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: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		70 0 52 0.11 0 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		93 0 54 0.11 0 0
CUI: C1836047
Disease: Long face
Long face 		182 0 62 0.10 0 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		259 16 69 0.10 1 1.9E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 248 0.10 1 5.1E-03
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 81 0.10 2 2.4E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 65 0.10 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 245 0.10 4 6.8E-03
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		497 70 90 0.10 2 1.9E-02
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 0 140 0.10 0 0
CUI: C0231835
Disease: Tachypnea
Tachypnea 		82 0 51 0.10 0 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 64 0.10 0 0
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		226 0 64 0.10 0 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		129 0 54 9.9E-02 0 0
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media 		163 0 57 9.8E-02 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 49 9.8E-02 0 0
CUI: C0029883
Disease: Otitis Media with Effusion
Otitis Media with Effusion 		110 0 52 9.8E-02 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		426 87 80 9.8E-02 1 8.1E-03
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		67 0 48 9.8E-02 0 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 0 58 9.7E-02 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 22 69 9.7E-02 1 1.7E-02
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		163 0 56 9.7E-02 0 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 70 9.6E-02 2 2.6E-02
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		190 0 58 9.6E-02 0 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		592 0 93 9.6E-02 0 0