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: C1848207
Disease: Poor speech
Poor speech 		208 0 40 0.11 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 44 0.11 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 44 0.11 1 9.0E-03
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 38 46 0.11 1 1.4E-02
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 11 39 0.11 2 4.7E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 39 57 0.10 1 1.4E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 69 0.10 5 2.3E-02
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 32 44 0.10 5 8.2E-02
CUI: C1835884
Disease: Triangular face
Triangular face 		111 16 26 9.8E-02 1 2.0E-02
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 14 42 9.7E-02 2 4.3E-02
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		141 0 28 9.5E-02 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 12 35 9.4E-02 3 7.0E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 65 9.3E-02 4 4.8E-02
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		69 0 21 9.2E-02 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 64 9.1E-02 2 1.8E-02
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 45 8.9E-02 0 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 25 27 8.6E-02 2 3.5E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 36 8.4E-02 2 2.8E-02
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 17 8.3E-02 17 0.23
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		172 0 27 8.3E-02 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 38 8.2E-02 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 50 8.1E-02 8 8.9E-02
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 88 8.0E-02 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 40 7.9E-02 0 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 44 34 7.9E-02 3 4.0E-02