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: C0268465
Disease: Phenylketonuria II
Phenylketonuria II 		6 0 6 0.20 0 0
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		42 385 11 0.18 30 7.6E-02
CUI: C0268464
Disease: Transient hyperphenylalaninemia
Transient hyperphenylalaninemia 		6 0 5 0.16 0 0
CUI: C0751436
Disease: Hyperphenylalaninemia, Non-Phenylketonuric
Hyperphenylalaninemia, Non-Phenylketonuric 		9 2 5 0.15 2 5.3E-02
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		83 46 14 0.14 14 0.20
CUI: C0423319
Disease: Atrophic iris
Atrophic iris 		9 0 4 0.11 0 0
CUI: C0040820
Disease: Trematode Infections
Trematode Infections 		12 0 4 0.11 0 0
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		14 0 4 1.0E-01 0 0
CUI: C0268467
Disease: Hyperphenylalaninemia, BH4-Deficient, B
Hyperphenylalaninemia, BH4-Deficient, B 		4 13 3 9.7E-02 1 2.0E-02
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		28 0 5 9.4E-02 0 0
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		5 38 3 9.4E-02 6 8.6E-02
CUI: C0002351
Disease: Altitude Sickness
Altitude Sickness 		10 0 3 8.1E-02 0 0
CUI: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency 		10 0 3 8.1E-02 0 0
CUI: C0221163
Disease: Motor Disorders
Motor Disorders 		25 0 4 7.8E-02 0 0
CUI: C0752207
Disease: Familial Dystonia
Familial Dystonia 		15 0 3 7.1E-02 0 0
CUI: C0013144
Disease: Drowsiness
Drowsiness 		31 0 4 7.0E-02 0 0
CUI: C1854838
Disease: Progressive neurologic deterioration
Progressive neurologic deterioration 		33 0 4 6.8E-02 0 0
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis 		18 0 3 6.7E-02 0 0
CUI: C0748073
Disease: psychosocial stressor
psychosocial stressor 		18 0 3 6.7E-02 0 0
CUI: C0206648
Disease: Myofibromatosis
Myofibromatosis 		19 0 3 6.5E-02 0 0
CUI: C0268641
Disease: Amino acid transport disorder
Amino acid transport disorder 		3 0 2 6.5E-02 0 0
CUI: C0233488
Disease: Feeling despair
Feeling despair 		21 0 3 6.2E-02 0 0
CUI: C0238284
Disease: Acute mountain sickness
Acute mountain sickness 		21 0 3 6.2E-02 0 0
CUI: C0751629
Disease: Toxoplasmosis, Central Nervous System
Toxoplasmosis, Central Nervous System 		4 0 2 6.2E-02 0 0
CUI: C1370800
Disease: Bile duct adenocarcinoma
Bile duct adenocarcinoma 		4 0 2 6.2E-02 0 0