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Here are some of the most cited genes in Pubmed papers:

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


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Last modified: 11/08/16