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: C4225428
Disease: ANEMIA, SIDEROBLASTIC, 4
ANEMIA, SIDEROBLASTIC, 4
disease Disease or Syndrome 1 3 0.600 None 1.000 1 3 2015 2015
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME
disease Disease or Syndrome 2 5 0.720 None 1.000 3 3 1999 2019
Disorder of cellular component of blood
group Pathological Conditions, Signs and Symptoms Disease or Syndrome 2 0.010 None 1.000 1 2016 2016
Autosomal recessive sideroblastic anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 2 0.300 None 1.000 1 2015 2015
CUI: C0795910
Disease: COWCHOCK SYNDROME
COWCHOCK SYNDROME
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 2017 2017
CUI: C4021251
Disease: Dysplasia of the femoral head
Dysplasia of the femoral head
phenotype Finding 3 2 0.100 None 0
CUI: C1838180
Disease: CODAS syndrome
CODAS syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 4 12 0.010 None 1.000 1 2017 2017
CUI: C4523967
Disease: Fracture infection
Fracture infection
disease Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C0156409
Disease: Postmenopausal atrophic vaginitis
Postmenopausal atrophic vaginitis
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C0221392
Disease: Atrophic Vaginitis
Atrophic Vaginitis
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C1313952
Disease: Respiration intermittent
Respiration intermittent
phenotype Sign or Symptom 6 0.010 None 1.000 1 2017 2017
CUI: C3203533
Disease: Psychological Trauma
Psychological Trauma
disease Mental Disorders Mental or Behavioral Dysfunction 8 0.010 None 1.000 1 2017 2017
CUI: C1720775
Disease: Renal tubular necrosis
Renal tubular necrosis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
CUI: C0426428
Disease: Bifid nasal tip
Bifid nasal tip
phenotype Finding 10 0.100 None 0
CUI: C3887547
Disease: Central sleep apnea syndrome
Central sleep apnea syndrome
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 11 0.010 None 1.000 1 2017 2017
CUI: C1834954
Disease: Coronal cleft vertebrae
Coronal cleft vertebrae
phenotype Finding 11 0.100 None 0
CUI: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome
disease Skin and Connective Tissue Diseases Disease or Syndrome 15 0.010 None 1.000 1 2009 2009
CUI: C0008039
Disease: Cheyne-Stokes Respiration
Cheyne-Stokes Respiration
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 16 0.010 None 1.000 1 2017 2017
CUI: C4739246
Disease: Apnea+hypopnea
Apnea+hypopnea
disease Disease or Syndrome 17 3 0.010 None 1.000 1 2017 2017
CUI: C0002896
Disease: Sideroblastic anemia
Sideroblastic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 22 11 0.600 strong 1.000 1 2015 2015
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 23 1 0.010 None 1.000 1 2004 2004
CUI: C0002963
Disease: Angina Pectoris, Variant
Angina Pectoris, Variant
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 26 4 0.010 None 1.000 1 2018 2018
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 27 0.100 None 0
CUI: C0231230
Disease: Fatigability
Fatigability
phenotype Sign or Symptom 29 4 0.010 None 1.000 1 2019 2019
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 34 69 0.010 None 1.000 1 2004 2004