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.
BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2
disease Disease or Syndrome 1 1 0.400 None 0 1
CUI: C1842680
Disease: Small earlobe
Small earlobe
phenotype Finding 17 1 0.100 None 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip
phenotype Finding 125 8 0.100 None 0
CUI: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple
disease Congenital Abnormality 33 1 0.100 None 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum
phenotype Finding 105 10 0.100 None 0
CUI: C0425795
Disease: Absent nipple (finding)
Absent nipple (finding)
phenotype Finding 7 0.100 None 0
CUI: C0175755
Disease: Congenital absent nipple
Congenital absent nipple
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 7 0.410 limited 1.000 1 2014 2014
Congenital absence of breast with absent nipple
disease Skin and Connective Tissue Diseases Congenital Abnormality 1 0.310 None 1.000 1 2014 2014
CUI: C0235874
Disease: Disease Exacerbation
Disease Exacerbation
phenotype Pathological Conditions, Signs and Symptoms Finding 166 0.300 None 1.000 1 2011 2011
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 312 119 0.300 None 1.000 1 2011 2011
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 420 12 0.300 None 1.000 1 2015 2015
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 820 55 0.300 None 1.000 1 2011 2011
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.300 None 1.000 1 2011 2011
CUI: C3160814
Disease: Cannabis use
Cannabis use
disease Mental or Behavioral Dysfunction 74 44 0.100 None 1.000 1 2 2019 2019
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
phenotype Laboratory Procedure 264 1463 0.100 None 1.000 1 1 2019 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.100 None 1.000 1 1 2015 2015
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.100 None 1.000 1 1 2018 2018
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 453 235 0.010 None 1.000 1 2018 2018
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
disease Neoplastic Process 573 14 0.010 None 1.000 1 2000 2000
CUI: C0206093
Disease: Neuroectodermal Tumors
Neuroectodermal Tumors
disease Neoplasms Neoplastic Process 56 0.010 None 1.000 1 2000 2000
CUI: C0085411
Disease: Angiodysplasia
Angiodysplasia
disease Cardiovascular Diseases Disease or Syndrome 7 0.010 None 1.000 1 2018 2018
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive
disease Neoplasms Neoplastic Process 84 12 0.010 None 1.000 1 2006 2006
CUI: C0042164
Disease: Uveitis
Uveitis
disease Eye Diseases Disease or Syndrome 247 43 0.010 None 1.000 1 2017 2017
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1164 135 0.010 None 1.000 1 2019 2019