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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 4 1.4E-02 1 2.8E-03
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		255 282 7 2.5E-02 1 3.5E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 12 1.6E-02 1 1.1E-02
CUI: C0221358
Disease: Long narrow head
Long narrow head 		154 26 3 1.7E-02 1 3.7E-02
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		46 10 1 1.3E-02 1 9.1E-02
CUI: C0238300
Disease: Stenosis of nasolacrimal duct
Stenosis of nasolacrimal duct 		7 2 1 2.8E-02 1 0.33
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		9 16 2 5.4E-02 1 5.9E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 7 1.5E-02 1 1.6E-03
CUI: C0452136
Disease: Conductive hearing loss, bilateral
Conductive hearing loss, bilateral 		4 3 1 3.0E-02 1 0.25
CUI: C0452147
Disease: Hypospadias, penoscrotal
Hypospadias, penoscrotal 		9 3 7 0.22 1 0.25
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		127 83 15 0.11 1 1.2E-02
CUI: C1836678
Disease: Abnormality of the middle ear ossicles
Abnormality of the middle ear ossicles 		5 1 1 2.9E-02 1 0.50
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		295 70 6 1.9E-02 1 1.4E-02
CUI: C1862066
Disease: Branchial anomaly
Branchial anomaly 		1 3 1 3.3E-02 1 0.25
CUI: C2676973
Disease: Dilatated internal auditory canal
Dilatated internal auditory canal 		7 2 1 2.8E-02 1 0.33
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		58 3 5 6.0E-02 1 0.25
CUI: C4551492
Disease: Micropenis
Micropenis 		32 21 6 0.11 1 4.5E-02
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 7.6E-03 0 0
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 0 17 1.5E-02 0 0
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion 		188 0 2 9.3E-03 0 0
CUI: C0000846
Disease: Agenesis
Agenesis 		161 0 5 2.7E-02 0 0
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		64 0 1 1.1E-02 0 0
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		46 0 1 1.3E-02 0 0
CUI: C0001122
Disease: Acidosis
Acidosis 		28 0 1 1.8E-02 0 0
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		52 0 1 1.2E-02 0 0