Source: ALL
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: C4225343
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 		1 4 1 1.00 3 0.30
CUI: C0920233
Disease: Pisa syndrome
Pisa syndrome 		4 0 1 0.25 0 0
CUI: C0519066
Disease: Acute Q fever
Acute Q fever 		10 0 1 1.0E-01 0 0
CUI: C0424688
Disease: Small head
Small head 		11 0 1 9.1E-02 0 0
CUI: C0235394
Disease: Wasting
Wasting 		15 0 1 6.7E-02 0 0
CUI: C0080274
Disease: Urinary Retention
Urinary Retention 		17 4 1 5.9E-02 1 8.3E-02
CUI: C0266574
Disease: Ablepharon
Ablepharon 		20 0 1 5.0E-02 0 0
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		20 0 1 5.0E-02 0 0
CUI: C0949445
Disease: Cervical Dystonia
Cervical Dystonia 		23 0 1 4.3E-02 0 0
CUI: C0034362
Disease: Q Fever
Q Fever 		26 0 1 3.8E-02 0 0
CUI: C2939186
Disease: Disturbance in mood
Disturbance in mood 		26 0 1 3.8E-02 0 0
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		30 0 1 3.3E-02 0 0
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		40 0 1 2.5E-02 0 0
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		41 0 1 2.4E-02 0 0
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		43 9 1 2.3E-02 1 5.9E-02
CUI: C0085623
Disease: Akinesia
Akinesia 		43 0 1 2.3E-02 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 1 2.0E-02 0 0
CUI: C2216702
Disease: malignant neoplasm of breast staging
malignant neoplasm of breast staging 		49 0 1 2.0E-02 0 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		62 0 1 1.6E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 1 1.4E-02 0 0
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		71 0 1 1.4E-02 0 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		77 0 1 1.3E-02 0 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		79 0 1 1.3E-02 0 0
CUI: C3887638
Disease: Failure to thrive in infant
Failure to thrive in infant 		81 4 1 1.2E-02 1 8.3E-02
CUI: C0236018
Disease: Aura
Aura 		83 0 1 1.2E-02 0 0