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: C4015701
Disease: MECKEL SYNDROME 12
MECKEL SYNDROME 12 		1 0 1 1.00 0 0
CUI: C4015704
Disease: Ureteral hypoplasia
Ureteral hypoplasia 		1 0 1 1.00 0 0
CUI: C4230888
Disease: Intrauterine growth restriction (IUGR)
Intrauterine growth restriction (IUGR) 		1 0 1 1.00 0 0
CUI: C1837503
Disease: Small cerebral cortex
Small cerebral cortex 		8 0 1 0.12 0 0
CUI: C1855330
Disease: Cerebral hypoplasia
Cerebral hypoplasia 		9 0 1 0.11 0 0
CUI: C4053775
Disease: Pituitary stalk interruption syndrome
Pituitary stalk interruption syndrome 		16 0 1 6.2E-02 0 0
CUI: C1849172
Disease: Frontal lobe hypoplasia
Frontal lobe hypoplasia 		30 0 1 3.3E-02 0 0
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		33 0 1 3.0E-02 0 0
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		39 0 1 2.6E-02 0 0
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification 		39 0 1 2.6E-02 0 0
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		40 0 1 2.5E-02 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		41 0 1 2.4E-02 0 0
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		53 0 1 1.9E-02 0 0
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		59 0 1 1.7E-02 0 0
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		67 0 1 1.5E-02 0 0
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		69 0 1 1.4E-02 0 0
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		69 0 1 1.4E-02 0 0
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		96 0 1 1.0E-02 0 0
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		110 0 1 9.1E-03 0 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		118 0 1 8.5E-03 0 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		129 0 1 7.8E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 7.8E-03 0 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		149 0 1 6.7E-03 0 0
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		187 0 1 5.3E-03 0 0
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		198 0 1 5.1E-03 0 0