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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		942 164 281 0.25 7 3.2E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		574 49 192 0.23 5 4.7E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		734 0 219 0.22 0 0
CUI: C0033377
Disease: Ptosis
Ptosis 		558 0 186 0.22 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1458 505 348 0.22 28 5.2E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		855 0 230 0.21 0 0
CUI: C1836038
Disease: Poor head control
Poor head control 		162 13 100 0.19 4 5.6E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		954 579 226 0.19 16 2.6E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		682 85 181 0.19 7 5.0E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		232 72 109 0.19 7 5.5E-02
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		281 0 115 0.18 0 0
CUI: C0036572
Disease: Seizures
Seizures 		1292 417 266 0.18 23 5.0E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		803 83 180 0.17 9 6.6E-02
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		161 0 88 0.17 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		304 15 108 0.16 1 1.3E-02
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 173 0.16 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 173 0.16 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		1259 0 235 0.16 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 129 0.16 4 3.3E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		324 78 105 0.15 5 3.7E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		319 21 104 0.15 4 5.1E-02
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		169 17 82 0.15 5 6.8E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		491 39 124 0.15 3 3.1E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		609 17 138 0.15 1 1.3E-02
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		556 192 131 0.15 8 3.3E-02