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: C0341059
Disease: Lip pit
Lip pit
disease Anatomical Abnormality 14 0.020 None 1.000 2 2016 2016
CUI: C0149779
Disease: Somatization
Somatization
disease Mental or Behavioral Dysfunction 21 5 0.010 None 1.000 1 2019 2019
CUI: C0424139
Disease: Anxiety and fear
Anxiety and fear
disease Mental or Behavioral Dysfunction 51 0.010 None 1.000 1 2017 2017
Cleft Lip with or without Cleft Palate
disease Congenital Abnormality 99 50 0.010 None 1.000 1 2016 2016
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2019 2019
CUI: C1285498
Disease: Vegetation
Vegetation
disease Anatomical Abnormality 67 0.010 None 1.000 1 2019 2019
CUI: C3266076
Disease: Orofacial cleft
Orofacial cleft
disease Congenital Abnormality 18 2 0.010 None 1.000 1 2014 2014
CUI: C3662483
Disease: Allergic sensitization
Allergic sensitization
disease Disease or Syndrome 85 26 0.010 None 1.000 1 2006 2006
CUI: C0232608
Disease: Nasal regurgitation
Nasal regurgitation
phenotype Sign or Symptom 14 0.100 None 0
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla
disease Congenital Abnormality 113 5 0.100 None 0
CUI: C0454642
Disease: Receptive language delay
Receptive language delay
disease Mental or Behavioral Dysfunction 9 5 0.100 None 0
CUI: C0566620
Disease: Nasal voice
Nasal voice
phenotype Finding 93 3 0.100 None 0
CUI: C1837142
Disease: Poor suck
Poor suck
phenotype Finding 103 31 0.100 None 0
CUI: C1861544
Disease: Lower lip pit
Lower lip pit
phenotype Finding 3 1 0.100 None 0
CUI: C1865313
Disease: Speech articulation difficulties
Speech articulation difficulties
phenotype Finding 23 3 0.100 None 0
CUI: C4023457
Disease: Short face
Short face
phenotype Anatomical Abnormality 6 0.100 None 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease Congenital Abnormality 97 7 0.100 None 0
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.010 None < 0.001 1 2019 2019
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.010 None 1.000 1 2019 2019
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 276 69 0.010 None 1.000 1 2017 2017
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2017 2017
CUI: C0344315
Disease: Depressed mood
Depressed mood
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2019 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2019 2019
CUI: C0040963
Disease: Tricuspid Valve Stenosis
Tricuspid Valve Stenosis
disease Cardiovascular Diseases Disease or Syndrome 26 1 0.010 None 1.000 1 2018 2018
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 3 1 2014 2018