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: C1855425
Disease: Marles Greenberg Persaud syndrome
Marles Greenberg Persaud syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 3 3 0.750 None 0.875 8 3 2001 2017
Bifid Nose With Or Without Anorectal And Renal Anomalies
disease Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 2 0.720 None 0.800 5 2 2001 2014
CUI: C0265233
Disease: Cryptophthalmos syndrome
Cryptophthalmos syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 8 5 0.240 None 1.000 4 2011 2018
CUI: C0221363
Disease: Bifid nose
Bifid nose
disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 9 0.620 limited 1.000 3 2011 2013
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 239 31 0.320 None 1.000 3 2013 2018
CUI: C0265425
Disease: 9p partial monosomy syndrome
9p partial monosomy syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.200 None 1.000 3 2004 2011
Other deletions of part of a chromosome
disease Congenital Abnormality 2 0.200 None 1.000 3 2004 2011
CUI: C0795830
Disease: CHROMOSOME 9p DELETION SYNDROME
CHROMOSOME 9p DELETION SYNDROME
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 0.200 None 1.000 3 2004 2011
CUI: C4303547
Disease: BNAR syndrome
BNAR syndrome
disease Disease or Syndrome 3 0.030 None 0.667 3 2011 2013
Congenital hernia of foramen of Morgagni
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 19 0.300 None 1.000 2 2013 2016
Congenital hernia of foramen of Bochdalek
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 21 0.300 None 1.000 2 2013 2016
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 69 7 0.300 None 1.000 2 2010 2014
Congenital absence of kidneys syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 110 0.410 None 1.000 2 2011 2013
CUI: C3280974
Disease: TRIGONOCEPHALY 2
TRIGONOCEPHALY 2
disease Congenital Abnormality 1 2 0.600 limited 1.000 2 2 2001 2011
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
disease Hemic and Lymphatic Diseases Neoplastic Process 282 29 0.010 None 1.000 1 2019 2019
CUI: C0242473
Disease: Anus Prolapse
Anus Prolapse
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Acquired Abnormality 3 0.010 None 1.000 1 2011 2011
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 52 7 0.700 limited 1.000 1 2011 2011
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 7 2 0.010 None 1.000 1 2011 2011
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 33 3 0.010 None 1.000 1 2011 2011
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 29 6 0.010 None 1.000 1 2011 2011
CUI: C1968949
Disease: Cakut
Cakut
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 72 8 0.010 None 1.000 1 2014 2014
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection
disease Disease or Syndrome 695 94 0.010 None 1.000 1 2012 2012
CUI: C2751431
Disease: Bifid Nose, Autosomal Dominant
Bifid Nose, Autosomal Dominant
disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 0.300 None 1.000 1 2013 2013
CUI: C3887497
Disease: Bifid Nose, Autosomal Recessive
Bifid Nose, Autosomal Recessive
disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 1 0.300 None 1.000 1 2013 2013
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 89 6 0.100 None 0