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.
Van Maldergem Wetzburger Verloes syndrome
disease Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 2 4 0.700 2 4 2013 2014
CUI: C1843003
Disease: MITRAL VALVE PROLAPSE, MYXOMATOUS 2
MITRAL VALVE PROLAPSE, MYXOMATOUS 2
disease Cardiovascular Diseases Disease or Syndrome 1 2 0.600 2 2 2003 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 strong 1 2014 2014
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome
disease Cardiovascular Diseases Disease or Syndrome 63 4 0.310 1.000 1 2015 2015
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.300 1 1 2006 2006
Heterotopia, Periventricular, Autosomal Recessive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 2 0.300 1 2014 2014
CUI: C0340364
Disease: Familial mitral valve prolapse
Familial mitral valve prolapse
disease Congenital Abnormality 1 0.300 0
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 257 440 0.100 1 1 2009 2009
CUI: C1840309
Disease: Short 4th metacarpal
Short 4th metacarpal
phenotype Finding 8 0.100 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead
phenotype Finding 61 1 0.100 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel
phenotype Finding 57 2 0.100 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Finding 632 17 0.100 0
CUI: C1858085
Disease: Malar flattening
Malar flattening
phenotype Anatomical Abnormality 159 1 0.100 0
CUI: C1839764
Disease: Broad flat nasal bridge
Broad flat nasal bridge
phenotype Finding 329 0.100 0
CUI: C1857130
Disease: Hypoplastic mandible condyle
Hypoplastic mandible condyle
phenotype Anatomical Abnormality 394 0.100 0
CUI: C1857079
Disease: Atretic auditory canal
Atretic auditory canal
disease Disease or Syndrome 38 0.100 0
CUI: C1856765
Disease: Irregular dentition
Irregular dentition
phenotype Finding 4 0.100 0
CUI: C1853383
Disease: Tented mouth
Tented mouth
phenotype Finding 37 0.100 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
phenotype Finding 157 0.100 0
CUI: C1850072
Disease: Tented upper lip
Tented upper lip
phenotype Finding 37 0.100 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion
phenotype Finding 37 0.100 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 332 4 0.100 0
CUI: C1848514
Disease: Short fourth metatarsal
Short fourth metatarsal
phenotype Finding 5 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C1840305
Disease: Absent external auditory canals
Absent external auditory canals
phenotype Finding 38 0.100 0