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: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		21 23 10 5.8E-02 8 3.1E-02
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		23 25 10 5.8E-02 4 1.5E-02
CUI: C1861324
Disease: Short philtrum
Short philtrum 		24 25 10 5.7E-02 12 4.6E-02
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		26 32 10 5.7E-02 10 3.7E-02
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		28 34 10 5.6E-02 11 4.1E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 39 10 5.6E-02 5 1.8E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		30 32 10 5.6E-02 6 2.2E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 257 13 5.5E-02 10 2.0E-02
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 38 10 5.5E-02 8 2.9E-02
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		15 19 9 5.4E-02 5 1.9E-02
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		15 14 9 5.4E-02 6 2.4E-02
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		18 23 9 5.3E-02 10 3.9E-02
CUI: C0009806
Disease: Constipation
Constipation 		40 49 10 5.3E-02 6 2.1E-02
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 0 12 5.2E-02 0 0
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		21 24 9 5.2E-02 8 3.1E-02
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		23 27 9 5.2E-02 3 1.1E-02
CUI: C0575802
Disease: Small hand
Small hand 		24 31 9 5.1E-02 13 4.9E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		26 29 9 5.1E-02 6 2.2E-02
CUI: C1854301
Disease: Motor delay
Motor delay 		27 34 9 5.1E-02 3 1.1E-02
CUI: C1837142
Disease: Poor suck
Poor suck 		28 31 9 5.0E-02 11 4.1E-02
CUI: C0456070
Disease: Growth delay
Growth delay 		31 40 9 4.9E-02 8 2.9E-02
CUI: C0042798
Disease: Low Vision
Low Vision 		32 41 9 4.9E-02 11 4.0E-02
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		13 17 8 4.8E-02 8 3.1E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		35 47 9 4.8E-02 5 1.7E-02
CUI: C0013595
Disease: Eczema
Eczema 		15 18 8 4.8E-02 6 2.3E-02