| Gen / Genort | OMIM | Krankheitsbild |
|---|---|---|
| AAT-Gen / Protease-Inhibitor-1-Gen | 107400 | Alpha-1-Antitrypsin-Mangel |
| ABL-Gen / Chromosom 22 (Philadelphia-Chromosom) | 189980 | Chronisch Myeloische Leukämie (CML) |
| Aldolase B-Gen |
229600 | Fruktosämie / Fruktose-Intoleranz |
| Alpha-1-Antitrypsin-Gen (AAT) |
107400 | Alpha-1-Antitrypsin-Mangel |
| Alpha-Synuklein-Gen |
163890 | Parkinson-Syndrom |
| Androgenrezeptor-Gen (AR) |
313700 | Androgenrezeptor-Defizienz / SBMA Prostatakarzinom-Risikoanalyse |
| Antithrombin-Gen |
107300 | Antithrombinmangel |
| Apo B-Gen (Apolipoprotein B) |
107730 | Hypercholesterinämie |
| Apo E-Gen (Apolipoprotein E) |
107741 | Alzheimer-Demenz-Prädisposition Hyperlipoproteinämie Typ III |
| ATP7B-Gen / Kupfer-ATPase-Gen |
606882 | Morbus Wilson |
| ATX1-Gen (ATAXIN 1) |
601556 | Spinocerebelläre Atrophie Typ 1 |
| ATX2-Gen (ATAXIN 2) |
601517 | Spinocerebelläre Atrophie Typ 2 |
| ATX3-Gen (ATAXIN 3) |
607047 | Spinocerebelläre Atrophie Typ 3 / Machado-Joseph-Erkrankung |
| AZF1-Gen (Azoospermia Factor Regions) |
415000 | Y-Chromosom (Yq11) Spermatogenese |
| BCR (Breakpoint Cluster Region) / Chromosom 22 |
151410 | Chronisch Myeloische Leukämie (CML) |
| Beta-Globin-Gen |
141900 | Beta-Thalassämie Sichelzellanämie |
| 3-Beta-HSD (3-Beta-Hydroxysteroid-Dehydrogenase) |
201810 | Adrenogenitales Syndrom / AGS |
| BRCA-1-Gen |
113705 | Brustkrebs |
| BRCA-2-Gen |
600185 | Brust- und Ovarialkrebs |
| CACNA1A-Gen / SCA6-Gen (Calcium Channel, Alpha-1A subunit) |
601011 | Spinocerebelläre Atrophie Typ 6 |
| CFTR-Gen |
602421 | Cystische Fibrose |
| CFTR-Gen |
602421 | CBAVD |
| Chromosom 4p16 (Deletion) |
Wolf-Hirschhorn-Syndrom | |
| Chromosom 5p15 (Deletion) |
Cri-du-Chat-Syndrom | |
| Chromosom 7p11.23 (Deletion) |
Williams-Beuren-Syndrom | |
| Chromosom 15q11.2 (Deletion) |
Angelmann-Syndrom | |
| Chromosom 17p11.2 (Deletion) |
Smith-Magenis-Syndrom | |
| Chromosom 17p13.3 (Deletion) |
Miller-Dieker-Syndrom | |
| Chromosom 22 / BCR (Breakpoint Cluster Region) |
(Philadelphia-Chromosom) | |
| Chromosom 22q11.2 (Deletion) |
DiGeorge-Syndrom | |
| Chromosom Xp22.3 (Deletion) |
Kallmann-Syndrom Steroidsulfatase-Mangel |
|
| Chromosom Yq11.22-23 (Deletion) |
415000 | Azoospermiefaktor |
| COL1A1-Gen (Kollagen-1-alpha-1) |
120150 | Osteoporose-Risiko |
| COL1A2-Gen (Kollagen-1-alpha-2) |
120160 | Osteoporose-Risiko |
| COMT-Gen |
116790 | Östrogen-Metabolismus |
| Connexin 26 (GJB2-Gen) |
121011 | Sensoneurale Schwerhörigkeit Typ I |
| Connexin 30 (GJB6-Gen) |
604418 | Sensoneurale Schwerhörigkeit Typ III |
| Connexin 31 (GJB3-Gen) |
603324 | Sensoneurale Schwerhörigkeit Typ II |
| CYP1A1-Gen |
108330 | Östrogen-Metabolismus |
| CYP1B1-Gen |
601771 | Östrogen-Metabolismus |
| Cyp11B1-Gen (11-beta-Hydroxylase) |
202010 | Adrenogenitales Syndrom / AGS |
| Cyp17A1-Gen (17-alpha-Hydroxylase) |
202110 | Adrenogenitales Syndrom / AGS Östrogen-Metabolismus |
| CYP19B1-Gen / Aromatase | 107910 | |
| Cyp21B-Gen (21-Hydroxylase) |
201910 | Adrenogenitales Syndrom / AGS |
| Delta-Globin-Gen / HBD |
142000 | Delta-Thalassämie |
| DMPK-Gen (Dystrophia Myotonica Protein Kinase) |
605377 | Myotone Dystrophie |
| DPYD (Dihydropyrimidindehydrogenase) |
274270 | 5'-Fluoruracil-Toxizität / DPD-Defizienz |
| Elastin-Gen |
130160 | Williams-Beuren-Syndrom |
| ER-alpha-Gen |
133134 | Östrogen-Metabolismus Osteoporose-Risiko |
| Faktor-II-Gen (Prothrombin-Gen) |
176930 | Thrombophilie |
| Faktor-V-Gen |
227400 | Thrombophilie |
| FBN-1-Gen (Fibrillin-Gen) |
134797 | Marfan-Syndrom |
| FBN-2-Gen |
121050 | Kongenitale kontraktile Arachnodaktylie |
| FGFR3-Gen |
134934 | Achondroplasie Hypochondroplasie |
| FMR-1 (Fragile Site Mental Retardation 1) |
309550 | FRAXA / Martin-Bell-Syndrom |
| FRDA-Gen / X25-Gen / FRATAXIN |
606829 | Friedreich'sche Ataxie |
| GJB2-Gen (Connexin 26) |
121011 | Sensoneurale Schwerhörigkeit Typ I |
| GJB3-Gen (Connexin 31) |
603324 | Sensoneurale Schwerhörigkeit Typ II |
| GJB6-Gen (Connexin 30) |
604418 | Sensoneurale Schwerhörigkeit Typ III |
| Glucokinase-Gen |
138079 | Diabetes MODY Typ II |
| Gn-RH (Gonadotropin-Releasing-Hormon) |
182279 | Chromosom 15q11.2 (Deletion) Prader-Willi-Syndrom |
| GPD-Gen (Glycoprotein D) |
110700 | Duffy-System |
| HBB-Locus |
141900 | Beta-Thalassämie Sichelzellanämie |
| HBD-Locus |
142000 | Delta-Thalassämie |
| HERG-Gen |
152427 | LQTS Typ 2 |
| HFE-Gen |
235200 | Hereditäre Hämochromatose |
| HNF-1-alpha-Gen |
142410 | Diabetes MODY Typ III |
| HSD17B1-Gen |
109684 | Östrogen-Metabolismus |
| Huntington-Gen |
143100 | Chorea Huntington |
| Interleukin-1B-Gen |
147720 | Parodontitis-Risiko |
| Interleukin-1RN-Gen |
147679 | Parodontitis-Risiko |
| KAL-X-Gen (KALIG-1, ADMLX) |
308700 | Kallmann-Syndrom |
| KCNE1-Gen |
176261 | LQTS Typ 5 |
| KCNE2-Gen |
603796 | LQTS Typ 6 |
| KCNQ1-Gen |
607542 | LQTS Typ 1 |
| KEL1/KEL2 |
110900 | Kell-Antigene |
| Laktase-Gen |
603202 | Laktose-Intoleranz |
| MECP2-Gen (Methyl-CpG-bindendes Protein 2) |
300005 | Rett-Syndrom Angelmann-Syndrom |
| MEFV-Gen (Marenostrin-/Pyrin-Gen) |
608107 | Familiäres Mittelmeerfieber |
| MHC-Gen |
142830 | HLA-B27 |
| MTHFR-Gen (Methylentetrahydrofolat-Reduktase) |
607093 | MTHFR-Defizienz |
| mtDNA (mitochondriale DNA) |
Leber‘sche Hereditäre Optikusneuropathie (LHON) | |
| MTRNR-1 / mtDNA (mitochondriale DNA) 12S rRNA / Mutation A1555G |
561000 | Aminoglykosid-induzierte Taubheit |
| NF1-Gen |
162200 | Neurofibromatose Typ 1 |
| NF2-Gen |
101000 | Neurofibromatose Typ 2 |
| PAI-1-Gen |
173360 | Thrombophilie |
| PBG-Desaminase-Gen |
176000 | Akute intermittierende Porphyrie (AIP) |
| Philadelphia-Chromosom |
151410 | Chronisch Myeloische Leukämie (CML) |
| PLP-Gen |
300401 | Pelizaeus-Merzbacher-Erkrankung Spastische Paraplegie Typ 2 |
| PMP22-Gen |
601097 | Charcot-Marie-Tooth-Erkrankung |
| Protease-Inhibitor-1-Gen / AAT-Gen |
107400 | Alpha-1-Antitrypsin-Mangel |
| Protein C-Gen |
176860 | Protein C-Mangel |
| Protein S-Gen |
176880 | Protein S-Mangel |
| PTPN11-Gen |
176876 | Noonan-Syndrom |
| RET-Proto-Onkogen |
164761 | MEN 2A/2B FMTC |
| RET-Proto-Onkogen |
164761 | Morbus Hirschsprung / Megacolon congenitum |
| RHCE-Gen (Rhesus-Faktor C/E) | 111700 | |
| RHD-Gen (Rhesus-Faktor D) | 111680 | |
| SCA1-Gen / ATX1-Gen |
601556 | Spinocerebelläre Atrophie Typ 1 |
| SCA2-Gen / ATX2-Gen |
601517 | Spinocerebelläre Atrophie Typ 2 |
| SCA3-Gen / ATX3-Gen |
607047 | Spinocerebelläre Atrophie Typ 3 |
| SCA6-Gen / CACNA1A-Gen |
601011 | Spinocerebelläre Atrophie Typ 6 |
| SCA7-Gen / ATX7-Gen |
607640 | Spinocerebelläre Atrophie Typ 7 |
| SCA8-Gen |
603680 | Spinocerebelläre Atrophie Typ 8 |
| SCN5A-Gen |
600163 | LQTS Typ 3 |
| SLC26A4-Gen (Solute Carrier Family 26) |
605646 | Pendred-Syndrom |
| SMN-Gen (Survival Motor Neuron) |
600354 | Spinale Muskelatrophie Typ 1/2/3 |
| SOD1-Gen (Superoxid-Dismutase-1) |
147450 | Amyotrophe Lateralsklerose (ALS) |
| SRD5A2-Gen (Steroid-5a-Reduktase Typ 2) |
607306 | Prostatakarzinom-Risikoanalyse |
| SRY-Gen (Y-Chromosom) |
480000 | Geschlechtsdifferenzierung |
| STAR-Gen (Steroidogenic Acute Regulatory Protein) |
600617 | Adrenogenitales Syndrom / AGS |
| TCF1-Gen (Transcription Factor 1) |
142410 | Diabetes Mody Typ III |
| TNF-Gen |
191160 | Parodontitis-Risiko |
| THRB-Gen (Thyroid-Hormon-Rezeptor-beta) |
190160 | Schilddrüsenhormonresistenz |
| TRY1-Gen |
276000 | Hereditäre Pankreatitis |
| TSH-Rezeptor-Gen |
603372 | Schilddrüsenüberfunktion |
| UGT1A1-Gen |
191740 | Morbus Meulengracht / Gilbert-Syndrom |
| VDR-Gen (Vitamin-D3-Rezeptor) |
601769 | Osteoporose |
| X25-Gen / FRDA-Gen / FRATAXIN-Gen |
606829 | Friedreich‘sche Ataxie |
| Y-Chromosom |
480000 | SRY |