Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated genes and diseases:
gene_symbol: COG7
disease_id: OMIM:608779
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe
gene_symbol: IARS1
disease_id: OMIM:617093
disease_name: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY
gene_symbol: NSMCE2
disease_id: OMIM:617253
disease_name: SECKEL SYNDROME 10
gene_symbol: OCRL
disease_id: OMIM:300555
disease_name: DENT DISEASE 2
gene_symbol: SEMA7A
disease_id: OMIM:619874
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 11
gene_symbol: LYRM4
disease_id: OMIM:615595
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19
gene_symbol: GBA1
disease_id: ORPHA:85212
disease_name: Fetal Gaucher disease
Perinatal lethal Gaucher disease
gene_symbol: MRPL44
disease_id: OMIM:615395
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
gene_symbol: BAAT
disease_id: OMIM:619232
disease_name: BILE ACID CONJUGATION DEFECT 1
gene_symbol: MRPL3
disease_id: OMIM:614582
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9
gene_symbol: UQCRB
disease_id: OMIM:615158
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: OTC
disease_id: OMIM:311250
disease_name: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: PRKCD
disease_id: OMIM:615559
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III
gene_symbol: PEX2
disease_id: OMIM:614866
disease_name: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
gene_symbol: ASL
disease_id: OMIM:207900
disease_name: ARGININOSUCCINIC ACIDURIA
gene_symbol: GALT
disease_id: OMIM:230400
disease_name: GALACTOSEMIA I
gene_symbol: APOB
disease_id: OMIM:615558
disease_name: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1
gene_symbol: HADHB
disease_id: OMIM:620300
disease_name: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2
gene_symbol: CYP7B1
disease_id: OMIM:613812
disease_name: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3
gene_symbol: CYP7B1
disease_id: ORPHA:79302
disease_name: Congenital bile acid synthesis defect type 3
BASD3
Oxysterol 7-alpha-hydroxylase deficiency
gene_symbol: AMACR
disease_id: OMIM:214950
disease_name: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4
gene_symbol: SMPD1
disease_id: OMIM:257200
disease_name: NIEMANN-PICK DISEASE, TYPE A
gene_symbol: SLC51B
disease_id: OMIM:619481
disease_name: BILE ACID MALABSORPTION, PRIMARY, 2
gene_symbol: SLC25A13
disease_id: OMIM:605814
disease_name: CITRULLINEMIA, TYPE II, NEONATAL-ONSET
gene_symbol: UBR1
disease_id: OMIM:243800
disease_name: JOHANSON-BLIZZARD SYNDROME
gene_symbol: VPS50
disease_id: OMIM:619685
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS
gene_symbol: XK
disease_id: OMIM:300842
disease_name: MCLEOD SYNDROME
gene_symbol: SLC2A2
disease_id: OMIM:227810
disease_name: FANCONI-BICKEL SYNDROME
gene_symbol: SLC2A2
disease_id: ORPHA:2088
disease_name: Fanconi-Bickel syndrome
GSD due to GLUT2 deficiency
Glycogen storage disease due to GLUT2 deficiency
Glycogenosis due to GLUT2 deficiency
gene_symbol: SCO1
disease_id: OMIM:619048
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4
gene_symbol: MARS1
disease_id: OMIM:615486
disease_name: INTERSTITIAL LUNG AND LIVER DISEASE
gene_symbol: HMOX1
disease_id: OMIM:614034
disease_name: HEME OXYGENASE 1 DEFICIENCY
gene_symbol: TRMT10C
disease_id: OMIM:616974
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30
gene_symbol: PEPD
disease_id: OMIM:170100
disease_name: PROLIDASE DEFICIENCY
gene_symbol: DNAJC19
disease_id: OMIM:610198
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE V
gene_symbol: SLC37A4
disease_id: OMIM:619525
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw
gene_symbol: ACOX2
disease_id: OMIM:617308
disease_name: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6
gene_symbol: PEX16
disease_id: OMIM:614876
disease_name: PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER)
gene_symbol: WRN
disease_id: OMIM:277700
disease_name: WERNER SYNDROME
gene_symbol: PCK1
disease_id: ORPHA:2880
disease_name: Phosphoenolpyruvate carboxykinase deficiency
PEPCK deficiency
gene_symbol: PCK2
disease_id: ORPHA:2880
disease_name: Phosphoenolpyruvate carboxykinase deficiency
PEPCK deficiency
gene_symbol: PSMB9
disease_id: OMIM:620796
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6
gene_symbol: ATP7B
disease_id: OMIM:277900
disease_name: WILSON DISEASE
gene_symbol: HADHA
disease_id: OMIM:609015
disease_name: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY
gene_symbol: TWNK
disease_id: OMIM:271245
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE)
gene_symbol: FHL1
disease_id: OMIM:300280
disease_name: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
gene_symbol: CPT2
disease_id: OMIM:608836
disease_name: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
gene_symbol: IFT56
disease_id: OMIM:619534
disease_name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
gene_symbol: MRPS2
disease_id: OMIM:617950
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36
gene_symbol: ATP6AP1
disease_id: OMIM:300972
disease_name: IMMUNODEFICIENCY 47
gene_symbol: LARGE1
disease_id: OMIM:613154
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
gene_symbol: APOE
disease_id: OMIM:269600
disease_name: SEA-BLUE HISTIOCYTE DISEASE
gene_symbol: LIPA
disease_id: OMIM:278000
disease_name: LYSOSOMAL ACID LIPASE DEFICIENCY
gene_symbol: POLG2
disease_id: OMIM:618528
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE)
gene_symbol: PIGL
disease_id: OMIM:280000
disease_name: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
gene_symbol: CAV3
disease_id: OMIM:614321
disease_name: MYOPATHY, DISTAL, TATEYAMA TYPE
gene_symbol: AHCY
disease_id: OMIM:613752
disease_name: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
gene_symbol: RRM1
disease_id: OMIM:620647
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6
gene_symbol: CPT1A
disease_id: OMIM:255120
disease_name: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: PGM1
disease_id: OMIM:614921
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It
gene_symbol: USP53
disease_id: OMIM:619658
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS
gene_symbol: PEX14
disease_id: OMIM:614887
disease_name: PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
gene_symbol: NEK8
disease_id: ORPHA:294415
disease_name: Renal-hepatic-pancreatic dysplasia
Ivemark II syndrome
Renohepaticopancreatic dysplasia
gene_symbol: NPHP3
disease_id: ORPHA:294415
disease_name: Renal-hepatic-pancreatic dysplasia
Ivemark II syndrome
Renohepaticopancreatic dysplasia
gene_symbol: VMA12
disease_id: OMIM:616829
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp
gene_symbol: TMEM165
disease_id: OMIM:614727
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk
gene_symbol: MOGS
disease_id: OMIM:606056
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb
gene_symbol: B4GALT1
disease_id: OMIM:620364
disease_name: COMBINED LOW LDL AND FIBRINOGEN
gene_symbol: B4GALT1
disease_id: OMIM:607091
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId
gene_symbol: EARS2
disease_id: OMIM:614924
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
gene_symbol: DPYS
disease_id: OMIM:222748
disease_name: DIHYDROPYRIMIDINASE DEFICIENCY
gene_symbol: HMGCS2
disease_id: OMIM:605911
disease_name: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY
gene_symbol: SUCLG1
disease_id: OMIM:245400
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)
gene_symbol: HMGCL
disease_id: OMIM:246450
disease_name: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY
gene_symbol: LMNA
disease_id: OMIM:151660
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
gene_symbol: COG8
disease_id: OMIM:611182
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
gene_symbol: RRAGC
disease_id: OMIM:620609
disease_name: LONG-OLSEN-DISTELMAIER SYNDROME
gene_symbol: NFS1
disease_id: OMIM:619386
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52
gene_symbol: KIF12
disease_id: OMIM:619662
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8
gene_symbol: DOCK2
disease_id: OMIM:616433
disease_name: IMMUNODEFICIENCY 40
gene_symbol: VPS13A
disease_id: ORPHA:2388
disease_name: Choreoacanthocytosis
ChAc
Chorea-acanthocytosis
Levine-Critchley syndrome
gene_symbol: NR1H4
disease_id: OMIM:617049
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5
gene_symbol: TANGO2
disease_id: OMIM:616878
disease_name: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
gene_symbol: MYO5B
disease_id: OMIM:619868
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10
gene_symbol: STX5
disease_id: OMIM:620454
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa
gene_symbol: HMGCR
disease_id: OMIM:620375
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28
gene_symbol: LYN
disease_id: OMIM:620376
disease_name: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS
gene_symbol: VPS33B
disease_id: OMIM:620010
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 12
gene_symbol: SLC22A5
disease_id: OMIM:212140
disease_name: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
gene_symbol: SC5D
disease_id: OMIM:607330
disease_name: LATHOSTEROLOSIS