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: C1291564
Disease: Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of aromatic-L-amino-acid decarboxylase 		7 16 5 0.71 7 0.44
CUI: C1829648
Disease: Amino acidemias
Amino acidemias 		1 0 1 0.20 0 0
CUI: C4017280
Disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY 		1 0 1 0.20 0 0
CUI: C4310632
Disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT 		1 0 1 0.20 0 0
CUI: C0085637
Disease: Oculogyric crisis
Oculogyric crisis 		9 0 2 0.17 0 0
CUI: C1291560
Disease: Deficiency of glutamate decarboxylase
Deficiency of glutamate decarboxylase 		2 0 1 0.17 0 0
CUI: C4022801
Disease: Elevated CSF dopamine level
Elevated CSF dopamine level 		2 0 1 0.17 0 0
CUI: C1837639
Disease: Intermittent hypothermia
Intermittent hypothermia 		3 2 1 0.14 1 0.12
CUI: C2931835
Disease: Hyperprolinemia type 2
Hyperprolinemia type 2 		3 0 1 0.14 0 0
CUI: C1863052
Disease: ALZHEIMER DISEASE, FAMILIAL, 1
ALZHEIMER DISEASE, FAMILIAL, 1 		4 0 1 0.12 0 0
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		5 0 1 0.11 0 0
CUI: C0238472
Disease: TOXOPLASMOSIS, CHRONIC
TOXOPLASMOSIS, CHRONIC 		6 0 1 1.0E-01 0 0
CUI: C0268464
Disease: Transient hyperphenylalaninemia
Transient hyperphenylalaninemia 		6 0 1 1.0E-01 0 0
CUI: C0268465
Disease: Phenylketonuria II
Phenylketonuria II 		6 0 1 1.0E-01 0 0
CUI: C0027429
Disease: Nasal obstruction present finding
Nasal obstruction present finding 		7 0 1 9.1E-02 0 0
CUI: C1291312
Disease: Deficiency of oxidase
Deficiency of oxidase 		7 0 1 9.1E-02 0 0
CUI: C4280803
Disease: Decreased CSF homovanillic acid
Decreased CSF homovanillic acid 		7 0 1 9.1E-02 0 0
CUI: C0751436
Disease: Hyperphenylalaninemia, Non-Phenylketonuric
Hyperphenylalaninemia, Non-Phenylketonuric 		9 0 1 7.7E-02 0 0
CUI: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency 		10 0 1 7.1E-02 0 0
CUI: C0334419
Disease: Pheochromocytoma, malignant
Pheochromocytoma, malignant 		11 0 1 6.7E-02 0 0
CUI: C0936215
Disease: Vitamin B 6 Deficiency
Vitamin B 6 Deficiency 		11 0 1 6.7E-02 0 0
CUI: C0033893
Disease: Tension Headache
Tension Headache 		12 0 1 6.2E-02 0 0
CUI: C0393574
Disease: Huntington Disease, Late Onset
Huntington Disease, Late Onset 		12 0 1 6.2E-02 0 0
CUI: C0751207
Disease: Akinetic-Rigid Variant of Huntington Disease
Akinetic-Rigid Variant of Huntington Disease 		12 0 1 6.2E-02 0 0
CUI: C0751208
Disease: Juvenile Huntington Disease
Juvenile Huntington Disease 		12 0 1 6.2E-02 0 0