Source: CLINVAR ×
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: C0009806
Disease: Constipation
Constipation 		40 49 11 0.17 9 0.11
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		12 14 7 0.17 8 0.17
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		12 14 7 0.17 6 0.12
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		10 12 6 0.15 7 0.15
CUI: C1836830
Disease: Developmental regression
Developmental regression 		39 78 9 0.13 10 9.2E-02
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 37 8 0.13 5 6.8E-02
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		15 19 6 0.13 5 9.1E-02
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 14 0.12 9 6.0E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 9 0.12 6 5.6E-02
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		20 33 6 0.12 4 5.7E-02
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		11 12 5 0.12 3 6.0E-02
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		11 13 5 0.12 3 5.9E-02
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		21 25 6 0.12 5 8.2E-02
CUI: C0003467
Disease: Anxiety
Anxiety 		13 20 5 0.11 5 8.9E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 76 8 0.11 4 3.5E-02
CUI: C0086437
Disease: Joint laxity
Joint laxity 		14 15 5 0.11 4 7.7E-02
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		14 14 5 0.11 4 7.8E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 62 8 0.11 8 8.4E-02
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		25 25 6 0.11 5 8.2E-02
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		15 14 5 0.11 3 5.8E-02
CUI: C0015310
Disease: Exotropia
Exotropia 		17 21 5 0.10 4 6.9E-02
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		18 32 5 1.0E-01 3 4.3E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		18 22 5 1.0E-01 5 8.6E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 10 9.9E-02 3 2.3E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		30 38 6 9.8E-02 4 5.3E-02