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: C4551558
Disease: Fibromatosis, Gingival, Type 1
Fibromatosis, Gingival, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 2 9 0.400 None 0 6
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: 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: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 31 39 0.100 None 0 1
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		phenotype Finding 19 19 0.100 None 0 1
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		disease Disease or Syndrome 2 9 0.100 None 0 1
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 29 30 0.100 None 0 1
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		phenotype Finding 4 7 0.100 None 0 1
CUI: C1853638
Disease: Broad neck
Broad neck 		phenotype Finding 4 10 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
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		phenotype Finding 18 25 0.100 None 0 1
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		phenotype Anatomical Abnormality 6 11 0.100 None 0 2
CUI: C1860245
Disease: Cranial asymmetry
Cranial asymmetry 		phenotype Finding 3 3 0.100 None 0 1
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		phenotype Finding 5 6 0.100 None 0 1
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		phenotype Finding 7 8 0.100 None 0 1