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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 45 4.4E-02 1 1.7E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 34 1.5E-02 1 1.8E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 337 37 4.6E-02 1 2.9E-03
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		613 283 19 2.7E-02 1 3.5E-03
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		255 282 18 5.2E-02 1 3.5E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 19 2.9E-02 1 5.1E-03
CUI: C0027092
Disease: Myopia
Myopia 		490 167 36 6.4E-02 1 5.8E-03
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 158 34 5.0E-02 1 6.1E-03
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		295 70 20 5.2E-02 1 1.3E-02
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		6 61 2 1.8E-02 1 1.5E-02
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		130 50 2 8.4E-03 1 1.8E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 22 4.6E-02 1 1.9E-02
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 48 51 0.18 2 3.8E-02
CUI: C0000846
Disease: Agenesis
Agenesis 		161 44 26 0.11 2 4.2E-02
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		119 43 10 4.6E-02 1 2.1E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 34 9.5E-02 1 2.3E-02
CUI: C4082304
Disease: Oligodontia
Oligodontia 		62 34 22 0.15 1 2.6E-02
CUI: C4021813
Disease: Oral cleft
Oral cleft 		85 28 6 3.2E-02 1 3.0E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 13 4.2E-02 1 3.3E-02
CUI: C1835492
Disease: TOOTH AGENESIS, SELECTIVE, 4 (disorder)
TOOTH AGENESIS, SELECTIVE, 4 (disorder) 		1 24 1 9.2E-03 2 7.1E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 13 4.6E-02 1 4.0E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 19 16 5.1E-02 1 4.2E-02
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		71 17 2 1.1E-02 1 4.5E-02
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		71 16 18 0.11 1 4.8E-02
CUI: C0796093
Disease: Odontoonychodermal dysplasia
Odontoonychodermal dysplasia 		1 15 1 9.2E-03 1 5.0E-02