Source: ALL
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: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 4 1.5E-02 3 8.1E-03
CUI: C0431447
Disease: Synophrys
Synophrys 		111 23 7 6.2E-02 2 7.0E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 4 2.4E-02 2 3.9E-03
CUI: C0239594
Disease: Short finger
Short finger 		37 1 1 2.3E-02 1 3.8E-03
CUI: C1849164
Disease: Long, smooth philtrum
Long, smooth philtrum 		1 1 1 0.12 1 3.8E-03
CUI: C1855286
Disease: Long curly eyelashes
Long curly eyelashes 		1 1 1 0.12 1 3.8E-03
CUI: C1861921
Disease: Cutaneous syndactyly
Cutaneous syndactyly 		17 1 1 4.2E-02 1 3.8E-03
CUI: C4015466
Disease: Bilateral clinodactyly
Bilateral clinodactyly 		1 1 1 0.12 1 3.8E-03
CUI: C1856202
Disease: U-Shaped upper lip vermilion
U-Shaped upper lip vermilion 		6 2 1 7.7E-02 1 3.7E-03
CUI: C4310702
Disease: ALAZAMI-YUAN SYNDROME
ALAZAMI-YUAN SYNDROME 		1 2 1 0.12 1 3.7E-03
CUI: C1842878
Disease: Short 5th finger
Short 5th finger 		18 3 2 8.3E-02 1 3.7E-03
CUI: C4020740
Disease: Clinodactyly of the 4th toe
Clinodactyly of the 4th toe 		5 4 1 8.3E-02 1 3.7E-03
CUI: C4025741
Disease: Clinodactyly of the 5th toe
Clinodactyly of the 5th toe 		13 4 1 5.0E-02 1 3.7E-03
CUI: C0431664
Disease: Unilateral Cryptorchidism
Unilateral Cryptorchidism 		17 5 1 4.2E-02 1 3.7E-03
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		85 7 1 1.1E-02 1 3.7E-03
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		86 11 6 6.8E-02 1 3.6E-03
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		141 14 7 4.9E-02 1 3.6E-03
CUI: C0019572
Disease: Hirsutism
Hirsutism 		88 17 6 6.7E-02 1 3.5E-03
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		71 17 7 9.7E-02 1 3.5E-03
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 6 1.5E-02 1 3.3E-03
CUI: C0456070
Disease: Growth delay
Growth delay 		244 40 1 4.0E-03 1 3.3E-03
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 4 1.2E-02 1 3.2E-03
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 3 6.5E-02 1 3.1E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 7 3.8E-03 2 2.4E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 8 3.7E-03 1 2.4E-03