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: C0333759
Disease: Muscle fiber hypertrophy
Muscle fiber hypertrophy
3 1 1 1.3E-02 1 0.17
CUI: C0549423
Disease: Obstructive Hydrocephalus
Obstructive Hydrocephalus
18 1 1 1.1E-02 1 0.17
CUI: C1273957
Disease: Upper limb spasticity
Upper limb spasticity
14 1 1 1.2E-02 1 0.17
Loss of ability to walk in early childhood
4 1 1 1.3E-02 1 0.17
CUI: C1837458
Disease: Impaired smooth pursuit
Impaired smooth pursuit
25 1 1 1.0E-02 1 0.17
CUI: C1846151
Disease: Widened subarachnoid space
Widened subarachnoid space
35 1 4 3.8E-02 1 0.17
CUI: C1855669
Disease: Absent frontal sinuses
Absent frontal sinuses
9 1 1 1.2E-02 1 0.17
CUI: C1859339
Disease: Midfrontal capillary hemangioma
Midfrontal capillary hemangioma
2 1 1 1.4E-02 1 0.17
Absent distal interphalangeal creases
6 1 1 1.3E-02 1 0.17
CUI: C1970591
Disease: Abnormal pupillary light reflex
Abnormal pupillary light reflex
2 1 1 1.4E-02 1 0.17
Complete duplication of thumb phalanx
8 1 1 1.3E-02 1 0.17
CUI: C3805692
Disease: Hyperpigmented nevi and streak
Hyperpigmented nevi and streak
1 1 1 1.4E-02 1 0.17
CUI: C4021845
Disease: Oromotor apraxia
Oromotor apraxia
5 1 1 1.3E-02 1 0.17
CUI: C4025537
Disease: Humerus varus
Humerus varus
2 1 1 1.4E-02 1 0.17
Abnormal timing of pattern reversal visual evoked potentials
1 1 1 1.4E-02 1 0.17
Abnormality of inferior oblique extraocular muscle
1 1 1 1.4E-02 1 0.17
CUI: C0428282
Disease: Serum creatinine low
Serum creatinine low
4 2 1 1.3E-02 1 0.14
CUI: C0428977
Disease: Bradycardia
Bradycardia
63 2 1 7.4E-03 1 0.14
CUI: C0431928
Disease: Congenital overgrowth of lower limb
Congenital overgrowth of lower limb
2 2 1 1.4E-02 1 0.14
CUI: C0476287
Disease: Breath-holding spell
Breath-holding spell
3 2 1 1.3E-02 1 0.14
CUI: C1446712
Disease: Overlapping fingers
Overlapping fingers
27 2 2 2.0E-02 1 0.14
CUI: C1829460
Disease: Tongue thrusting
Tongue thrusting
5 2 2 2.6E-02 1 0.14
Decreased circulating cortisol level
23 2 1 1.1E-02 1 0.14
CUI: C1838114
Disease: Generalized limb muscle atrophy
Generalized limb muscle atrophy
21 2 1 1.1E-02 1 0.14
CUI: C1852504
Disease: Misalignment of teeth
Misalignment of teeth
22 2 1 1.1E-02 1 0.14