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: C3641106
Disease: Congenital Bleeding Disorder
Congenital Bleeding Disorder 		0 2 0 0 1 8.3E-02
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 0 1 1.4E-03 0 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		169 0 1 1.4E-03 0 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		168 0 1 1.4E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 1.5E-03 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 1 1.5E-03 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 1.6E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 1.6E-03 0 0
CUI: C0424230
Disease: Motor retardation
Motor retardation 		98 0 1 1.6E-03 0 0
CUI: C1837463
Disease: Narrow face
Narrow face 		87 0 1 1.6E-03 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 1 1.6E-03 0 0
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen 		80 0 1 1.6E-03 0 0
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		80 0 1 1.6E-03 0 0
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		77 0 1 1.6E-03 0 0
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		75 0 1 1.6E-03 0 0
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		75 0 1 1.6E-03 0 0
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		75 0 1 1.6E-03 0 0
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		74 0 1 1.6E-03 0 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		74 0 1 1.6E-03 0 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		73 0 1 1.6E-03 0 0
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		68 0 1 1.6E-03 0 0
CUI: C0562350
Disease: Hip circumference
Hip circumference 		68 0 1 1.6E-03 0 0
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		67 0 1 1.7E-03 0 0
CUI: C0016506
Disease: Foot Deformities
Foot Deformities 		66 0 1 1.7E-03 0 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		66 0 1 1.7E-03 0 0