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: C4310782
Disease: PREMATURE OVARIAN FAILURE 12
PREMATURE OVARIAN FAILURE 12
disease Disease or Syndrome 2 1 0.400 None 0 1
CUI: C4310779
Disease: SPERMATOGENIC FAILURE 15
SPERMATOGENIC FAILURE 15
disease Disease or Syndrome 2 1 0.400 None 0 1
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia
disease Male Urogenital Diseases Disease or Syndrome 168 88 0.110 None 1.000 1 2015 2015
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.100 None 1.000 1 10 2017 2017
Increased circulating gonadotropin level
phenotype Nervous System Diseases; Endocrine System Diseases Finding 34 0.100 None 0
CUI: C2712334
Disease: Actual Aspiration
Actual Aspiration
phenotype Finding 18 8 0.100 None 0
CUI: C1963221
Disease: Aspiration, CTCAE
Aspiration, CTCAE
phenotype Finding 13 0.100 None 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.100 None 0
CUI: C4023106
Disease: Obstructive azoospermia
Obstructive azoospermia
disease Male Urogenital Diseases Disease or Syndrome 74 9 0.100 None 0
CUI: C2827071
Disease: Unintentional Material Aspiration
Unintentional Material Aspiration
phenotype Finding 13 0.100 None 0
CUI: C0700198
Disease: Pulmonary aspiration
Pulmonary aspiration
phenotype Respiratory Tract Diseases Pathologic Function 13 0.100 None 0
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease Eye Diseases Disease or Syndrome 685 663 0.100 None 0
CUI: C0241355
Disease: Small testicle
Small testicle
phenotype Finding 129 0.100 None 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 129 10 0.100 None 0
CUI: C0220787
Disease: Endotracheal aspiration
Endotracheal aspiration
phenotype Pathologic Function 13 0.100 None 0
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 299 90 0.020 None 1.000 2 2014 2016
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 333 115 0.020 None 1.000 2 2014 2016
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.010 None 1.000 1 2014 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2014 2014
CUI: C0747102
Disease: Ovarian failure
Ovarian failure
disease Endocrine System Diseases Disease or Syndrome 39 1 0.010 None 1.000 1 2011 2011