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: C2198591
Disease: 2-methylbutyrylglycinuria
2-methylbutyrylglycinuria 		1 0 1 1.00 0 0
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency 		3 0 1 0.33 0 0
CUI: C2751532
Disease: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		5 0 1 0.20 0 0
CUI: C3807980
Disease: Apneic episodes in infancy
Apneic episodes in infancy 		6 0 1 0.17 0 0
CUI: C3281160
Disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 		7 0 1 0.14 0 0
CUI: C0406740
Disease: Kohlschutter Tonz syndrome
Kohlschutter Tonz syndrome 		8 0 1 0.12 0 0
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		8 0 1 0.12 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 1 5.0E-02 0 0
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		21 0 1 4.8E-02 0 0
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		30 0 1 3.3E-02 0 0
CUI: C0020672
Disease: Hypothermia, natural
Hypothermia, natural 		52 0 1 1.9E-02 0 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		56 0 1 1.8E-02 0 0
CUI: C0015310
Disease: Exotropia
Exotropia 		78 0 1 1.3E-02 0 0
CUI: C0282313
Disease: Condition, Preneoplastic
Condition, Preneoplastic 		122 0 1 8.2E-03 0 0
CUI: C0023380
Disease: Lethargy
Lethargy 		160 0 1 6.3E-03 0 0
CUI: C1854301
Disease: Motor delay
Motor delay 		384 0 1 2.6E-03 0 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		393 0 1 2.5E-03 0 0
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		420 0 1 2.4E-03 0 0
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		445 0 1 2.2E-03 0 0
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		472 0 1 2.1E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 1 1.0E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 1 1.0E-03 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		1064 0 1 9.4E-04 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		1112 0 1 9.0E-04 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 1 5.5E-04 0 0