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: C2931816
Disease: Chromosome 2, monosomy 2q24
Chromosome 2, monosomy 2q24 		1 0 1 1.00 0 0
CUI: C4024067
Disease: Bullet-shaped distal phalanx of the hallux
Bullet-shaped distal phalanx of the hallux 		1 0 1 1.00 0 0
CUI: C3279875
Disease: CORTICAL MALFORMATIONS, OCCIPITAL
CORTICAL MALFORMATIONS, OCCIPITAL 		2 0 1 0.50 0 0
CUI: C4022524
Disease: Hypoplastic anterior commissure
Hypoplastic anterior commissure 		2 0 1 0.50 0 0
CUI: C1837653
Disease: Inflexible adherence to routines or rituals
Inflexible adherence to routines or rituals 		5 0 1 0.20 0 0
CUI: C4479708
Disease: FCD IIA
FCD IIA 		6 0 1 0.17 0 0
CUI: C4476822
Disease: Hypoplastic hippocampus
Hypoplastic hippocampus 		7 0 1 0.14 0 0
CUI: C1855538
Disease: Small face
Small face 		10 0 1 1.0E-01 0 0
CUI: C4479709
Disease: FCD IIB
FCD IIB 		15 0 1 6.7E-02 0 0
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology 		19 0 1 5.3E-02 0 0
CUI: C0041227
Disease: Trypanosomiasis
Trypanosomiasis 		23 0 1 4.3E-02 0 0
CUI: C0239815
Disease: Hand clenching
Hand clenching 		26 0 1 3.8E-02 0 0
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		27 21 1 3.7E-02 1 3.7E-02
CUI: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology 		27 0 1 3.7E-02 0 0
CUI: C1858091
Disease: Long fingers
Long fingers 		32 0 1 3.1E-02 0 0
CUI: C0150080
Disease: Social Communication Disorder
Social Communication Disorder 		40 0 1 2.5E-02 0 0
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		50 25 1 2.0E-02 1 3.2E-02
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		77 0 1 1.3E-02 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 12 1 1.3E-02 1 5.6E-02
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 1 9.3E-03 0 0
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		118 0 1 8.5E-03 0 0
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		122 0 1 8.2E-03 0 0
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		129 0 1 7.8E-03 0 0
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		129 0 1 7.8E-03 0 0
CUI: C0266483
Disease: Pachygyria
Pachygyria 		129 0 1 7.8E-03 0 0