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: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure)
phenotype Laboratory Procedure 74 119 0.100 None 1.000 1 1 2019 2019
CUI: C0008487
Disease: Chordoma
Chordoma
disease Neoplasms Neoplastic Process 140 3 0.100 None 0 2
CUI: C0025286
Disease: Meningioma
Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 634 43 0.100 None 0
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 295 70 0.020 None 1.000 2 2015 2016
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.020 None 1.000 2 2015 2016
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 190 75 0.020 None 1.000 2 2015 2016
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.020 None 1.000 2 2015 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 2019 2019
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
disease Neoplasms Neoplastic Process 385 7 0.010 None 1.000 1 2007 2007
CUI: C0334587
Disease: Astroblastoma
Astroblastoma
disease Neoplasms Neoplastic Process 6 4 0.010 None 1.000 1 2018 2018
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 2018 2018
Cytogenetically normal acute myeloid leukemia
disease Neoplasms Neoplastic Process 91 9 0.010 None 1.000 1 2009 2009
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.010 None 1.000 1 2015 2015
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
group Hemic and Lymphatic Diseases Neoplastic Process 365 43 0.010 None 1.000 1 1995 1995
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 1995 1995
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process 127 49 0.010 None 1.000 1 2014 2014
CUI: C0220621
Disease: Childhood Acute Myeloid Leukemia
Childhood Acute Myeloid Leukemia
disease Neoplasms Neoplastic Process 215 6 0.010 None 1.000 1 2018 2018
CUI: C0259785
Disease: Malignant Meningioma
Malignant Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 49 0.010 None 1.000 1 2014 2014
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 996 25 0.010 None 1.000 1 2018 2018
CUI: C0206715
Disease: Neoplasms, Neuroepithelial
Neoplasms, Neuroepithelial
group Neoplasms Neoplastic Process 46 5 0.010 None 1.000 1 2018 2018
Acute myeloid leukemia, minimal differentiation
disease Neoplasms Neoplastic Process 33 0.010 None 1.000 1 2007 2007
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 1997 1997