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: C1857534
Disease: Postnatal onset growth deficiency
Postnatal onset growth deficiency 		phenotype Finding 1 1 0.100 None 1.000 2 1 2006 2006
CUI: C0578682
Disease: Madarosis of eyebrow
Madarosis of eyebrow 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 1 0.100 None 1.000 1 1 2008 2008
CUI: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7 		disease Disease or Syndrome 1 8 0.700 None 1.000 1 8 2006 2017
CUI: C0431448
Disease: Absent eyebrow
Absent eyebrow 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 1 1 0.100 None 0 1
CUI: C0521579
Disease: Congenital strabismus
Congenital strabismus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 1 1 0.100 None 0 1
CUI: C1266158
Disease: Nongerminomatous Germ Cell Tumor
Nongerminomatous Germ Cell Tumor 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 1 1 0.400 None 0 1
CUI: C1332969
Disease: Childhood Ganglioglioma
Childhood Ganglioglioma 		disease Neoplasms Neoplastic Process 1 1 0.200 None 1.000 0 1 2011 2020
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes 		phenotype Congenital Abnormality 1 1 0.100 None 0 1
CUI: C1847874
Disease: PHACE association
PHACE association 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C1848760
Disease: Increased anterioposterior diameter of thorax
Increased anterioposterior diameter of thorax 		phenotype Finding 1 1 0.100 None 0 1
CUI: C2674727
Disease: ASTROCYTOMA, LOW-GRADE, SOMATIC
ASTROCYTOMA, LOW-GRADE, SOMATIC 		disease Finding 1 1 0.100 None 0 1
CUI: C3150971
Disease: LEOPARD SYNDROME 3
LEOPARD SYNDROME 3 		disease Disease or Syndrome 1 5 0.700 None 1.000 0 5 2006 2013
CUI: C4551517
Disease: Flared nostrils abnormality
Flared nostrils abnormality 		phenotype Finding 1 1 0.100 None 0 1
CUI: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 2 2 0.490 limited 1.000 3 1 1995 2018
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 2 3 0.200 None 0.952 2 2 2003 2019
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 2 0.100 None 0 1
CUI: C0206716
Disease: Ganglioglioma
Ganglioglioma 		disease Neoplasms Neoplastic Process 2 2 0.200 None 0.974 0 1 2011 2020
CUI: C0574974
Disease: Finger joint hypermobility
Finger joint hypermobility 		phenotype Finding 2 2 0.100 None 0 1
CUI: C1837732
Disease: Thickened helices
Thickened helices 		phenotype Finding 2 3 0.100 None 0 1
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		disease Anatomical Abnormality 2 2 0.100 None 0 1
CUI: C0917804
Disease: Arteriovenous Malformations, Cerebral
Arteriovenous Malformations, Cerebral 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality 3 4 0.100 None 1.000 1 1 2019 2019
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 3 17 0.650 limited 1.000 0 2 2009 2017
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 3 5 0.100 None 0 1
CUI: C1832160
Disease: Abnormality of temperature regulation
Abnormality of temperature regulation 		phenotype Finding 3 3 0.100 None 0 1
CUI: C1849667
Disease: Wide nasal base
Wide nasal base 		phenotype Finding 3 3 0.100 None 0 1