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: C0020676
Disease: Hypothyroidism
Hypothyroidism 		25 0 1 2.0E-02 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 0 3 2.0E-02 0 0
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		23 25 1 2.1E-02 1 5.7E-03
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		23 0 1 2.1E-02 0 0
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		23 0 1 2.1E-02 0 0
CUI: C2673410
Disease: Small midface
Small midface 		23 0 1 2.1E-02 0 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		20 33 1 2.2E-02 1 5.4E-03
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		19 0 1 2.3E-02 0 0
CUI: C0221358
Disease: Long narrow head
Long narrow head 		19 0 1 2.3E-02 0 0
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		19 0 1 2.3E-02 0 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		19 0 1 2.3E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 2 2.3E-02 1 4.1E-03
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		18 0 1 2.3E-02 0 0
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		18 27 1 2.3E-02 1 5.6E-03
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		18 0 1 2.3E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		61 0 2 2.4E-02 0 0
CUI: C0349588
Disease: Short stature
Short stature 		190 292 5 2.4E-02 1 2.3E-03
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		17 0 1 2.4E-02 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		17 22 1 2.4E-02 1 5.8E-03
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		17 0 1 2.4E-02 0 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		17 0 1 2.4E-02 0 0
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		17 0 1 2.4E-02 0 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		16 0 1 2.4E-02 0 0
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		15 0 1 2.5E-02 0 0
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		15 0 1 2.5E-02 0 0