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: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2003 2015
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2019 2019
CUI: C0238790
Disease: bone destruction
bone destruction
disease Disease or Syndrome 234 3 0.010 None 1.000 1 2018 2018
CUI: C0747845
Disease: early pregnancy
early pregnancy
phenotype Disease or Syndrome 273 8 0.010 None 1.000 1 2020 2020
COLORECTAL CANCER, SUSCEPTIBILITY TO, 4
phenotype Finding 2 0.300 None 1.000 1 2006 2006
COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 15
phenotype Finding 2 0.300 None 1.000 1 2006 2006
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
disease Anatomical Abnormality 148 18 0.010 None 1.000 1 2019 2019
Chronic rhinosinusitis with nasal polyps
disease Neoplastic Process 168 1 0.010 None 1.000 1 2019 2019
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis
disease Disease or Syndrome 112 2 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: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype Finding 271 106 0.100 None 0
CUI: C0426891
Disease: Broad thumbs
Broad thumbs
phenotype Finding 67 11 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0578477
Disease: Duodenal polyposis
Duodenal polyposis
disease Neoplastic Process 5 2 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype Finding 129 21 0.100 None 0
CUI: C1839783
Disease: Large forehead
Large forehead
phenotype Finding 14 1 0.100 None 0
CUI: C1844530
Disease: Midclavicular hypoplasia
Midclavicular hypoplasia
phenotype Finding 3 0.100 None 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE
phenotype Finding 175 0.100 None 0
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0
phenotype Finding 109 2 0.100 None 0
CUI: C2732838
Disease: Neoplasm of skeletal system
Neoplasm of skeletal system
disease Neoplastic Process 17 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0