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: C1328931
Disease: Multiple lentigines
Multiple lentigines 		disease Disease or Syndrome 13 12 0.100 None 0 1
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		phenotype Finding 96 19 0.100 None 0 1
CUI: C1835884
Disease: Triangular face
Triangular face 		phenotype Finding 111 16 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0 1
CUI: C1836933
Disease: Low-set nipples
Low-set nipples 		phenotype Finding 9 2 0.100 None 0 1
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		phenotype Finding 58 4 0.100 None 0
CUI: C1837732
Disease: Thickened helices
Thickened helices 		phenotype Finding 37 3 0.100 None 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		phenotype Finding 145 10 0.100 None 0
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		phenotype Finding 42 5 0.100 None 0 1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0 2
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype Finding 71 17 0.100 None 0 1
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		phenotype Finding 59 15 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0 1
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease Congenital Abnormality 284 39 0.100 None 0 1
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype Finding 228 0.100 None 0
CUI: C1853638
Disease: Broad neck
Broad neck 		phenotype Finding 22 10 0.100 None 0 1
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 23 0.100 None 0 1
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		phenotype Finding 86 11 0.100 None 0 1
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype Finding 223 19 0.100 None 0 2
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		phenotype Finding 23 8 0.100 None 0 1
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases 		phenotype Finding 19 6 0.100 None 0 1
CUI: C1860245
Disease: Cranial asymmetry
Cranial asymmetry 		phenotype Finding 10 3 0.100 None 0 1
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		phenotype Anatomical Abnormality 46 11 0.100 None 0 2
CUI: C1864796
Disease: Pectus excavatum of inferior sternum
Pectus excavatum of inferior sternum 		phenotype Finding 5 0.100 None 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		phenotype Finding 211 25 0.100 None 0 1