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: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 49 205 1.000 definitive 0.981 157 204 2004 2020
Congenital ocular coloboma (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 21 0.200 None 1.000 21 1 1991 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.110 None 1.000 21 7 1999 2016
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 86 30 0.600 None 1.000 16 2006 2018
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
disease Disease or Syndrome 1 25 0.600 strong 1.000 10 25 2004 2016
CUI: C2936502
Disease: Familial CHARGE Syndrome
Familial CHARGE Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 4 0.510 None 1.000 9 2005 2015
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 111 7 0.080 None 1.000 8 1988 2019
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism
disease Endocrine System Diseases Disease or Syndrome 178 18 0.160 None 1.000 6 2000 2018
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 61 21 0.060 None 1.000 6 1988 2019
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 150 18 0.050 None 1.000 5 2000 2018
Idiopathic hypogonadotropic hypogonadism
disease Endocrine System Diseases Disease or Syndrome 82 66 0.340 strong 1.000 5 2008 2020
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 119 43 0.040 None 1.000 4 1991 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.040 None 1.000 4 2012 2019
CUI: C0000846
Disease: Agenesis
Agenesis
disease Congenital Abnormality 161 44 0.030 None 1.000 3 2008 2011
CUI: C0020619
Disease: Hypogonadism
Hypogonadism
disease Endocrine System Diseases Disease or Syndrome 305 24 0.130 None 1.000 3 2000 2016
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome; Congenital Abnormality 49 77 0.030 None 1.000 3 2014 2019
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality 153 12 0.130 None 1.000 3 1 1996 2006
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.030 None 1.000 3 1991 2017
CUI: C0595995
Disease: Idiopathic scoliosis
Idiopathic scoliosis
disease Musculoskeletal Diseases Acquired Abnormality 46 17 0.030 None 1.000 3 1 2007 2013
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 57 2 0.030 None 1.000 3 2011 2016
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 55 14 0.030 None 1.000 3 2013 2017
Congenital hypogonadotropic hypogonadism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 23 10 0.030 None 1.000 3 2012 2019
CUI: C0002893
Disease: Refractory anemias
Refractory anemias
disease Hemic and Lymphatic Diseases Disease or Syndrome 340 11 0.020 None 1.000 2 2014 2018
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.020 None 1.000 2 2014 2018
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 182 3 0.120 None 1.000 2 2010 2011