| Name | Gene | OMIM |
|---|---|---|
| Acyl-CoA oxidase deficiency | ACOX1 | 264470 |
| Acyl-CoA synthetase family, member 3 deficiency | ACSF3 | 614265 |
| Adenine phosphoribosyl transferase deficiency | APRT | 102600 |
| Adenosine deaminase 2 deficiency | ADA2 | 607575 |
| Adenosine deaminasadae deficiency | ADA | 102700 |
| Adenosine kinase deficiency | ADK | 614300 |
| Adenylosuccinate lyase deficiency | ADSL | 103050 |
| Alanyl-tRNA synthetase 1 | AARS1 | 601065 |
| Alanyl-tRNA synthetase 2 | AARS2 | 612035 |
| Alexander disease | GFAP | 203450 |
| Alkaline phospatase, liver deficiency | ALPL | 146300, 241500, 241510 |
| Aminoacyl-tRNA synthetase complex-interactive multifunctional protein 1 | AIMP1 | 603605 |
| Aminoacyl-tRNA synthetase complex-interactive multifunctional protein 2 | AIMP2 | 600859 |
| Arginine:glycine amidinotransferase (AGAT) deficiency | GATM | 612718 |
| Argininosuccinate lyase deficiency | ASL | 207900 |
| Arginyl-tRNA synthetase 1 | RARS1 | 107820 |
| Arginyl-tRNA synthetase 2 | RARS2 | 611524 |
| Aromatic amino acid decarboxylase deficiency | DDC | 608643 |
| Arylsulfatase A deficiency | ARSA | 250100 |
| Asparaginyl-tRNA synthetase 1 | NARS1 | 108410 |
| Asparaginyl-tRNA synthetase 2 | NARS2 | 612803 |
| Aspartyl-tRNA synthetase 2 deficiency / Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation "LBSL | DARS2 | 611105 |
| Aspartyl-tRNA synthetase 1 deficiency / Hypomyelinisation with brainstem and spinal cord involvement and leg spasticity "HBSL" | DARS1 | 615281 |
| B-Cell receptor associated protein 31 deficiency | BCAP31 | 300398 |
| BolA family member 3 deficiency | BOLA3 | 614299 |
| Brown-Vialetto-Van Laere syndrome, type 1 | SLC52A3 | 211530 |
| Brown-Vialetto-Van Laere syndrome, type 2 | SLC52A2 | 614707 |
| Brown-Vialetto-Van Laere syndrome, type 3 | SLC52A1 | 607883 |
| Canavan disease | ASPA | 271900 |
| Carbamylphosphate synthase 1 deficiency | CPS1 | 237300 |
| Carbonic anhydrase VA deficiency | CA5A | |
| Carnitine deficiency, primary/ OCTN2 | SLC22A5 | 212140 |
| Carnitine palmitoyltransferase 1 deficiency | CPT1A | 255120 |
| Carnitine palmitoyltransferase 2 deficiency | CPT2 | 600649 |
| Carnitine-acylcarnitine translocase (CACT) deficiency | SLC25A20 | 212138 |
| Ceruloplasmine deficiency/ Ferroxidase | CP | 604290 |
| CHILD syndrome | NSDHL | 308050 |
| Chitotriosidase deficiency c.1049_1072dup | CHIT1 | 614122 |
| Citrullinemia, type 1 | ASS1 | 215700 |
| Citrullinemia, type 2 | SLC25A13 | 603471 |
| Collectrin/ Transmembrane protein 27 | TMEM27 | |
| Complementation analysis (PEX gene unknown; skin fibroblasts required) | 214100 | |
| Congenital disorder of glycosylation,CDG type IIh | COG8 | 611182 |
| Conradi-Hünermann-Happle syndrome/CDPX2 | EBP | 302960 |
| Creatine transporter defect, X-linked | SLC6A8 | 300352 |
| Cystathionine beta-synthase deficiency | CBS | 236200 |
| Cysteinyl-tRNA synthetase 1 | CARS1 | 123859 |
| Cysteinyl-tRNA synthetase 2 | CARS2 | 612800 |
| Cytosolic iron-sulfur assembly component | CIAO1 | 604333 |
| D-Bifunctional protein (DBP) deficiency | HSD17B4 | 261515 |
| Dentin matrix acidic phosphoprotein 1 deficiency | DMP1 | 600980 |
| Desmosterolosis | DHCR24 | 602398 |
| Dihydrofolate reductase deficiency | DHFR | 613839 |
| Dihydrolipoamide dehydrogenase deficiency/ MSUD type III | DLD | 246900 |
| Dihydropyrimidinase deficiency | DPYS | 222748 |
| Dihydropyrimidine dehydrogenase deficiency | DPYD | 274270 |
| D-tyrosyl-tRNA deacylase | DTD1 | 610996 |
| Ectonucleotide pyrophosphatase/phosphodiesterase 1 deficiency | ENPP1 | 173335 |
| Ethylmalonic aciduria (Ethylmalonic encephalopathy) | ETHE1 | 602473 |
| Eukaryotic translation elongation factor epsilon | EEF1E1 | 609206 |
| Flavin adenine dinucleotide synthetase (FADS) deficiency | FLAD1 | 255100 |
| Folate malabsorption, hereditary | SLC46A1 | 229050 |
| Folate transport deficiency | FOLR1 | 613068 |
| Fructokinase/ Ketohexokinase deficiency | KHK | 229800 |
| Fructose intolerance, hereditary | ALDOB | 229600 |
| Fructose-1,6-biphosphatase-1 deficiency | FBP1 | 229700 |
| GABA-transaminase (GABA-T) deficiency | ABAT | 613163 |
| Galactokinase deficiency | GALK1 | 230200 |
| Galactosemia | GALT | 230400 |
| Galactosemia type 4 | GALM | 618881 |
| Galactosialidosis | CTSA | 256540 |
| Galactosyltransferase 1/ Congenital disorder of glycosylation, type II d | B4GALT1 | 607091 |
| Gastric intrinsic factor deficiency | GIF | 261000 |
| Glucose transporter 1 (GLUT1) deficiency | SLC2A1 | 606777 |
| Glucose-6-phosphate dehydrogenase deficiency | G6PD | 300908 |
| Glutaric aciduria type 1 | GCDH | 231670 |
| Glutamate dehydrogenase-1 deficiency | GLUD1 | 606762 |
| Glutaminase deficiency | GLS | 138280 |
| Glutaminyl-tRNA synthetase 1 | QARS1 | 603727 |
| Glutamyl-Prolyl-tRNA synthetase 1 | EPRS1 | 138295 |
| Glutamyl-t-RNA synthetase 2 deficiency / Leukoencephalopathy with thalamus and brainstem involvement and high lactate "LTBL" | EARS2 | 612799 |
| Glutaredoxin 5 deficiency | GLRX5 | 616859 |
| Glycine N-methyltransferase deficiency | GNMT | 606664 |
| Glycine transporter 1 deficiency | SLC6A9 | 617301 |
| Glycine transporter 2 deficiency | SLC6A5 | 614618 |
| Glycogen storage disease type II/ Pompe disease | GAA | 232300 |
| Glycogen storage disease type IV | GBE1 | 232500 |
| Glycogen storage disease type VII (Tauri) | PFKM | 232800 |
| Glycogen storage disease type 0 | GYS2 | 240600 |
| Glycyl-tRNA synthetase 1 | GARS1 | 600287 |
| GM1-gangliosidosis | GLB1 | 230500 |
| Greenberg skeletal dysplasia | LBR | 215140 |
| GTP cyclohydrolase I deficiency | GCH1 | 233910 |
| Guanidinoacetate methyltransferase deficiency | GAMT | 612736 |
| Hartnup disorder | SLC6A19 | 234500 |
| Histidyl-tRNA synthetase 1 | HARS1 | 142810 |
| Histidyl-tRNA synthetase 2 | HARS2 | 600783 |
| HMG-CoA lyase deficiency/ 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency | HMGCL | 246450 |
| Holocarboxylase synthetase deficiency | HLCS | 253270 |
| D-2- and L-2-hydroxyglutaric aciduria/ Mitochondrial citrate transporter | SLC25A1 | 615182 |
| D-2-hydroxyglutaric acidurie and metaphyseal chondromatosis | IDH1 | 147700 |
| D-2-hydroxyglutaric aciduria, type 1 | D2HGDH | 600721 |
| D-2-hydroxyglutaric aciduria, type 2 | IDH2 | 613657 |
| L-2-hydroxyglutaric aciduria | L2HGDH | 236792 |
| 3-Hydroxyisobutyrate dehydrogenase deficiency | HIBADH | 608475 |
| 3-Hydroxyisobutyryl-CoA hydrolase deficiency | HIBCH | 250620 |
| Hyper IgD syndrome/ Mevalon aciduria/ Mevalonic kinase deficiency | MVK | 260920 |
| Hypercarotenemia and vitamin A deficiency | BCO1 | 115300 |
| Hyperfenylalaninemia, BH4-deficient, A | PTS | 261640 |
| Hyperphenylalaninemia, BH4-deficient, C / Dihydropteridine reductase deficiency | QDPR | 261630 |
| Hyperlysinemia | AASS | 238700 |
| Hyperoxaluria and nephrolithiasis | SLC26A6 | 610068 |
| Hyperoxaluria type 1 | AGXT | 259900 |
| Hyperoxaluria type 2 | GRHPR | 260000 |
| Hyperoxaluria type 3 | HOGA1 | 613616 |
| Hyperphenylalaninemia, mild, non-BH4-deficient | DNAJC12 | 617384 |
| Hypophosphatemic rickets, X-linked dominant | PHEX | 307800 |
| Hypoxanthine-guanine phosphoribosyltransferase deficiency | HPRT1 | 300322 |
| Imerslund-Grasbeck syndrome 2/ Megaloblastic anemia, Norwegian type | AMN | 618882 |
| Inosine triphosphatase deficiency | ITPA | 613850 |
| Isoleucyl-tRNA synthetase 1 | IARS1 | 600709 |
| Isoleucyl-tRNA synthetase 2 | IARS2 | 612801 |
| Isovaleryl-CoA dehydrogenase deficiency /Isovaleric acidemia | IVD | 243500 |
| ß-Ketothiolase deficiency | ACAT1 | 607809 |
| Krabbe disease | GALC | 245200 |
| Lathosterolosis | SC5DL | 607330 |
| Leucyl-tRNA synthetase 1 | LARS1 | 151350 |
| Leucyl-tRNA synthetase 2 | LARS2 | 604544 |
| LIPIN 3 | LPIN3 | |
| Lipoic Acid synthase deficiency | LIAS | 614462 |
| Lysinuric protein intolerance | SLC7A7 | 222700 |
| Lysosomal acid lipase deficiency | LIPA | 278000 |
| Lysyl-tRNA synthetase 1 | KARS1 | 601421 |
| Majeed syndrome | LPIN2 | 609628 |
| Malonyl-CoA-decarboxylase deficiency | MLYCD | 248360 |
| Mannosidase, beta A, lysosomal deficiency | MANBA | 609489 |
| Mannosidosis, alpha-, type I and II | MAN2B1 | 248500 |
| Maple syrup urine disease II | DBT | 248600 |
| Maple syrup urine disease Ia | BCKDHA | 248600 |
| Maple syrup urine disease Ib | BCKDHB | 248600 |
| Methionine adenosyltransferase deficiency | MAT1A | 250850 |
| Methionyl-tRNA synthetase 2 | MARS2 | 609728 |
| α-methylacyl-CoA racemase deficiency | AMACR | 604489 |
| 2-methylbutyryl glycinuria / 2-Methylbutyryl-CoA dehydrogenase deficiency | ACADSB | 610006 |
| 3-Methylcrotonyl-CoA carboxylase (MCC) deficiency | MCCC1 | 210200 |
| 3-Methylcrotonyl-CoA carboxylase (MCC) deficiency | MCCC2 | 210210 |
| Methylenetetrahydrofolate dehydrogenase 1 deficiency | MTHFD1 | 601643 |
| Methylenetetrahydrofolate reductase deficiency | MTHFR | 236250 |
| 3-Methylglutacon aciduria type 3 / Optic atrophy 3 | OPA3 | 258501 |
| 3-Methylglutaconyl-CoA hydratase deficiency / 3-methylglutacon aciduria type I | AUH | 250950 |
| 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency | HSD17B10 | 300438 |
| Methylmalonic aciduria and homocysteinemia, cblX type (X-linked) | HCFC1 | 309541 |
| Methylmalonic aciduria and homocystinurie, cblC type | MMACHC | 277400 |
| Methylmalonic aciduria and homocystinurie, cblD type | MMADHC | 277410 |
| Methylmalonic aciduria and homocystinurie, cblF type | LMBRD1 | 277380 |
| Methylmalonic aciduria and homocystinurie, cbIJ type | ABCD4 | 614857 |
| Methylmalonic aciduria, vitamin B12 responsive, cblA type | MMAA | 607481 |
| Methylmalonic aciduria, vitamin B12 responsive, cblB type | MMAB | 607568 |
| Methylmalonic aciduria, vitamin B12 responsive, transcobalamin receptor defect | TCbIR | 613646 |
| Methylmalonate semialdehyde dehydrogenase deficiency | ALDH6A1 | 614105 |
| Methylmalonyl CoA mutase deficiency | MMUT | 609058 |
| Methylmalonyl-CoA epimerase deficiency | MCEE | 251120 |
| 5-Methyltetrahydrofolate-homocysteine methyltransferase deficiency, type cblG | MTR | 156570 |
| 5-Methyltetrahydrofolate-homocysteine methyltransferase reductase deficiency, type cblE | MTRR | 602568 |
| Medium-chain acyl-CoA dehydrogenase deficiency | ACADM | 201450 |
| Mitochondrial DNA depletion syndrome 2 | SUCLA2 | 603921 |
| Mitochondrial trifunctional protein deficiency (includes LCHAD deficiency) | HADHA | 609015 |
| Mitochondrial trifunctional protein deficiency | HADHB | 609015 |
| Molybdenum cofactor deficiency, type A | MOCS1 | 252150 |
| Molybdenum cofactor deficiency, type B | MOCS2 | 252160 |
| Molybdenum cofactor deficiency, type C | GPHN | 615501 |
| Monocarboxylate transporter 12 deficiency | SLC16A12 | 611910 |
| Monocarboxylate transporter member 1 (MCT1) deficiency | SLC16A1 | 600682 |
| Mucolipidosis type IV/ Mucolipin-1 deficiency | MCOLN1 | 252650 |
| Mucopolysacharidose type III/ Sanfilippo type A | SGSH | 252900 |
| Mucopolysaccharidosis type IIIB/ Sanfilippo type B | NAGLU | 252920 |
| Multiple acyl-CoA dehydrogenase deficiency | ETFA | 231680 |
| Multiple acyl-CoA dehydrogenase deficiency | ETFB | 231680 |
| Multiple acyl-CoA dehydrogenase deficiency | ETFDH | 231680 |
| Multiple mitochondrial dysfunctions syndrome 1 | NFU1 | 605711 |
| N-acetylglutamate synthase deficiency | NAGS | 237310 |
| Neuraminidase deficiency / Sialidosis | NEU1 | 608272 |
| Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (NEDHSB) /Spermatogenesis-associated protein 5 deficiency | SPATA5 | 616577 |
| NKH Aminomethyltransferase deficiency | AMT | 605899 |
| NKH Glycine cleavage system H-protein deficiency | GCSH | 605899 |
| NKH Glycine decarboxylase deficiency | GLDC | 605899 |
| Nucleotide-binding protein-like protein deficiency | NUBPL | 613621 |
| Ornithine aminotransferase deficiency | OAT | 258870 |
| Ornithine transcarbamylase deficiency | OTC | 311250 |
| Phenylalanyl-tRNA synthetase 2 | FARS2 | 611592 |
| Phenylalanyl-tRNA synthetase, alpha subunit | FARSA | 602918 |
| Phenylalanyl-tRNA synthetase, beta subunit | FARSB | 609690 |
| Phenylketonuria/hyperfenylalaninemia, non-PKU mild | PAH | 261600 |
| Phosphatidylinositol 4-kinase deficiency | PI4KA | 616531 |
| Phosphoglycerate dehydrogenase deficiency | PHGDH | 601815 |
| Phosphoglycerate mutase deficiency, muscle | PGAM2 | 261670 |
| Phosphoribosyl pyrophosphate synthetase superactivity and deficiency | PRPS1 | 300661 |
| Phosphoserine aminotransferase deficiency | PSAT1 | 610936 |
| Phosphoserine phosphatase deficiency | PSPH | 614023 |
| Prolyl-tRNA synthetase 2 | PARS2 | 612036 |
| Propionyl CoA carboxylase alpha subunit deficiency | PCCA | 606054 |
| Propionyl CoA carboxylase beta subunit deficiency | PCCB | 606054 |
| Purine nucleoside phosphorylase deficiency | PNP | 164050 |
| Pyridoxal phosphate binding protein | PLPBP | 617290 |
| Pyridoxamine 5'-phosphate oxidase deficiency | PNPO | 610090 |
| Pyridoxine dependent epilepsy | ALDH7A1 | 266100 |
| Refsum disease | PEX7 | 614879 |
| Refsum disease | PHYH/PAHX | 266500 |
| Rhabdomyolysis, acute recurrent | LPIN1 | 268200 |
| Rhizomelic chondrodysplasia punctata type 1 | PEX7 | 215100 |
| Rhizomelic chondrodysplasia punctata type 2 | GNPAT | 222765 |
| Rhizomelic chondrodysplasia punctata type 3 | AGPS | 600121 |
| Ribose 5-phosphate isomerase deficiency | RPIA | 180430 |
| S-adenosylhomocysteine hydrolase (SAHH) deficiency | AHCY | 613752 |
| Sedoheptulokinase deficiency | SHPK | 617213 |
| Seryl-tRNA synthetase 1 | SARS1 | 607529 |
| Seryl-tRNA synthetase 2 | SARS2 | 612804 |
| Short-chain acyl-CoA dehydrogenase deficiency | ACADS | 201470 |
| Short-chain enoyl-CoA hydratase/Crotonase deficiency | ECHS1 | 602292 |
| Sjögren-Larsson syndrome | ALDH3A2 | 270200 |
| Smith-Lemli-Opitz Syndrome | DHCR7 | 270400 |
| Sodium phosphate cotransporter, member 3 deficiency | SLC34A3 | 241530 |
| Sodium-dependent citrate transporter, member 5 deficiency | SLC13A5 | 615905 |
| Spermine synthase deficiency/ Snyder-Robinson type | SMS | 309583 |
| Succinate semialdehyde dehydrogenase (SSADH) deficiency | ALDH5A1 | 271980 |
| Succinate-CoA ligase | SUCLG1 | 611224 |
| Succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency | OXCT1 | 245050 |
| Sulfatase modifying factor 1 deficiency / Multiple sulfatase deficiency | SUMF1 | 272200 |
| Sulfite oxidase deficiency | SUOX | 272300 |
| Tay-Sachs disease | HEXA | 272800 |
| Thiamine transporter deficiency | SLC19A3 | 607483 |
| Threonyl-tRNA synthetase 1 | TARS1 | 187790 |
| Threonyl-tRNA synthetase 2 | TARS2 | 612805 |
| Threonyl-tRNA synthetase-like 2 | TARSL2 | |
| Thymidine phosphorylase deficiency | TYMP | 603041 |
| Transaldolase deficiency | TALDO1 | 606003 |
| Transketolase deficiency | TKT | 606781 |
| Triosephosphate isomerase deficiency | TPI1 | 190450 |
| Tryptophanyl-tRNA synthetase 1 | WARS1 | 191050 |
| Tryptophanyl-tRNA synthetase 2 | WARS2 | 604733 |
| Tyrosine hydroxylase deficiency | TH | 191290 |
| Tyrosyl-tRNA synthetase 1 | YARS1 | 603623 |
| Tyrosyl-tRNA synthetase 2 | YARS2 | 610957 |
| ß-Ureidopropionase deficiency | UPB1 | 606673 |
| Valyl-tRNA synthetase 1 | VARS1 | 192150 |
| Valyl-tRNA synthetase 2 | VARS2 | 612802 |
| Branched chain aminotransaminase 2 deficiency | BCAT2 | 618850 |
| Very long-chain acyl-CoA dehydrogenase deficiency | ACADVL | 201475 |
| X-linked adrenoleukodystrophy, X-ALD | ABCD1 | 300100 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX1 | 602136 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX2 | 170993 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX3 | 603164 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX5 | 600414 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX6 | 601498 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX10 | 602859 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX11β | 603867 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX12 | 601758 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX13 | 601789 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX14 | 601791 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX16 | 603360 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX19 | 600279 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX26 | 608666 |
| Zinc transporter deficiency/ Acrodermatitis enteropathica | SLC39A4 | 201100 |
