Disease Term Disease ID Gene Symbol References
Acute neonatal citrullinemia type I 247546 ASS1
Adult-onset citrullinemia type 2 C1863844 SLC25A13 24161253, 17880783, 16449956, 21507300, 10369257, 21134364, 21424115, 11281457, 15050970, 19470249, 12424587, 19036621, 24586645, 18392553, 14680984, 27604308
Adult-onset citrullinemia type I 247573 ASS1
Argininosuccinic Acid Synthetase Deficiency, Complete C0751751 ASS1 28111830, 16475226, 10097149, 6763345, 23246278, 11083500, 19006241, 8197477, 2246255
Citrullinemia C0175683 ASS1 2246255, 10097149, 28111830, 6763345, 23246278, 19006241, 27604308, 16475226, 8197477, 11083500
AASS
Citrullinemia Type 1 C4721769 ASS1 22106832, 26206375, 23246278, 24889030, 18925679, 11941481, 22473243, 8792870, 19006241, 15266621, 8197477, 7977368, 23099195, 24765495, 16475226, 2246255, 28111830, 23611581, 11083500, 12815590, 14680976, 27287393, 15863597, 26117549, 22768672, 9090528, 6763345, 24508627, 21227727, 25433810, 23094117, 15334737, 11571557, 7557970, 16124451, 25537548, 1943692, 2358466, 10097149, 25047749, 25179242, 11708871, 10987146, 23780642, 22494545, 23430935, 20005624, 19358837, 21483992, 18473344, 11738042, 21244552, 24713661
Citrullinemia type II 247585 SLC25A13
CITRULLINEMIA, TYPE II, NEONATAL-ONSET C1853942 SLC25A13 27604308, 11793471, 12424587, 21507300, 24327139