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: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 52 2.8E-02 5 9.0E-03
CUI: C1867131
Disease: Broad hallux
Broad hallux 		48 14 9 7.6E-02 4 0.22
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 38 16 4.6E-02 2 4.5E-02
CUI: C0024636
Disease: Malocclusion
Malocclusion 		128 10 9 4.5E-02 2 0.12
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 39 6.2E-02 2 3.4E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 35 3.5E-02 2 3.4E-03
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		320 25 8 2.0E-02 2 6.5E-02
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 12 17 7.3E-02 2 0.11
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 21 5.5E-02 2 4.1E-02
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		210 32 6 2.1E-02 2 5.3E-02
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 16 9 5.6E-02 2 9.1E-02
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		67 11 8 5.8E-02 2 0.12
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		13 20 4 4.5E-02 2 7.7E-02
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		30 25 4 3.8E-02 2 6.5E-02
CUI: C0456070
Disease: Growth delay
Growth delay 		244 40 14 4.5E-02 2 4.3E-02
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 10 18 0.11 2 0.12
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 50 7 3.5E-02 2 3.6E-02
CUI: C1849089
Disease: Broad forehead
Broad forehead 		133 13 8 3.9E-02 2 0.11
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		429 29 36 7.6E-02 2 5.7E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 35 0.11 2 4.4E-02
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		180 8 25 0.11 2 0.14
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 13 4.4E-02 2 2.6E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 7 2.9E-02 2 1.6E-02
CUI: C4540327
Disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES 		1 5 1 1.3E-02 2 0.18
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 13 5.8E-02 2 7.9E-03