TaoMedAI/RareMedData huggingface dataset:
Phenotype: Early satiety (HP:0033842)
Associated genes and diseases:
gene_symbol: JAK2
disease_id: ORPHA:729
disease_name: Polycythemia vera
Acquired primary erythrocytosis
Osler-Vaquez disease
PV
Polycythemia rubra vera
Vaquez disease
gene_symbol: ALG8
disease_id: ORPHA:2924
disease_name: Isolated polycystic liver disease
ADPCLD
Autosomal dominant polycystic liver disease
PCLD
gene_symbol: SEC63
disease_id: ORPHA:2924
disease_name: Isolated polycystic liver disease
ADPCLD
Autosomal dominant polycystic liver disease
PCLD
gene_symbol: PRKCSH
disease_id: ORPHA:2924
disease_name: Isolated polycystic liver disease
ADPCLD
Autosomal dominant polycystic liver disease
PCLD
gene_symbol: LRP5
disease_id: ORPHA:2924
disease_name: Isolated polycystic liver disease
ADPCLD
Autosomal dominant polycystic liver disease
PCLD
gene_symbol: TYMP
disease_id: OMIM:603041
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
gene_symbol: POLG
disease_id: OMIM:603041
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
gene_symbol: STAT3
disease_id: OMIM:147060
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
Phenotype: Coldness (HP:0033850)
Associated genes and diseases:
gene_symbol: NKX2-1
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: PAX8
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: NKX2-5
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: FOXE1
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: TSHR
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: SLC26A4
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: CDKL5
disease_id: ORPHA:505652
disease_name: CDKL5-deficiency disorder
CDD
gene_symbol: MECP2
disease_id: ORPHA:778
disease_name: Rett syndrome
Phenotype: Oculomotor synkinesis (HP:0033851)
Associated genes and diseases:
gene_symbol: ACKR3
disease_id: OMIM:619215
disease_name: OCULOMOTOR-ABDUCENS SYNKINESIS
Phenotype: Abnormal circulating threonine concentration (HP:0010900)
Associated genes and diseases:
gene_symbol: GUCY2D
disease_id: OMIM:204000
disease_name: LEBER CONGENITAL AMAUROSIS 1
gene_symbol: SLC25A13
disease_id: OMIM:605814
disease_name: CITRULLINEMIA, TYPE II, NEONATAL-ONSET
gene_symbol: SLC25A13
disease_id: ORPHA:247598
disease_name: Neonatal intrahepatic cholestasis due to citrin deficiency
NICCD
Neonatal intrahepatic cholestasis caused by citrin deficiency
gene_symbol: PNPO
disease_id: ORPHA:79096
disease_name: Pyridoxal phosphate-responsive seizures
PNPO deficiency
PNPO-related neonatal epileptic encephalopathy
Pyridoxal phosphate-dependent seizures
Pyridoxamine 5'-oxidase deficiency
Pyridoxamine 5'-phosphate oxidase deficiency
Phenotype: Abnormal circulating methionine concentration (HP:0010901)
Associated genes and diseases:
gene_symbol: SLC25A13
disease_id: OMIM:605814
disease_name: CITRULLINEMIA, TYPE II, NEONATAL-ONSET
gene_symbol: SLC25A13
disease_id: ORPHA:247598
disease_name: Neonatal intrahepatic cholestasis due to citrin deficiency
NICCD
Neonatal intrahepatic cholestasis caused by citrin deficiency
gene_symbol: ADK
disease_id: OMIM:614300
disease_name: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
gene_symbol: CBS
disease_id: OMIM:236200
disease_name: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
gene_symbol: MAT1A
disease_id: OMIM:250850
disease_name: METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY
gene_symbol: FAH
disease_id: OMIM:276700
disease_name: TYROSINEMIA, TYPE I
gene_symbol: GNMT
disease_id: OMIM:606664
disease_name: GLYCINE N-METHYLTRANSFERASE DEFICIENCY
gene_symbol: SKIC3
disease_id: OMIM:222470
disease_name: TRICHOHEPATOENTERIC SYNDROME 1
gene_symbol: TFAM
disease_id: OMIM:617156
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE)
gene_symbol: MTRR
disease_id: OMIM:236270
disease_name: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE
gene_symbol: MTRR
disease_id: ORPHA:2169
disease_name: Methylcobalamin deficiency type cblE
Functional methionine synthase deficiency type cblE
gene_symbol: MMACHC
disease_id: ORPHA:79282
disease_name: Methylmalonic acidemia with homocystinuria, type cblC
CblC defect
Cobalamin C defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
Methylmalonic aciduria with homocystinuria, type cblC
gene_symbol: MMACHC
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: LMBRD1
disease_id: ORPHA:79284
disease_name: Methylmalonic acidemia with homocystinuria type cblF
CblF defect
Cobalamin F defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF
Lysosomal membrane cobalamin transporter deficiency
Methylmalonic aciduria with homocystinuria, type cblF
gene_symbol: MTHFR
disease_id: ORPHA:395
disease_name: Homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR deficiency
Methylene tetrahydrofolate reductase deficiency
gene_symbol: ABCD4
disease_id: OMIM:614857
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
gene_symbol: MTR
disease_id: OMIM:250940
disease_name: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE
gene_symbol: MMADHC
disease_id: OMIM:277410
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE
gene_symbol: PRDX1
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: AHCY
disease_id: ORPHA:88618
disease_name: S-adenosylhomocysteine hydrolase deficiency
Phenotype: Abnormal circulating glutamine concentration (HP:0010903)
Associated genes and diseases:
gene_symbol: ASL
disease_id: ORPHA:23
disease_name: Argininosuccinic aciduria
ASA deficiency
ASL deficiency
Argininosuccinase deficiency
Argininosuccinatelyase deficiency
Argininosuccinic acid lyase deficiency
gene_symbol: ASL
disease_id: OMIM:207900
disease_name: ARGININOSUCCINIC ACIDURIA
gene_symbol: CA5A
disease_id: OMIM:615751
disease_name: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: OTC
disease_id: OMIM:311250
disease_name: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: NAGS
disease_id: ORPHA:927
disease_name: Hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS deficiency
gene_symbol: NAGS
disease_id: OMIM:237310
disease_name: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
gene_symbol: SLC7A7
disease_id: ORPHA:470
disease_name: Lysinuric protein intolerance
Hyperdibasic aminoaciduria
LPI
gene_symbol: ASS1
disease_id: OMIM:215700
disease_name: CITRULLINEMIA, CLASSIC
gene_symbol: COX16
disease_id: OMIM:619355
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22
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: GLS
disease_id: OMIM:618412
disease_name: GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE
gene_symbol: LIPT1
disease_id: OMIM:616299
disease_name: LIPOYLTRANSFERASE 1 DEFICIENCY
gene_symbol: TALDO1
disease_id: ORPHA:101028
disease_name: Transaldolase deficiency
TALDO deficiency
gene_symbol: SLC25A13
disease_id: ORPHA:247598
disease_name: Neonatal intrahepatic cholestasis due to citrin deficiency
NICCD
Neonatal intrahepatic cholestasis caused by citrin deficiency
gene_symbol: GLUL
disease_id: OMIM:610015
disease_name: GLUTAMINE DEFICIENCY, CONGENITAL
gene_symbol: GLUL
disease_id: OMIM:620806
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116
Phenotype: Abnormal circulating histidine concentration (HP:0010904)
Associated genes and diseases:
gene_symbol: PNPO
disease_id: ORPHA:79096
disease_name: Pyridoxal phosphate-responsive seizures
PNPO deficiency
PNPO-related neonatal epileptic encephalopathy
Pyridoxal phosphate-dependent seizures
Pyridoxamine 5'-oxidase deficiency
Pyridoxamine 5'-phosphate oxidase deficiency
gene_symbol: FTCD
disease_id: ORPHA:51208
disease_name: Formiminoglutamic aciduria
FTCD deficiency
Formiminotransferase cyclodeaminase deficiency
Glutamate formiminotransferase deficiency
gene_symbol: UROC1
disease_id: ORPHA:210128
disease_name: Urocanic aciduria
Encephalopathy due to urocanase deficiency
gene_symbol: HAL
disease_id: OMIM:235800
disease_name: HISTIDINEMIA
gene_symbol: HAL
disease_id: ORPHA:2157
disease_name: Histidinemia
HAL deficiency
HIS deficiency
Histidase deficiency
Histidine ammonia-lyase deficiency
Histidinuria
Hyperhistidinemia
Phenotype: Hyperhistidinemia (HP:0010906)
Associated genes and diseases:
gene_symbol: HAL
disease_id: OMIM:235800
disease_name: HISTIDINEMIA
gene_symbol: HAL
disease_id: ORPHA:2157
disease_name: Histidinemia
HAL deficiency
HIS deficiency
Histidase deficiency
Histidine ammonia-lyase deficiency
Histidinuria
Hyperhistidinemia
Phenotype: Abnormal circulating proline concentration (HP:0010907)
Associated genes and diseases:
gene_symbol: TNFRSF11B
disease_id: OMIM:239000
disease_name: PAGET DISEASE OF BONE 5, JUVENILE-ONSET
gene_symbol: SLC6A18
disease_id: ORPHA:42062
disease_name: Iminoglycinuria
gene_symbol: SLC36A2
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: COX5A
disease_id: OMIM:619064
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20
gene_symbol: SLC7A7
disease_id: ORPHA:470
disease_name: Lysinuric protein intolerance
Hyperdibasic aminoaciduria
LPI
gene_symbol: PRODH
disease_id: OMIM:600850
disease_name: SCHIZOPHRENIA 4
gene_symbol: PRODH
disease_id: OMIM:239500
disease_name: HYPERPROLINEMIA, TYPE I
gene_symbol: PRODH
disease_id: ORPHA:419
disease_name: Hyperprolinemia type 1
Proline oxidase deficiency
gene_symbol: NDUFC2
disease_id: OMIM:619170
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36
gene_symbol: NDUFB10
disease_id: OMIM:619003
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35
gene_symbol: COX16
disease_id: OMIM:619355
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22
gene_symbol: LIPT1
disease_id: OMIM:616299
disease_name: LIPOYLTRANSFERASE 1 DEFICIENCY
gene_symbol: COX10
disease_id: OMIM:619046
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: CA5A
disease_id: OMIM:615751
disease_name: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: ATP5F1A
disease_id: OMIM:620358
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A
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: PDP1
disease_id: ORPHA:79246
disease_name: Pyruvate dehydrogenase phosphatase deficiency
PDH phosphatase deficiency
gene_symbol: TEFM
disease_id: OMIM:620451
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58
gene_symbol: TARS2
disease_id: OMIM:615918
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21
gene_symbol: ALDH18A1
disease_id: OMIM:219150
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA
Phenotype: Abnormal circulating lysine concentration (HP:0010908)
Associated genes and diseases:
gene_symbol: AASS
disease_id: ORPHA:2203
disease_name: Hyperlysinemia
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
gene_symbol: AASS
disease_id: OMIM:238700
disease_name: HYPERLYSINEMIA, TYPE I
gene_symbol: AASS
disease_id: ORPHA:3124
disease_name: Saccharopinuria
Hyperlysinemia type II
Saccharopine dehydrogenase deficiency
gene_symbol: NADK2
disease_id: ORPHA:431361
disease_name: Progressive encephalopathy with leukodystrophy due to DECR deficiency
2,4-dienoyl-CoA reductase deficiency
DECR deficiency with hyperlysinemia
gene_symbol: NADK2
disease_id: OMIM:616034
disease_name: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY
gene_symbol: SLC25A13
disease_id: OMIM:605814
disease_name: CITRULLINEMIA, TYPE II, NEONATAL-ONSET
gene_symbol: SLC25A13
disease_id: ORPHA:247598
disease_name: Neonatal intrahepatic cholestasis due to citrin deficiency
NICCD
Neonatal intrahepatic cholestasis caused by citrin deficiency
gene_symbol: MICU1
disease_id: OMIM:615673
disease_name: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS
gene_symbol: SLC7A7
disease_id: OMIM:222700
disease_name: LYSINURIC PROTEIN INTOLERANCE
Phenotype: Abnormal circulating arginine concentration (HP:0010909)
Associated genes and diseases:
gene_symbol: ASL
disease_id: ORPHA:23
disease_name: Argininosuccinic aciduria
ASA deficiency
ASL deficiency
Argininosuccinase deficiency
Argininosuccinatelyase deficiency
Argininosuccinic acid lyase deficiency
gene_symbol: ASL
disease_id: OMIM:207900
disease_name: ARGININOSUCCINIC ACIDURIA
gene_symbol: CPS1
disease_id: ORPHA:147
disease_name: Carbamoyl-phosphate synthetase 1 deficiency
CPS1 deficiency
CPS1D
Carbamoyl-phosphate synthetase I deficiency
Carbamoyl-phosphate synthetase deficiency
gene_symbol: CPS1
disease_id: OMIM:237300
disease_name: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: CA5A
disease_id: OMIM:615751
disease_name: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: OTC
disease_id: ORPHA:664
disease_name: Ornithine transcarbamylase deficiency
OCT deficiency
OTC deficiency
Ornithine carbamoyltransferase deficiency
gene_symbol: ASS1
disease_id: OMIM:215700
disease_name: CITRULLINEMIA, CLASSIC
gene_symbol: ATP5F1A
disease_id: OMIM:620358
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A
gene_symbol: ALDH18A1
disease_id: OMIM:219150
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA
gene_symbol: PNPO
disease_id: ORPHA:79096
disease_name: Pyridoxal phosphate-responsive seizures
PNPO deficiency
PNPO-related neonatal epileptic encephalopathy
Pyridoxal phosphate-dependent seizures
Pyridoxamine 5'-oxidase deficiency
Pyridoxamine 5'-phosphate oxidase deficiency
gene_symbol: SLC25A13
disease_id: ORPHA:247598
disease_name: Neonatal intrahepatic cholestasis due to citrin deficiency
NICCD
Neonatal intrahepatic cholestasis caused by citrin deficiency
gene_symbol: ARG1
disease_id: OMIM:207800
disease_name: ARGININEMIA
Phenotype: Abnormal peritubular capillary morphology (HP:0033859)
Associated genes and diseases:
gene_symbol: WDR19
disease_id: OMIM:614377
disease_name: NEPHRONOPHTHISIS 13
Phenotype: Abnormal visual field test (HP:0030588)
Associated genes and diseases:
gene_symbol: CDH23
disease_id: ORPHA:91347
disease_name: TSH-secreting pituitary adenoma
Pituitary thyrotrophic adenoma
TSH-oma
Thyroid stimulating hormone-secreting pituitary adenoma
Thyrotroph adenoma
gene_symbol: KIF21A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBB2B
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBA1A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: PHOX2A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBB3
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: COL25A1
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: MT-ATP6
disease_id: ORPHA:644
disease_name: NARP syndrome
Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome
Neuropathy-ataxia-retinitis pigmentosa syndrome
gene_symbol: CTNNB1
disease_id: ORPHA:54595
disease_name: Craniopharyngioma
gene_symbol: BRAF
disease_id: ORPHA:54595
disease_name: Craniopharyngioma
gene_symbol: BAP1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: NF2
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCB1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: PDGFB
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TRAF7
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMO
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: AKT1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: PIK3CA
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TERT
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SUFU
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCE1
disease_id: ORPHA:2495
disease_name: Meningioma
Phenotype: Abnormal Ishihara plate test (HP:0030586)
Associated genes and diseases:
gene_symbol: AFG3L2
disease_id: OMIM:618977
disease_name: OPTIC ATROPHY 12
Phenotype: Color vision test abnormality (HP:0030584)
Associated genes and diseases:
gene_symbol: ATF6
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: PDE6C
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: RPGR
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: PDE6H
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: GNAT2
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: CNGA3
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: CNGB3
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: OPN1SW
disease_id: ORPHA:88629
disease_name: Tritanopia
Blue colour blindness
Congenital tritanopia
Tritan colour blindness
gene_symbol: FA2H
disease_id: ORPHA:329308
disease_name: Fatty acid hydroxylase-associated neurodegeneration
FAHN
gene_symbol: AFG3L2
disease_id: OMIM:618977
disease_name: OPTIC ATROPHY 12
Phenotype: Hypervalinemia (HP:0010910)
Associated genes and diseases:
gene_symbol: BCKDHB
disease_id: OMIM:620698
disease_name: MAPLE SYRUP URINE DISEASE, TYPE IB
gene_symbol: BCAT2
disease_id: OMIM:618850
disease_name: HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA
gene_symbol: MICU1
disease_id: OMIM:615673
disease_name: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS
gene_symbol: ATP5F1B
disease_id: OMIM:620085
disease_name: HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2
Phenotype: Hyperleucinemia (HP:0010911)
Associated genes and diseases:
gene_symbol: PPM1K
disease_id: OMIM:615135
disease_name: MAPLE SYRUP URINE DISEASE, MILD VARIANT
gene_symbol: BCKDHB
disease_id: OMIM:620698
disease_name: MAPLE SYRUP URINE DISEASE, TYPE IB
gene_symbol: BCAT2
disease_id: OMIM:618850
disease_name: HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA
gene_symbol: MCCC2
disease_id: OMIM:210210
disease_name: 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
gene_symbol: ATP5F1B
disease_id: OMIM:620085
disease_name: HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2
Phenotype: Abnormal circulating isoleucine concentration (HP:0010912)
Associated genes and diseases:
gene_symbol: PPM1K
disease_id: OMIM:615135
disease_name: MAPLE SYRUP URINE DISEASE, MILD VARIANT
gene_symbol: BCKDHB
disease_id: OMIM:620698
disease_name: MAPLE SYRUP URINE DISEASE, TYPE IB
gene_symbol: DLD
disease_id: ORPHA:2394
disease_name: Pyruvate dehydrogenase E3 deficiency
DLD deficiency
Dihydrolipoamide dehydrogenase deficiency
E3-deficient maple syrup urine disease
gene_symbol: BCAT2
disease_id: OMIM:618850
disease_name: HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA
gene_symbol: ATP5F1B
disease_id: OMIM:620085
disease_name: HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2
gene_symbol: BCKDK
disease_id: OMIM:614923
disease_name: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
Phenotype: Hyperisoleucinemia (HP:0010913)
Associated genes and diseases:
gene_symbol: PPM1K
disease_id: OMIM:615135
disease_name: MAPLE SYRUP URINE DISEASE, MILD VARIANT
gene_symbol: BCKDHB
disease_id: OMIM:620698
disease_name: MAPLE SYRUP URINE DISEASE, TYPE IB
gene_symbol: DLD
disease_id: ORPHA:2394
disease_name: Pyruvate dehydrogenase E3 deficiency
DLD deficiency
Dihydrolipoamide dehydrogenase deficiency
E3-deficient maple syrup urine disease
gene_symbol: BCAT2
disease_id: OMIM:618850
disease_name: HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA
gene_symbol: ATP5F1B
disease_id: OMIM:620085
disease_name: HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2
Phenotype: Abnormal circulating valine concentration (HP:0010914)
Associated genes and diseases:
gene_symbol: BCKDHB
disease_id: OMIM:620698
disease_name: MAPLE SYRUP URINE DISEASE, TYPE IB
gene_symbol: BCAT2
disease_id: OMIM:618850
disease_name: HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA
gene_symbol: MICU1
disease_id: OMIM:615673
disease_name: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS
gene_symbol: ATP5F1B
disease_id: OMIM:620085
disease_name: HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2
gene_symbol: BCKDK
disease_id: OMIM:614923
disease_name: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
Phenotype: Abnormal circulating tyrosine concentration (HP:0010917)
Associated genes and diseases:
gene_symbol: SLC25A13
disease_id: OMIM:605814
disease_name: CITRULLINEMIA, TYPE II, NEONATAL-ONSET
gene_symbol: SLC25A13
disease_id: ORPHA:247598
disease_name: Neonatal intrahepatic cholestasis due to citrin deficiency
NICCD
Neonatal intrahepatic cholestasis caused by citrin deficiency
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: TAT
disease_id: OMIM:276600
disease_name: TYROSINEMIA, TYPE II
gene_symbol: FAH
disease_id: OMIM:276700
disease_name: TYROSINEMIA, TYPE I
gene_symbol: BCS1L
disease_id: OMIM:124000
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: TFAM
disease_id: OMIM:617156
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE)
gene_symbol: PNPO
disease_id: ORPHA:79096
disease_name: Pyridoxal phosphate-responsive seizures
PNPO deficiency
PNPO-related neonatal epileptic encephalopathy
Pyridoxal phosphate-dependent seizures
Pyridoxamine 5'-oxidase deficiency
Pyridoxamine 5'-phosphate oxidase deficiency
gene_symbol: HPD
disease_id: ORPHA:2118
disease_name: Hawkinsinuria
4-HPPD deficiency
4-alpha-hydroxyphenylpyruvate hydroxylase deficiency
4-hydroxyphenylpyruvic acid dioxygenase deficiency
Phenotype: Abnormal circulating cysteine concentration (HP:0010918)
Associated genes and diseases:
gene_symbol: AASS
disease_id: ORPHA:3124
disease_name: Saccharopinuria
Hyperlysinemia type II
Saccharopine dehydrogenase deficiency
gene_symbol: NFE2L2
disease_id: OMIM:617744
disease_name: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
gene_symbol: GPHN
disease_id: OMIM:615501
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C
Phenotype: Abnormal medullary peritubular capillary morphology (HP:0033864)
Associated genes and diseases:
gene_symbol: WDR19
disease_id: OMIM:614377
disease_name: NEPHRONOPHTHISIS 13
Phenotype: Multilamellation of medullary peritubular capillary basement membranes (HP:0033867)
Associated genes and diseases:
gene_symbol: WDR19
disease_id: OMIM:614377
disease_name: NEPHRONOPHTHISIS 13