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: C4551485
Disease: Clinodactyly
Clinodactyly 		148 0 37 0.15 0 0
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		160 7 38 0.14 1 2.9E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 0 41 0.13 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 14 30 0.13 1 2.4E-02
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 21 28 0.12 1 2.0E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 27 0.11 4 6.2E-02
CUI: C0576226
Disease: Short foot
Short foot 		116 0 26 0.11 0 0
CUI: C0575802
Disease: Small hand
Small hand 		108 31 25 0.11 2 3.4E-02
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		106 20 24 0.11 2 4.3E-02
CUI: C0566620
Disease: Nasal voice
Nasal voice 		93 3 21 9.8E-02 1 3.2E-02
CUI: C1843108
Disease: Short palm
Short palm 		110 13 22 9.6E-02 1 2.4E-02
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		181 19 28 9.5E-02 1 2.1E-02
CUI: C0015310
Disease: Exotropia
Exotropia 		78 23 19 9.5E-02 2 4.0E-02
CUI: C0556280
Disease: Gross motor impairment
Gross motor impairment 		22 2 14 9.3E-02 1 3.3E-02
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 0 30 9.1E-02 0 0
CUI: C0004106
Disease: Astigmatism
Astigmatism 		148 45 24 9.0E-02 1 1.4E-02
CUI: C3203358
Disease: Hypoventilation
Hypoventilation 		28 0 14 9.0E-02 0 0
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation 		41 0 15 8.9E-02 0 0
CUI: C1857632
Disease: Narrow palm
Narrow palm 		17 0 13 8.9E-02 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 57 8.8E-02 1 4.5E-03
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		169 45 25 8.7E-02 1 1.4E-02
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 26 8.7E-02 2 3.8E-02
CUI: C0020505
Disease: Hyperphagia
Hyperphagia 		60 0 16 8.6E-02 0 0
CUI: C1849923
Disease: Generalized hypopigmentation
Generalized hypopigmentation 		23 0 13 8.6E-02 0 0
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		74 0 17 8.5E-02 0 0