PIREPRED

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Gene name: ABCD4
Proein name: Lysosomal cobalamin transporter ABCD4
Disease: Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) , Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ)
ABCD4Lysosomal cobalamin transporter ABCD4Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) ACADMMedium-chain specific acyl-CoA dehydrogenase, mitochondrialAcyl-CoA dehydrogenase medium-chain deficiency (ACADMD) ACADSShort-chain specific acyl-CoA dehydrogenase, mitochondrialAcyl-CoA dehydrogenase short-chain deficiency (ACADSD) ACADSBShort/branched chain specific acyl-CoA dehydrogenase, mitochondrialShort/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) ACADVLVery long-chain specific acyl-CoA dehydrogenase, mitochondrialAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) ACAT1Acetyl-CoA acetyltransferase, mitochondrial3-ketothiolase deficiency (3KTD) ACSF3Malonate--CoA ligase ACSF3, mitochondrialCombined malonic and methylmalonic aciduria (CMAMMA) ARG1Arginase-1Argininemia (ARGIN) ASLArgininosuccinate lyaseArgininosuccinic aciduria (ARGINSA) ASS1Argininosuccinate synthaseCitrullinemia 1 (CTLN1) BCKDHA2-oxoisovalerate dehydrogenase subunit alpha, mitochondrialMaple syrup urine disease 1A (MSUD1A) BCKDHB2-oxoisovalerate dehydrogenase subunit beta, mitochondrialMaple syrup urine disease 1B (MSUD1B) BTDBiotinidaseBiotinidase deficiency (BTD deficiency) CBSCystathionine beta-synthaseCystathionine beta-synthase deficiency (CBSD) CFTRCystic fibrosis transmembrane conductance regulatorCystic fibrosis (CF) CPT1ACarnitine O-palmitoyltransferase 1, liver isoformCarnitine palmitoyltransferase 1A deficiency (CPT1AD) CPT1BCarnitine O-palmitoyltransferase 1, muscle isoformCarnitine palmitoyltransferase 1B deficiency CPT1CCarnitine O-palmitoyltransferase 1, brain isoformSpastic paraplegia 73, autosomal dominant (SPG73) CPT2Carnitine O-palmitoyltransferase 2, mitochondrialCarnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced (CPT2D) CYP11B1Cytochrome P450 11B1, mitochondrialAdrenal hyperplasia 4 (AH4) CYP17A1Steroid 17-alpha-hydroxylase/17,20 lyaseAdrenal hyperplasia 5 (AH5) CYP21A2Steroid 21-hydroxylaseAdrenal hyperplasia 3 (AH3) DBTLipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrialMaple syrup urine disease 2 (MSUD2) ETFAElectron transfer flavoprotein subunit alpha, mitochondrialGlutaric aciduria 2A (GA2A) ETFBElectron transfer flavoprotein subunit betaGlutaric aciduria 2B (GA2B) ETFDHElectron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrialGlutaric aciduria 2C (GA2C) FAHFumarylacetoacetaseTyrosinemia 1 (TYRSN1) FCGR2ALow affinity immunoglobulin gamma Fc region receptor II-aLupus nephritis, susceptibility to GALTGalactose-1-phosphate uridylyltransferaseGalactosemia (GALCT) GCDHGlutaryl-CoA dehydrogenase, mitochondrialGlutaric aciduria 1 (GA1) HADHATrifunctional enzyme subunit alpha, mitochondrialMitochondrial trifunctional protein deficiency (MTPD), Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency), Maternal acute fatty liver of pregnancy (AFLP) HADHBTrifunctional enzyme subunit beta, mitochondrialMitochondrial trifunctional protein deficiency (MTPD) HBBHemoglobin subunit betaHeinz body anemias (HEIBAN), Beta-thalassemia (B-THAL), Sickle cell anemia (SKCA), Beta-thalassemia, dominant, inclusion body type (B-THALIB) HCFC1Host cell factor 1Mental retardation, X-linked 3 (MRX3) HMGCLHydroxymethylglutaryl-CoA lyase, mitochondrial3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) HPD4-hydroxyphenylpyruvate dioxygenaseTyrosinemia 3 (TYRSN3) HSD3B23 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2Adrenal hyperplasia 2 (AH2) IVDIsovaleryl-CoA dehydrogenase, mitochondrialIsovaleric acidemia (IVA) LMBRD1Lysosomal cobalamin transport escort protein LMBD1Methylmalonic aciduria and homocystinuria, cblF type (MAHCF) MCCC1Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) MCCC2Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) MLYCDMalonyl-CoA decarboxylase, mitochondrialMalonyl-CoA decarboxylase deficiency (MLYCD deficiency) MMAAMethylmalonic aciduria type A protein, mitochondrialMethylmalonic aciduria type cblA (MMAA) MMABCorrinoid adenosyltransferaseMethylmalonic aciduria type cblB (MMAB) MMACHCCyanocobalamin reductase / alkylcobalamin dealkylaseMethylmalonic aciduria and homocystinuria, cblC type (MAHCC) MMADHCCobalamin trafficking protein CblDMethylmalonic aciduria and homocystinuria, cblD type (MAHCD) MMUTMethylmalonyl-CoA mutase, mitochondrialMethylmalonic aciduria type mut (MMAM) MTHFRMethylenetetrahydrofolate reductaseMethylenetetrahydrofolate reductase deficiency (MTHFRD) PAHPhenylalanine-4-hydroxylasePhenylketonuria (PKU) PAX8Paired box protein Pax-8Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) PCCAPropionyl-CoA carboxylase alpha chain, mitochondrialPropionic acidemia type I (PA-1) PCCBPropionyl-CoA carboxylase beta chain, mitochondrialPropionic acidemia type II (PA-2) SLC22A5Solute carrier family 22 member 5Systemic primary carnitine deficiency (CDSP) SLC25A13Calcium-binding mitochondrial carrier protein Aralar2Citrullinemia 2 (CTLN2), Cholestasis, neonatal intrahepatic, caused by citrin deficiency (NICCD) SLC25A20Mitochondrial carnitine/acylcarnitine carrier proteinCarnitine-acylcarnitine translocase deficiency (CACTD) TATTyrosine aminotransferaseTyrosinemia 2 (TYRSN2) TGFB1Transforming growth factor beta-1 proproteinCamurati-Engelmann disease (CAEND) TSHRThyrotropin receptorHypothyroidism, congenital, non-goitrous, 1 (CHNG1)