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: C1527366
Disease: Salaam Seizures
Salaam Seizures 		7 7 4 0.20 4 0.17
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia 		5 5 3 0.16 3 0.13
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		21 27 5 0.15 6 0.14
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		7 10 3 0.14 3 0.11
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		9 9 3 0.13 3 0.11
CUI: C1855650
Disease: Birth length less than 3rd percentile
Birth length less than 3rd percentile 		11 13 3 0.12 5 0.17
CUI: C0270820
Disease: Gelastic Epilepsy
Gelastic Epilepsy 		2 2 2 0.12 2 9.5E-02
CUI: C0277799
Disease: Intermittent fever
Intermittent fever 		2 2 2 0.12 2 9.5E-02
CUI: C1842777
Disease: Recurrent upper and lower respiratory tract infections
Recurrent upper and lower respiratory tract infections 		2 2 2 0.12 2 9.5E-02
CUI: C1846059
Disease: Roifman syndrome
Roifman syndrome 		2 7 2 0.12 2 7.7E-02
CUI: C1859452
Disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 		2 0 2 0.12 0 0
CUI: C0017152
Disease: Gastritis
Gastritis 		3 3 2 0.11 2 9.1E-02
CUI: C0740852
Disease: Upper airway obstruction
Upper airway obstruction 		3 3 2 0.11 2 9.1E-02
CUI: C1849683
Disease: No social interaction
No social interaction 		3 3 2 0.11 2 9.1E-02
CUI: C4476567
Disease: Reduced brain choline level by MRS
Reduced brain choline level by MRS 		3 3 2 0.11 2 9.1E-02
CUI: C0013132
Disease: Drooling
Drooling 		14 14 3 0.11 3 9.4E-02
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		4 5 2 0.11 2 8.3E-02
CUI: C0152020
Disease: Gastroparesis
Gastroparesis 		5 7 2 1.0E-01 2 7.7E-02
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		5 6 2 1.0E-01 2 8.0E-02
CUI: C4025616
Disease: CNS hypomyelination
CNS hypomyelination 		5 6 2 1.0E-01 2 8.0E-02
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		5 5 2 1.0E-01 2 8.3E-02
CUI: C1837142
Disease: Poor suck
Poor suck 		28 31 4 9.8E-02 6 0.13
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		6 5 2 9.5E-02 2 8.3E-02
CUI: C4021217
Disease: EEG with generalized slow activity
EEG with generalized slow activity 		6 6 2 9.5E-02 2 8.0E-02
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		7 9 2 9.1E-02 4 0.15