Phenotype: Increased urinary non-proteinogenic amino acid level (HP:0033098)
Associated genes and diseases:
gene_symbol: TNFRSF11B
disease_id: OMIM:239000
disease_name: PAGET DISEASE OF BONE 5, JUVENILE-ONSET
gene_symbol: TNFRSF11A
disease_id: OMIM:602080
disease_name: PAGET DISEASE OF BONE 2, EARLY-ONSET
gene_symbol: TNFRSF11A
disease_id: OMIM:174810
disease_name: FAMILIAL EXPANSILE OSTEOLYSIS
gene_symbol: SLC36A2
disease_id: OMIM:242600
disease_name: IMINOGLYCINURIA
gene_symbol: SLC36A2
disease_id: ORPHA:42062
disease_name: Iminoglycinuria
gene_symbol: PRODH
disease_id: OMIM:239500
disease_name: HYPERPROLINEMIA, TYPE I
gene_symbol: PTH1R
disease_id: ORPHA:33067
disease_name: Metaphyseal chondrodysplasia, Jansen type
gene_symbol: SLC6A18
disease_id: ORPHA:42062
disease_name: Iminoglycinuria
gene_symbol: SLC6A20
disease_id: ORPHA:42062
disease_name: Iminoglycinuria
gene_symbol: SLC6A19
disease_id: ORPHA:42062
disease_name: Iminoglycinuria
gene_symbol: ALDH4A1
disease_id: ORPHA:79101
disease_name: Hyperprolinemia type 2
Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
gene_symbol: ALDH4A1
disease_id: OMIM:239510
disease_name: HYPERPROLINEMIA, TYPE II
gene_symbol: PLOD2
disease_id: OMIM:609220
disease_name: BRUCK SYNDROME 2
gene_symbol: CTH
disease_id: OMIM:219500
disease_name: CYSTATHIONINURIA
gene_symbol: CTH
disease_id: ORPHA:212
disease_name: Cystathioninuria
Cystathionase deficiency
Cystathionine gamma-lyase deficiency syndrome
Gamma-cystathionase deficiency
gene_symbol: LMBRD1
disease_id: OMIM:277380
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE
gene_symbol: PRDX1
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: MMACHC
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: SLC3A1
disease_id: OMIM:220100
disease_name: CYSTINURIA
gene_symbol: SLC7A9
disease_id: OMIM:220100
disease_name: CYSTINURIA
gene_symbol: SLC7A7
disease_id: ORPHA:470
disease_name: Lysinuric protein intolerance
Hyperdibasic aminoaciduria
LPI
gene_symbol: AASS
disease_id: OMIM:238700
disease_name: HYPERLYSINEMIA, TYPE I
gene_symbol: ALDH6A1
disease_id: OMIM:614105
disease_name: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
gene_symbol: DMGDH
disease_id: OMIM:605850
disease_name: DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY
gene_symbol: AGXT2
disease_id: OMIM:210100
disease_name: BETA-AMINOISOBUTYRIC ACIDURIA
gene_symbol: IBA57
disease_id: OMIM:615330
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
gene_symbol: SLC25A15
disease_id: OMIM:238970
disease_name: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
gene_symbol: GGT1
disease_id: OMIM:231950
disease_name: GLUTATHIONURIA
gene_symbol: ASPA
disease_id: OMIM:271900
disease_name: CANAVAN DISEASE
gene_symbol: ASPA
disease_id: ORPHA:314911
disease_name: Severe Canavan disease
Infantile Canavan disease
Neonatal Canavan disease
gene_symbol: SLC13A3
disease_id: OMIM:618384
disease_name: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE
gene_symbol: MOCS1
disease_id: OMIM:252150
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A
gene_symbol: DHTKD1
disease_id: OMIM:204750
disease_name: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
gene_symbol: NFU1
disease_id: OMIM:605711
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
gene_symbol: LETM1
disease_id: OMIM:620089
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION
gene_symbol: ABAT
disease_id: ORPHA:2066
disease_name: Gamma-aminobutyric acid transaminase deficiency
GABA transaminase deficiency
gene_symbol: ALDH5A1
disease_id: OMIM:271980
disease_name: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
gene_symbol: PAH
disease_id: OMIM:261600
disease_name: PHENYLKETONURIA
gene_symbol: PHYKPL
disease_id: OMIM:615011
disease_name: PHOSPHOHYDROXYLYSINURIA
gene_symbol: GCLC
disease_id: OMIM:230450
disease_name: GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO