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: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.410 strong 1.000 2 2012 2019
Morphological abnormality of the central nervous system
group Anatomical Abnormality 10 7 0.300 strong 1.000 1 2012 2012
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
disease Anatomical Abnormality 148 18 0.300 None 1.000 1 2012 2012
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality
disease Finding 24 5 0.300 None 1.000 1 2012 2012
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype Anatomical Abnormality 56 29 0.300 None 1.000 1 2012 2012
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2018 2018
CUI: C0152421
Disease: Macrotia
Macrotia
disease Congenital Abnormality 188 18 0.100 None 0
CUI: C0221358
Disease: Long narrow head
Long narrow head
disease Congenital Abnormality 154 26 0.100 None 0
CUI: C0239676
Disease: High forehead
High forehead
phenotype Finding 211 17 0.100 None 0
CUI: C0241240
Disease: Tall stature
Tall stature
phenotype Finding 79 14 0.100 None 0
CUI: C0266054
Disease: Premature tooth eruption
Premature tooth eruption
phenotype Finding 12 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 0
CUI: C0426415
Disease: Large nose
Large nose
phenotype Finding 70 7 0.100 None 0
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype Finding 64 4 0.100 None 0
CUI: C1836047
Disease: Long face
Long face
phenotype Finding 182 12 0.100 None 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype Finding 159 25 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge
phenotype Finding 117 1 0.100 None 0
Aplasia/Hypoplasia of the corpus callosum
phenotype Finding 108 8 0.100 None 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype Finding 305 22 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
phenotype Finding 427 32 0.100 None 0
Abnormality of immune system physiology
phenotype Pathologic Function 42 1 0.100 None 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.100 None 0
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 25 0.300 None 1.000 1 2015 2015
CUI: C0266298
Disease: Accessory kidney
Accessory kidney
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 20 1 0.100 None 0