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: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		14 0 2 8.0E-02 0 0
CUI: C1833508
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET 		1 0 1 7.7E-02 0 0
CUI: C1833511
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE 		1 0 1 7.7E-02 0 0
CUI: C1833518
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		1 0 1 7.7E-02 0 0
CUI: C1837273
Disease: Long-chain dicarboxylic aciduria
Long-chain dicarboxylic aciduria 		1 0 1 7.7E-02 0 0
CUI: C1854934
Disease: Progressive alveolar ridge hypertropy
Progressive alveolar ridge hypertropy 		1 0 1 7.7E-02 0 0
CUI: C1854940
Disease: Lower thoracic interpediculate narrowness
Lower thoracic interpediculate narrowness 		1 0 1 7.7E-02 0 0
CUI: C1854941
Disease: Beaking of vertebral bodies T12-L3
Beaking of vertebral bodies T12-L3 		1 0 1 7.7E-02 0 0
CUI: C1854948
Disease: Varus deformity of humeral neck
Varus deformity of humeral neck 		1 0 1 7.7E-02 0 0
CUI: C1854952
Disease: Bullet-shaped phalanges of the hand
Bullet-shaped phalanges of the hand 		1 0 1 7.7E-02 0 0
CUI: C1881170
Disease: Inappropriate sinus tachycardia
Inappropriate sinus tachycardia 		1 0 1 7.7E-02 0 0
CUI: C2673375
Disease: Mucolipidosis III Alpha Beta, Atypical
Mucolipidosis III Alpha Beta, Atypical 		1 0 1 7.7E-02 0 0
CUI: C2931894
Disease: Mucolipidosis 2
Mucolipidosis 2 		1 0 1 7.7E-02 0 0
CUI: C3280160
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 		1 0 1 7.7E-02 0 0
CUI: C4023074
Disease: EEG with parietal focal spikes
EEG with parietal focal spikes 		1 0 1 7.7E-02 0 0
CUI: C4025256
Disease: Arthralgia/arthritis
Arthralgia/arthritis 		1 0 1 7.7E-02 0 0
CUI: C4748427
Disease: SQUALENE SYNTHASE DEFICIENCY
SQUALENE SYNTHASE DEFICIENCY 		1 0 1 7.7E-02 0 0
CUI: C0406756
Disease: Keratolytic winter erythema
Keratolytic winter erythema 		2 0 1 7.1E-02 0 0
CUI: C0750968
Disease: Central Nervous System Metabolic Disorders
Central Nervous System Metabolic Disorders 		2 0 1 7.1E-02 0 0
CUI: C0751743
Disease: Metabolic Disorder, Central Nervous System, Acquired
Metabolic Disorder, Central Nervous System, Acquired 		2 0 1 7.1E-02 0 0
CUI: C0751744
Disease: Brain Diseases, Metabolic, Acquired
Brain Diseases, Metabolic, Acquired 		2 0 1 7.1E-02 0 0
CUI: C1135773
Disease: Acquired Metabolic Diseases, Nervous System
Acquired Metabolic Diseases, Nervous System 		2 0 1 7.1E-02 0 0
CUI: C1696466
Disease: Hepatic calcification
Hepatic calcification 		2 0 1 7.1E-02 0 0
CUI: C1837247
Disease: Antenatal intracerebral hemorrhage
Antenatal intracerebral hemorrhage 		2 0 1 7.1E-02 0 0
CUI: C1854896
Disease: Mucolipidosis III Gamma
Mucolipidosis III Gamma 		2 0 1 7.1E-02 0 0