Source: INFERRED ×
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: C0349588
Disease: Short stature
Short stature 		1122 292 1 8.9E-04 1 3.4E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 1 6.3E-03 1 4.0E-03
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 1 2.4E-02 1 1.8E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		574 52 1 1.7E-03 1 1.9E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		596 47 1 1.7E-03 1 2.1E-02
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		250 43 1 4.0E-03 1 2.3E-02
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		284 39 1 3.5E-03 1 2.5E-02
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		259 35 1 3.9E-03 1 2.8E-02
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		6 33 1 0.17 2 6.1E-02
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		210 32 1 4.8E-03 1 3.0E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		320 22 1 3.1E-03 1 4.3E-02
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		81 21 1 1.2E-02 1 4.5E-02
CUI: C0152421
Disease: Macrotia
Macrotia 		188 18 1 5.3E-03 1 5.3E-02
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		216 16 1 4.6E-03 1 5.9E-02
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 16 1 1.2E-02 1 5.9E-02
CUI: C0026034
Disease: Microstomia
Microstomia 		171 9 1 5.8E-03 1 1.0E-01
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		77 9 1 1.3E-02 1 1.0E-01
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		121 8 1 8.3E-03 1 0.11
CUI: C0578038
Disease: Thin lips
Thin lips 		99 8 1 1.0E-02 1 0.11
CUI: C0423757
Disease: Thin skin
Thin skin 		77 4 1 1.3E-02 1 0.20
CUI: C1856121
Disease: Broad eyebrow
Broad eyebrow 		11 4 1 9.1E-02 1 0.20
CUI: C1866806
Disease: Unilateral ptosis
Unilateral ptosis 		6 4 1 0.17 1 0.20
CUI: C0032326
Disease: Pneumothorax
Pneumothorax 		30 3 1 3.3E-02 1 0.25
CUI: C4023165
Disease: Abnormality of skeletal morphology
Abnormality of skeletal morphology 		1 2 1 1.00 2 1.00
CUI: C4317152
Disease: Dimple chin
Dimple chin 		16 2 1 6.2E-02 1 0.33