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: C4273952
Disease: Folinic acid responsive seizure syndrome
Folinic acid responsive seizure syndrome 		1 0 1 0.33 0 0
CUI: C4310632
Disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT 		1 0 1 0.33 0 0
CUI: C1291312
Disease: Deficiency of oxidase
Deficiency of oxidase 		7 0 2 0.25 0 0
CUI: C1291560
Disease: Deficiency of glutamate decarboxylase
Deficiency of glutamate decarboxylase 		2 0 1 0.25 0 0
CUI: C0268528
Disease: Hyperprolinemia
Hyperprolinemia 		4 3 1 0.17 1 0.14
CUI: C0741585
Disease: BODY ACHE
BODY ACHE 		4 0 1 0.17 0 0
CUI: C0342686
Disease: Aromatic amino acid decarboxylase deficiency
Aromatic amino acid decarboxylase deficiency 		5 0 1 0.14 0 0
CUI: C0268534
Disease: Prolinuria
Prolinuria 		6 0 1 0.12 0 0
CUI: C1291564
Disease: Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of aromatic-L-amino-acid decarboxylase 		7 0 1 0.11 0 0
CUI: C0948585
Disease: Hydroxyprolinuria
Hydroxyprolinuria 		8 0 1 1.0E-01 0 0
CUI: C4554007
Disease: Uveoretinal Coloboma
Uveoretinal Coloboma 		8 0 1 1.0E-01 0 0
CUI: C0231706
Disease: Circling gait
Circling gait 		9 0 1 9.1E-02 0 0
CUI: C1849508
Disease: EPILEPSY, PYRIDOXINE-DEPENDENT
EPILEPSY, PYRIDOXINE-DEPENDENT 		25 0 2 7.7E-02 0 0
CUI: C1849510
Disease: Prenatal movement abnormality
Prenatal movement abnormality 		11 0 1 7.7E-02 0 0
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		27 0 2 7.1E-02 0 0
CUI: C0543541
Disease: HYPERGLYCINURIA (disorder)
HYPERGLYCINURIA (disorder) 		14 0 1 6.2E-02 0 0
CUI: C2931205
Disease: Usher syndrome, type 1A
Usher syndrome, type 1A 		14 0 1 6.2E-02 0 0
CUI: C0021290
Disease: Neonatal disorder
Neonatal disorder 		15 0 1 5.9E-02 0 0
CUI: C0391958
Disease: Familial Epilepsies
Familial Epilepsies 		16 0 1 5.6E-02 0 0
CUI: C0159020
Disease: Convulsions in the newborn
Convulsions in the newborn 		17 0 1 5.3E-02 0 0
CUI: C1271398
Disease: Pigment dispersion syndrome (disorder)
Pigment dispersion syndrome (disorder) 		18 0 1 5.0E-02 0 0
CUI: C3890602
Disease: Bodily Pain
Bodily Pain 		22 0 1 4.2E-02 0 0
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		23 0 1 4.0E-02 0 0
CUI: C0334438
Disease: Superficial spreading malignant melanoma of skin
Superficial spreading malignant melanoma of skin 		25 0 1 3.7E-02 0 0
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		32 0 1 2.9E-02 0 0