Source: CLINVAR ×
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: C0406810
Disease: Carney Complex
Carney Complex 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Disease or Syndrome 1 25 1.000 definitive 0.961 1 25 2000 2020
CUI: C2607929
Disease: Carney Complex, Type 1
Carney Complex, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Disease or Syndrome 1 17 0.900 definitive 1.000 8 17 2000 2016
CUI: C1864846
Disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (disorder)
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (disorder) 		disease Endocrine System Diseases Disease or Syndrome 1 3 0.800 strong 1.000 0 3 2000 2002
CUI: C3276228
Disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE 		disease 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 1 5 0.700 strong 1.000 3 5 2011 2016
CUI: C2931787
Disease: Intracardiac myxoma
Intracardiac myxoma 		disease Neoplasms; Cardiovascular Diseases Neoplastic Process 1 2 0.600 strong 0 2
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger 		phenotype Finding 1 1 0.100 None 1.000 3 1 2012 2013
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		phenotype Finding 2 2 0.100 None 1.000 3 1 2012 2013
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Stomatognathic Diseases Disease or Syndrome 3 10 0.100 None 0 6
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 27 45 0.100 None 0 1
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 35 47 0.100 None 0 1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 303 505 0.100 None 0 1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 88 106 0.100 None 0 1
CUI: C0266544
Disease: Microcornea
Microcornea 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 4 3 0.100 None 0 1
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 19 18 0.100 None 0 1
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 5 8 0.100 None 0 1
CUI: C4016392
Disease: ADRENOCORTICAL TUMOR, SOMATIC
ADRENOCORTICAL TUMOR, SOMATIC 		disease Neoplastic Process 2 3 0.100 None 0 1