Source: CURATED ×
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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		17 579 2 8.3E-02 3 5.1E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		133 505 1 7.1E-03 1 2.0E-03
CUI: C0036572
Disease: Seizures
Seizures 		218 417 5 2.3E-02 4 9.5E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0 246 0 0 4 1.6E-02
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0 245 0 0 2 8.0E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		29 240 2 5.6E-02 1 4.0E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0 164 0 0 4 2.4E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0 118 0 0 1 8.0E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0 118 0 0 3 2.4E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		0 85 0 0 5 5.7E-02
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		0 78 0 0 2 2.4E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0 77 0 0 1 1.2E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		0 64 0 0 1 1.4E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0 58 0 0 1 1.5E-02
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0 58 0 0 2 3.1E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0 52 0 0 2 3.4E-02
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0 48 0 0 1 1.8E-02
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0 46 0 0 2 3.8E-02
CUI: C0042798
Disease: Low Vision
Low Vision 		0 41 0 0 4 8.9E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		0 39 0 0 2 4.4E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0 39 0 0 1 2.2E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0 39 0 0 3 6.8E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0 35 0 0 1 2.4E-02
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0 28 0 0 1 2.9E-02
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		0 26 0 0 1 3.0E-02