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: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		9 9 7 0.17 6 0.11
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 69 12 0.15 9 8.1E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 18 0.12 8 3.4E-02
CUI: C0002418
Disease: Amblyopia
Amblyopia 		17 22 6 0.12 5 7.4E-02
CUI: C0264611
Disease: Apraxia of Phonation
Apraxia of Phonation 		10 9 5 0.11 1 1.7E-02
CUI: C0009806
Disease: Constipation
Constipation 		40 49 8 0.11 9 9.9E-02
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 48 7 9.9E-02 7 7.6E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 10 9.7E-02 7 5.1E-02
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 93 10 9.1E-02 2 1.4E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 8 8.7E-02 2 1.5E-02
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		13 18 4 8.3E-02 5 7.8E-02
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 19 4 7.8E-02 2 2.9E-02
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		17 24 4 7.7E-02 8 0.12
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		18 0 4 7.5E-02 0 0
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		6 9 3 7.1E-02 1 1.7E-02
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		6 6 3 7.1E-02 2 3.6E-02
CUI: C1837463
Disease: Narrow face
Narrow face 		6 6 3 7.1E-02 2 3.6E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		39 59 5 6.8E-02 1 9.2E-03
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 16 6.8E-02 9 2.0E-02
CUI: C0563243
Disease: Poor coordination
Poor coordination 		8 0 3 6.8E-02 0 0
CUI: C1848395
Disease: Large for gestational age
Large for gestational age 		8 10 3 6.8E-02 2 3.4E-02
CUI: C0028754
Disease: Obesity
Obesity 		24 0 4 6.8E-02 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		24 25 4 6.8E-02 1 1.3E-02
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		25 28 4 6.7E-02 2 2.6E-02
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		26 31 4 6.6E-02 3 3.8E-02