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: C0008487
Disease: Chordoma
Chordoma
disease Neoplasms Neoplastic Process 87 1 0.510 3 1 2008 2013
SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
disease Disease or Syndrome 1 1 0.400 1 1 2014 2014
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 162 49 0.310 1 2002 2002
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 35 0.300 0
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 0
CUI: C0266453
Disease: Exencephaly
Exencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 35 0.300 0
Spina bifida aperta of cervical spine
disease Congenital Abnormality 6 0.300 0
CUI: C0152234
Disease: Iniencephaly
Iniencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 0
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 35 0.300 0
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 0
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 0
CUI: C0702169
Disease: Acrania
Acrania
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 31 0.300 0
CUI: C4020839
Disease: Multiple vertebral anomalies
Multiple vertebral anomalies
phenotype Anatomical Abnormality 19 0.100 0
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology
phenotype Finding 19 0.100 0
CUI: C4020840
Disease: Abnormal vertebral bodies
Abnormal vertebral bodies
phenotype Anatomical Abnormality 19 0.100 0
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 4064 159 0.010 1.000 1 2013 2013
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 1702 215 0.010 1.000 1 2004 2004
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 1875 224 0.010 1.000 1 2013 2013
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 1711 67 0.010 1.000 1 2013 2013