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: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 13 2 0.600 1.000 11 2000 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.450 0.500 6 2 2008 2017
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
disease Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 44 0.400 1.000 13 2012 2017
CUI: C0334488
Disease: Clear cell sarcoma of kidney
Clear cell sarcoma of kidney
disease Neoplastic Process 19 0.360 0.833 6 2012 2017
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 836 665 0.320 0.500 2 3 2011 2013
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 3919 129 0.310 1.000 2 2007 2015
Chromosome 17p13.3 Duplication Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 2 0.300 0
NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 2 1 0.200 1 2013 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.150 1.000 5 2009 2016
CUI: C0266463
Disease: Lissencephaly
Lissencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 63 2 0.140 1.000 4 2009 2012
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 1702 215 0.100 0.957 47 1990 2016
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 682 53 0.100 0.974 38 1993 2017
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 496 16 0.100 0.952 21 1985 2015
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic
disease Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 107 36 0.100 1.000 11 1992 2014
CUI: C1837385
Disease: Poor growth
Poor growth
phenotype Finding 167 0.100 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.100 0
CUI: C1854114
Disease: Short nose
Short nose
phenotype Finding 178 4 0.100 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 282 4 0.100 0
CUI: C0026034
Disease: Microstomia
Microstomia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 106 0.100 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 459 34 0.100 0
CUI: C0426421
Disease: Wide nose
Wide nose
phenotype Finding 66 0.100 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype Finding 140 5 0.100 0
CUI: C0426414
Disease: Small nose
Small nose
phenotype Finding 175 0.100 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 168 1 0.100 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 221 5 0.100 0