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 0.120 None 1.000 2 1 2006 2015
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2017 2017
CUI: C0221358
Disease: Long narrow head
Long narrow head
disease Congenital Abnormality 154 26 0.110 None 1.000 1 2011 2011
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 2 2018 2018
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay
disease Mental or Behavioral Dysfunction 11 7 0.010 None 1.000 1 2002 2002
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome
disease Disease or Syndrome 52 0.010 None 1.000 1 2014 2014
CUI: C3151380
Disease: SCHIZOPHRENIA 15
SCHIZOPHRENIA 15
disease Mental or Behavioral Dysfunction 2 3 0.400 None 1.000 1 3 2010 2010
Behavioral and psychological symptoms of dementia
phenotype Sign or Symptom 72 9 0.010 None 1.000 1 2017 2017
CUI: C0152421
Disease: Macrotia
Macrotia
disease Congenital Abnormality 188 18 0.100 None 0
CUI: C0231274
Disease: Intolerant of heat
Intolerant of heat
phenotype Pathologic Function 19 7 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 473 62 0.100 None 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose
phenotype Finding 123 13 0.100 None 0
CUI: C0241240
Disease: Tall stature
Tall stature
phenotype Finding 79 14 0.100 None 0
CUI: C0426870
Disease: Large hand
Large hand
phenotype Finding 35 7 0.100 None 0
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype Finding 64 4 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 417 30 0.100 None 0
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype Finding 75 24 0.100 None 0
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype Finding 42 1 0.100 None 0
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation
phenotype Finding 41 4 0.100 None 0
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges
phenotype Finding 41 10 0.100 None 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 211 411 0.100 None 0 2
CUI: C1844505
Disease: Pointed chin
Pointed chin
phenotype Finding 71 13 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 429 29 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease Congenital Abnormality 284 39 0.100 None 0
CUI: C1853237
Disease: Isolated cases
Isolated cases
phenotype Finding 111 0.100 None 0