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: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 18 4.7E-02 2 8.3E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 7 3.0E-02 2 8.1E-03
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		139 9 4 1.9E-02 1 8.3E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 21 2.7E-02 1 1.2E-02
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		70 21 7 5.0E-02 1 4.2E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 36 13 3.9E-02 1 2.6E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		384 96 10 2.2E-02 1 1.0E-02
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 48 18 6.5E-02 1 2.0E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 53 29 4.6E-02 1 1.8E-02
CUI: C0026034
Disease: Microstomia
Microstomia 		172 9 14 6.0E-02 1 8.3E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 23 2.3E-02 1 1.7E-03
CUI: C0029453
Disease: Osteopenia
Osteopenia 		845 61 30 3.4E-02 1 1.6E-02
CUI: C0032326
Disease: Pneumothorax
Pneumothorax 		69 3 7 5.0E-02 1 0.17
CUI: C0038379
Disease: Strabismus
Strabismus 		716 89 21 2.7E-02 1 1.1E-02
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 15 28 0.10 1 5.6E-02
CUI: C0151908
Disease: Dry skin
Dry skin 		159 12 15 6.8E-02 1 6.7E-02
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		267 80 4 1.2E-02 1 1.2E-02
CUI: C0152421
Disease: Macrotia
Macrotia 		188 18 10 3.9E-02 1 4.8E-02
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		45 78 5 4.3E-02 1 1.2E-02
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight 		1 2 1 1.3E-02 1 0.20
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		239 31 6 1.9E-02 1 2.9E-02
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		80 9 6 4.0E-02 1 8.3E-02
CUI: C0263490
Disease: Brittle hair
Brittle hair 		45 1 5 4.3E-02 1 0.25
CUI: C0266037
Disease: Peg-shaped teeth
Peg-shaped teeth 		17 2 4 4.4E-02 1 0.20
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		210 32 11 4.0E-02 1 2.9E-02