chr11:2163929:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr11:2,185,159-2,193,045 
hg38 chr11:2,163,929-2,171,815

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
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DisGeNET
Score Disease name Description Source Pubmed Links
0.006 Cardiovascular Diseases NA BeFree,GAD Detail
0.120 Catalepsy NA CTD_human Detail
0.080 brain ischemia NA RGD Detail
<0.001 dental enamel hypoplasia NA BeFree Detail
0.081 depressive disorder NA BeFree,RGD Detail
<0.001 Diabetes NA BeFree Detail
<0.001 diabetes mellitus NA BeFree Detail
0.080 Diabetes Mellitus, Experimental NA RGD Detail
0.006 Diabetes Mellitus, Insulin-Dependent NA BeFree,GAD Detail
0.003 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree,GAD Detail
<0.001 DiGeorge syndrome NA BeFree Detail
<0.001 Dwarfism NA BeFree Detail
<0.001 Dyskinetic syndrome NA BeFree Detail
0.120 Dyskinesia, Drug-Induced NA CTD_human Detail
0.132 dystonia NA BeFree,CTD_human,LHGDN Detail
0.080 epilepsy NA RGD Detail
<0.001 Fanconi anemia NA BeFree Detail
0.002 chronic fatigue syndrome NA GAD Detail
<0.001 ganglioneuroma NA BeFree Detail
0.120 Heart Diseases NA CTD_human Detail
0.080 Heart failure NA RGD Detail
0.001 Herpes Simplex Infections NA BeFree Detail
<0.001 Von Hippel-Lindau syndrome NA BeFree Detail
<0.001 HIV Infections NA BeFree Detail
0.080 hyperprolactinemia NA RGD Detail
0.099 Hypertensive disease NA BeFree,GAD,LHGDN,RGD Detail
0.080 Hypertension, Portal NA RGD Detail
0.080 hypoglycemia NA RGD Detail
0.005 Insulin resistance NA GAD Detail
0.120 Learning Disorders NA CTD_human Detail
<0.001 Lesch-Nyhan syndrome NA BeFree Detail
<0.001 acute myelomonocytic leukemia NA BeFree Detail
0.080 Liver Cirrhosis, Experimental NA RGD Detail
<0.001 lymphoma NA BeFree Detail
0.080 Machado-Joseph disease NA RGD Detail
<0.001 Malabsorption Syndrome NA BeFree Detail
<0.001 Malignant neoplasm of stomach NA BeFree Detail
<0.001 multiple endocrine neoplasia type 2A NA BeFree Detail
0.003 multiple sclerosis NA BeFree,GAD Detail
0.003 myocardial infarction NA BeFree,GAD Detail
<0.001 Neoplasm Metastasis NA BeFree Detail
0.120 Nerve Degeneration NA CTD_human Detail
<0.001 nervous system disorder NA BeFree Detail
0.141 neuroblastoma NA BeFree,CTD_human,LHGDN Detail
<0.001 Neuromuscular Diseases NA BeFree Detail
0.003 nicotine dependence NA BeFree,GAD Detail
<0.001 Nodule Both the 9.5-cm cardiac mass and 0.5-cm lung nodule were positive for chromogran... BeFree 24402737 Detail
0.002 obesity NA GAD Detail
0.003 Metabolic syndrome X We found that genotype Met/Met of the Val66Met polymorphism of the brain-derived... BeFree 20163778 Detail
0.081 depressive disorder We found that genotype Met/Met of the Val66Met polymorphism of the brain-derived... BeFree 20163778 Detail
0.097 Parkinson disease In the present study we compared monolayer-cultured (aMSC) and spheroid (sMSC) M... BeFree,GAD,LHGDN,RGD 25120226 Detail
0.097 Parkinson disease Loss of the Grx1 homolog also exacerbated the neurodegenerative phenotype in oth... BeFree,GAD,LHGDN,RGD 25355420 Detail
0.097 Parkinson disease Thus, the hTH-GFP reporter rat should be a valuable tool for Parkinson's disease... BeFree,GAD,LHGDN,RGD 25462571 Detail
<0.001 Phenylketonurias NA BeFree Detail
0.123 pheochromocytoma NA BeFree,CTD_human Detail
0.001 Pituitary Diseases NA BeFree Detail
0.080 polycystic ovary syndrome NA RGD Detail
0.002 pre-eclampsia NA GAD Detail
<0.001 prolactinoma NA BeFree Detail
0.002 Prostatic Neoplasms NA GAD Detail
<0.001 Psychotic Disorders We have searched for association between 119 SNPs in genes implicated in monoami... BeFree 25073638 Detail
<0.001 Rett syndrome NA BeFree Detail
0.031 schizophrenia NA BeFree,GAD,LHGDN Detail
<0.001 paranoid schizophrenia NA BeFree Detail
<0.001 Spastic paraplegia NA BeFree Detail
0.005 Stomach Neoplasms NA GAD,LHGDN Detail
<0.001 Cerebrovascular accident NA BeFree Detail
0.080 Substance Withdrawal Syndrome NA BeFree,RGD Detail
0.006 sudden infant death syndrome Tyrosine hydroxylase TH01 9.3 allele in the occurrence of sudden infant death sy... BeFree,GAD,LHGDN 24975687 Detail
<0.001 progressive supranuclear palsy NA BeFree Detail
<0.001 Tobacco Dependence NA BeFree Detail
0.005 Tobacco use disorder NA GAD,LHGDN Detail
<0.001 Gilles de la Tourette syndrome NA BeFree Detail
0.080 uremia NA RGD Detail
<0.001 Virus Diseases NA BeFree Detail
<0.001 vitiligo NA BeFree Detail
0.002 Weight Gain NA GAD Detail
0.003 Wolfram syndrome NA LHGDN Detail
<0.001 Albinism, Oculocutaneous NA BeFree Detail
<0.001 essential hypertension NA BeFree Detail
0.001 Encephalopathies NA BeFree Detail
<0.001 Polyglandular Type I Autoimmune Syndrome NA BeFree Detail
<0.001 pancreatic cholera NA BeFree Detail
0.002 Migraine Disorders NA GAD Detail
<0.001 Malnutrition NA BeFree Detail
<0.001 Rhabdomyosarcoma, Embryonal NA BeFree Detail
<0.001 ganglioneuroblastoma NA BeFree Detail
<0.001 Shprintzen syndrome NA BeFree Detail
<0.001 Chronic schizophrenia NA BeFree Detail
0.002 Personality Traits NA GAD Detail
0.124 Parkinsonian Disorders NA BeFree,CTD_human Detail
0.007 Neoplasm, Residual NA BeFree,LHGDN Detail
<0.001 Hyperphenylalaninemia, BH4-Deficient, B NA BeFree Detail
<0.001 Disseminated neuroblastoma NA BeFree Detail
<0.001 Malignant Childhood Neoplasm NA BeFree Detail
<0.001 stage, neuroblastoma NA BeFree Detail
<0.001 High altitude pulmonary edema NA BeFree Detail
<0.001 optic nerve glioma NA BeFree Detail
0.007 Malignant neoplasm of prostate NA BeFree,GAD Detail
0.006 Dystonia Disorders NA BeFree,GAD Detail
0.005 Dystonia, Diurnal NA BeFree Detail
<0.001 Inattention NA BeFree Detail
0.120 Hyperactive behavior NA CTD_human Detail
0.005 body mass NA GAD Detail
0.003 Metabolic syndrome X NA BeFree,GAD Detail
0.008 Mood Disorders NA BeFree,GAD,LHGDN Detail
<0.001 prostate carcinoma NA BeFree Detail
<0.001 Ewings sarcoma-primitive neuroectodermal tumor (PNET) NA BeFree Detail
<0.001 stomach carcinoma NA BeFree Detail
0.015 Central neuroblastoma NA BeFree Detail
<0.001 Dissecting aneurysm of the thoracic aorta Specifically, we found a pair of TH-positive cells in the ventral region of the ... BeFree 25217291 Detail
0.080 Infarction, Middle Cerebral Artery NA RGD Detail
<0.001 Classical phenylketonuria NA BeFree Detail
<0.001 Hyperphenylalaninemia, Non-Phenylketonuric NA BeFree Detail
<0.001 Parkinsonism, Juvenile NA BeFree Detail
0.003 Lewy Body Disease NA BeFree,LHGDN Detail
<0.001 Stage 4S neuroblastoma NA BeFree Detail
0.003 attention deficit hyperactivity disorder NA BeFree,GAD Detail
<0.001 Mild cognitive disorder NA BeFree Detail
0.002 Blood pressure finding NA GAD Detail
0.005 Systemic arterial pressure NA GAD Detail
<0.001 Segmental vitiligo NA BeFree Detail
<0.001 Generalized vitiligo NA BeFree Detail
<0.001 Tendinosis NA BeFree Detail
<0.001 Dystonia 3, Torsion, X-Linked NA BeFree Detail
0.004 MAJOR AFFECTIVE DISORDER 2 NA BeFree Detail
<0.001 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) NA BeFree Detail
0.004 Dopa-responsive dystonia NA BeFree Detail
0.002 MAJOR AFFECTIVE DISORDER 1 NA BeFree Detail
0.002 MAJOR AFFECTIVE DISORDER 4 NA BeFree Detail
0.002 MAJOR AFFECTIVE DISORDER 5 NA BeFree Detail
0.002 MAJOR AFFECTIVE DISORDER 6 NA BeFree Detail
0.120 liver carcinoma NA BeFree,CTD_human Detail
0.361 DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) NA BeFree,CTD_human,ORPHANET,UNIPROT Detail
0.002 Major affective disorder 7 NA BeFree Detail
0.002 MAJOR AFFECTIVE DISORDER 8 NA BeFree Detail
0.002 MAJOR AFFECTIVE DISORDER 9 NA BeFree Detail
0.002 Weight Gain Adverse Event NA GAD Detail
<0.001 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) NA BeFree Detail
<0.001 Autoimmune polyendocrinopathy syndrome, type 1 NA BeFree Detail
0.120 intellectual disability NA CTD_human Detail
<0.001 Adjustment Disorders NA BeFree Detail
<0.001 Albinism NA BeFree Detail
0.003 Alcohol Withdrawal Delirium NA BeFree,GAD Detail
0.004 Alcoholic Intoxication, Chronic NA BeFree,GAD Detail
<0.001 Alzheimer's disease NA BeFree Detail
0.005 As If Personality NA GAD Detail
<0.001 asthma NA BeFree Detail
0.005 autistic disorder NA BeFree,GAD Detail
<0.001 Autoimmune Diseases NA BeFree Detail
0.003 Mental disorders NA BeFree,GAD Detail
0.013 bipolar disorder NA BeFree,GAD Detail
0.003 borderline personality disorder NA BeFree,GAD Detail
0.120 Brain Diseases NA CTD_human Detail
Annotation

Annotations

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Both the 9.5-cm cardiac mass and 0.5-cm lung nodule were positive for chromogranin A and tyrosine hy... DisGeNET Detail
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We found that genotype Met/Met of the Val66Met polymorphism of the brain-derived neurotrophic factor... DisGeNET Detail
We found that genotype Met/Met of the Val66Met polymorphism of the brain-derived neurotrophic factor... DisGeNET Detail
In the present study we compared monolayer-cultured (aMSC) and spheroid (sMSC) MSC following transpl... DisGeNET Detail
Loss of the Grx1 homolog also exacerbated the neurodegenerative phenotype in other C. elegans models... DisGeNET Detail
Thus, the hTH-GFP reporter rat should be a valuable tool for Parkinson's disease research. DisGeNET Detail
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We have searched for association between 119 SNPs in genes implicated in monoaminergic pathways [try... DisGeNET Detail
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Tyrosine hydroxylase TH01 9.3 allele in the occurrence of sudden infant death syndrome in Swiss Cauc... DisGeNET Detail
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Specifically, we found a pair of TH-positive cells in the ventral region of the thoracic ganglion, a... 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
rs386602118 dbSNP
Genome
hg38
Position
chr11:2,163,929-2,171,815
Variant Type
snv
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