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: C0011581
Disease: Depressive disorder
Depressive disorder 		7 7 3 0.18 3 0.12
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		9 9 3 0.16 4 0.16
CUI: C0027497
Disease: Nausea
Nausea 		3 4 2 0.14 2 9.1E-02
CUI: C0006325
Disease: Bruxism
Bruxism 		4 6 2 0.13 2 8.3E-02
CUI: C0020580
Disease: Hypesthesia
Hypesthesia 		4 5 2 0.13 2 8.7E-02
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		37 41 5 0.11 5 8.9E-02
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads 		7 8 2 0.11 1 3.7E-02
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes 		7 7 2 0.11 2 8.0E-02
CUI: C0030554
Disease: Paresthesia
Paresthesia 		8 8 2 0.11 1 3.7E-02
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		8 8 2 0.11 2 7.7E-02
CUI: C0563243
Disease: Poor coordination
Poor coordination 		8 8 2 0.11 1 3.7E-02
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		8 8 2 0.11 1 3.7E-02
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		20 21 3 1.0E-01 2 5.1E-02
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		9 11 2 1.0E-01 2 6.9E-02
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		10 15 2 9.5E-02 2 6.1E-02
CUI: C0683322
Disease: Mental impairment
Mental impairment 		10 13 2 9.5E-02 1 3.1E-02
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		10 10 2 9.5E-02 2 7.1E-02
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		11 11 2 9.1E-02 2 6.9E-02
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		12 14 2 8.7E-02 2 6.2E-02
CUI: C0009806
Disease: Constipation
Constipation 		40 49 4 8.2E-02 4 6.2E-02
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		1 1 1 7.7E-02 1 5.0E-02
CUI: C0008373
Disease: Cholesteatoma
Cholesteatoma 		1 1 1 7.7E-02 1 5.0E-02
CUI: C0015190
Disease: Euthyroid Sick Syndromes
Euthyroid Sick Syndromes 		1 1 1 7.7E-02 1 5.0E-02
CUI: C0021141
Disease: Inappropriate ADH Syndrome
Inappropriate ADH Syndrome 		1 1 1 7.7E-02 1 5.0E-02
CUI: C0024221
Disease: Lymphangioma
Lymphangioma 		1 0 1 7.7E-02 0 0