Source: INFERRED ×
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: C4551505
Disease: Methylcrotonyl-CoA carboxylase deficiency
Methylcrotonyl-CoA carboxylase deficiency 		1 1 1 1.00 1 4.0E-02
CUI: C4025020
Disease: Acute hepatic steatosis
Acute hepatic steatosis 		2 0 1 0.50 0 0
CUI: C1859506
Disease: Acute hyperammonemia
Acute hyperammonemia 		5 0 1 0.20 0 0
CUI: C1859516
Disease: Episodic metabolic acidosis
Episodic metabolic acidosis 		5 0 1 0.20 0 0
CUI: C0241775
Disease: Organic aciduria
Organic aciduria 		12 0 1 8.3E-02 0 0
CUI: C4022001
Disease: Abnormality of the cerebral vasculature
Abnormality of the cerebral vasculature 		18 0 1 5.6E-02 0 0
CUI: C0162275
Disease: Ketonuria
Ketonuria 		24 0 1 4.2E-02 0 0
CUI: C0151818
Disease: Opisthotonus
Opisthotonus 		31 0 1 3.2E-02 0 0
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		47 0 1 2.1E-02 0 0
CUI: C0009421
Disease: Comatose
Comatose 		70 0 1 1.4E-02 0 0
CUI: C0424230
Disease: Motor retardation
Motor retardation 		92 0 1 1.1E-02 0 0
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		97 0 1 1.0E-02 0 0
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		120 0 1 8.3E-03 0 0
CUI: C0023380
Disease: Lethargy
Lethargy 		143 0 1 7.0E-03 0 0
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		153 0 1 6.5E-03 0 0
CUI: C0003578
Disease: Apnea
Apnea 		172 0 1 5.8E-03 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		196 0 1 5.1E-03 0 0
CUI: C0042963
Disease: Vomiting
Vomiting 		197 0 1 5.1E-03 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		304 0 1 3.3E-03 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 1 3.3E-03 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		476 0 1 2.1E-03 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		491 0 1 2.0E-03 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		536 0 1 1.9E-03 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		734 0 1 1.4E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		942 0 1 1.1E-03 0 0