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: C0020224
Disease: Polyhydramnios
Polyhydramnios 		25 28 7 0.19 4 9.3E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		31 34 7 0.16 2 3.9E-02
CUI: C0521525
Disease: Short neck
Short neck 		26 29 6 0.15 4 9.1E-02
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		19 38 5 0.15 5 9.6E-02
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		4 7 3 0.15 1 4.0E-02
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		5 4 3 0.14 1 4.5E-02
CUI: C1857278
Disease: Partial or complete agenesis of corpus callosum
Partial or complete agenesis of corpus callosum 		5 6 3 0.14 2 8.7E-02
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		14 24 4 0.14 3 7.5E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 9 0.12 6 6.7E-02
CUI: C0027092
Disease: Myopia
Myopia 		45 52 7 0.12 3 4.4E-02
CUI: C0040485
Disease: Torticollis
Torticollis 		9 8 3 0.12 2 8.0E-02
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		10 9 3 0.12 2 7.7E-02
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		10 13 3 0.12 2 6.7E-02
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		10 11 3 0.12 3 0.11
CUI: C1854114
Disease: Short nose
Short nose 		20 23 4 0.11 4 0.11
CUI: C0221217
Disease: Neck webbing
Neck webbing 		11 19 3 0.11 2 5.6E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		31 39 5 0.11 3 5.5E-02
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		11 73 3 0.11 1 1.1E-02
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		12 153 3 0.11 2 1.2E-02
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris 		2 16 2 0.11 1 2.9E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias 		2 1 2 0.11 1 5.3E-02
CUI: C1853965
Disease: Dermatitis, Atopic, 2
Dermatitis, Atopic, 2 		2 5 2 0.11 1 4.3E-02
CUI: C2675432
Disease: DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO
DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO 		2 4 2 0.11 1 4.5E-02
CUI: C3875321
Disease: Inflammatory dermatosis
Inflammatory dermatosis 		2 1 2 0.11 1 5.3E-02
CUI: C4021978
Disease: Abnormality of salivation
Abnormality of salivation 		2 0 2 0.11 0 0