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: C0027708
Disease: Nephroblastoma
Nephroblastoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 586 125 0.620 None 1.000 2 1 2017 2020
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
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3
disease Disease or Syndrome 1 2 0.400 None 1.000 1 2 2017 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.340 None 1.000 5 2017 2020
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: C0751365
Disease: Cancer, Embryonal and Mixed
Cancer, Embryonal and Mixed
disease Neoplasms Neoplastic Process 15 0.300 None 1.000 1 2017 2017
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: C0205851
Disease: Germ cell tumor
Germ cell tumor
disease Neoplasms Neoplastic Process 278 5 0.300 None 1.000 1 2017 2017
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: 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: C0740345
Disease: Germ Cell Cancer
Germ Cell Cancer
disease Neoplasms Neoplastic Process 44 0.300 None 1.000 1 2017 2017
CUI: C0751364
Disease: Cancer, Embryonal
Cancer, Embryonal
phenotype Neoplasms Neoplastic Process 18 0.300 None 1.000 1 2017 2017
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: C0002938
Disease: Aneuploidy
Aneuploidy
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 5 0.300 None 1.000 1 2017 2017
CUI: C0027654
Disease: Embryonal Neoplasm
Embryonal Neoplasm
disease Neoplasms Neoplastic Process 57 2 0.300 None 1.000 1 2017 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.120 None 1.000 2 2010 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 12 2014 2020
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: C0239676
Disease: High forehead
High forehead
phenotype Finding 211 17 0.100 None 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 321 22 0.100 None 0
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 565 20 0.100 None 0
Aplasia/Hypoplasia of the cerebellum
phenotype Finding 116 5 0.100 None 0
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 109 45 0.100 None 0
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 109 14 0.100 None 0