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: C0011053
Disease: Deafness
Deafness 		23 0 17 0.18 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		39 44 14 0.12 4 1.3E-02
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		18 61 9 9.3E-02 26 8.9E-02
CUI: C0027092
Disease: Myopia
Myopia 		45 52 10 8.1E-02 4 1.3E-02
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		9 16 7 7.8E-02 2 7.4E-03
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		10 145 7 7.7E-02 1 2.5E-03
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 10 7.1E-02 3 9.1E-03
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		124 192 14 7.1E-02 8 1.8E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 9 6.4E-02 3 8.8E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 13 6.4E-02 4 9.6E-03
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		14 67 6 6.2E-02 2 6.2E-03
CUI: C0020490
Disease: Hyperopia
Hyperopia 		16 17 6 6.1E-02 3 1.1E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 8 5.9E-02 3 9.4E-03
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		39 51 7 5.8E-02 4 1.3E-02
CUI: C1861324
Disease: Short philtrum
Short philtrum 		24 25 6 5.7E-02 4 1.4E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 13 5.5E-02 10 2.0E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 7 5.5E-02 3 9.8E-03
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		8 0 5 5.5E-02 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		30 38 6 5.4E-02 3 1.0E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		30 35 6 5.4E-02 2 6.9E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 16 5.2E-02 1 1.7E-03
CUI: C0036572
Disease: Seizures
Seizures 		237 417 16 5.2E-02 10 1.5E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 6 5.1E-02 5 1.7E-02
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		15 22 5 5.1E-02 2 7.2E-03
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		78 0 8 5.1E-02 0 0