Source: CLINVAR ×
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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 1 4.2E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 0 1 1.6E-02 0 0
CUI: C0024437
Disease: Macular degeneration
Macular degeneration 		7 0 1 0.14 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		28 0 1 3.6E-02 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		17 0 1 5.9E-02 0 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		20 0 1 5.0E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 0 1 3.0E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 0 1 4.2E-03 0 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		8 0 1 0.12 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 0 1 2.2E-02 0 0
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		5 0 1 0.20 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 0 1 2.3E-02 0 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		28 0 1 3.6E-02 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 0 1 3.0E-03 0 0
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		19 0 1 5.3E-02 0 0
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		14 0 1 7.1E-02 0 0
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		6 0 1 0.17 0 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		19 0 1 5.3E-02 0 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		13 0 1 7.7E-02 0 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 0 1 4.7E-03 0 0
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		9 0 1 0.11 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 0 1 2.7E-02 0 0
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		4 0 1 0.25 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		8 0 1 0.12 0 0
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		2 0 1 0.50 0 0