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Furin | Furin is a protein coding gene that activates certain proteins by snipping off specific sections. |
MUCL1 | MUCL1 include Breast Cancer and Tn Polyagglutination Syndrome. |
UMOD | UMOD 1 gene, including: function, proteins, disorders, pathways, orthologs, and expression, mutations are the most common cause of ADTKD, and mutational analysis should be considered as the first genetic test if there is a family history of early gout in some members. |
MLANA | MLANA include Melanoma In Congenital Melanocytic Nevus and Angiomyolipoma, TCR Jurkat cell line is a stable cell line made from the anti TCR lentivirus. |
HAMP | HAMP ’s goal is to offer homeowners who are at risk of foreclosure reduced monthly mortgage payments that are affordable and sustainable over the long term. |
KRAS | KRAS mutations vary between cancer types, but have been shown to be associated with poor outcome in colorectal cancer, non small cell lung cancer, and others, 4b 1 antibody with full length 4a, |
AKT3 | AKT3 1 as primary Ab against MCF10A KRas cell lysate. |
AKT1 | AKT1 gene is catalytically inactive in serum starved primary and immortalized fibroblasts, 2 as primary Ab against recombinant . |
CD22 | CD22 include Refractory Hematologic Cancer and Hairy Cell Leukemia. |
ANGPTL4 | ANGPTL4 include Plasma Triglyceride Level Qtl, Low and Severe Nonproliferative Diabetic Retinopathy. |
MAPK1 | MAPK1 1 as primary Ab against MCF10A KRAS cell lysate. |
CST5 | CST5 is used for rabbit immunization. |
ARPC1B | ARPC1B is used for rabbit immunization. |
ACE2 | ACE2 Products Bring this labeled protein directly to your bench! Product Overview : Recombinant Human protein was expressed from mammalian with a His tag and Avi at the C terminal, include Covid 19 and Severe Acute Respiratory Syndrome. |
ARAF | ARAF has recently become increasingly considered for its oncogenic potential. |
FABP4 | FABP4 encodes the fatty acid binding protein found in adipocytes, and decreased expression of SLC52A3 were correlated with poor prognosis. |
MAP2K1 | MAP2K1 1 as primary Ab against MCF10A KRAS cell lysate, is a dual specificity kinase known for it's involvement in the ERK pathway by activation of ERK1 and ERK2. |
CCL27 | CCL27 Polyclonal Antibody at dilution of 1:55. |
ARPC3 | ARPC3 is used for rabbit immunization. |
ARHGEF12 | ARHGEF12 is used for rabbit immunization. |
PLAC8 | PLAC8 Human Recombinant produced in E.Coli is a single, non glycosylated polypeptide chain containing 138 amino acids and having a molecular mass of 14.9kDa.;PLAC8 is fused to a 23 amino acid His tag.., include Retinitis Pigmentosa 70. |
AGFG1 | AGFG1 is used for rabbit immunization. |
AGPAT4 | AGPAT4 is used for rabbit immunization. |
ALOXE3 | ALOXE3 is used for rabbit immunization. |
AMY1B | AMY1B is used for rabbit immunization. |
ANKHD1 | ANKHD1 is used for rabbit immunization. |
ANXA11 | ANXA11 is used for rabbit immunization. |
AOAH | AOAH is used for rabbit immunization. |
ARHGAP12 | ARHGAP12 is used for rabbit immunization. |
ARPC4 | ARPC4 is used for rabbit immunization. |
ATP6V0C | ATP6V0C is used for rabbit immunization. |
CACNG5 | CACNG5 is used for rabbit immunization. |
CAPS2 | CAPS2 is used for rabbit immunization. |
CD248 | CD248 include Vascular Cancer and Adult Fibrosarcoma. |
CDX2 | CDX2 is a sensitive marker for colonic carcinoma metastatic to the ovary and is more specific than CK20 as it is not expressed by serous. |
COMMD9 | COMMD9 include Ritscher Schinzel Syndrome and Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome. |
CTNNA2 | CTNNA2 include Cortical Dysplasia, Complex, With Other Brain Malformations 9 and Arrhythmogenic Right Ventricular Cardiomyopathy. |
DIRAS1 | DIRAS1 is used for rabbit immunization. |
ELOVL3 | ELOVL3 is used for rabbit immunization. |
ERAP2 | ERAP2 is used for rabbit immunization. |
ERBB2 | ERBB2, commonly referred to as HER2, is amplified and/or overexpressed in 20 30% of invasive breast carcinomas. |
EYA4 | EYA4 is used for rabbit immunization. |
FBXW4 | FBXW4 is used for rabbit immunization. |
FCGRT | FCGRT is used for rabbit immunization. |
FKBP2 | FKBP2 is used for rabbit immunization. |
FLT3LG | FLT3LG include Aplastic Anemia and Severe Combined Immunodeficiency. |
GPR137C | GPR137C Products Bring this labeled protein directly to your bench! Product Overview : Human full length ORF recombinant protein without tag. |
KIR2DL5A | KIR2DL5A include the Immune response Role of DAP12 receptors in NK cells and Allograft rejection. |
OR2C3 | OR2C3 is used for rabbit immunization. |
RNFT1 | RNFT1 Products Bring this labeled protein directly to your bench! Product Overview : Human LOC51136 full length ORF recombinant protein with GST tag at N terminal. |
S100A16 | S100A16 Polyclonal Antibody from Thermo Fisher Scientific, catalog # PA5 61104, RRID AB_2646895, proteins, but not other S100 proteins, have only one functional Ca binding site per monomer. |
CNTN4 | CNTN4 is used for rabbit immunization. |
FLAD1 | FLAD1 is used for rabbit immunization. |
AMY1C | AMY1C is used for rabbit immunization. |
CYP11B1 | CYP11B1 is used for rabbit immunization. |
ZNF24 | ZNF24, Anti RSG A, Anti Zinc finger protein 24, Anti Zinc finger protein 191, Anti Zinc finger protein... |
AGPAT1 | AGPAT1 is used for rabbit immunization. |
FBXL7 | FBXL7 is used for rabbit immunization. |
CUTC | CUTC is used for rabbit immunization. |
DHDDS | DHDDS is used for rabbit immunization. |
GABRA4 | GABRA4 is used for rabbit immunization. |
BRAF | BRAF mutations are found to be recurrent in many cancer types. |
CRTAM | CRTAM gene is upregulated in CD4 positive and CD8 positive T cells and encodes a type I transmembrane protein with V and C1 like Ig domains .[supplied by OMIM, Feb 2009] See more... |
CPN1 | CPN1 is used for rabbit immunization. |
PSG4 | PSG4 is used for rabbit immunization. |
HSD17B13 | HSD17B13 Polyclonal Antibody from Thermo Fisher Scientific, catalog # PA5 109834, RRID AB_2855245, Products Bring this labeled protein directly to your bench! Product Overview : Human full length ORF recombinant protein with GST tag at N terminal. |
FJX1 | FJX1 is used for rabbit immunization. |
PDGFRB | PDGFRB was the major reason for a major abnormality in the protein that was encoded in the receptor. |
FBXW2 | FBXW2 is used for rabbit immunization. |
SLC5A2 | SLC5A2 include Renal Glucosuria and Aminoaciduria. |
DPP8 | DPP8 is used for rabbit immunization. |
DDX25 | DDX25 is used for rabbit immunization. |
XBP1 | XBP1 include major affective disorder 7 and metaphyseal chondrodysplasia, schmid type. |
SLC6A4 | SLC6A4 gene encodes an integral membrane protein that transports the neurotransmitter serotonin from synaptic spaces into presynaptic neurons. |
MCHR2 | MCHR2 include Peach Allergy and Localized Chondrosarcoma, include Alopecia Areata and Peach Allergy. |
BBS5 | BBS5 is used for rabbit immunization. |
ZMAT3 | ZMAT3 is used for rabbit immunization. |
HRH4 | HRH4 include Allergic Hypersensitivity Disease and Pericarditis. |
CYP4V2 | CYP4V2 is used for rabbit immunization. |
ENPP1 | ENPP1 is used for rabbit immunization. |
KLRK1 | KLRK1 belongs to the C type lectin family. |
MC4R | MC4R include Body Mass Index Quantitative Trait Locus 20 and Body Mass Index Quantitative Trait Locus 11. |
GPR1 | GPR1 include Diabetes Mellitus, Insulin Dependent, 22, Products Bring this labeled protein directly to your bench! Product Overview : Human full length ORF recombinant protein without tag. |
FOXH1 | FOXH1 protein binds SMAD2 and activates an activin response element via binding the DNA motif TGT ATT, is used for rabbit immunization. |
CYP2U1 | CYP2U1 is used for rabbit immunization. |
EGFR | EGFR is a cell surface protein that binds to epidermal growth factor. |
CAMLG | CAMLG is used for rabbit immunization. |
ELAC2 | ELAC2 is used for rabbit immunization. |
EHF | EHF is used for rabbit immunization. |
APOBEC3B | APOBEC3B is used for rabbit immunization. |
AGGF1 | AGGF1 is used for rabbit immunization. |
F2RL2 | F2RL2 is used for rabbit immunization. |
ARCN1 | ARCN1 is used for rabbit immunization. |
APOBEC3G | APOBEC3G is used for rabbit immunization. |
IL12A | IL12A include Primary Biliary Cirrhosis and Behcet Syndrome. |
TTLL12 | TTLL12 T cell receptor is constructed for the engineering of T cell to target Tubulin tyrosine ligase like protein 12 restricted by HLA A2, include Acute Closed Angle Glaucoma and Orofaciodigital Syndrome Viii. |
HAPLN2 | HAPLN2 Products Bring this labeled protein directly to your bench! Product Overview : Human full length ORF recombinant protein with GST tag at N terminal. |
GTF3C5 | GTF3C5 include Cataract 31, Multiple Types, Products Bring this labeled protein directly to your bench! Product Overview : Human full length ORF recombinant protein with GST tag at N terminal. |
GPR157 | GPR157 include Schnyder Corneal Dystrophy, Products Bring this labeled protein directly to your bench! Product Overview : Human full length ORF recombinant protein with GST tag at N terminal. |
GPR65 | GPR65 include Gastric Cancer and Panic Disorder, full length ORF recombinant protein without tag. |
CLDN12 | CLDN12 is used for rabbit immunization. |
CLDN7 | CLDN7 is used for rabbit immunization. |
CHD2 | CHD2 is used for rabbit immunization. |
FXR2 | FXR2 is used for rabbit immunization. |
B4GALNT3 | B4GALNT3 is used for rabbit immunization. |
GALNT12 | GALNT12 is used for rabbit immunization. |
BPHL | BPHL is used for rabbit immunization. |
FBXL20 | FBXL20, are characterized by an approximately 40 amino acid F box motif, is used for rabbit immunization. |
ANTXR2 | ANTXR2 is used for rabbit immunization. |
CLCN7 | CLCN7 is used for rabbit immunization. |
CHEK1 | CHEK1 1 antibody with CPTC peptide 1 as the target antigen. |
MAPK3 | MAPK3 1 as primary Ab against MCF10A KRAS cell lysate. |
RPTOR | RPTOR 2 as primary Ab against MCF10A KRAS cell lysate. |
CCKAR | CCKAR include Gastrointestinal System Disease and Panic Disorder. |
FANCI | FANCI, FANCJ, FANCL, FANCM and FANCN, is used for rabbit immunization. |
ARFGAP3 | ARFGAP3 is used for rabbit immunization. |
COX4I1 | COX4I1 include Calvarial Hyperostosis and Exocrine Pancreatic Insufficiency. |
MYLPF | MYLPF full length ORF recombinant protein with GST tag at N terminal, include Distal Arthrogryposis and Myopathy, Centronuclear, 2. |
ESYT2 | ESYT2 include Short Rib Thoracic Dysplasia 8 With Or Without Polydactyly. |
BTG3 | BTG3 is used for rabbit immunization. |
ADAM30 | ADAM30 is used for rabbit immunization. |
EEF1E1 | EEF1E1 is used for rabbit immunization. |
BOD1 | BOD1 Products Bring this labeled protein directly to your bench! Product Overview : Human FAM44B full length ORF recombinant protein with GST tag at N terminal. |
FXYD7 | FXYD7 is used for rabbit immunization. |
HNF4G | HNF4G include Maturity Onset Diabetes Of The Young and Hyperuricemia, Products Bring this labeled protein directly to your bench! Product Overview : Human partial ORF recombinant protein with GST tag at N terminal. |
MOXD1 | MOXD1 Products Bring this labeled protein directly to your bench! Product Overview : Human full length ORF recombinant protein with GST tag at N terminal. |
AJAP1 | AJAP1 include Dental Caries and Breast Adenoma. |
AKAP8L | AKAP8L Products Bring this labeled protein directly to your bench! Product Overview : Human full length ORF recombinant protein with GST tag at N terminal, include Greenberg Dysplasia and Pelger Huet Anomaly. |
FMOD | FMOD is used for rabbit immunization. |
MYSM1 | MYSM1 Products Bring this labeled protein directly to your bench! Product Overview : Human full length ORF recombinant protein with GST tag at N terminal, include Bone Marrow Failure Syndrome 4 and Congenital Progressive Bone Marrow Failure B Cell Immunodeficiency Skeletal Dysplasia Syndrome. |
AP1M2 | AP1M2 is used for rabbit immunization. |
CYTH4 | CYTH4 is used for rabbit immunization. |
CYFIP2 | CYFIP2 include Epileptic Encephalopathy, Early Infantile, 65 and Undetermined Early Onset Epileptic Encephalopathy. |
CD19 | CD19 T cell receptor is constructed for the engineering of T cell to target Human . |
CBX4 | CBX4 include Brain Cancer and Fanconi Anemia, Complementation Group A, Products Bring this labeled protein directly to your bench! Product Overview : Human full length ORF recombinant protein with GST tag at N terminal. |
CBX8 | CBX8, show distinct nuclear localizations, contribute differently to transcriptional repression, and appear to be part of distinct PRC1 like protein complexes, Products Bring this labeled protein directly to your bench! Product Overview : Human full length ORF recombinant protein with GST tag at N terminal. |
STRIP2 | STRIP2 Products Bring this labeled protein directly to your bench! Product Overview : Human FAM40B full length ORF recombinant protein with GST tag at N terminal, include Monieziasis and Paralytic Lagophthalmos. |
IL17RD | IL17RD / SEF antibody was raised against nS0 derived rmIL 17 RD. |
AGL | AGL is used for rabbit immunization. |
ATP9A | ATP9A Products Bring this labeled protein directly to your bench! Product Overview : Human full length ORF recombinant protein with GST tag at N terminal, include Cholestasis, Benign Recurrent Intrahepatic, 1 and Robinow Syndrome, Autosomal Dominant 2. |
EXOC5 | EXOC5 is used for rabbit immunization. |
BANK1 | BANK1 is used for rabbit immunization. |
ECT2 | ECT2 is used for rabbit immunization. |
FMO5 | FMO5 is used for rabbit immunization. |
AGPAT3 | AGPAT3 is used for rabbit immunization. |
ARHGEF19 | ARHGEF19 accelerate the GTPase activity of Rho GTPases .[supplied by OMIM, Dec 2008] See more.., is used for rabbit immunization. |
CERK | CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation .[supplied by OMIM, Mar 2008] See more.., is used for rabbit immunization. |
CABLES1 | CABLES1 is used for rabbit immunization. |
CNIH3 | CNIH3 include Tarp Syndrome and Schizophrenia, Products Bring this labeled protein directly to your bench! Product Overview : Human full length ORF recombinant protein with GST tag at N terminal. |
ACY3 | ACY3 full length ORF recombinant protein with GST tag at N terminal, include Hepatitis C Virus and Canavan Disease. |
CMTM6 | CMTM6 is used for rabbit immunization. |
DNASE2B | DNASE2B is used for rabbit immunization. |
ASB6 | ASB6 is used for rabbit immunization. |
GALM | GALM is used for rabbit immunization. |
COX15 | COX15 is used for rabbit immunization. |
CLK4 | CLK4 is used for rabbit immunization. |
GALR1 | GALR1 inhibits adenylyl cyclase via a G protein of the Gi/Go family. |
COPZ2 | COPZ2 is used for rabbit immunization. |
FBXW9 | FBXW9, are characterized by an approximately 40 amino acid F box motif, is used for rabbit immunization. |
FANCB | FANCB is used for rabbit immunization. |
ENY2 | ENY2 Products Bring this labeled protein directly to your bench! Product Overview : Human full length ORF recombinant protein with GST tag at N terminal, include Arthrogryposis, Distal, Type 6 and Arthrogryposis, Distal, Type 7. |
AP3M1 | AP3M1 is used for rabbit immunization. |
DPT | DPT is used for rabbit immunization. |
ADAMTS18 | ADAMTS18 is used for rabbit immunization. |
DDX55 | DDX55 is used for rabbit immunization. |
BNC1 | BNC1 study guide by gummiedelano includes 283 questions covering vocabulary, terms and more, is used for rabbit immunization. |
GAL3ST4 | GAL3ST4 is used for rabbit immunization. |
AVPR2 | AVPR2 include Nephrogenic Syndrome Of Inappropriate Antidiuresis and Diabetes Insipidus, Nephrogenic, X Linked. |
ADAMTS14 | ADAMTS14 is used for rabbit immunization. |
PTEN | PTEN 1 as primary Ab against MCF10A KRAS cell lysate, is a multi functional tumor suppressor that is very commonly lost in human cancer. |
COQ7 | COQ7 is used for rabbit immunization. |
APLP1 | APLP1 is used for rabbit immunization. |
ADAMTS12 | ADAMTS12 is used for rabbit immunization. |
BCL2 | BCL2, such as in the case of translocation of to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. |
ATAD3A | ATAD3A is used for rabbit immunization. |
ABI2 | ABI2 include Anosognosia and Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2H. |
BASP1 | BASP1 is used for rabbit immunization. |
RELB | RELB include Immunodeficiency 53 and Rheumatoid Arthritis. |
MYH7 | MYH7 include Liang Distal Myopathy and Scapuloperoneal Syndrome, Myopathic Type. |
PTGER2 | PTGER2 include Asthma, Nasal Polyps, And Aspirin Intolerance and Deafness, Autosomal Dominant 17. |
BRS3 | BRS3 is used for rabbit immunization. |
APLNR | APLNR is used for rabbit immunization. |
MIDN | MIDN Products Bring this labeled protein directly to your bench! Product Overview : Human full length ORF recombinant protein with GST tag at N terminal, include Polyneuropathy Due To Drug and Inflammatory And Toxic Neuropathy. |
NPR2 | NPR2 contain five functional domains: an extracellular ligand binding domain, a single membrane spanning region, and intracellularly a protein kinase homology domain, a helical hinge region involved ... |
CHRM3 | CHRM3 is used for rabbit immunization. |
COL8A1 | COL8A1 is used for rabbit immunization. |
FAF2 | FAF2 is used for rabbit immunization. |
DIO3 | DIO3 is used for rabbit immunization. |
ATP6V0A1 | ATP6V0A1 is used for rabbit immunization. |
ANXA13 | ANXA13 is used for rabbit immunization. |
FOS | FOS 3 as primary Ab against recombinant . |
ANKRD1 | ANKRD1 is used for rabbit immunization. |
CYP2A13 | CYP2A13 include Acetaminophen Metabolism and Distal Muscular Dystrophy With Anterior Tibial Onset, is used for rabbit immunization. |
OSCP1 | OSCP1 include Nasopharyngeal Carcinoma. |
MLLT1 | MLLT1 include Acute Leukemia and Leukemia. |
MTOR | MTOR 4 as primary Ab against recombinant . |
DPPA3 | DPPA3 is used for rabbit immunization. |
CXXC1 | CXXC1 is used for rabbit immunization. |
B3GNT5 | B3GNT5 is used for rabbit immunization. |
CYSLTR1 | CYSLTR1 include Adenoid Hypertrophy and Asthma. |
ADCYAP1R1 | ADCYAP1R1 include Post Traumatic Stress Disorder and Persian Gulf Syndrome. |
OCA2 | OCA2 is used for rabbit immunization. |
CRHR2 | CRHR2 include Anxiety and Irritable Bowel Syndrome. |
COX11 | COX11 is used for rabbit immunization. |
CBX6 | CBX6, CBX7 and CBX8, show distinct nuclear localizations, contribute differently to transcriptional repression, and appear to be part of distinct PRC1 like protein complexes, Products Bring this labeled protein directly to your bench! Product Overview : Human full length ORF recombinant protein with GST tag at N terminal. |
FZD4 | FZD4 is used for rabbit immunization. |
CDH8 | CDH8 is used for rabbit immunization. |
RCOR2 | RCOR2 include Duane Radial Ray Syndrome. |
CNN1 | CNN1 include Infantile Digital Fibromatosis and Laryngeal Small Cell Carcinoma. |
DDX46 | DDX46 is used for rabbit immunization. |
CLCN6 | CLCN6 is used for rabbit immunization. |
ATP6V0B | ATP6V0B is used for rabbit immunization. |
CPA6 | CPA6 is used for rabbit immunization. |
ARFRP1 | ARFRP1 is used for rabbit immunization. |
PRKACA | PRKACA is studied in breast cancer and is found to mediate resistance to HER2 targeted therapies. |
HIPK3 | HIPK3 include Amyotrophic Lateral Sclerosis 1. |
THUMPD2 | THUMPD2 include Retinitis Pigmentosa 11. |
FGF13 | FGF13 is used for rabbit immunization. |
MTNR1B | MTNR1B include Diabetes Mellitus, Noninsulin Dependent and Idiopathic Scoliosis. |
DHX30 | DHX30 is used for rabbit immunization. |
CYP2C19 | CYP2C19 is used for rabbit immunization. |
FBXL6 | FBXL6 is used for rabbit immunization. |
GALE | GALE is used for rabbit immunization. |
APPBP2 | APPBP2 is used for rabbit immunization. |
DMWD | DMWD include Myotonic Dystrophy 1 and Corticosteroid Allergy. |
Drosophila CG10915 | Drosophila CG10915 is an uncharacterized protein coding gene with sequence similarity to human Cortactin binding protein 2 and Cortactin binding protein 2 N terminal like, that shows amino acid sequence similarity to CTTNBP2 and CTTNBP2NL. |
COQ2 | COQ2 is a protein coding gene that plays a part in CoQ10 biosynthesis, is used for rabbit immunization. |
SATL1 | SATL1 shows N acetyltransferase activity. |
DQX1 | DQX1 is a protein coding gene located on chromosome 2 and is classified as a member of the DEAD/H family. |
CERKL | CERKL gene, which, it turns out, is oddly not specific to my damaged retinas. |
RET | RET mutations and the fusion PTC lead to activation of this tyrosine kinase receptor and are associated with thyroid cancers.. |
SLFN11 | SLFN11 include Ewing Sarcoma and Lung Cancer. |
MYBL1 | MYBL1 include Adenoid Cystic Carcinoma and Cutaneous Adenocystic Carcinoma. |
PNPLA7 | PNPLA7, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli .[supplied by OMIM, Jun 2008] See more... |
KLRC3 | KLRC3 is a member of the NKG2 group is expressed primarily in natural killer cells. |
FLT3 | FLT3 is an important cytokine receptor involved in normal hematopoiesis. |
CADM1 | CADM1 include Retroperitoneal Fibrosis and Neuromyelitis Optica Spectrum Disorder. |
WT1 | WT1 is a tumor suppressor gene associated with the development of Wilms' Tumor, from which it was named. |
EDEM1 | EDEM1 include Achromatopsia 4 and Retinitis Pigmentosa. |
UQCRC1 | UQCRC1 include Leukodystrophy, Hypomyelinating, 4 and Alzheimer Disease. |
IVD | IVD results in an accumulation of isovaleric acid, is toxic to the central nervous system and leads to isovaleric acidemia. |
HSD17B11 | HSD17B11, metabolize secondary alcohols and ketones .[supplied by OMIM, Jun 2009] See more... |
SIRT3 | SIRT3 has far reaching effects on nuclear gene expression, cancer, cardiovascular disease, neuro... |
SLC15A3 | SLC15A3 include Hypotrichosis 4 and Diabetes Mellitus, Permanent Neonatal 4. |
FGFR1OP2 | FGFR1OP2 include Myeloid And Lymphoid Neoplasms Associated With Fgfr1 Abnormalities and Lymphoblastic Lymphoma. |
GPR148 | GPR148 include Cicatricial Entropion and Median Neuropathy. |
MRS2 | MRS2 include Large Congenital Melanocytic Nevus and Osteopetrosis, Autosomal Dominant 1. |
PDE1A | PDE1A, are Ca /calmodulin dependent PDEs that are activated by calmoduli... |
PXN | PXN include Neurofibromatosis, Type Ii and Breast Adenocarcinoma. |
LARGE2 | LARGE2 include Interstitial Myocarditis and Muscular Dystrophy Dystroglycanopathy, Type B, 6. |
ARVCF | ARVCF gene was isolated in the search for the genetic defect responsible for the autos... |
NPY2R | NPY2R include Cocaine Dependence and Nephronophthisis 4. |
AVEN | AVEN include Schizoid Personality Disorder and Alzheimer Disease Mitochondrial. |
CDC25A | CDC25A is required for progression from G1 to the S phase of the cell cycle. |
CDC25B | CDC25B activates the cyclin dependent kinase CDC2 by removing two phosphate groups and it is required for entry into mitosis. |
NOC2L | NOC2L represents a novel HDAC independent inhibitor of histone acetyltransferase .[supplied by OMIM, Mar 2008] See more... |
NPY | NPY include Eating Disorder and Adjustment Disorder. |
SCP2 | SCP2 protein, with the 2 proteins shar... |
IFNE | IFNE include Hirata Disease and Genital Herpes. |
GTSF1 | GTSF1 include Pityriasis Rubra Pilaris and Pediatric Germ Cell Cancer. |
B4GALNT2 | B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen .[supplied by OMIM... |
ASCL2 | ASCL2 is used for rabbit immunization. |
FMO1 | FMO1 found in fetal liver, FMO2 found in adult liver, and... |
POLR3H | POLR3H include 46,Xx Sex Reversal 1 and Infantile Cerebellar Retinal Degeneration. |
GBA2 | GBA2 is used for rabbit immunization. |
IQSEC3 | IQSEC3 include Periodontosis and Non Syndromic X Linked Intellectual Disability. |
CISH | CISH is used for rabbit immunization. |
SPON1 | SPON1 include Peters Plus Syndrome and Tremor, Hereditary Essential, 1. |
LGI4 | LGI4 include Arthrogryposis Multiplex Congenita, Neurogenic, With Myelin Defect and Arthrogryposis Multiplex Congenita, Neurogenic Type. |
ZBTB7A | ZBTB7A include Photosensitive Epilepsy and Lymphoma. |
LAMB1 | LAMB1 include Lissencephaly 5 and Pierson Syndrome. |
ASB4 | ASB4 is used for rabbit immunization. |
COPB2 | COPB2 .[supplied by OMIM, Jul 2002] See more... |
MYOC | MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid inducible response protein. |
AIFM3 | AIFM3 include Chromosome 6Q24 Q25 Deletion Syndrome and Streptococcal Meningitis. |
PORCN | PORCN is used for rabbit immunization. |
ARHGAP24 | ARHGAP24 is used for rabbit immunization. |
SLC28A1 | SLC28A1 include Uridine Cytidineuria and Acquired Immunodeficiency Syndrome. |
SURF1 | SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. |
IGKC | IGKC include Immunoglobulin Kappa Light Chain Deficiency and Plasma Cell Tumor. |
DNASE2 | DNASE2 is used for rabbit immunization. |
TMIGD2 | TMIGD2 is known as CD28H, IGPR1 and IGPR 1. |
CALCRL | CALCRL include Lymphatic Malformation 8 and Primary Angle Closure Glaucoma. |
CLCN1 | CLCN1 is used for rabbit immunization. |
SFRP4 | SFRP4 in ventricular myocardium correlates with apoptosis related gene expression. |
FUT8 | FUT8 is used for rabbit immunization. |
RBM24 | RBM24 include Smallpox and Atrial Septal Defect 2. |
FGD3 | FGD3 include Aarskog Scott Syndrome and Charcot Marie Tooth Disease, Type 4H. |
HHAT | HHAT include Chondrodysplasia Pseudohermaphroditism Syndrome and Ancylostomiasis. |
ADGRL1 | ADGRL1 include Vibratory Urticaria and Louping Ill. |
ADGRL4 | ADGRL4 include Epilepsy, Familial Temporal Lobe, 8 and Epilepsy, Familial Temporal Lobe, 2. |
CLGN | CLGN may play a role in spermatogeneisis and infertility. |
CCNY | CCNY, control cell division cycles and regulate cyclin dependent kinases .[supplied by OMIM, May 2009] See more... |
C8orf46 | C8orf46 Products Bring this labeled protein directly to your bench! Product Overview : Human full length ORF recombinant protein with GST tag at N terminal. |
GRAMD1A | GRAMD1A include Liver Sarcoma and Hepatocellular Carcinoma. |
PI4KB | PI4KB include Nonparalytic Poliomyelitis and Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease. |
EMILIN2 | EMILIN2 include Porokeratosis and Myopia. |
DBNL | DBNL include Cardiomyopathy, Dilated, 1P and Glycogen Storage Disease. |
SLC36A4 | SLC36A4 is a high affinity/low capacity non proton coupled amin... |
RUNX1 | RUNX1 is a transcription factor that forms a complex with the cofactor CBFB. |
PHYHIP | PHYHIP include Refsum Disease, Classic. |
ATP5A1 | ATP5A1 or ATP5F1A is a Protein Coding gene. |
SCML4 | SCML4 include Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 and Yunis Varon Syndrome. |
CDK12 | CDK12 include Corneal Endothelial Dystrophy and Gastric Cancer. |
PPP3R1 | PPP3R1 include Gallbladder Small Cell Carcinoma and Deafness, Autosomal Dominant 58. |
INPP5J | INPP5J include Lowe Oculocerebrorenal Syndrome and Exudative Vitreoretinopathy 1. |
MPC1 | MPC1 /MPC2 heterodimer that is responsible for transporting pyruvate into mitochondria. |
S100A8 | S100A8 is known as P8, MIF, NIF, CAGA, CFAG, CGLA, L1Ag, MRP8, CP 10, MA387 and 60B8AG. |
NACA2 | NACA2 include Scleral Staphyloma and Melon Allergy. |
ORMDL3 | ORMDL3 include Asthma and Inflammatory Bowel Disease 22. |
KIF13B | KIF13B include Spastic Paraplegia 37, Autosomal Dominant and Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability. |
ZNF668 | ZNF668 include Nodular Malignant Melanoma. |
PGM2 | PGM2 include Melnick Needles Syndrome and Otopalatodigital Syndrome Spectrum Disorder. |
NME4 | NME4 .[supplied by OMIM, May 2008] See more... |
NCKAP1 | NCKAP1 include Nance Horan Syndrome and Autism Spectrum Disorder. |
CMTM8 | CMTM8 is used for rabbit immunization. |
NME3 | NME3 include Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive and Nephronophthisis. |
ODAM | ODAM include Dental Fluorosis and Bone Benign Neoplasm. |
CC2D1A | CC2D1A include Autosomal Recessive Non Syndromic Intellectual Disability and Acute Kidney Tubular Necrosis. |
USP40 | USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes .[supplied by OMIM, Mar 2008] See more... |
NEPRO | NEPRO include Anauxetic Dysplasia 1 and Hyperhidrosis, Gustatory. |
NBEAL1 | NBEAL1 include Amyotrophic Lateral Sclerosis 2, Juvenile and Ovary Serous Adenocarcinoma. |
PID1 | PID1 include Pelvic Inflammatory Disease. |
PLXDC1 | PLXDC1 include Mulchandani Bhoj Conlin Syndrome. |
CEP162 | CEP162 include Seckel Syndrome 7 and Orofaciodigital Syndrome Ix. |
DNER | DNER include Impulse Control Disorder and Kleptomania. |
CACHD1 | CACHD1 include Cercarial Dermatitis and 46,Xy Sex Reversal 8. |
ELF2 | ELF2 include Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome. |
IFIT5 | IFIT5 include Chronic Interstitial Cystitis and Benign Familial Neonatal Epilepsy. |
MPC2 | MPC2 include Colon Mucinous Adenocarcinoma and Pyruvate Dehydrogenase E1 Alpha Deficiency. |
INO80C | INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, MYST1/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. |
MUC13 | MUC13, are a family of secreted and cell surface glycoproteins expressed by ductal and glandular epithelial tissues .[supplied by OMIM, Jul 2008] See more... |
RLF | RLF include Left Ventricular Noncompaction. |
FZD1 | FZD1 protein contains a signal peptide, a cysteine rich domain in the N terminal extracellular region, 7 transmembrane domains, and a C terminal PDZ domain binding motif. |
FZD5 | FZD5 protein is believed to be the receptor for the Wnt5A ligand. |
ITLN1 | ITLN1 include Pleuropneumonia and Portal Vein Thrombosis. |
FZD9 | FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the gene may contribute to the Williams syndrome phenotype. |
XPC | XPC complex, which plays an important role in the early steps of global genome nucleotide excision repair. |
DVL1 | DVL1 is a candidate gene for neuroblastomatous transformation. |
ELL | ELL include Leukemia and Childhood Leukemia. |
CXCL16 | CXCL16 Products Bring this labeled protein directly to your bench! Product Overview : Human full length ORF recombinant protein with GST tag at N terminal. |
ZSCAN21 | ZSCAN21 include Retinitis Pigmentosa 58. |
CGAS | CGAS include Herpes Simplex and Sting Associated Vasculopathy With Onset In Infancy. |
PIK3CA | PIK3CA is the most recurrently mutated gene in breast cancer, and is found to important in a number of cancer types. |
PCP2 | PCP2 include Atrial Tachyarrhythmia With Short Pr Interval. |
FAT3 | FAT3 include Spinocerebellar Ataxia 45 and Van Maldergem Syndrome. |
PALM3 | PALM3 include Median Neuropathy and Leopard Syndrome 1. |
UBA2 | UBA2 form a heterodimer that functions as a SUMO activating enzyme for the sumoylation of proteins .[supplied by OMIM, Mar 2010] See more... |
FABP9 | FABP9 include Esophagus Carcinoma In Situ. |
TFEB | TFEB include Renal Cell Carcinoma, Xp11 Associated and Pycnodysostosis. |
PUSL1 | PUSL1 include Myopathy, Lactic Acidosis, And Sideroblastic Anemia. |
OVCA2 | OVCA2 include Chromosome 17P13.3, Centromeric, Duplication Syndrome and Ovarian Cancer. |
RAMP1 | RAMP1 include Migraine With Or Without Aura 1. |
FEZF2 | FEZF2 include Uterine Inversion and Thymic Dysplasia. |
FOXB1 | FOXB1 include Thiamine Deficiency Disease and Wernicke Korsakoff Syndrome. |
DHRSX | DHRSX include Partington X Linked Mental Retardation Syndrome. |
OLIG3 | OLIG3 include Central Hypoventilation Syndrome, Congenital. |
TCTE1 | TCTE1 include Meningocele and Rigid Spine Muscular Dystrophy 1. |
HMX3 | HMX3 include Superior Semicircular Canal Dehiscence and Semicircular Canal Dehiscence Syndrome. |
HSF4 | HSF4 lacks the carboxyl terminal hydrophobic repeat is shared among all vertebrate HSFs and is suggested to be involved in the negative regulation of DNA binding activity. |
NANOS2 | NANOS2 include Spermatocytoma and Spermatogenic Failure, X Linked, 1. |
FRS2 | FRS2 include Rete Testis Adenoma and Well Differentiated Liposarcoma. |
TUBA1C | TUBA1C include Distal Hereditary Motor Neuronopathy Type 2 and Alzheimer Disease. |
CST7 | CST7 is used for rabbit immunization. |
GARS | GARS is used for rabbit immunization. |
CA6 | CA6 is used for rabbit immunization. |
IFIT3 | IFIT3 include Lupus Erythematosus and Systemic Lupus Erythematosus. |
CLDN10 | CLDN10 is used for rabbit immunization. |
DBX1 | DBX1 include Central Hypoventilation Syndrome, Congenital. |
XAB2 | XAB2 include Choroid Plexus Meningioma and Cockayne Syndrome. |
CLDND1 | CLDND1 include Renal Cell Carcinoma, Nonpapillary and Breast Cancer. |
PRDM12 | PRDM12 include Neuropathy, Hereditary Sensory And Autonomic, Type Viii and Factitious Disorder. |
MYMK | MYMK include Carey Fineman Ziter Syndrome and Muscle Hypertrophy. |
GALNT1 | GALNT1 is used for rabbit immunization. |
BACH2 | BACH2 include Immunodeficiency 60 and Leukemia, Chronic Myeloid. |
CCDC93 | CCDC93 include Ritscher Schinzel Syndrome and Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma. |
LPL | LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor mediated lipoprotein uptake. |
MELK | MELK include Colorectal Cancer and Glioblastoma Multiforme. |
RRP1B | RRP1B include Microinvasive Gastric Cancer and Laryngeal Squamous Cell Carcinoma. |
KLF15 | KLF15 include Aortic Aneurysm and Muscle Hypertrophy. |
DLC1 | DLC1 is used for rabbit immunization. |
MLKL | MLKL include Caspase 8 Deficiency and Inflammatory Bowel Disease. |
UBXN6 | UBXN6 include Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia and Multisystem Proteinopathy. |
DUSP13 | DUSP13 is used for rabbit immunization. |
RAB38 | RAB38 include Oculocutaneous Albinism and Hermansky Pudlak Syndrome. |
DAPK1 | DAPK1 encodes a structurally unique 160 kD calmodulin dependent serine threonine kinase that carries 8 ankyrin repeats and 2 putative P loop consensus sites. |
DAPK3 | DAPK3 may play a role in the induction of apoptosis. |
NFIB | NFIB include Macrocephaly, Acquired, With Impaired Intellectual Development and Alacrima, Achalasia, And Mental Retardation Syndrome. |
FAIM2 | FAIM2 include Ventilation Pneumonitis and Obsessive Compulsive Disorder. |
BAP1 | BAP1 is a deubiquitylase thought to be a key regulator of many cancer associated pathways. |
RIPK1 | RIPK1 /RIPK3 kinase mediated necrosis is referred to as necroptosis. |
SV2C | SV2C include Foodborne Botulism and Alcohol Related Birth Defect. |
RNF220 | RNF220 Products Bring this labeled protein directly to your bench! Product Overview : Human FLJ10597 partial ORF recombinant protein with GST tag at N terminal. |
SPIDR | SPIDR include 46,Xx Sex Reversal 1 and Gonadal Dysgenesis. |
PHF19 | PHF19 include Hereditary Lymphedema and Hereditary Lymphedema I. |
PDXDC1 | PDXDC1 include Autosomal Recessive Nonsyndromic Deafness 32 and Fetal Akinesia Deformation Sequence 1. |
CSN1S1 | CSN1S1 include Milk Allergy and Food Allergy. |
SEMA6A | SEMA6A is expressed in developing neural tissue and is required for proper development of the thalamocortical projection .[supplied by OMIM, Feb 2011] See more... |
THAP9 | THAP9 include Central Nervous System Tuberculosis. |
LDHC | LDHC is testis specific and belongs to the lactate dehydrogenase family. |
TEF | TEF expression appears to be restricted to the developing anterior pituitary gland, coincident with the appearance of thyro... |
C6orf203 | C6orf203 Products Bring this labeled protein directly to your bench! Product Overview : Human full length ORF recombinant protein with GST tag at N terminal. |
NOL11 | NOL11 include Bowen Conradi Syndrome and Treacher Collins Syndrome 1. |
GML | GML include Ainhum and Yunis Varon Syndrome. |
ZNF341 | ZNF341 include Hyper Ige Recurrent Infection Syndrome 3, Autosomal Recessive and Hyper Ige Recurrent Infection Syndrome 3. |
PDGFRA | PDGFRA kinase domain are highly correlated with eosinophilia, and the WHO classifies myeloid and lymphoid neoplasms with these characteristics as a distinct disorder. |
NPAT | NPAT include Ataxia Telangiectasia and Keratomalacia. |
GPR35 | GPR35 include Cholangitis, Primary Sclerosing and Short Rib Thoracic Dysplasia 10 With Or Without Polydactyly. |
CKAP4 | CKAP4 include Interstitial Cystitis and Cystitis. |
PAF1 | PAF1 complex interacts with RNA polymerase II and plays a role in transcription elongation as well as histone modifications including ubiquitylation and methylation. |
ARFGEF3 | ARFGEF3 include Hermansky Pudlak Syndrome 3 and Granular Cell Carcinoma. |
EBF1 | EBF1 include Plasmacytoma and Breast Abscess. |
LMF1 | LMF1 include Lipase Deficiency, Combined and Hyperlipoproteinemia, Type I. |
BOP1 | BOP1 include Diamond Blackfan Anemia. |
IFNA17 | IFNA17 include Anterior Dislocation Of Lens and Neurodegeneration With Brain Iron Accumulation 6. |
ZNF133 | ZNF133 include Corneal Endothelial Dystrophy and Corneal Dystrophy, Posterior Polymorphous, 1. |
CARF | CARF include Amyotrophic Lateral Sclerosis 2, Juvenile. |
ZNF251 | ZNF251 include Renal Cell Carcinoma, Papillary, 1. |
GCGR | GCGR include Gcgr Related Hyperglucagonemia and Diabetes Mellitus, Noninsulin Dependent. |
ZNF268 | ZNF268 include Cervical Cancer and Ring Dermoid Of Cornea. |
ZNF766 | ZNF766 include Fanconi Anemia, Complementation Group B. |
PGM5 | PGM5, are phosphotransferases involved in interconversion of glucose 1 phosphate and glucose 6 phosphate. |
ABHD14B | ABHD14B include Hypotonia Cystinuria Syndrome. |
NPM1 | NPM1 is a provisional entity in the WHO classification of AML and is recommended to be tested in patients with cytogenetically normal AML. |
ALAD | ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta aminolevulinate to form porphobilinogen. |
PLAG1 | PLAG1, is developmentally regulated, is shown to be consistently rearranged in pleomorphic adenomas of the salivary glands. |
ZXDB | ZXDB gene is one of a pair of duplicated zinc finger genes on chromosome Xp11.21 ; see also ZXDA .[supplied by OMIM, Jul 2010] See more... |
CLEC1B | CLEC1B include Bleeding Disorder, Platelet Type, 11 and Human Immunodeficiency Virus Type 1. |
KIF20A | KIF20A include Familial Isolated Restrictive Cardiomyopathy and Charcot Marie Tooth Disease, Type 4C. |
ABRA | ABRA include Granulomatous Angiitis and Superficial Mycosis. |
HORMAD2 | HORMAD2 include Nephrotic Syndrome, Type 7 and Autoimmune Glomerulonephritis. |
PHF6 | PHF6 include Borjeson Forssman Lehmann Syndrome and Gynecomastia. |
NIP7 | NIP7 include Robinow Syndrome, Autosomal Dominant 1 and Shwachman Diamond Syndrome 1. |
TXK | TXK include Agammaglobulinemia and Behcet Syndrome. |
DSEL | DSEL include Temtamy Preaxial Brachydactyly Syndrome and Microphthalmia. |
ARID2 | ARID2 include Coffin Siris Syndrome 6 and Coffin Siris Syndrome 1. |
ZC3H8 | ZC3H8 include Retinitis Pigmentosa 38 and Cardiomyopathy, Familial Restrictive, 3. |
AQP11 | AQP11 include Diabetes Insipidus, Nephrogenic, Autosomal and Failure Of Tooth Eruption, Primary. |
ARHGAP19 | ARHGAP19, encode negative regulators of Rho GTPases, is involved in cell migration, proliferation, and differentiation, actin remodeling, and G1 cell cycle progression .[supplied by OMIM, Mar 2008] S... |
ANGPTL6 | ANGPTL6 include Familial Cerebral Saccular Aneurysm and Myasthenic Syndrome, Congenital, 6, Presynaptic. |
NFE2L1 | NFE2L1, and for "nuclear respiratory factor 1" which has an official symbol of NRF1. |
ANKS4B | ANKS4B include Usher Syndrome, Type I and Usher Syndrome. |
CA5B | CA5B is used for rabbit immunization. |
COPS2 | COPS2 include Xeroderma Pigmentosum, Complementation Group E and Persistent Hyperplastic Primary Vitreous. |
CTRB1 | CTRB1 is located next to a related chymotrypsinogen gene, is used for rabbit immunization. |
CNN3 | CNN3 is used for rabbit immunization. |
AUP1 | AUP1 is used for rabbit immunization. |
FANCM | FANCM is used for rabbit immunization. |
SMAD3 | SMAD3 protein functions in the transforming growth factor beta signaling pathway, and transmits signals from the cell surface to the nucleus, regulating gene activity and ... |
EWSR1 | EWSR1 and multiple 3` partners are regularly identified in soft tissue sarcomas and can aid in differential diagnosis. |
DDIT4 | DDIT4 include Bladder Urothelial Carcinoma and Tuberous Sclerosis 1. |
AK6 | AK6 and TAF9 are two distinct genes that share 5' exons. |
ENOX1 | ENOX1 is used for rabbit immunization. |
RAB1B | RAB1B, are low molecular mass monomeric GTPases localized on the cytoplasmic surfaces of distinct membrane bound organelles. |
AHSA1 | AHSA1 include Stomatitis and Amyotrophic Lateral Sclerosis 1. |
IQCE | IQCE include Polydactyly, Postaxial, Type A7 and Polydactyly, Postaxial, Type A1. |
CLCF1 | CLCF1 forms a heterodimer complex with cytokine receptor like factor 1. |
MXRA8 | MXRA8 include Chikungunya and Ross River Fever. |
POLM | POLM include Xeroderma Pigmentosum, Variant Type and Burkitt Lymphoma. |
PPP1R14D | PPP1R14D is a PP1 inhibitor that itself is regulated by phosphorylation .[supplied by OMIM, Feb 2010] See more... |
ERCC2 | ERCC2 functions as a DNA repair gene involved in separating the double helix via 5’ 3’ helicase activity. |
PRKAR1A | PRKAR1A include Myxoma, Intracardiac and Carney Complex, Type 1. |
SPINK13 | SPINK13 include Plasminogen Deficiency, Type I. |
BSX | BSX include Jacobsen Syndrome and Sjogren Larsson Syndrome. |
EXOSC5 | EXOSC5 include Cat Scratch Disease and Pontocerebellar Hypoplasia, Type 1B. |
ZC3H12D | ZC3H12D include Follicular Lymphoma and Lymphoma. |
PIFO | PIFO include Short Rib Thoracic Dysplasia 14 With Polydactyly and Orofaciodigital Syndrome I. |
GADD45G | GADD45G is highly expressed in placenta. |
TRAF7 | TRAF7, are signal transducers for members of the TNF receptor superfamily. |
ZSCAN4 | ZSCAN4 gene encodes a protein involved in telomere maintenance and with a key role in the critical feature of mouse embryonic stem cells, namely, defying cellular senescence and maintaining normal ka... |
ZNF350 | ZNF350 include Breast Medullary Carcinoma and Gastric Cardia Carcinoma. |
LRP3 | LRP3 include 3 Methylglutaconic Aciduria, Type I. |
PTMS | PTMS include Muscular Dystrophy, Congenital, Lmna Related and Hyperoxaluria, Primary, Type I. |
TMEM65 | TMEM65 include Leigh Syndrome, French Canadian Type and Mitochondrial Myopathy. |
PTGS2 | PTGS2, which differ in their regulation of expression and tissue distribution. |
ATP13A4 | ATP13A4 include Specific Language Impairment and Combined Oxidative Phosphorylation Deficiency 23. |
TAL1 | TAL1 include Precursor T Cell Acute Lymphoblastic Leukemia and Childhood T Cell Acute Lymphoblastic Leukemia. |
ADGRF2 | ADGRF2 is not autoproteolyzed at the GPS motif because of the lack of a consensus catalytic triad sequence within GPS domain. |
MECP2 | MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl CpG binding domain. |
ALDH3A1 | ALDH3A1 include Conjunctival Degeneration and Sjogren Larsson Syndrome. |
LHPP | LHPP include Melancholia and Major Depressive Disorder. |
UNC5D | UNC5D include Localized Chondrosarcoma and Anisometropia. |
SLIT1 | SLIT1 include Hepatic Adenomas, Familial and Diaphragm Disease. |
RFWD3 | RFWD3 include Fanconi Anemia, Complementation Group W and Fanconi Anemia, Complementation Group A. |
CCAR2 | CCAR2 include Breast Cancer and Brain Cancer. |
SMYD2 | SMYD2, catalyze lysine methylation .[supplied by OMIM, Nov 2008] See more... |
G6PD | G6PD is remarkable for its genetic diversity. |
VSIR | VSIR include Ichthyosis, Congenital, Autosomal Recessive 6 and Monckeberg Arteriosclerosis. |
ZFPM1 | ZFPM1 include Thrombocytopenia 1 and Dyserythropoietic Anemia And Thrombocytopenia. |
DNAH2 | DNAH2 is an axonemal inner arm dynein heavy chain .[supplied by OMIM, Ma... |
ERBB4 | ERBB4 have been identified in various cancer types including melanoma, lung adenocarcinoma and medulloblastoma. |
PDHA2 | PDHA2 include Spermatogenic Failure 1. |
USE1 | USE1 include Anteroseptal Myocardial Infarction and Childhood Malignant Schwannoma. |
TLE1 | TLE1 include Glomus Tumor and Tibial Adamantinoma. |
ZNF217 | ZNF217 include Ovarian Cystadenocarcinoma and Ovarian Serous Cystadenocarcinoma. |
LTB4R | LTB4R include Specific Language Impairment and Asthma. |
MRTFB | MRTFB include Chondroid Lipoma and Extraskeletal Chondroma. |
PLAA | PLAA include Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies and Conjugate Gaze Palsy. |
UNK | UNK include Thalamic Neoplasm and Bestiality. |
GPC2 | GPC2 include Omodysplasia and Hereditary Multiple Exostoses. |
GRK1 | GRK1 are known to cause Oguchi disease 2. |
DHRS3 | DHRS3, catalyze the oxidation/reduction of a wide range of substrates, including retinoids and steroids .[supplied by OMIM, Jun 2009] See more... |
RAD1 | RAD1 7 to affected sites where it may attract specialized DNA polymerases and other DNA repair effectors. |
CUBN | CUBN may play a role in autosomal recessive megaloblastic anemia. |
PDXP | PDXP .[supplied by OMIM, Mar 2008] See more... |
PERP | PERP include Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques and Ankyloblepharon Ectodermal Defects Cleft Lip/Palate. |
ABL1 | ABL1 is most relevant to cancer in its role in the BCR ABL fusion protein that has become a signature of chronic myeloid leukemia. |
OTOP2 | OTOP2 include Usher Syndrome and Colorectal Cancer. |
EIF4A2 | EIF4A2 include Ovary Sarcoma and Noonan Syndrome 6. |
RPRM | RPRM include Gastric Adenocarcinoma and Breast Cancer. |
EDC4 | EDC4 include Human Granulocytic Anaplasmosis and Anteroseptal Myocardial Infarction. |
PDZD11 | PDZD11 include Purulent Acute Otitis Media and Middle Ear Disease. |
DCPS | DCPS include Al Raqad Syndrome and Autosomal Recessive Non Syndromic Intellectual Disability. |
PGLYRP1 | PGLYRP1 include Spherocytosis, Type 2 and Mite Infestation. |
EXOSC4 | EXOSC4 include Lipodystrophy, Familial Partial, Type 3 and Maturity Onset Diabetes Of The Young. |
CNOT1 | CNOT1 include Holoprosencephaly 12 With Or Without Pancreatic Agenesis and Pancreatic Agenesis Holoprosencephaly Syndrome. |
CNOT3 | CNOT3 include Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies and Precursor T Cell Acute Lymphoblastic Leukemia. |
NPM2 | NPM2 include Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant. |
IGSF10 | IGSF10 include Duodenal Somatostatinoma and Kallmann Syndrome. |
IGHE | IGHE include Toxocariasis and Latex Allergy. |
EPS15L1 | EPS15L1 include Isolated Split Hand Split Foot Malformation and Split Hand/Foot Malformation 6. |
TMEM135 | TMEM135 include Melanoma, Cutaneous Malignant 1. |
FCHSD2 | FCHSD2 include Erythematosquamous Dermatosis. |
BRD9 | BRD9 include Melkersson Rosenthal Syndrome and Chronic Dacryoadenitis. |
VGLL4 | VGLL4 include Meningioma, Familial and Wilson Turner X Linked Mental Retardation Syndrome. |
GABARAPL2 | GABARAPL2 include Neuronal Ceroid Lipofuscinosis and Alzheimer Disease 13. |
RALGDS | RALGDS, are effectors of Ras related GTPases that participate in signaling for a variety of cellular processes.[supplied by OMIM, Nov 2010] See more... |
MEX3D | MEX3D include Hemophagocytic Lymphohistiocytosis, Familial, 1 and Hemophagocytic Lymphohistiocytosis, Familial, 2. |
SUSD3 | SUSD3 include Aarskog Scott Syndrome. |
WWTR1 | WWTR1 include Epithelioid Hemangioendothelioma and Histiocytoid Hemangioma. |
FXYD4 | FXYD4, originally named CHIF for channel inducing factor, ha... |
MYBPC3 | MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. |
TRIM72 | TRIM72 include Miyoshi Muscular Dystrophy and Autosomal Recessive Limb Girdle Muscular Dystrophy Type 2B. |
ATP10D | ATP10D include Cholestasis, Benign Recurrent Intrahepatic, 1 and Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1. |
E2F7 | E2F7, play an essential role in the regulation of cell cycle progression .[supplied by OMIM, May 2008] See more... |
ATP2C2 | ATP2C2 include Specific Language Impairment and Dyslexia. |
ZNF519 | ZNF519 include Nail Disorder, Nonsyndromic Congenital, 4 and Dyggve Melchior Clausen Disease. |
ZNF528 | ZNF528 include Spiradenoma and Apocrine Sweat Gland Neoplasm. |
IFNA7 | IFNA7 include Acute Hemorrhagic Conjunctivitis. |
ZNF665 | ZNF665 include Fraser Syndrome 1 and Cri Du Chat Syndrome. |
ZNF670 | ZNF670 include Cataract 48 and Vitreous Disease. |
CD34 | CD34 is a Protein Coding gene and is predominantly regarded as a marker of hematopoietic stem cells and hematopoietic progenitor cells. |
ZNF764 | ZNF764 include Thyroid Hormone Resistance, Generalized, Autosomal Dominant and Hypertrophy Of Breast. |
FAM126A | FAM126A is used for rabbit immunization. |
APOBEC2 | APOBEC2 include Immunodeficiency With Hyper Igm, Type 2. |
ACAP2 | ACAP2 include Tethered Spinal Cord Syndrome. |
FABP6 | FABP6 is used for rabbit immunization. |
FKBP4 | FKBP4 include In Situ Carcinoma and Ocular Hypertension. |
ALKBH8 | ALKBH8 include Intellectual Developmental Disorder, Autosomal Recessive 71 and Autosomal Recessive Non Syndromic Intellectual Disability. |
ADGRG7 | ADGRG7 include Fibrogenesis Imperfecta Ossium. |
WLS | WLS include Mental Retardation With Language Impairment And With Or Without Autistic Features and Focal Dermal Hypoplasia. |
CHMP1B | CHMP1B is used for rabbit immunization. |
DDX24 | DDX24 is used for rabbit immunization. |
IFT46 | IFT46 include Short Rib Thoracic Dysplasia 3 With Or Without Polydactyly and Short Rib Thoracic Dysplasia 12. |
MPST | MPST include Mercaptolactate Cysteine Disulfiduria and Cyanide Poisoning. |
CHMP7 | CHMP7 include Cerebellar Ataxia Type 48 and Attention Deficit Hyperactivity Disorder. |
FOXJ2 | FOXJ2 include Cardiomyopathy, Familial Hypertrophic, 3. |
GNG7 | GNG7 include Keratinizing Squamous Cell Carcinoma and Esophageal Cancer. |
EDEM2 | EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins .[supplied by OMIM, Mar 2008] See more... |
TLE2 | TLE2 include Olfactory Groove Meningioma and Anterior Cranial Fossa Meningioma. |
SIM1 | SIM1 transcript was detected only in fetal kidney out of various adult and fetal tissues tested. |
AMIGO2 | AMIGO2 include Parkinson Disease 8, Autosomal Dominant and Gastric Adenocarcinoma. |
ALK | ALK amplifications, fusions and mutations have been shown to be driving events in non small cell lung cancer. |
NR2F6 | NR2F6 include Patulous Eustachian Tube and Chronic Purulent Otitis Media. |
CYBB | CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease. |
TGFBR3 | TGFBR3, which may inhibit TGFB signaling. |
IGFBP5 | IGFBP5 include Insulin Like Growth Factor I and Renal Osteodystrophy. |
LRP1B | LRP1B is a putative tumor suppressor and a member of the low density lipoprotein receptor family. |
RBM25 | RBM25 include Atrial Septal Defect 9. |
TPX2 | TPX2 include Colorectal Cancer and Capillary Leak Syndrome. |
DACT3 | DACT3 include Spastic Paraparesis and Placenta Praevia. |
PMAIP1 | PMAIP1 include Adult T Cell Leukemia and Mantle Cell Lymphoma. |
ATP11C | ATP11C include Hemolytic Anemia, Congenital, X Linked and Congenital Hemolytic Anemia. |
DUSP18 | DUSP18 contains the consensus DUSP C terminal ... |
PRTN3 | PRTN3 include Granulomatosis With Polyangiitis and Vasculitis. |
ULK1 | ULK1 include Huntington Disease and Acute Laryngopharyngitis. |
ELF3 | ELF3 include Sarcoma, Synovial and Ampulla Of Vater Cancer. |
RAC1 | RAC1 P29S mutation is the third most common protein coding hotspot mutation in melanomas, ocurring in 4 9%. |
ROS1 | ROS1 is a receptor tyrosine kinase that is frequently involved in genetic rearrangement in a variety of human cancers. |
PWP2 | PWP2 include Autosomal Dominant Non Syndromic Intellectual Disability 1 and Progressive Myoclonus Epilepsy. |
FZD7 | FZD7 protein contains an N terminal signal sequence, 10 cysteine residues typical of the cysteine rich extracellular domain of Fz family members, 7 putative transmembrane domains, and an intracellula... |
OMD | OMD include Oromandibular Dystonia and Occult Macular Dystrophy. |
CYB561 | CYB561 include Orthostatic Hypotension 2 and Dopamine Beta Hydroxylase Deficiency. |
CFAP70 | CFAP70 include Spermatogenic Failure 41 and Non Syndromic Male Infertility Due To Sperm Motility Disorder. |
CDK4 | CDK4, along with its partner CDK6, are key players in cell cycle progression. |
GFY | GFY include Hydrolethalus Syndrome 1 and External Ear Disease. |
PTPMT1 | PTPMT1 include Cogan Syndrome and Mitochondrial Complex Ii Deficiency. |
SUB1 | SUB1 include Atrial Septal Defect 4 and Indolent Systemic Mastocytosis. |
AFAP1L1 | AFAP1L1 include Freemartinism and Spindle Cell Sarcoma. |
ABI3BP | ABI3BP include Agnathia Otocephaly Complex and Mood Disorder. |
HECTD4 | HECTD4 include Plantar Fasciitis and Heel Spur. |
CTCF | CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger domains. |
CYP1A1 | CYP1A1, encodes a member of the cytochrome P450 superfamily of enzymes. |
DCAF13 | DCAF13, FAM163A, LRP10, SGCB, and S100A9 were expressed at low levels. |
LSMEM1 | LSMEM1 Polyclonal Antibody from Thermo Fisher Scientific, catalog # PA5 65488, RRID AB_2664076. |
Ren1 | Ren1 is a protein coding gene with aa residues in humans and it forms an aspartyl protease that has high specificity on AGT .Renin cleaves Ang I from AGT and the cleavage specificity is determined by... |
S100A4 | S100A4 is known as 42A, 18A2, CAPL, FSP1, MTS1, P9KA and PEL98. |
TAR1 | TAR1 is a protein coding gene situated antisense to the 25S rRNA in S. |
TREML4 | TREML4 include Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1. |
AKAP5 | AKAP5 signaling complexes in excitable cells. |
ELP4 | ELP4, Elongator Acetyltransferase Complex Subunit 4, hELP4, PAX6 neighbor gene protein, C11orf19, PAXNEB, dJ68P15A.1, PAX6NEB. |
Filaggrin | Filaggrin is a medically important protein coding gene, associated with dermatitis, atopic, ichthyosis vulgaris, and other conditions. |
CXCL5 | CXCL5 is a protein coding gene that is a part of the CXC subfamily of chemokines. |
Cdkn1c | Cdkn1c is a protein coding gene that encodes a cyclin dependent kinase inhibitor that acts as a negative regulator of cell proliferation, effectively making cdkn1c a tumor suppressor gene. |
PML | PML is known as MYL, RNF71, PP8675 and TRIM19, RARA fusion is the result of a recurrent, balanced translocation between chromosomes 15 and 17, denoted as t, and a diagnostic event in acute promyelocytic leukemia. |
XCL2 | XCL2 is known as SCM1B, SCYC2 and SCM 1b. |
SIRPG | SIRPG is known as CD172g, SIRPB2, SIRP B2, bA77C3.1, and SIRPgamma. |
COI | COI phylogeny of the five newly discovered European populations that all fit the general original description of R. |
Because COI | Because COI is a protein coding gene, we tested if the likelihood of models could be further improved by incorporating specific rates for each codon position [39]. |
EGR4 | EGR4, in a site located in the 3′ untranslated region in the second exon. |
MSTO1 | MSTO1 include Myopathy, Mitochondrial, And Ataxia and Mitochondrial Complex Iii Deficiency, Nuclear Type 2. |
SERPINB3 | SERPINB3 is a papain like cysteine protease inhibitor which modulates the host immune response versus tumor cells. |
ARMC8 | ARMC8 include Marinesco Sjogren Syndrome. |
COL1A2 | COL1A2, is a protein coding gene that signals synthesis of type I collagen. |
CCR10 | CCR10 is used for rabbit immunization. |
LIN52 | LIN52, LIN54, MYBL1, MYBL2, RBL1, RBL2, RBBP4, TFDP1 and TFDP2. |
Chemokine ligand 13 | Chemokine ligand 13, is a protein coding gene found in the human body. |
NDRG3 | NDRG3, N myc downstream regulated gene 3 protein, N Myc Downstream Regulated 3. |
SDR | SDR is a protein coding gene and its exact function is unknown. |
ADHFE1 | ADHFE1 gene encodes hydroxyacid oxoacid transhydrogenase, is responsible for the oxidation of 4 hydroxybutyrate in mammalian tissues .[supplied by OMIM, Mar 2008] See more... |
AEN | AEN include Cephalosporin Allergy and Volvulus Of Midgut. |
AGBL2 | AGBL2 include Cataract 31, Multiple Types and Cardiofaciocutaneous Syndrome 2. |
ALG10B | ALG10B include Long Qt Syndrome 2 and Long Qt Syndrome. |
AMBRA1 | AMBRA1 include Gastric Tubular Adenocarcinoma and Vici Syndrome. |
ANKLE1 | ANKLE1 include Patellofemoral Pain Syndrome and Legionnaire Disease. |
ANP32A | ANP32A include Spinocerebellar Ataxia 1 and Primary Cerebellar Degeneration. |
ANP32E | ANP32E ; the complex does not contain SRCAP. |
ARHGAP11B | ARHGAP11B include Chromosome 15Q13.3 Deletion Syndrome and Pyromania. |
ATAD5 | ATAD5 include Chromosome 17Q11.2 Deletion Syndrome and Xeroderma Pigmentosum, Variant Type. |
ATF5 | ATF5 include Triple Receptor Negative Breast Cancer and Glioblastoma Multiforme. |
ATF7 | ATF7 include Pulmonary Systemic Sclerosis and Retinoblastoma. |
AZGP1 | AZGP1 include Hidrocystoma and Clear Cell Hidradenoma. |
BRCA1 | BRCA1 gene contains 22 exons spanning about 110 kb of DNA. |
CARD10 | CARD10 belongs to the membrane associated guanylate kinase family and activates NF kappa B through BC... |
CD274 | CD274, also commonly referred to as PDL1, is a ligand that binds with the receptor PD1, commonly found on T cells, and acts to block T cell activation. |
CDCA3 | CDCA3 include Night Blindness, Congenital Stationary, Type 1H. |
CDNF | CDNF include Baritosis and Indolent Systemic Mastocytosis. |
CGN | CGN include Acute Proliferative Glomerulonephritis. |
CRTC1 | CRTC1 include Mucoepidermoid Carcinoma and Cutaneous Mucoepidermoid Carcinoma. |
CSN3 | CSN3 include Milk Allergy and Cow Milk Allergy. |
CYP3A43 | CYP3A43 is used for rabbit immunization. |
DERA | DERA include Phlebotomus Fever and Colorado Tick Fever. |
DOC2A | DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene is initially named DOC 2. |
ECHDC2 | ECHDC2 include 3 Methylglutaconic Aciduria, Type I and Cervical Adenosquamous Carcinoma. |
ESR1 | ESR1 is a focus in breast cancer for quite some time, but is clinically relevant in endometrial, ovarian and other cancer types. |
ETV4 | ETV4 include Ewing Sarcoma and Extraosseous Ewing Sarcoma. |
FBXO17 | FBXO17 is used for rabbit immunization. |
FCRL1 | FCRL1 is used for rabbit immunization. |
FCRLB | FCRLB is used for rabbit immunization. |
FERMT2 | FERMT2 include Kindler Syndrome and Leukocyte Adhesion Deficiency, Type I. |
GBP4 | GBP4, are induced by interferon and hydrolyze GTP to both GDP and GMP .[supplied by OMIM, Dec 2008] See more... |
GCKR | GCKR subfamily of the SIS family of proteins. |
GNA15 | GNA15 include Pertussis and Charcot Marie Tooth Disease, Dominant Intermediate F. |
GNPTAB | GNPTAB include Mucolipidosis Iii Alpha/Beta and Mucolipidosis Ii Alpha/Beta. |
GUCA2A | GUCA2A include Large Intestine Adenoma and Osmotic Diarrhea. |
HARBI1 | HARBI1 include Hereditary Breast Ovarian Cancer Syndrome. |
HIF1AN | HIF1AN include Hypoxia and Familial Isolated Hypoparathyroidism. |
IFNAR1 | IFNAR1 Polyclonl Antibody at dilution of 1:200. |
IRS4 | IRS4 protein is shown to associate with cytoplasmic signalling molecules that contain SH2 domains. |
JAKMIP1 | JAKMIP1 include White Sutton Syndrome and Smith Magenis Syndrome. |
LUC7L | LUC7L gene may represent a mammalian heterochromatic gene, encoding a putative RNA binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5 ... |
MARVELD1 | MARVELD1 include Facial Paralysis and Facial Nerve Disease. |
MON2 | MON2 include Mucocutaneous Leishmaniasis and Splenic Disease. |
MREG | MREG include Amphetamine Abuse and Ureterocele. |
MTSS1 | MTSS1 include Lung Giant Cell Carcinoma and Wiskott Aldrich Syndrome. |
MXD3 | MXD3 complex is associated with uncontrolled cell proliferation and tum... |
NAGA | NAGA have been identified as the cause of Schindler disease types I and II. |
NCAPD2 | NCAPD2 include Microcephaly 21, Primary, Autosomal Recessive and Microcephaly. |
NEGR1 | NEGR1 include Niemann Pick Disease and Niemann Pick Disease, Type C2. |
NEURL1 | NEURL1 include Medulloblastoma and Mental Retardation, Autosomal Dominant 38. |
NMI | NMI protein also interacts with all STATs except STAT2 and augments STAT mediated transcription in response to cytokines IL2 and IFN gamma. |
NOTUM | NOTUM include Suppurative Periapical Periodontitis and Retinitis Pigmentosa 49. |
NRG4 | NRG4, activate type 1 growth factor receptors to initiating cell to cell signaling through tyrosine phosphorylation .[supplied by OMIM, Mar 2008] See more... |
ODF2L | ODF2L include Peroxisome Biogenesis Disorder 2A and Borderline Leprosy. |
OPHN1 | OPHN1 related X linked cognitive disability with cerebellar hypoplasia and distinctive facial dysmorhphi... |
PDE2A | PDE2A include Paroxysmal Dystonia and Chorea, Benign Hereditary. |
PDE3B | PDE3B include Pseudohypoparathyroidism, Type Ii and Pelizaeus Merzbacher Disease. |
PHB2 | PHB2 include Breast Medullary Carcinoma and 3 Methylglutaconic Aciduria, Type V. |
PHLDA3 | PHLDA3 genomic locus is frequently observed in primary lung cancers, suggesting a role in tumor suppression. |
PLXND1 | PLXND1 include Moebius Syndrome and Conotruncal Heart Malformations. |
PPP1R1A | PPP1R1A include Rosette Forming Glioneuronal Tumor. |
PPP2R2D | PPP2R2D fluctuate during the cell cycle: the activity is high in interphase and low in mitosis. |
PPP3CA | PPP3CA include Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development and Epileptic Encephalopathy, Infantile Or Early Childhood, 1. |
PPT1 | PPT1 include Ceroid Lipofuscinosis, Neuronal, 1 and Neuronal Ceroid Lipofuscinosis. |
PSMA8 | PSMA8 include Pelvic Varices and Cystic Fibrosis. |
RAB35 | RAB35 include Familial Renal Oncocytoma and Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome. |
RAD51AP1 | RAD51AP1 include Fanconi Anemia, Complementation Group A. |
RAPGEF4 | RAPGEF4 include Lesch Nyhan Syndrome and Cerebral Cavernous Malformations. |
RASGEF1B | RASGEF1B include Chromosome 4Q21 Deletion Syndrome and Malignant Hemangioma. |
RP2 | RP2 locus is implicated as one cause of X linked retinitis pigmentosa. |
SARM1 | SARM1 include Wallerian Degeneration and Bullous Retinoschisis. |
SCGB2A1 | SCGB2A1 include Hypotrichosis 13 and Febrile Seizures, Familial, 4. |
SERPINB5 | SERPINB5 include Pleomorphic Adenoma and Syringoma. |
SLAMF1 | SLAMF1 include Measles and Subacute Sclerosing Panencephalitis. |
SLC15A4 | SLC15A4 include Hyperinsulinemic Hypoglycemia, Familial, 3 and Systemic Lupus Erythematosus. |
SLC5A11 | SLC5A11, represent a major class of proteins that make use of ion gradients to drive active transport for the cellular accumulation of nutrients, neurotransmitters, osmolytes, and ions Roll et al. |
SPRY1 | SPRY1 include Adrenal Cortical Adenocarcinoma and Legius Syndrome. |
SUN2 | SUN2 are inner nuclear membrane proteins that play a major role in nuclear cytoplasmic connection by formation of a 'bridge' across the nuclear envelope, known as the LINC complex, via interaction wi... |
TBCEL | TBCEL include Megalencephalic Leukoencephalopathy With Subcortical Cysts 2B, Remitting, With Or Without Mental Retardation and Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A. |
TFB2M | TFB2M include Mitochondrial Dna Depletion Syndrome 11 and Mitochondrial Dna Depletion Syndrome 1. |
U2AF1 | U2AF1 is one of several spliceosome complex genes frequently mutated in a variety of hematologic malignancies, particularly de novo myelodysplastic syndromes, as well as solid tumors such as lung and... |
UBXN1 | UBXN1 include 3 Methylcrotonyl Coa Carboxylase Deficiency. |
WIZ | WIZ include Johanson Blizzard Syndrome and Exstrophy Of Bladder. |
DMRT3 | DMRT3 include Spastic Cerebral Palsy and 46,Xy Partial Gonadal Dysgenesis. |
KASH5 | KASH5 include Spermatogenic Failure 16 and Muscular Dystrophy, Congenital, Lmna Related. |
EIF3J | EIF3J is used for rabbit immunization. |
DRG1 | DRG1 include Charcot Marie Tooth Disease, X Linked Recessive, 5. |
GLE1 | GLE1 L by microinjection of antibodies against L in HeLa cells resulted in inhibition of poly +RNA export. |
DDX18 | DDX18 is used for rabbit immunization. |
HINT2 | HINT2, are nucleotide hydrolases and transferases that act on the alpha phosphate of ribonucleotides .[supplied by OMIM, Mar 2008] See more... |
CMTM3 | CMTM3 is used for rabbit immunization. |
FKBP15 | FKBP15 include Megalencephalic Leukoencephalopathy With Subcortical Cysts 1 and Spinocerebellar Ataxia 11. |
UBQLN4 | UBQLN4 include Amyotrophic Lateral Sclerosis 1 and Mumps. |
PRKAR2B | PRKAR2B include Carney Complex Variant and Spinocerebellar Ataxia, Autosomal Recessive 16. |
IRAK2 | IRAK2 is reported to participate in the IL1 induced upregulation of NF kappaB. |
ZFP42 | ZFP42 include Spermatocytoma and Germ Cell And Embryonal Cancer. |
SYCN | SYCN include Akinetopsia and Brachydactyly, Type D. |
PIH1D1 | PIH1D1 include Primary Ciliary Dyskinesia. |
MYL3 | MYL3 have been identified as a cause of mid left ventricular chamber type hypertrophic cardiomyopathy. |
MESP1 | MESP1 include Myasthenic Syndrome, Congenital, 20, Presynaptic and Double Outlet Right Ventricle. |
GABRR1 | GABRR1 is a member of the rho subunit family. |
MT4 | MT4 include Pthirus Pubis Infestation and Lice Infestation. |
ZIM3 | ZIM3 include Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation and Squamous Cell Papilloma. |
OPRD1 | OPRD1 include Morphine Dependence and Heroin Dependence. |
IKBKE | IKBKE has also been identified as a breast cancer oncogene and is amplified and overexpressed in over 30% of breast carcinomas and breast cancer cell lines .[supplied by OMIM, Oct 2009] See more... |
NDUFB8 | NDUFB8 include Mitochondrial Complex I Deficiency, Nuclear Type 32 and Leigh Syndrome With Cardiomyopathy. |
IRX4 | IRX4 include Tetralogy Of Fallot and Holt Oram Syndrome. |
ARV1 | ARV1 include Epileptic Encephalopathy, Early Infantile, 38 and Yemenite Deaf Blind Hypopigmentation Syndrome. |
CHML | CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP 1 in tissues other than retina. |
G3BP2 | G3BP2 include Mouth Disease and Chikungunya. |
NOTCH1 | NOTCH1 is one of four known genes encoding the NOTCH family of proteins, a group of receptors involved in the Notch signaling pathway. |
KANK4 | KANK4 include Fuchs' Endothelial Dystrophy. |
IRAK4 | IRAK4 deficiency and recurrent invasive pneumococcal disease. |
MC2R | MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin receptors recognize a variety of melanocortin ligands... |
MAP1B | MAP1B heavy chain and LC1 light chain. |
LRG1 | LRG1, have been shown to be involved in protein protein interaction, signal transduction, and cell adhesion and development. |
DENND1B | DENND1B, function as guanine nucleotide exchange factors for the early endosomal small GTPase RAB35 and bind to clathrin and clathrin adaptor protein 2. |
NOL9 | NOL9 include Atrial Septal Defect 1. |
USP51 | USP51 is recruited to chromatin after DNA damage and regulates the dynamic assembly/disassembly of TP53BP1 and BRCA1. |
OLIG1 | OLIG1 include Oligodendroglioma and Grade Iii Astrocytoma. |
NCAPD3 | NCAPD3 is 1 of 3 non SMC subunits that define condensin II .[su... |
RBM47 | RBM47 include Lung Acinar Adenocarcinoma. |
TTC28 | TTC28 include Chromosome 18Q Deletion Syndrome and Cleft Soft Palate. |
AKAP9 | AKAP9 partial recombinant protein with GST tag. |
MEMO1 | MEMO1 RHOA DIAPH1 signaling pathway plays an important role in ERBB2 dependent stabilization of microtubules at the cell cortex. |
BARHL1 | BARHL1 include Deafness, Autosomal Recessive 27 and Medulloblastoma. |
TCL1B | TCL1B include T Cell Lymphoblastic Leukemia/Lymphoma and Leukemia. |
GPR37L1 | GPR37L1 is a constitutively active receptor which signals through the guanine nucleotide binding protein G subunit alpha. |
LAMC1 | LAMC1 include Junctional Epidermolysis Bullosa and Junctional Epidermolysis Bullosa Inversa. |
GIT1 | GIT1 include Progressive Myoclonus Epilepsy 7 and Blind Loop Syndrome. |
HMGCLL1 | HMGCLL1 include 3 Hydroxy 3 Methylglutaryl Coa Lyase Deficiency and Breast Adenoid Cystic Carcinoma. |
MYF5 | MYF5 include Ophthalmoplegia, External, With Rib And Vertebral Anomalies and Scoliosis. |
GSG1L | GSG1L include Tarp Syndrome and Arthrogryposis, Distal, Type 2A. |
PTMA | PTMA include Hepatitis B and Invasive Malignant Thymoma. |
CGREF1 | CGREF1 include Fructosuria, Essential. |
MESD | MESD include Osteogenesis Imperfecta, Type Xx and Epilepsy, Nocturnal Frontal Lobe, 2. |
TFAP2A | TFAP2A include Branchiooculofacial Syndrome and Lens Subluxation. |
FUT4 | FUT4 include Colon Adenocarcinoma and Liver Lymphoma. |
DENND4C | DENND4C include Alkuraya Kucinskas Syndrome and Koolen De Vries Syndrome. |
CBFB | CBFB : its expression during embryogenesis and its relationship to scl and gata 1 in hematopoiesis. |
MRGPRD | MRGPRD include Femoral Cancer and Liver Rhabdomyosarcoma. |
FANCF | FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM and FANCN. |
SHC4 | SHC4 include Obsessive Compulsive Personality Disorder and Eating Disorder. |
HJURP | HJURP include Myopathy, Centronuclear, 1 and Lung Cancer. |
NAB1 | NAB1 include Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive and Hypertrophic Neuropathy Of Dejerine Sottas. |
ZNF131 | ZNF131 include Split Hand/Foot Malformation 1. |
UBE2F | UBE2F include Brachydactyly, Type E2. |
BCAS3 | BCAS3 include Transvestism and Fetishism. |
CCDC47 | CCDC47 include Trichohepatoneurodevelopmental Syndrome. |
WDR91 | WDR91 include Ornithosis and Usher Syndrome, Type I. |
NUMBL | NUMBL include Differentiating Neuroblastoma. |
RNF144B | RNF144B include Cardiomyopathy, Familial Hypertrophic, 4 and Aortic Valve Disease 1. |
NOTCH2NLC | NOTCH2NLC include Neuronal Intranuclear Inclusion Disease. |
MNDA | MNDA is strikingly similar to a region in the proteins encoded by a family of interferon inducible mouse genes, designated Ifi 201, Ifi 202, and Ifi 203, that are not regulated in a cell or tissue s... |
ANKRD50 | ANKRD50 include Rumination Disorder and Hennekam Syndrome. |
YIPF5 | YIPF5 include Ulnar Neuropathy and 3 Methylglutaconic Aciduria, Type Vii. |
KIF17 | KIF17 include Charcot Marie Tooth Disease, Axonal, Type 2Q and Sulfhemoglobinemia. |
ADAL | ADAL include Hypertropia and Spastic Hemiplegia. |
AQP5 | AQP5, and AQP6 are closely related and all map to 12q13. |
APOBEC1 | APOBEC1 complementation factor and stimulating protein. |
TEX2 | TEX2 include Wernicke Korsakoff Syndrome and Thiamine Deficiency Disease. |
ADGRG3 | ADGRG3 include Polymicrogyria, Bilateral Frontoparietal and Epulis. |
SLF2 | SLF2 include Form Agnosia and Alveoli Adenoma. |
RAB5B | RAB5B include Parkinson Disease, Late Onset. |
DAAM2 | DAAM2 include Cerebral Amyloid Angiopathy, Itm2b Related, 2 and Guillain Barre Syndrome. |
ZNF143 | ZNF143 include Disorders Of Intracellular Cobalamin Metabolism and Branchiootorenal Syndrome 2. |
ZNF703 | ZNF703 include Breast Cancer and Luminal Breast Carcinoma. |
TOE1 | TOE1 include Pontocerebellar Hypoplasia, Type 7 and Pontocerebellar Hypoplasia. |
CD101 | CD101 include Langerhans Cell Histiocytosis and Histiocytosis. |
L3MBTL4 | L3MBTL4 include Chromosome 18P Deletion Syndrome and N Syndrome. |
CAB39 | CAB39 include Non Invasive Bladder Urothelial Carcinoma. |
CMBL | CMBL preferentially cleaves cyclic esters, and it activates medoxomil ester prodrugs in which the medoxomil moiety is linked to an oxygen atom .[supplied by OMIM, Apr 2010] See more... |
MAP1S | MAP1S include Giant Axonal Neuropathy 1, Autosomal Recessive and Kabuki Syndrome 1. |
IRF7 | IRF7 is shown to play a role in the transcriptional activation of virus inducible cellular genes, including interferon beta chain genes. |
IRF9 | IRF9 include Immunodeficiency 65 Viral Infections and Lymphocytic Choriomeningitis. |
ZFP30 | ZFP30 include Cerebral Visual Impairment. |
ZNF91 | ZNF91 gene encodes a zinc finger protein of the KRAB subfamily .[supplied by OMIM, May 2010] See more... |
ZNF780B | ZNF780B include Fructose Intolerance, Hereditary. |
ZNF555 | ZNF555 include Embryonal Testis Carcinoma. |
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