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 Disease or Syndrome 31 142 1.000 definitive 0.990 122 141 2004 2018
CUI: C2936502
Disease: Familial CHARGE Syndrome
Familial CHARGE Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 4 0.700 definitive 13 2004 2016
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 68 22 0.600 1.000 15 2007 2018
Congenital ocular coloboma (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 107 11 0.500 strong 1.000 19 1991 2016
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Respiratory Tract Diseases Congenital Abnormality 41 3 0.420 strong 1.000 3 1 1995 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.420 strong 1.000 2 1991 2011
Idiopathic hypogonadotropic hypogonadism
disease Endocrine System Diseases Disease or Syndrome 62 42 0.320 strong 1.000 2 2008 2012
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 31 31 0.310 1.000 1 2008 2008
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
disease Disease or Syndrome 1 9 0.300 3 9 2008 2015
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Male Urogenital Diseases; Neoplasms Neoplastic Process 3238 563 0.300 1 2018 2018
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Male Urogenital Diseases; Neoplasms Neoplastic Process 1553 25 0.300 1 2018 2018
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 10 23 0.300 0
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 70 3 0.300 strong 0
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 6 38 0.300 0
Esophageal atresia with or without tracheoesophageal fistula
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 27 8 0.300 0
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 60 0.300 strong 0
Kallmann syndrome, type 3, recessive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 6 6 0.300 0
Congenital ear anomaly NOS (disorder)
group Congenital Abnormality 80 0.190 1.000 9 2006 2012
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism
disease Endocrine System Diseases Disease or Syndrome 125 11 0.150 1.000 5 2000 2016
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris
phenotype Anatomical Abnormality 61 2 0.130 1.000 3 1997 2006
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.120 1.000 2 1991 2011
CUI: C0376175
Disease: Bell Palsy
Bell Palsy
disease Nervous System Diseases; Stomatognathic Diseases; Virus Diseases Disease or Syndrome 91 0.120 1.000 2 2010 2011
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 56 5 0.120 0.500 2 2013 2015
CUI: C0003126
Disease: Anosmia
Anosmia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 38 4 0.120 1.000 2 2010 2010
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 267 83 0.110 1.000 2 1 2008 2015