None 1.000 3 3 2018 2019
CUI: C0040420
Disease: Tonometry
Tonometry
phenotype Diagnostic Procedure 206 573 0.100 None 1.000 2 2 2018 2018
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement
group Laboratory Procedure 53 92 0.100 None 1.000 1 1 2016 2016
CUI: C0202202
Disease: Protein measurement
Protein measurement
group Laboratory Procedure 75 422 0.100 None 1.000 1 1 2016 2016
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle
disease Eye Diseases Disease or Syndrome 130 236 0.100 None 1.000 1 1 2018 2018