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: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 0 69 0.14 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 186 0.14 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 78 84 0.14 2 1.7E-02
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		305 0 89 0.14 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 192 119 0.14 5 2.2E-02
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 11 69 0.14 1 2.0E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 72 0.14 2 3.3E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 82 0.13 4 5.6E-02
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 70 0.13 3 4.9E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		2165 159 293 0.13 2 1.0E-02
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 7 67 0.13 1 2.2E-02
CUI: C0423113
Disease: Telecanthus
Telecanthus 		134 14 63 0.13 2 3.9E-02
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 94 76 0.13 1 7.6E-03
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 90 0.12 1 7.5E-03
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 5 55 0.12 2 4.8E-02
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		225 0 72 0.12 0 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		217 0 71 0.12 0 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		385 49 89 0.12 2 2.3E-02
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 350 73 0.12 2 5.2E-03
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		225 0 69 0.12 0 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 0 64 0.12 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		740 0 122 0.12 0 0
CUI: C1853241
Disease: Flat face
Flat face 		83 7 53 0.12 2 4.5E-02
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		355 0 81 0.12 0 0
CUI: C0576226
Disease: Short foot
Short foot 		116 0 56 0.12 0 0