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: C0334070
Disease: Maturation defect
Maturation defect
phenotype Acquired Abnormality 43 2 0.010 None 1.000 1 2018 2018
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C4021816
Disease: Abnormality of the gingiva
Abnormality of the gingiva
disease Anatomical Abnormality 13 1 0.100 None 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 3 2 2012 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 3 2 2012 2017
CUI: C0265950
Disease: Venous malformation
Venous malformation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 38 3 0.020 None 1.000 2 2013 2019
CUI: C2937220
Disease: Congenital abnormality of vein
Congenital abnormality of vein
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 39 7 0.020 None 1.000 2 2013 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 1996 1996
CUI: C0026499
Disease: Monosomy
Monosomy
group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.010 None < 0.001 1 2000 2000
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 36 11 0.010 None 1.000 1 2008 2008
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.010 None 1.000 1 2019 2019
Congenital bilateral aplasia of vas deferens
disease Male Urogenital Diseases Congenital Abnormality 27 210 0.010 None 1.000 1 2002 2002
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 186 65 0.010 None 1.000 1 2002 2002
CUI: C1961121
Disease: Congenital vascular anomaly
Congenital vascular anomaly
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 42 1 0.010 None 1.000 1 2018 2018
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia
disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 78 2 0.100 None 0
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 32 0.800 None 1.000 58 32 1996 2020
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.080 None 1.000 8 2 1996 2020
CUI: C0024899
Disease: Mastocytosis
Mastocytosis
disease Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 98 8 0.070 None 1.000 7 2001 2019
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
C-cell hyperplasia of thyroid
disease Pathological Conditions, Signs and Symptoms; Endocrine System Diseases Disease or Syndrome 35 16 0.070 None 1.000 7 2000 2016
CUI: C0002768
Disease: Congenital Pain Insensitivity
Congenital Pain Insensitivity
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 0.350 None 1.000 6 2001 2017
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 384 162 0.050 None 1.000 5 1998 2013
Indifference to Pain, Congenital, Autosomal Recessive
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 23 11 0.050 None 1.000 5 2005 2017
CUI: C0003028
Disease: Anhidrosis
Anhidrosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 37 2 0.140 None 1.000 4 1999 2017
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.220 None 1.000 3 2005 2013
CUI: C0031099
Disease: Periodontitis
Periodontitis
disease Stomatognathic Diseases Disease or Syndrome 682 116 0.220 None 1.000 3 2008 2019