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.
Congenital absence of breast with absent nipple
disease Skin and Connective Tissue Diseases Congenital Abnormality 1 0.310 None 1.000 1 2014 2014
BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2
disease Disease or Syndrome 1 1 0.400 None 0 1
CUI: C0752149
Disease: Headache, Intractable
Headache, Intractable
disease Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C0085411
Disease: Angiodysplasia
Angiodysplasia
disease Cardiovascular Diseases Disease or Syndrome 7 0.010 None 1.000 1 2018 2018
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
CUI: C0425795
Disease: Absent nipple (finding)
Absent nipple (finding)
phenotype Finding 7 0.100 None 0
CUI: C0344453
Disease: Macroprolactinoma
Macroprolactinoma
disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 9 0.010 None 1.000 1 2018 2018
CUI: C0346303
Disease: Thyrotroph adenoma
Thyrotroph adenoma
disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 11 0.010 None 1.000 1 2011 2011
CUI: C1842680
Disease: Small earlobe
Small earlobe
phenotype Finding 17 1 0.100 None 0
CUI: C0024586
Disease: Malignant Carcinoid Syndrome
Malignant Carcinoid Syndrome
disease Neoplasms Disease or Syndrome 25 0.020 None 1.000 2 2017 2018
CUI: C0410005
Disease: Nodular fasciitis
Nodular fasciitis
disease Neoplasms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 25 0.010 None 1.000 1 2006 2006
CUI: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple
disease Congenital Abnormality 33 1 0.100 None 0
CUI: C0018979
Disease: Hemianopsia
Hemianopsia
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 41 0.010 None 1.000 1 2019 2019
CUI: C1519678
Disease: Tumor Expansion
Tumor Expansion
phenotype Neoplastic Process 46 0.010 None 1.000 1 2019 2019
CUI: C0020514
Disease: Hyperprolactinemia
Hyperprolactinemia
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 48 10 0.010 None 1.000 1 2018 2018
CUI: C0206093
Disease: Neuroectodermal Tumors
Neuroectodermal Tumors
disease Neoplasms Neoplastic Process 56 0.010 None 1.000 1 2000 2000
Growth Hormone-Secreting Pituitary Adenoma
disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 60 5 0.010 None 1.000 1 2019 2019
CUI: C4723838
Disease: Metastatic Breast Carcinoma
Metastatic Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 61 1 0.010 None 1.000 1 2013 2013
CUI: C0009376
Disease: Colonic Polyps
Colonic Polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 69 8 0.010 None 1.000 1 1996 1996
CUI: C0021167
Disease: Incontinence
Incontinence
disease Nervous System Diseases Disease or Syndrome 70 1 0.010 None 1.000 1 2019 2019
CUI: C3160814
Disease: Cannabis use
Cannabis use
disease Mental or Behavioral Dysfunction 74 44 0.100 None 1.000 1 2 2019 2019
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive
disease Neoplasms Neoplastic Process 84 12 0.010 None 1.000 1 2006 2006
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum
phenotype Finding 105 10 0.100 None 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip
phenotype Finding 125 8 0.100 None 0
CUI: C0001206
Disease: Acromegaly
Acromegaly
disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 138 25 0.080 None 1.000 8 2002 2020