Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Sensorineural Hearing Loss (disorder)
783 111 214 0.18 1 8.2E-03
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
315 0 138 0.18 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
611 158 182 0.18 2 1.2E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
536 0 162 0.17 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
740 0 190 0.16 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria
487 0 154 0.16 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
429 0 141 0.16 0 0
CUI: C1836038
Disease: Poor head control
Poor head control
162 0 104 0.16 0 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
422 0 139 0.16 0 0
CUI: C0848558
Disease: Hypospadias
Hypospadias
366 0 131 0.16 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
426 0 137 0.15 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
560 0 153 0.15 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
2165 159 363 0.15 1 5.9E-03
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
223 0 108 0.15 0 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia
216 0 107 0.15 0 0
CUI: C0239676
Disease: High forehead
High forehead
211 0 106 0.15 0 0
CUI: C0036572
Disease: Seizures
Seizures
2152 553 357 0.15 2 3.6E-03
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
426 0 133 0.15 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
312 0 118 0.15 0 0
CUI: C0003578
Disease: Apnea
Apnea
262 0 111 0.15 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
539 0 144 0.14 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
333 0 118 0.14 0 0
CUI: C1854301
Disease: Motor delay
Motor delay
384 0 124 0.14 0 0
CUI: C0040822
Disease: Tremor
Tremor
528 0 142 0.14 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
384 0 123 0.14 0 0