Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 60 9.2E-02 3 3.9E-02
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		291 0 35 9.1E-02 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 27 9.1E-02 0 0
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		78 0 17 9.0E-02 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 0 26 8.9E-02 0 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 24 8.9E-02 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 58 8.8E-02 1 9.8E-03
CUI: C0265654
Disease: Tarsal Coalition
Tarsal Coalition 		22 0 12 8.8E-02 0 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		109 13 19 8.8E-02 1 2.6E-02
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		234 0 29 8.7E-02 0 0
CUI: C1843108
Disease: Short palm
Short palm 		110 0 19 8.7E-02 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 28 8.7E-02 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 15 8.7E-02 0 0
CUI: C0431890
Disease: Hypoplasia of thumb
Hypoplasia of thumb 		49 0 14 8.6E-02 0 0
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 0 27 8.5E-02 0 0
CUI: C0576226
Disease: Short foot
Short foot 		116 0 19 8.5E-02 0 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 0 20 8.5E-02 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 48 8.5E-02 1 1.1E-02
CUI: C1853737
Disease: Prominent occiput
Prominent occiput 		53 0 14 8.4E-02 0 0
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		120 0 19 8.3E-02 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 27 8.3E-02 0 0
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		121 0 19 8.3E-02 0 0
CUI: C1836195
Disease: Short toe
Short toe 		56 0 14 8.3E-02 0 0
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		123 0 19 8.2E-02 0 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 0 15 8.2E-02 0 0