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)
783 111 217 0.19 2 1.2E-02
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
315 0 139 0.18 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
611 158 184 0.18 2 9.4E-03
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
536 87 163 0.17 8 5.9E-02
CUI: C0013362
Disease: Dysarthria
Dysarthria
487 0 155 0.17 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
740 337 190 0.17 1 2.5E-03
CUI: C1836038
Disease: Poor head control
Poor head control
162 13 106 0.16 2 2.9E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
429 29 143 0.16 7 8.9E-02
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
422 0 140 0.16 0 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
312 0 123 0.16 0 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
426 87 138 0.16 2 1.4E-02
CUI: C0848558
Disease: Hypospadias
Hypospadias
366 0 129 0.16 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
2165 159 368 0.15 1 4.7E-03
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
223 19 109 0.15 4 5.6E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
426 39 136 0.15 5 5.5E-02
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia
216 0 108 0.15 0 0
CUI: C0239676
Disease: High forehead
High forehead
211 17 107 0.15 3 4.2E-02
CUI: C0036572
Disease: Seizures
Seizures
2152 553 360 0.15 9 1.5E-02
CUI: C1854301
Disease: Motor delay
Motor delay
384 34 128 0.15 5 5.8E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression
333 0 121 0.15 0 0
CUI: C0003578
Disease: Apnea
Apnea
262 0 111 0.15 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
539 19 146 0.15 1 1.3E-02
CUI: C1836047
Disease: Long face
Long face
182 12 100 0.15 2 3.0E-02
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
169 17 98 0.15 1 1.4E-02
CUI: C0040822
Disease: Tremor
Tremor
528 0 144 0.15 0 0