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: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 6 0.17 4 9.3E-02
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		10 11 4 0.16 4 0.15
CUI: C0231835
Disease: Tachypnea
Tachypnea 		4 5 3 0.15 4 0.19
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		5 5 3 0.14 3 0.14
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		6 11 3 0.14 4 0.15
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 40 6 0.12 5 9.1E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		17 19 4 0.12 2 5.4E-02
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		8 8 3 0.12 1 3.7E-02
CUI: C0013404
Disease: Dyspnea
Dyspnea 		18 21 4 0.12 5 0.14
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 7 0.12 4 5.9E-02
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		28 54 5 0.12 5 7.2E-02
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		19 21 4 0.12 4 0.11
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		10 13 3 0.12 2 6.5E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		31 39 5 0.11 2 3.5E-02
CUI: C0018916
Disease: Hemangioma
Hemangioma 		12 15 3 0.11 4 0.13
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		2 0 2 0.11 0 0
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		2 0 2 0.11 0 0
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		2 0 2 0.11 0 0
CUI: C1836933
Disease: Low-set nipples
Low-set nipples 		2 0 2 0.11 0 0
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		23 25 4 0.11 1 2.3E-02
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		2 2 2 0.11 2 1.0E-01
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		2 2 2 0.11 1 4.8E-02
CUI: C0920299
Disease: Overriding toe
Overriding toe 		13 13 3 0.10 4 0.14
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		13 17 3 0.10 3 8.8E-02
CUI: C1861324
Disease: Short philtrum
Short philtrum 		24 25 4 0.10 3 7.1E-02