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: C1263739
Disease: Disorder of organic acid metabolism
Disorder of organic acid metabolism 		1 0 1 1.00 0 0
CUI: C1855115
Disease: Methylmalonic Aciduria, mut(0) Type
Methylmalonic Aciduria, mut(0) Type 		1 0 1 1.00 0 0
CUI: C2931536
Disease: Methylmalonyl-Coenzyme A mutase deficiency
Methylmalonyl-Coenzyme A mutase deficiency 		1 0 1 1.00 0 0
CUI: C0348484
Disease: Other disorders of branched-chain amino-acid metabolism
Other disorders of branched-chain amino-acid metabolism 		3 0 1 0.33 0 0
CUI: C1854704
Disease: Metabolic Ketosis
Metabolic Ketosis 		3 0 1 0.33 0 0
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		3 169 1 0.33 2 1.2E-02
CUI: C0342701
Disease: Transcobalamin II deficiency
Transcobalamin II deficiency 		5 0 1 0.20 0 0
CUI: C4049005
Disease: Cataract, total congenital with posterior sutural opacities in Heterozygotes
Cataract, total congenital with posterior sutural opacities in Heterozygotes 		8 0 1 0.12 0 0
CUI: C4025706
Disease: Abnormal globus pallidus morphology
Abnormal globus pallidus morphology 		10 0 1 1.0E-01 0 0
CUI: C0202252
Disease: VITAMIN B12 MEASUREMENT
VITAMIN B12 MEASUREMENT 		13 0 1 7.7E-02 0 0
CUI: C0268559
Disease: Hyperglycinemia
Hyperglycinemia 		14 0 1 7.1E-02 0 0
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		17 0 1 5.9E-02 0 0
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		18 0 1 5.6E-02 0 0
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		18 0 1 5.6E-02 0 0
CUI: C0009946
Disease: Conversion disorder
Conversion disorder 		21 0 1 4.8E-02 0 0
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination 		21 0 1 4.8E-02 0 0
CUI: C0032371
Disease: Poliomyelitis
Poliomyelitis 		23 0 1 4.3E-02 0 0
CUI: C0276096
Disease: Mastitis-metritis-agalactia syndrome
Mastitis-metritis-agalactia syndrome 		23 0 1 4.3E-02 0 0
CUI: C0346210
Disease: Vulval intraepithelial neoplasia
Vulval intraepithelial neoplasia 		29 0 1 3.4E-02 0 0
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		33 0 1 3.0E-02 0 0
CUI: C0262401
Disease: Carcinoma of ampulla of Vater
Carcinoma of ampulla of Vater 		37 0 1 2.7E-02 0 0
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		39 0 1 2.6E-02 0 0
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		41 0 1 2.4E-02 0 0
CUI: C0007867
Disease: Cervix Diseases
Cervix Diseases 		43 0 1 2.3E-02 0 0
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		44 35 1 2.3E-02 1 2.8E-02