chr2:202098166:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr2:202,098,166-202,226,559
hg38 chr2:201,233,443-201,361,836 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 squamous cell carcinoma NA BeFree,GAD Detail
0.002 Malignant tumor of cervix Here, we show that Mith decreased Sp1 protein by inducing proteasome-dependent d... BeFree 25418289 Detail
0.120 Uterine Cervical Neoplasm NA CTD_human Detail
<0.001 choriocarcinoma NA BeFree Detail
0.002 Congenital clubfoot NA GAD Detail
<0.001 colitis NA BeFree Detail
0.005 Colonic Neoplasms NA LHGDN Detail
0.005 colorectal carcinoma The cleavage of Bid activated by caspase-8 might serve as a crosstalk mediator b... BeFree 24957706 Detail
0.120 Colorectal Neoplasms NA BeFree,CTD_human Detail
0.003 Cessation of life NA LHGDN Detail
0.080 Dermatitis, Atopic NA BeFree,MGD Detail
0.120 contact dermatitis NA CTD_human Detail
0.003 diabetes mellitus NA BeFree,GAD Detail
0.080 Diabetes Mellitus, Experimental NA RGD Detail
0.120 Diabetes Mellitus, Non-Insulin-Dependent NA CTD_human Detail
<0.001 Eczema NA BeFree Detail
0.120 Edema NA CTD_human Detail
<0.001 encephalitis NA BeFree Detail
0.080 Experimental Autoimmune Encephalomyelitis NA BeFree,RGD Detail
0.002 Endometrial Neoplasms NA GAD Detail
0.120 Esophageal Neoplasms NA CTD_human Detail
<0.001 Fanconi anemia NA BeFree Detail
<0.001 fibrosarcoma NA BeFree Detail
0.004 glioblastoma NA BeFree,LHGDN Detail
0.009 Glioma NA BeFree,GAD,LHGDN Detail
<0.001 IgA glomerulonephritis We investigated whether polymorphisms of apoptotic genes such as B-cell CLL/lymp... BeFree 24621205 Detail
0.003 Graves Disease NA BeFree,LHGDN Detail
0.005 Head and Neck Neoplasms NA GAD Detail
<0.001 hepatitis NA BeFree Detail
<0.001 hepatitis A NA BeFree Detail
0.003 hepatitis C NA LHGDN Detail
<0.001 Herpes Simplex Infections NA BeFree Detail
0.003 Histiocytosis, Langerhans-Cell NA LHGDN Detail
0.002 HIV Infections Dysfunctional HIV-specific CD8+ T cell proliferation is associated with increase... BeFree 25526311 Detail
<0.001 Huntington disease NA BeFree Detail
0.006 Malignant neoplasm of ovary The aim of the study is to investigate the relevance of rs1056663 and rs2708861 ... BeFree 22926736 Detail
0.002 ovarian carcinoma The aim of the study is to investigate the relevance of rs1056663 and rs2708861 ... BeFree 22926736 Detail
<0.001 Immunologic Deficiency Syndromes NA BeFree Detail
0.002 male infertility NA GAD Detail
<0.001 insulinoma NA BeFree Detail
0.124 chronic lymphocytic leukemia After adjustment for multiple testing, we found a strong association between CLL... BeFree 19074885 Detail
<0.001 ischemia NA BeFree Detail
<0.001 Keloid NA BeFree Detail
0.003 leukemia NA BeFree,LHGDN Detail
0.124 chronic lymphocytic leukemia NA BeFree,GAD,GWASCAT Detail
<0.001 Acute lymphocytic leukemia NA BeFree Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 NA BeFree Detail
<0.001 Leukemia, Myelocytic, Acute NA BeFree Detail
0.005 Myeloid Leukemia, Chronic NA GAD Detail
<0.001 acute promyelocytic leukemia NA BeFree Detail
<0.001 Adult T-Cell Lymphoma/Leukemia NA BeFree Detail
<0.001 Leukoencephalopathy, Progressive Multifocal NA BeFree Detail
0.001 Liver neoplasms NA BeFree Detail
0.003 Chronic Obstructive Airway Disease Although expression of mRNA for p21(CIP1/WAF1) and caspase-9 was similar in both... BeFree,GAD 24871992 Detail
0.129 Lung Neoplasms NA BeFree,CTD_human,LHGDN Detail
<0.001 Lupus Vulgaris NA BeFree Detail
<0.001 Lupus Erythematosus, Discoid NA BeFree Detail
<0.001 Lupus Erythematosus, Systemic NA BeFree Detail
0.003 lymphoma NA BeFree,LHGDN Detail
0.008 Lymphoma, Non-Hodgkin NA BeFree,GAD Detail
0.003 Lymphoproliferative Disorders NA LHGDN Detail
0.002 Malignant neoplasm of stomach NA BeFree Detail
0.002 Animal Mammary Neoplasms NA GAD Detail
0.080 Mammary Neoplasms, Experimental NA RGD Detail
0.005 medulloblastoma NA BeFree,LHGDN Detail
0.128 melanoma Random-effects meta-analyses of 81 eligible polymorphisms evaluated in >4 data s... BeFree,CTD_human,GAD,LHGDN 25407435 Detail
<0.001 multiple endocrine neoplasia type 1 NA BeFree Detail
0.002 Meningeal Neoplasms NA GAD Detail
0.006 meningioma NA BeFree,GAD,LHGDN Detail
0.006 multiple myeloma NA BeFree,GAD,LHGDN Detail
0.003 multiple sclerosis NA BeFree,GAD Detail
<0.001 spinal muscular atrophy NA BeFree Detail
<0.001 Mycoses NA BeFree Detail
<0.001 mycosis fungoides NA BeFree Detail
<0.001 myocardial infarction NA BeFree Detail
0.120 Myocardial Reperfusion Injury NA CTD_human Detail
0.002 narcolepsy NA GAD Detail
<0.001 Nasal Polyps NA BeFree Detail
0.005 Neoplasm Metastasis NA BeFree,LHGDN Detail
0.002 Neoplasm Recurrence, Local NA GAD Detail
0.002 Pathologic Neovascularization NA GAD Detail
<0.001 nephroblastoma NA BeFree Detail
<0.001 Niemann-Pick Diseases NA BeFree Detail
<0.001 Degenerative polyarthritis NA BeFree Detail
0.004 osteosarcoma NA BeFree,LHGDN Detail
0.002 ovarian carcinoma NA BeFree Detail
0.005 Pancreatic Neoplasm NA GAD,LHGDN Detail
<0.001 pheochromocytoma NA BeFree Detail
0.005 Prostatic Neoplasms NA BeFree,GAD,LHGDN Detail
<0.001 Reoviridae Infections NA BeFree Detail
0.120 Reperfusion Injury NA CTD_human Detail
0.003 retinoblastoma NA LHGDN Detail
<0.001 Retroviridae Infections NA BeFree Detail
<0.001 rhabdomyosarcoma NA BeFree Detail
<0.001 Kaposi sarcoma NA BeFree Detail
<0.001 Septicemia NA BeFree Detail
<0.001 Sezary syndrome NA BeFree Detail
<0.001 silicosis NA BeFree Detail
0.122 Skin Neoplasms NA CTD_human,GAD Detail
0.200 status epilepticus NA CTD_human,RGD Detail
0.120 Stomach Neoplasms NA CTD_human Detail
<0.001 Cerebrovascular accident NA BeFree Detail
<0.001 tricuspid valve insufficiency Immunoblotting of atrial extracts showed that there was enhanced expression of c... BeFree 26004742 Detail
<0.001 tuberculosis NA BeFree Detail
<0.001 Virus Diseases NA BeFree Detail
<0.001 B-Cell Lymphomas NA BeFree Detail
<0.001 Lymphoma, Large-Cell, Follicular NA BeFree Detail
<0.001 Lymphoma, T-Cell, Cutaneous NA BeFree Detail
<0.001 severe combined immunodeficiency NA BeFree Detail
0.003 Bronchial Hyperreactivity NA BeFree,GAD Detail
0.002 Neoplasms, Second Primary NA GAD Detail
<0.001 Liver failure NA BeFree Detail
0.004 Small cell carcinoma of lung NA BeFree,LHGDN Detail
0.003 intracranial hypertension NA LHGDN Detail
<0.001 Cutaneous Melanoma Random-effects meta-analyses of 81 eligible polymorphisms evaluated in >4 data s... BeFree 25407435 Detail
<0.001 Malignant neoplasm of mouth Cobalt chloride (CoCl2), a HIF-1α activator, attenuated the IK-induced growth-in... BeFree 25105148 Detail
<0.001 Malignant neoplasm of gallbladder NA BeFree Detail
<0.001 Liver Failure, Acute NA BeFree Detail
0.120 Dermatitis, Allergic Contact NA CTD_human Detail
<0.001 Tumor Progression NA BeFree Detail
<0.001 Neuroectodermal Tumors NA BeFree Detail
<0.001 Ki-1+ Anaplastic Large Cell Lymphoma NA BeFree Detail
<0.001 germinoma NA BeFree Detail
<0.001 Lip and oral cavity carcinoma Cobalt chloride (CoCl2), a HIF-1α activator, attenuated the IK-induced growth-in... BeFree 25105148 Detail
<0.001 Fibrillation Immunoblotting of atrial extracts showed that there was enhanced expression of c... BeFree 26004742 Detail
<0.001 gallbladder carcinoma NA BeFree Detail
0.001 pancreatic carcinoma NA BeFree Detail
0.002 Gastrointestinal Stromal Tumors NA GAD Detail
<0.001 Papillary thyroid carcinoma NA BeFree Detail
0.014 Malignant neoplasm of lung NA BeFree,GAD Detail
<0.001 age related macular degeneration DICER1/Alu RNA dysmetabolism induces Caspase-8-mediated cell death in age-relate... BeFree 25349431 Detail
0.080 Sepsis NA BeFree,RGD Detail
<0.001 Multiple tumors NA BeFree Detail
<0.001 Crohn's disease of the ileum NA BeFree Detail
<0.001 Acute viral hepatitis NA BeFree Detail
<0.001 Disseminated neuroblastoma NA BeFree Detail
<0.001 Cancer of Head and Neck Caspase-8 mutations in head and neck cancer confer resistance to death receptor-... BeFree 24816188 Detail
<0.001 Squamous cell carcinoma of esophagus Apollon knockdown also enhanced cisplatin/docetaxel-induced activation of caspas... BeFree 25216531 Detail
<0.001 Adenocarcinoma Of Esophagus NA BeFree Detail
<0.001 stage, neuroblastoma NA BeFree Detail
<0.001 laryngeal squamous cell carcinoma NA BeFree Detail
0.002 cervix carcinoma Here, we show that Mith decreased Sp1 protein by inducing proteasome-dependent d... BeFree 25418289 Detail
<0.001 Superficial ulcer NA BeFree Detail
<0.001 Carcinoid tumor no ICD-O subtype NA BeFree Detail
<0.001 malignant fibrous histiocytoma NA BeFree Detail
<0.001 Breast Cancer, Familial NA BeFree Detail
0.001 Malignant neoplasm of pancreas NA BeFree Detail
<0.001 Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site NA BeFree Detail
<0.001 lupus erythematosus NA BeFree Detail
0.006 multiple myeloma To examine if five single nucleotide polymorphisms (SNPs) in four caspase genes ... BeFree 18381704 Detail
0.001 endometrial carcinoma NA BeFree Detail
<0.001 Recurrent tumor NA BeFree Detail
0.003 Neurodegenerative Disorders NA BeFree,LHGDN Detail
<0.001 Thyroid carcinoma NA BeFree Detail
<0.001 Ewings sarcoma Gene modified MSC expressing TRAIL were cocultured with different osteosarcoma, ... BeFree 25420617 Detail
0.001 Malignant glioma NA BeFree Detail
<0.001 Osteosarcoma of bone NA BeFree Detail
0.003 Carcinogenesis The signals of carcinogenesis modulate the central control points of the apoptot... BeFree 25013758 Detail
0.003 Hashimoto Disease NA LHGDN Detail
0.001 Epithelial ovarian cancer NA BeFree Detail
<0.001 Terminal Ileitis NA BeFree Detail
0.002 Carcinoma of lung NA BeFree Detail
<0.001 Malignant neoplasm of gastrointestinal tract Further subgroup analysis indicated that CASP8 -652 6N del polymorphism was asso... BeFree 25553350 Detail
0.002 colon carcinoma BaxΔ2 promotes apoptosis through caspase-8 activation in microsatellite-unstable... BeFree 24842234 Detail
0.002 colon carcinoma A novel inflammatory regulator TIPE2 inhibits TLR4-mediated development of colon... BeFree 24934366 Detail
0.002 stomach carcinoma NA BeFree Detail
0.001 Carcinoma of bladder NA BeFree Detail
<0.001 Brain Tumor, Primary NA BeFree Detail
<0.001 Multiple Sclerosis, Primary Progressive NA BeFree Detail
<0.001 malignant pleural mesothelioma NA BeFree Detail
<0.001 breast adenocarcinoma NA BeFree Detail
<0.001 Lupus-like syndrome NA BeFree Detail
0.120 Papillomavirus Infections NA CTD_human Detail
<0.001 West Nile viral infection NA BeFree Detail
<0.001 Stage 4S neuroblastoma NA BeFree Detail
0.006 Malignant neoplasm of ovary NA BeFree,GAD Detail
0.122 Squamous cell carcinoma of the head and neck NA BeFree,CTD_human Detail
0.004 sarcoma Sarcoma death was specifically associated with caspase-8 activation starting fro... BeFree,LHGDN 25420617 Detail
<0.001 Primary Effusion Lymphoma NA BeFree Detail
<0.001 Adenoma of rectum NA BeFree Detail
<0.001 Hormone refractory prostate cancer NA BeFree Detail
0.121 autoimmune lymphoproliferative syndrome NA BeFree,CTD_human Detail
<0.001 Primary Carcinoma NA BeFree Detail
<0.001 supratentorial primitive neuroectodermal tumor NA BeFree Detail
<0.001 Epithelioma NA BeFree Detail
<0.001 Cardiac fibrosis Transplantation of caspase 8 shRNA-modified hMSCs could significantly improve in... BeFree 25060909 Detail
0.142 Mammary Neoplasms NA BeFree,CTD_human,GAD,LHGDN Detail
<0.001 Hepatocarcinogenesis NA BeFree Detail
<0.001 Primary Glioblastoma NA BeFree Detail
<0.001 Tumor Promotion NA BeFree Detail
0.011 colorectal cancer The cleavage of Bid activated by caspase-8 might serve as a crosstalk mediator b... BeFree,GAD 24957706 Detail
<0.001 Geographic Atrophy Coupled with our observation of increased Caspase-8 expression in the RPE of hum... BeFree 25349431 Detail
<0.001 Tendinopathy NA BeFree Detail
<0.001 Glioblastoma multiforme NA BeFree Detail
<0.001 Non-Neoplastic Disorder NA BeFree Detail
<0.001 Meningioma, benign, no ICD-O subtype NA BeFree Detail
<0.001 uterine corpus cancer NA BeFree Detail
0.123 Precursor Cell Lymphoblastic Leukemia Lymphoma NA BeFree,CTD_human,LHGDN Detail
<0.001 Promyelocytic leukemia NA BeFree Detail
<0.001 Nasopharyngeal carcinoma NA BeFree Detail
0.120 Cerebral Hemorrhage NA CTD_human Detail
<0.001 Low grade dysplastic nodule NA BeFree Detail
<0.001 High grade dysplastic nodule NA BeFree Detail
<0.001 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) NA BeFree Detail
<0.001 Triple Negative Breast Neoplasms Caspase-8 was also activated in TQ-treated TNBC cells, although the mechanism of... BeFree 24579801 Detail
0.003 Infection NA LHGDN Detail
<0.001 Tumors in children NA BeFree Detail
<0.001 Disorder of Achilles tendon NA BeFree Detail
0.123 adenocarcinoma NA BeFree,CTD_human,GAD Detail
0.003 adenoma NA BeFree,LHGDN Detail
0.005 AIDS related complex NA LHGDN Detail
<0.001 Alzheimer's disease NA BeFree Detail
<0.001 amyotrophic lateral sclerosis NA BeFree Detail
0.009 breast carcinoma Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... BeFree 22532573 Detail
0.049 Malignant neoplasm of breast Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2),... BeFree 22532573 Detail
0.003 anthracosis NA BeFree,GAD Detail
0.001 rheumatoid arthritis NA BeFree Detail
0.003 asthma NA BeFree,GAD Detail
<0.001 bipolar disorder NA BeFree Detail
0.010 Malignant neoplasm of urinary bladder NA BeFree,GAD Detail
0.003 Bladder Neoplasm NA BeFree,LHGDN Detail
0.003 Brain Neoplasms NA BeFree,GAD Detail
<0.001 Carcinoid Tumor NA BeFree Detail
0.002 Malignant tumor of colon BaxΔ2 promotes apoptosis through caspase-8 activation in microsatellite-unstable... BeFree 24842234 Detail
0.002 Malignant tumor of colon A novel inflammatory regulator TIPE2 inhibits TLR4-mediated development of colon... BeFree 24934366 Detail
<0.001 Malignant neoplasm of endometrium NA BeFree Detail
<0.001 Rectal Carcinoma NA BeFree Detail
<0.001 Malignant neoplasm of thyroid NA BeFree Detail
0.123 Non-small cell lung carcinoma Gefitinib induces cytoplasmic translocation of the CDK inhibitor p27 and its bin... BeFree,CTD_human 25228008 Detail
<0.001 Carcinoma, Papillary NA BeFree Detail
0.006 renal cell carcinoma NA BeFree,GAD,LHGDN Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
Here, we show that Mith decreased Sp1 protein by inducing proteasome-dependent degradation, thereby ... DisGeNET Detail
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The cleavage of Bid activated by caspase-8 might serve as a crosstalk mediator between these two pat... DisGeNET Detail
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We investigated whether polymorphisms of apoptotic genes such as B-cell CLL/lymphoma 2 (BCL2), BH3-i... DisGeNET Detail
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Dysfunctional HIV-specific CD8+ T cell proliferation is associated with increased caspase-8 activity... DisGeNET Detail
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The aim of the study is to investigate the relevance of rs1056663 and rs2708861 HUS1 polymorphisms, ... DisGeNET Detail
The aim of the study is to investigate the relevance of rs1056663 and rs2708861 HUS1 polymorphisms, ... DisGeNET Detail
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After adjustment for multiple testing, we found a strong association between CLL risk and six geneti... DisGeNET Detail
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Although expression of mRNA for p21(CIP1/WAF1) and caspase-9 was similar in both groups, p53 and cas... DisGeNET Detail
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Random-effects meta-analyses of 81 eligible polymorphisms evaluated in >4 data sets confirmed 20 sin... DisGeNET Detail
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Immunoblotting of atrial extracts showed that there was enhanced expression of cytosolic cytochrome ... DisGeNET Detail
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Random-effects meta-analyses of 81 eligible polymorphisms evaluated in >4 data sets confirmed 20 sin... DisGeNET Detail
Cobalt chloride (CoCl2), a HIF-1α activator, attenuated the IK-induced growth-inhibiting and apoptos... DisGeNET Detail
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Cobalt chloride (CoCl2), a HIF-1α activator, attenuated the IK-induced growth-inhibiting and apoptos... DisGeNET Detail
Immunoblotting of atrial extracts showed that there was enhanced expression of cytosolic cytochrome ... DisGeNET Detail
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DICER1/Alu RNA dysmetabolism induces Caspase-8-mediated cell death in age-related macular degenerati... DisGeNET Detail
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Caspase-8 mutations in head and neck cancer confer resistance to death receptor-mediated apoptosis a... DisGeNET Detail
Apollon knockdown also enhanced cisplatin/docetaxel-induced activation of caspase-8 (extrinsic pathw... DisGeNET Detail
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Here, we show that Mith decreased Sp1 protein by inducing proteasome-dependent degradation, thereby ... DisGeNET Detail
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To examine if five single nucleotide polymorphisms (SNPs) in four caspase genes [CASP3 Ex8-280 C &gt... DisGeNET Detail
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Gene modified MSC expressing TRAIL were cocultured with different osteosarcoma, rhabdomyosarcoma, an... DisGeNET Detail
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The signals of carcinogenesis modulate the central control points of the apoptotic pathways, includi... DisGeNET Detail
NA DisGeNET Detail
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Further subgroup analysis indicated that CASP8 -652 6N del polymorphism was associated with breast c... DisGeNET Detail
BaxΔ2 promotes apoptosis through caspase-8 activation in microsatellite-unstable colon cancer. DisGeNET Detail
A novel inflammatory regulator TIPE2 inhibits TLR4-mediated development of colon cancer via caspase-... DisGeNET Detail
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Sarcoma death was specifically associated with caspase-8 activation starting from 8 hours of cocultu... DisGeNET Detail
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Transplantation of caspase 8 shRNA-modified hMSCs could significantly improve infracted heart functi... DisGeNET Detail
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The cleavage of Bid activated by caspase-8 might serve as a crosstalk mediator between these two pat... DisGeNET Detail
Coupled with our observation of increased Caspase-8 expression in the RPE of human eyes with geograp... DisGeNET Detail
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Caspase-8 was also activated in TQ-treated TNBC cells, although the mechanism of activation is not c... DisGeNET Detail
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Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... DisGeNET Detail
Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), ... DisGeNET Detail
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BaxΔ2 promotes apoptosis through caspase-8 activation in microsatellite-unstable colon cancer. DisGeNET Detail
A novel inflammatory regulator TIPE2 inhibits TLR4-mediated development of colon cancer via caspase-... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Gefitinib induces cytoplasmic translocation of the CDK inhibitor p27 and its binding to a cleaved in... DisGeNET Detail
NA DisGeNET Detail
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Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs104548 dbSNP
Genome
hg19
Position
chr2:202,098,166-202,226,559
Variant Type
snv
Genome browser