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 37 0.11 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 40 0.11 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 57 0.11 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 36 0.11 0 0
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		141 0 28 0.10 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 0 39 0.10 0 0
CUI: C1835884
Disease: Triangular face
Triangular face 		111 0 24 9.9E-02 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 52 9.8E-02 0 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		300 0 40 9.6E-02 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 38 9.2E-02 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 59 9.0E-02 0 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		172 0 26 8.6E-02 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 41 8.5E-02 0 0
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		16 0 13 8.2E-02 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 28 7.9E-02 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 0 35 7.9E-02 0 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		159 0 23 7.9E-02 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 0 32 7.8E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 53 7.7E-02 0 0
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		69 0 16 7.7E-02 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 53 7.6E-02 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		366 0 37 7.6E-02 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 78 7.2E-02 0 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 0 29 7.0E-02 0 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		129 0 18 6.7E-02 0 0