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 0.030 None 1.000 3 2 2009 2018
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
Cleft Lip with or without Cleft Palate
disease Congenital Abnormality 99 50 0.010 None 1.000 1 2014 2014
CUI: C0948303
Disease: Carcinoma of peritoneum
Carcinoma of peritoneum
disease Neoplastic Process 10 0.010 None 1.000 1 2016 2016
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 2019
CUI: C1698259
Disease: HCV coinfection
HCV coinfection
disease Disease or Syndrome 37 5 0.010 None 1.000 1 2014 2014
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity
phenotype Finding 64 5 0.400 strong 1.000 1 2017 2017
CUI: C2347751
Disease: Adult Grade I Meningioma
Adult Grade I Meningioma
disease Neoplastic Process 6 1 0.010 None 1.000 1 1 2018 2018
CUI: C2347760
Disease: Childhood Grade I Meningioma
Childhood Grade I Meningioma
disease Neoplastic Process 6 1 0.010 None 1.000 1 1 2018 2018
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype Finding 34 0.300 strong 1.000 1 2005 2005
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2012 2012
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
disease Congenital Abnormality 181 4 0.100 None 0
CUI: C0221358
Disease: Long narrow head
Long narrow head
disease Congenital Abnormality 154 26 0.100 None 0
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube
phenotype Anatomical Abnormality 22 0.100 None 0
CUI: C0342526
Disease: Absent testes
Absent testes
phenotype Finding 24 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure
phenotype Finding 216 16 0.100 None 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
phenotype Finding 91 16 0.100 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 417 30 0.100 None 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear
disease Anatomical Abnormality 95 8 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: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia
phenotype Finding 73 2 0.100 None 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead
phenotype Finding 149 5 0.100 None 0