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 0 1 3.0E-03 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 1 4.2E-03 0 0
CUI: C0349588
Disease: Short stature
Short stature 		190 0 1 5.3E-03 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		88 0 1 1.1E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 0 1 1.6E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 0 1 2.2E-02 0 0
CUI: C0027092
Disease: Myopia
Myopia 		45 0 1 2.2E-02 0 0
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		31 0 1 3.2E-02 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		24 0 1 4.2E-02 0 0
CUI: C2673410
Disease: Small midface
Small midface 		23 0 1 4.3E-02 0 0
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		19 0 1 5.3E-02 0 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		19 0 1 5.3E-02 0 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		19 0 1 5.3E-02 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		17 0 1 5.9E-02 0 0
CUI: C0271183
Disease: Severe myopia
Severe myopia 		16 0 1 6.2E-02 0 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		16 0 1 6.2E-02 0 0
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		16 0 1 6.2E-02 0 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		15 0 1 6.7E-02 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		15 0 1 6.7E-02 0 0
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		15 0 1 6.7E-02 0 0
CUI: C0456909
Disease: Blindness
Blindness 		15 0 1 6.7E-02 0 0
CUI: C0013132
Disease: Drooling
Drooling 		14 0 1 7.1E-02 0 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		14 0 1 7.1E-02 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		12 0 1 8.3E-02 0 0
CUI: C0426817
Disease: Short ribs
Short ribs 		12 0 1 8.3E-02 0 0