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: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		0 10 0 0 7 0.64
CUI: C0038379
Disease: Strabismus
Strabismus 		0 85 0 0 5 5.7E-02
CUI: C0036572
Disease: Seizures
Seizures 		218 417 5 2.3E-02 4 9.5E-03
CUI: C0042798
Disease: Low Vision
Low Vision 		0 41 0 0 4 8.9E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0 164 0 0 4 2.4E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0 246 0 0 4 1.6E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		17 579 2 8.3E-02 3 5.1E-03
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0 39 0 0 3 6.8E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0 118 0 0 3 2.4E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		0 39 0 0 2 4.4E-02
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0 245 0 0 2 8.0E-03
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0 52 0 0 2 3.4E-02
CUI: C0037769
Disease: West Syndrome
West Syndrome 		24 6 1 3.1E-02 2 0.17
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0 18 0 0 2 8.3E-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: C0431447
Disease: Synophrys
Synophrys 		0 23 0 0 2 6.9E-02
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0 46 0 0 2 3.8E-02
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		0 9 0 0 2 0.13
CUI: C1836669
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If 		0 6 0 0 2 0.17
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0 58 0 0 2 3.1E-02
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0 10 0 0 2 0.12
CUI: C0003578
Disease: Apnea
Apnea 		0 7 0 0 1 7.1E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0 58 0 0 1 1.5E-02
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0 19 0 0 1 3.8E-02
CUI: C0008489
Disease: Chorea
Chorea 		0 14 0 0 1 4.8E-02