Citrullinemia

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