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: C0523852
Disease: Proline measurement
Proline measurement 		1 0 1 1.00 0 0
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency 		2 11 1 0.50 6 0.50
CUI: C0428209
Disease: Leucine measurement
Leucine measurement 		2 0 1 0.50 0 0
CUI: C0523459
Disease: Alanine measurement
Alanine measurement 		3 0 1 0.33 0 0
CUI: C0202174
Disease: blood phenylalanine measurement by Guthrie microbiologic assay
blood phenylalanine measurement by Guthrie microbiologic assay 		4 0 1 0.25 0 0
CUI: C0268528
Disease: Hyperprolinemia
Hyperprolinemia 		4 3 1 0.25 2 0.25
CUI: C0337446
Disease: Tyrosine measurement
Tyrosine measurement 		4 0 1 0.25 0 0
CUI: C0398626
Disease: Heparin cofactor II deficiency (disorder)
Heparin cofactor II deficiency (disorder) 		4 0 1 0.25 0 0
CUI: C0523920
Disease: Threonine measurement
Threonine measurement 		4 0 1 0.25 0 0
CUI: C0268534
Disease: Prolinuria
Prolinuria 		6 0 1 0.17 0 0
CUI: C0948585
Disease: Hydroxyprolinuria
Hydroxyprolinuria 		8 0 1 0.12 0 0
CUI: C0543918
Disease: SCHIZOPHRENIA 10
SCHIZOPHRENIA 10 		10 0 1 1.0E-01 0 0
CUI: C0027854
Disease: Neurologic Manifestations
Neurologic Manifestations 		12 0 1 8.3E-02 0 0
CUI: C0750905
Disease: Amino Acid Metabolism, Inherited Disorders
Amino Acid Metabolism, Inherited Disorders 		13 0 1 7.7E-02 0 0
CUI: C0007398
Disease: Catatonia
Catatonia 		14 0 1 7.1E-02 0 0
CUI: C0543541
Disease: HYPERGLYCINURIA (disorder)
HYPERGLYCINURIA (disorder) 		14 0 1 7.1E-02 0 0
CUI: C0020617
Disease: Hypoglycemic coma
Hypoglycemic coma 		19 0 1 5.3E-02 0 0
CUI: C0002514
Disease: Amino Acid Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors 		20 0 1 5.0E-02 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 2 1 3.2E-02 1 0.12
CUI: C2986717
Disease: Anti-N-Methyl-D-Aspartate Receptor Encephalitis
Anti-N-Methyl-D-Aspartate Receptor Encephalitis 		43 0 1 2.3E-02 0 0
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		46 0 1 2.2E-02 0 0
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		52 0 1 1.9E-02 0 0
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		53 0 1 1.9E-02 0 0
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		57 0 1 1.8E-02 0 0
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		60 0 1 1.7E-02 0 0