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: C0175683
Disease: Citrullinemia
Citrullinemia 		7 2 4 0.50 2 2.4E-02
CUI: C0233558
Disease: Temper tantrum
Temper tantrum 		1 0 1 0.20 0 0
CUI: C0262525
Disease: Incomplete right bundle branch block
Incomplete right bundle branch block 		1 0 1 0.20 0 0
CUI: C0268457
Disease: Aminoacidemia
Aminoacidemia 		1 0 1 0.20 0 0
CUI: C0270217
Disease: Perinatal jaundice due to inspissated bile syndrome
Perinatal jaundice due to inspissated bile syndrome 		1 0 1 0.20 0 0
CUI: C0345203
Disease: Congenital atresia of large intestine
Congenital atresia of large intestine 		1 0 1 0.20 0 0
CUI: C0546965
Disease: Parachute malformation of mitral valve
Parachute malformation of mitral valve 		1 0 1 0.20 0 0
CUI: C0751750
Disease: Argininosuccinic Acid Synthetase Deficiency Disease, Partial
Argininosuccinic Acid Synthetase Deficiency Disease, Partial 		1 0 1 0.20 0 0
CUI: C0751751
Disease: Argininosuccinic Acid Synthetase Deficiency, Complete
Argininosuccinic Acid Synthetase Deficiency, Complete 		1 1 1 0.20 1 1.2E-02
CUI: C4016834
Disease: CITRULLINEMIA, MILD
CITRULLINEMIA, MILD 		1 2 1 0.20 2 2.4E-02
CUI: C4310689
Disease: SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES 		1 0 1 0.20 0 0
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		9 0 2 0.17 0 0
CUI: C1848861
Disease: Hyperthreoninemia
Hyperthreoninemia 		2 0 1 0.17 0 0
CUI: C4023102
Disease: Elevated plasma citrulline
Elevated plasma citrulline 		2 0 1 0.17 0 0
CUI: C0231255
Disease: Decreased body mass index
Decreased body mass index 		3 0 1 0.14 0 0
CUI: C0338986
Disease: Atypical autism
Atypical autism 		3 0 1 0.14 0 0
CUI: C2673558
Disease: Increased urinary glycerol
Increased urinary glycerol 		3 0 1 0.14 0 0
CUI: C4476869
Disease: Elevated gamma-glutamyltransferase activity
Elevated gamma-glutamyltransferase activity 		3 0 1 0.14 0 0
CUI: C1405458
Disease: Language Problems
Language Problems 		4 0 1 0.12 0 0
CUI: C1839541
Disease: Episodic ammonia intoxication
Episodic ammonia intoxication 		4 0 1 0.12 0 0
CUI: C4023071
Disease: Hypergalactosemia
Hypergalactosemia 		4 0 1 0.12 0 0
CUI: C4025095
Disease: Hypoargininemia
Hypoargininemia 		4 0 1 0.12 0 0
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		14 0 2 0.12 0 0
CUI: C0268553
Disease: Hyperlysinemias
Hyperlysinemias 		5 0 1 0.11 0 0
CUI: C0393615
Disease: Familial Tremor
Familial Tremor 		5 0 1 0.11 0 0