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: C4539839
Disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 		disease Disease or Syndrome 1 2 0.400 None 1.000 1 2 2017 2017
CUI: C2931383
Disease: Chromosomal mosaicism due to mitotic instability
Chromosomal mosaicism due to mitotic instability 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cell or Molecular Dysfunction 3 0.300 None 1.000 1 2017 2017
CUI: C4021899
Disease: Premature chromatid separation
Premature chromatid separation 		phenotype Cell or Molecular Dysfunction 3 0.100 None 0
CUI: C0002938
Disease: Aneuploidy
Aneuploidy 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 5 0.300 None 1.000 1 2017 2017
CUI: C2931286
Disease: Warburton Anyane Yeboa syndrome
Warburton Anyane Yeboa syndrome 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 5 0.300 None 1.000 1 2017 2017
CUI: C2932714
Disease: Pontocerebellar Hypoplasia Type 2
Pontocerebellar Hypoplasia Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 6 1 0.010 None 1.000 1 2010 2010
CUI: C1848528
Disease: Extrapyramidal dyskinesia
Extrapyramidal dyskinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2010 2010
CUI: C0270742
Disease: Athetoid cerebral palsy
Athetoid cerebral palsy 		disease Nervous System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2018 2018
CUI: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 10 20 0.500 None 1.000 1 2017 2017
CUI: C0042258
Disease: Vaginal Neoplasms
Vaginal Neoplasms 		group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 13 0.100 None 0
CUI: C0205852
Disease: Neoplasms, Embryonal and Mixed
Neoplasms, Embryonal and Mixed 		disease Neoplasms Neoplastic Process 15 0.300 None 1.000 1 2017 2017
CUI: C0751365
Disease: Cancer, Embryonal and Mixed
Cancer, Embryonal and Mixed 		disease Neoplasms Neoplastic Process 15 0.300 None 1.000 1 2017 2017
CUI: C1868950
Disease: Multiple myeloma progression
Multiple myeloma progression 		disease Neoplastic Process 17 0.010 None 1.000 1 2020 2020
CUI: C0751364
Disease: Cancer, Embryonal
Cancer, Embryonal 		phenotype Neoplasms Neoplastic Process 18 0.300 None 1.000 1 2017 2017
CUI: C0340375
Disease: Subaortic stenosis
Subaortic stenosis 		disease Cardiovascular Diseases Disease or Syndrome 19 2 0.100 None 0
CUI: C1261175
Disease: Pontoneocerebellar hypoplasia
Pontoneocerebellar hypoplasia 		disease Disease or Syndrome 27 10 0.040 None 1.000 4 2010 2016
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		phenotype Pathological Conditions, Signs and Symptoms Finding 30 2 0.100 None 0
CUI: C2930471
Disease: Bilateral Wilms Tumor
Bilateral Wilms Tumor 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 0.300 None 1.000 1 2017 2017
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		disease Nervous System Diseases Congenital Abnormality 32 7 0.040 None 1.000 4 2010 2016
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		disease Respiratory Tract Diseases Congenital Abnormality 32 0.100 None 0
CUI: C0027658
Disease: Neoplasms, Germ Cell and Embryonal
Neoplasms, Germ Cell and Embryonal 		group Neoplasms Neoplastic Process 34 0.300 None 1.000 1 2017 2017
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 39 2 0.100 None 0
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype Pathologic Function 42 1 0.100 None 0
CUI: C0740345
Disease: Germ Cell Cancer
Germ Cell Cancer 		disease Neoplasms Neoplastic Process 44 0.300 None 1.000 1 2017 2017
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 47 8 0.010 None 1.000 1 2010 2010