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: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		2803 824 21 7.3E-03 1 1.2E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 32 3.1E-02 2 3.4E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 44 2.0E-02 3 5.4E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 55 3.0E-02 2 3.6E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 28 3.5E-02 1 2.9E-03
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		613 283 8 1.2E-02 1 3.4E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 10 2.3E-02 1 3.9E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 11 4.7E-02 3 1.2E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 23 3.7E-02 1 5.0E-03
CUI: C0027092
Disease: Myopia
Myopia 		490 167 16 2.9E-02 1 5.7E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 164 45 4.5E-02 2 1.2E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 36 4.0E-02 1 7.0E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 11 4.6E-02 2 1.6E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 120 8 1.5E-02 1 7.8E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 24 7.2E-02 1 8.8E-03
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 24 5.4E-02 1 9.6E-03
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		488 90 14 2.5E-02 1 1.0E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 35 4.6E-02 3 3.2E-02
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		10 80 1 1.1E-02 2 2.3E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 44 7.0E-02 2 2.4E-02
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		190 75 7 2.6E-02 1 1.2E-02
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 30 5.4E-02 2 2.6E-02
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		295 70 8 2.2E-02 1 1.3E-02
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		413 70 7 1.4E-02 1 1.3E-02
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		241 69 2 6.2E-03 1 1.3E-02