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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.120 None 1.000 4 3 2012 2019
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
disease Finding 166 374 0.100 None 1.000 2 2 2015 2019
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.100 None 1.000 2 2 2015 2019
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
disease Finding 166 370 0.100 None 1.000 2 2 2015 2019
Malignant neoplasm of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 173 375 0.100 None 1.000 2 2 2015 2019
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
phenotype Finding 165 368 0.100 None 1.000 2 2 2015 2019
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4
disease Disease or Syndrome 6 11 0.100 None 1.000 2 3 2012 2019
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
disease Finding 166 373 0.100 None 1.000 2 2 2015 2019
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.100 None 1.000 2 2 2015 2019
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.100 None 1.000 2 2 2015 2019
CUI: C1853738
Disease: Long eyelashes
Long eyelashes
phenotype Finding 83 17 0.100 None 1.000 1 1 2019 2019
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
phenotype Finding 223 19 0.100 None 1.000 1 1 2019 2019
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
phenotype Finding 141 14 0.100 None 1.000 1 1 2019 2019
CUI: C1969653
Disease: MUNGAN SYNDROME
MUNGAN SYNDROME
disease Digestive System Diseases; Neoplasms Disease or Syndrome 15 6 0.100 None 1.000 1 1 2015 2015
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype Finding 50 58 0.100 None 1.000 1 1 2019 2019
CUI: C4023424
Disease: Prominent digit pad
Prominent digit pad
phenotype Anatomical Abnormality 4 3 0.100 None 1.000 1 1 2019 2019
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease Eye Diseases Disease or Syndrome 595 57 0.100 None 1.000 1 1 2019 2019
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 211 411 0.100 None 1.000 1 1 2019 2019
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 452 213 0.100 None 1.000 1 1 2019 2019
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 586 53 0.100 None 1.000 1 1 2019 2019
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 239 31 0.100 None 1.000 1 1 2019 2019
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 1.000 1 1 2019 2019
Schizoaffective disorder, bipolar type
disease Mental Disorders Mental or Behavioral Dysfunction 17 10 0.100 None 1.000 1 1 2019 2019
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 78 14 0.100 None 1.000 1 1 2019 2019
CUI: C0431447
Disease: Synophrys
Synophrys
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 111 23 0.100 None 1.000 1 1 2019 2019