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: C0302246
Disease: Hexadactyly
Hexadactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 0.300 moderate 1.000 1 2007 2007
CUI: C4275062
Disease: Intestinal epithelial dysplasia
Intestinal epithelial dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 4 0.350 strong 1.000 5 2014 2019
CUI: C0423062
Disease: Intermittent divergent squint
Intermittent divergent squint
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C0032045
Disease: Placenta Disorders
Placenta Disorders
group Female Urogenital Diseases and Pregnancy Complications Pathologic Function 6 0.300 None 1.000 1 2014 2014
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome; Congenital Abnormality 14 11 0.010 None 1.000 1 2014 2014
CUI: C0022790
Disease: Krukenberg Tumor
Krukenberg Tumor
disease Neoplasms Neoplastic Process 15 0.010 None 1.000 1 2009 2009
Secondary malignant neoplasm of ovary
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 17 2 0.010 None 1.000 1 2009 2009
Congenital secretory diarrhea, sodium type (disorder)
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Congenital Abnormality 18 17 0.750 None 1.000 6 7 2007 2018
CUI: C0267557
Disease: Secretory diarrhea
Secretory diarrhea
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 19 2 0.100 None 0
CUI: C0233477
Disease: Dysphoric mood
Dysphoric mood
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 22 6 0.010 None 1.000 1 2017 2017
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 1 2014 2014
CUI: C0152234
Disease: Iniencephaly
Iniencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 1 2014 2014
CUI: C0344479
Disease: Spinal Cord Myelodysplasia
Spinal Cord Myelodysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 1 2014 2014
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 29 0.300 None 1.000 1 2014 2014
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 30 14 0.310 limited 1.000 2 1 2014 2018
CUI: C0702169
Disease: Acrania
Acrania
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 31 0.300 None 1.000 1 2014 2014
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 32 11 0.030 None 0.667 3 1 2014 2017
CUI: C0392163
Disease: Corneal erosion
Corneal erosion
disease Infections; Eye Diseases Disease or Syndrome 33 1 0.100 None 0
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 38 0.300 None 1.000 1 2014 2014
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 41 2 0.300 None 1.000 1 2014 2014
CUI: C0266453
Disease: Exencephaly
Exencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 47 0.300 None 1.000 1 2014 2014
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 57 2 0.010 None 1.000 1 1 2018 2018
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 58 3 0.010 None 1.000 1 1 2018 2018
CUI: C4551463
Disease: Colon adenoma
Colon adenoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 63 1 0.010 None 1.000 1 2000 2000
CUI: C0280631
Disease: Leiomyosarcoma of uterus
Leiomyosarcoma of uterus
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 71 0.010 None 1.000 1 2010 2010