| Symbol |
Chromosome |
Protein |
Products |
| ABO |
9 |
Glycosyl transferases |
Determinant of blood type (ABO) |
| ACE |
17 |
Angiotensin 1 convertin |
Angiotensin pathway |
| ALB |
4 |
Serum Albumin |
BSA |
| APC |
5q21-q22 |
Adenomatous polyposis coli protein |
Familial adenomatous polyposis |
| APOE |
unknown |
Apolipoprotein E |
statin pathway |
| APP |
21q21 |
Amyloid precursor protein |
Alzheimer's disease |
| ASPM |
1q31 |
Abnormal spindle-like microcephaly-associated protein |
Microcephaly |
| ABO |
9 |
Glycosyl transferases |
Determinant of blood type (ABO) |
| BCL2 |
18q21.3 |
Apoptosis downstream |
cancer |
| BDNF |
11p13 |
Brain-derived neurotrophic factor |
Congenital central hypoventilation syndrome |
| BRCA1 |
17q21 |
Breast cancer 1, early onset |
Breast cancer |
| BRCA2 |
13q12-13 |
Breast cancer 2, early onset |
Breast cancer |
| CCR5 |
3p21 |
C-C receptor 5 |
GCPR |
| CD28 |
2q33 |
CD28 antigen |
co stimulator receptor |
| CD4 |
12pter-p12 |
CD4 antibody |
t helper |
| CD8 |
2p12 |
CD8 antibody |
cell separation |
| CDH1 |
NA |
activator and specificity factor for anaphase promoting complex |
CDH1 SIGNALLING |
| CFTR |
7q31.2 |
Cystic fibrosis transmembrane conductance regulator |
Cystic Fibrosis |
| CREBBP |
16p13.3 |
CREB binding protein |
Rubinstein-Taybi syndrome |
| CRH |
8q13 |
Corticotropinreleasing hormone |
Determinant of blood type (ABO) |
| CXCR4 |
2q21 |
Chemokine (C-X-C motif) receptor 4 / fusin |
WHIM syndrome |
| DHFR |
5q11.2-q13.2 |
Dihydrofolate reductase |
Folate deficiency |
| EGF |
unknown |
Epidermal Growth Factor |
Skin cancer |
| ESR1 |
1 |
Estrogen receptor 1 |
Breast cancer |
| GAST |
17q21 |
Gastrin |
Zollinger-Ellison syndrome |
| HFE |
6p21.3 |
Hereditary hemochromatosis protein precursor |
Iron Haemochromatosis |
| IL10 |
1q31-q32 |
Interleukin 10 |
inflammation |
| IL4 |
11 |
Interleukin 4 |
spinal cord |
| IL2 |
4q26-q27 |
Interleukin 2 |
Various cancers |
| INS |
11p15.5 |
insulin |
diabetes mellitus |
| KRT14 |
17q12-q21 |
Keratin |
Epidermolysis bullosa |
| KRT5 |
12q13 |
Keratin |
Epidermolysis bullosa |
| LCK |
1p35-p34.3 |
Leukocyte-specific protein tyrosinekinase |
Leukemia |
| LEP |
7q31.3 |
Leptin |
Obesity |
| LIF |
22q12.1-q12.2 |
Leukemia inhibitory factor |
Leukemia |
| MCM6 |
2q21 |
Minichromosome maintenance deficient 6 |
lactose intolerance |
| MEFV |
16p13.3 |
Pyrin |
Familial Mediterranean Fever |
| MTHFR |
unknown |
Methylene tetra- hydrofolate reductaser |
Selenium |
| MYH7 |
14q12 |
Myosin, heavy polypeptide 7, cardiac muscle, beta |
Hypertrophic cardiomyopathy |
| MYOD1 |
11p15.4 |
Myogenic differentiation 1 |
Rhabdomyosarcoma |
| NFKB |
4q24 |
Nuclear factor kappa b |
|
| NPPB |
1p36.2 |
Brain Natriuretic Peptide |
Determinant of blood type (ABO) |
| NPTN |
15q22 |
Neuroplastin |
ELISA NPTN |
| OSM |
22q12.1-q12.2 |
Oncostatin M |
Leukemia |
| PGL2 |
11q13.1 |
Paraganglioma or familial glomus tumors 2 |
Paraganglioma |
| PHF8 |
Xp11.22 |
PHD finger protein 8 |
Siderius X-linked mental retardation syndrome |
| PIP |
7q32-q36 |
Prolactin-induced protein |
Fibrocystic breast disease |
| PKC |
16p11.2-q12.1 |
Paroxysmal kinesogenic choreoathetosis |
Choreoathetosis |
| RHO |
3q21-q24 |
Rhodopsin |
Retinitis pigmentosa |
| Rosa26 |
na |
Gene Trap Rosa 26 |
P. Soriano |
| SDHB |
1p36.1-p35 |
Succinatede hydrogenase complex subunit B |
Pheochromocytoma/Paraganglioma |
| SDHC |
1q21 |
Succinate dehydrogenasecomplex subunit C |
Pheochromocytoma/Paraganglioma |
| SDHD |
11q23 |
Succinate dehydrogenasecomplex subunit D |
Pheochromocytoma/Paraganglioma |
| SLC18A2 |
10q25 |
Vesicular Monoamine Transporter |
Drug induced mood disorders |
| SRY |
Yp11.3 |
Testis determining factor / Sex determining region Y |
Swyer syndrome / Gonadal dysgenesis / Hermaphroditism |
| TGFB1 |
19 |
Transforming growth actor beta 1 |
tgfb1 pathway |
| TNF |
12 |
Tumor Necrosis Factor |
TNF a pathway |
| TP53 |
17p13.1 |
tumor protein p53 |
TO53 pathway signalling |
| TRP53 |
11 |
Transformation related protein 53 |
miRNA pathway |
| TSC1 |
9q34 |
Hamartin |
Tuberous sclerosis |
| TSC2 |
16p13.3 |
Tuberin |
Tuberous sclerosis |
| UBC |
12 |
Ubiquitin C |
death kiss |
| VGF |
unknown |
Vascular Endotherlial Growth factor |
nerve growth |
| Zbtb7 |
19p13.3 |
Zbtb7 or POK erythroid myeloid ontogenic factor |
Cancer |
+32
1641 4407
+32
1650 9045
