| Erkrankung | Gen(e) |
|---|
| Adrenogenitales Syndrom | CYP11B1 CYP17A1 CYP21A2 HSD3B2 POR |
| Ahornsirupkrankheit | BCKDHA BCKDHB DBT DLD PPM1K |
| Alpha-1-Antitrypsin Defizienz | SERPINA1 |
| Amyloidose | APOA1 FGA LYZ MEFV TTR |
| Apolipoprotein E Mangel | APOE |
| Carnitinpalmitoyltransferase II-Mangel | CPT2 |
| Cerebrotendinöse Xanthomatose | CYP27A1 |
| Cystinosis | CTNS |
| Cystinurie | SLC3A1 SLC7A9 |
| Cystische Fibrose | CFTR |
| Danon Krankheit | LAMP2 |
| Diabetes melltus permanent neonatal | ABCC8 GCK INS KCNJ11 |
| Fruktoseintoleranz | ALDOB |
| Fumarase Mangel | FH |
| Galaktosämie | GALT |
| Galle & Gallenblasen Erkrankungen | ABCB4 ABCG8 AKR1D1 AMACR ATP8B1 CYP7B1 HSD3B7 |
| Gangliosidose | GLB1 HEXA HEXB |
| GLUT1-Mangel | GLUT1 |
| Glykogenose | AGL AGL G6PC GAA GBE1 LAMP2 PFKM PGM1 PHKA1 PHKB PHKG2 PRKAG2 PYGL PYGM SLC2A2 SLC37A4 |
| HADH/SCHAD Mangel | HADHSC |
| Hämochromatose | FTH1 HAMP HFE HFE2 SLC40A1 TFR2 |
| Homocystinurie | MMACHC MTHFR |
| Hyperbilirubinemia | ABCC2 SLCO1B1 SLCO1B3 UGT1A1 UGT1A1 |
| Hypercholesterinämie | APOB LDLR PCSK9 |
| Hyperferritinämie-Katarakt Syndrom | FTL |
| Hyperornithinämie-Hyperammonämie | SLC25A15 |
| Hyperoxalurie | AGXT GRHPR HOGA1 |
| Hypo-/Hyperparathyreoidismus | CASR GCMB PTH |
| Hypophysen-Hormon-Mangel | HESX1 POU1F1 PROP1 LHX3 LHX4 OTX2 |
| Kalzium Metabolismus | AP2S1 CASR CYP24A1 GNA11 |
| Koproporphyrie | CASR CPOX PTH |
| Laktoseintoleranz | LTC |
| Laron Syndrom | GHR STAT5B |
| Leukenzephalopathie | ARSA CLCN2 COL4A1 CSF1R CSF1R DARS2 EARS2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 GALC HEPACAM HTRA1 MLC1 NOTCH3 POLR3A RNASET2 SCP2 TYMP |
| Lipodystrophie | AGPAT2 BSCL2 CAV1 CIDEC LMNA PLIN1 PPARG PPP1R3A PTRF ZMPSTE24 |
| Maligne Hyperthermie | CACNA1S RYR1 |
| Methylmalonic aciduria and homocystinuria | LMBRD1 MMACHC |
| MODY Diabetes | BLK CEL GCK HNF1A HNF1B HNF4A INS IPF1 KLF11 NEUROD1 PAX4 |
| Morbus Fabry | GLA |
| Morbus Krabbe | GALC |
| Morbus Wilson | ATP7B |
| Mukopolysaccharidose | ARSB GALNS GLB1 GUSB HGSNAT HYAL1 IDS IDUA NAGLU SGSH |
| Neuroferritinopathie | C19orf12 COASY FTL PANK2 PLA2G6 WDR45 |
| Neuronale Ceroid-Lipofuscinose | CLN3 CLN5 CLN6 CLN8 CTSD CTSF DNAJC5 GRN MFSD8 PPT1 TPP1 |
| Niemann-Pick-Krankheit | NPC1 NPC2 SMPD1 |
| Obesität | ADRB2 ADRB3 AGRP CART ENPP1 GHRL MC4R NR0B2 POMC PPARG PPARGC1B SDC3 SIM1 UCP1 UCP3 |
| Pankreatitis | CFTR CTRC PRSS1 SPINK1 |
| Perosxysomale Erkrankungen /Zellweger | PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX26 PEX3 PEX5 PEX6 PEX7 PXMP3 |
| Porphyrie | ALAD CPOX FECH HFE HMBS PPOX UROD UROS |
| Propionazidämie | PCCA PCCB |
| Pseudohypoaldosteronismus | CUL3 KLHL3 NR3C2 PHA2A SCNN1A SCNN1B SCNN1G WNK1 WNK4 |
| Pyridoxamin-5′-Phosphat-Oxidase-Mangel | PNPO |
| Refsum Krankheit | PEX1 PEX7 PHYH |
| Schilddrüsen dyshormonogenesis | DUOX2 DUOXA2 IYD SLC26A4 SLC5A5 TG TPO |
| Succinatsemialdehyddehydrogenase-Mangel | ALDH5A1 |
| Thyroidhormonresistenz | THRB |
| VLCAD-Mangel | ACADVL |