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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350 0.100 None 1.000 21 3 2002 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 335 611 0.100 None 1.000 21 5 2002 2016
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 6 32 0.100 None 1.000 6 2 2007 2013
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 37 49 0.100 None 1.000 5 4 2007 2011
CUI: C0424492
Disease: Coarse features
Coarse features 		phenotype Finding 2 2 0.100 None 1.000 5 1 2007 2011
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 31 34 0.100 None 1.000 5 1 2007 2011
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		phenotype Finding 19 20 0.100 None 1.000 5 1 2007 2011
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 11 11 0.100 None 1.000 5 1 2007 2011
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 45 62 0.100 None 1.000 3 1 2007 2007
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 26 152 0.100 None 1.000 1 1 2016 2016
CUI: C1853638
Disease: Broad neck
Broad neck 		phenotype Finding 4 10 0.100 None 0 1
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease Congenital Abnormality 37 39 0.100 None 0 1
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 26 29 0.100 None 0 1
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype Finding 13 17 0.100 None 0 1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 30 35 0.100 None 0 2
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 31 39 0.100 None 0 1
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		phenotype Finding 5 5 0.100 None 0 1
CUI: C1836933
Disease: Low-set nipples
Low-set nipples 		phenotype Finding 2 2 0.100 None 0 1
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 20 23 0.100 None 0 1
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		phenotype Finding 10 11 0.100 None 0 1
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		phenotype Finding 8 8 0.100 None 0 1
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype Anatomical Abnormality 9 24 0.100 None 0 4
CUI: C4024165
Disease: Prominent ear helix
Prominent ear helix 		phenotype Finding 3 3 0.100 None 0 1
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		phenotype Pathological Conditions, Signs and Symptoms Finding 2 2 0.100 None 0 1
CUI: C4022662
Disease: Abnormality of lateral ventricle
Abnormality of lateral ventricle 		disease Anatomical Abnormality 2 2 0.100 None 0 1