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: C2717876
Disease: Propionicaciduria
Propionicaciduria 		2 0 2 0.17 0 0
CUI: C0026755
Disease: Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency 		3 0 2 0.15 0 0
CUI: C1396126
Disease: Perioral eczema
Perioral eczema 		3 0 2 0.15 0 0
CUI: C0268581
Disease: Holocarboxylase Synthetase Deficiency
Holocarboxylase Synthetase Deficiency 		4 0 2 0.14 0 0
CUI: C0268680
Disease: Biotin deficiency
Biotin deficiency 		4 0 2 0.14 0 0
CUI: C2937225
Disease: Biotin deficiency disease
Biotin deficiency disease 		4 0 2 0.14 0 0
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency 		5 0 2 0.13 0 0
CUI: C1859506
Disease: Acute hyperammonemia
Acute hyperammonemia 		5 0 2 0.13 0 0
CUI: C4551505
Disease: Methylcrotonyl-CoA carboxylase deficiency
Methylcrotonyl-CoA carboxylase deficiency 		5 0 2 0.13 0 0
CUI: C0543541
Disease: HYPERGLYCINURIA (disorder)
HYPERGLYCINURIA (disorder) 		14 0 3 0.13 0 0
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		6 0 2 0.12 0 0
CUI: C3151140
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D 		7 0 2 0.12 0 0
CUI: C4551676
Disease: Laryngismus stridulus
Laryngismus stridulus 		7 1 2 0.12 1 1.00
CUI: C4703632
Disease: Increased level of hippuric acid in urine
Increased level of hippuric acid in urine 		7 0 2 0.12 0 0
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		17 0 3 0.12 0 0
CUI: C1820737
Disease: Temperature instability
Temperature instability 		12 8 2 9.1E-02 1 0.12
CUI: C0268559
Disease: Hyperglycinemia
Hyperglycinemia 		14 0 2 8.3E-02 0 0
CUI: C0455938
Disease: Large adenoids
Large adenoids 		1 0 1 8.3E-02 0 0
CUI: C1389901
Disease: Biotin-dependent carboxylase deficiency, unspecified
Biotin-dependent carboxylase deficiency, unspecified 		1 0 1 8.3E-02 0 0
CUI: C1842714
Disease: Desquamation of skin soon after birth
Desquamation of skin soon after birth 		14 0 2 8.3E-02 0 0
CUI: C1846648
Disease: MICROCEPHALY, AMISH TYPE (disorder)
MICROCEPHALY, AMISH TYPE (disorder) 		1 0 1 8.3E-02 0 0
CUI: C1850309
Disease: Mildly elevated creatine phosphokinase
Mildly elevated creatine phosphokinase 		1 1 1 8.3E-02 1 1.00
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		1 0 1 8.3E-02 0 0
CUI: C3150973
Disease: Progressive polyneuropathy with bilateral striatal necrosis
Progressive polyneuropathy with bilateral striatal necrosis 		1 0 1 8.3E-02 0 0
CUI: C3553607
Disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY 		1 0 1 8.3E-02 0 0