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: C4022801
Disease: Elevated CSF dopamine level
Elevated CSF dopamine level 		2 1 2 0.29 1 0.50
CUI: C4524082
Disease: Segawa syndrome
Segawa syndrome 		2 0 2 0.29 0 0
CUI: C1837639
Disease: Intermittent hypothermia
Intermittent hypothermia 		3 0 2 0.25 0 0
CUI: C0268467
Disease: Hyperphenylalaninemia, BH4-Deficient, B
Hyperphenylalaninemia, BH4-Deficient, B 		4 0 2 0.22 0 0
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		4 0 2 0.22 0 0
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		5 0 2 0.20 0 0
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		6 0 2 0.18 0 0
CUI: C1291564
Disease: Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of aromatic-L-amino-acid decarboxylase 		7 16 2 0.17 1 5.9E-02
CUI: C0085637
Disease: Oculogyric crisis
Oculogyric crisis 		9 0 2 0.14 0 0
CUI: C0221727
Disease: Pain in esophagus (finding)
Pain in esophagus (finding) 		1 0 1 0.14 0 0
CUI: C0234174
Disease: Sucking reflex
Sucking reflex 		1 0 1 0.14 0 0
CUI: C0234966
Disease: Astasia
Astasia 		1 0 1 0.14 0 0
CUI: C0580550
Disease: Lymphocyte count abnormal
Lymphocyte count abnormal 		1 1 1 0.14 1 0.50
CUI: C0751436
Disease: Hyperphenylalaninemia, Non-Phenylketonuric
Hyperphenylalaninemia, Non-Phenylketonuric 		9 0 2 0.14 0 0
CUI: C3806688
Disease: Solute carrier family 35 member A2 congenital disorder of glycosylation
Solute carrier family 35 member A2 congenital disorder of glycosylation 		1 12 1 0.14 1 7.7E-02
CUI: C4020941
Disease: Sclerosis of finger phalanx
Sclerosis of finger phalanx 		1 0 1 0.14 0 0
CUI: C4022589
Disease: Fatigable weakness of speech muscles
Fatigable weakness of speech muscles 		1 0 1 0.14 0 0
CUI: C4022943
Disease: Decreased galactosylation of N-linked protein glycosylation
Decreased galactosylation of N-linked protein glycosylation 		1 0 1 0.14 0 0
CUI: C4024638
Disease: Transient nephrotic syndrome
Transient nephrotic syndrome 		1 0 1 0.14 0 0
CUI: C4073157
Disease: Decreased CSF biopterin level
Decreased CSF biopterin level 		1 0 1 0.14 0 0
CUI: C4476572
Disease: Elevated brain N-acetyl aspartate level by MRS
Elevated brain N-acetyl aspartate level by MRS 		1 0 1 0.14 0 0
CUI: C4476790
Disease: Decreased CSF protein
Decreased CSF protein 		1 0 1 0.14 0 0
CUI: C4476805
Disease: Increased circulating thyroglobulin level
Increased circulating thyroglobulin level 		1 0 1 0.14 0 0
CUI: C4476891
Disease: Decreased CSF/serum albumin ratio
Decreased CSF/serum albumin ratio 		1 0 1 0.14 0 0
CUI: C4476893
Disease: Reduced brain glutamine level by MRS
Reduced brain glutamine level by MRS 		1 0 1 0.14 0 0