Source: CLINVAR ×
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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		335 611 1 2.8E-03 1 1.3E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 1 3.9E-03 1 2.0E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 0 1 9.1E-03 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		303 0 3 9.3E-03 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 1 1.0E-02 1 4.0E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 2 1.4E-02 1 2.9E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 5 1.4E-02 4 5.5E-03
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 0 2 1.6E-02 0 0
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		28 0 1 2.0E-02 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		26 35 1 2.1E-02 1 5.2E-03
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		26 31 1 2.1E-02 1 5.3E-03
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		25 28 1 2.1E-02 1 5.4E-03
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		25 0 1 2.1E-02 0 0
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		23 0 1 2.2E-02 0 0
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		22 0 1 2.3E-02 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		21 30 1 2.3E-02 1 5.4E-03
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		20 0 1 2.4E-02 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		20 0 1 2.4E-02 0 0
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		18 61 1 2.5E-02 1 4.6E-03
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		17 0 1 2.6E-02 0 0
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		16 0 1 2.6E-02 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		15 0 1 2.7E-02 0 0
CUI: C0456909
Disease: Blindness
Blindness 		15 0 1 2.7E-02 0 0
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		13 37 1 2.9E-02 1 5.2E-03
CUI: C0426817
Disease: Short ribs
Short ribs 		12 0 1 2.9E-02 0 0