chr18:31557009:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr18:29,136,972-29,178,796 
hg38 chr18:31,557,009-31,598,833

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
<0.001 renal cell carcinoma NA BeFree Detail
<0.001 hypertrophic cardiomyopathy NA BeFree Detail
0.001 restrictive cardiomyopathy NA BeFree Detail
0.247 carpal tunnel syndrome NA BeFree,CTD_human,LHGDN,UNIPROT Detail
<0.001 CNS disorder NA BeFree Detail
0.080 brain ischemia NA RGD Detail
<0.001 cerebral palsy NA BeFree Detail
<0.001 cholelithiasis Total 19 protein spots were found to be different between two groups and 11 prot... BeFree 25671835 Detail
0.002 cleft palate NA GAD Detail
<0.001 colitis NA BeFree Detail
<0.001 Comatose NA BeFree Detail
<0.001 Cranial nerve diseases NA BeFree Detail
<0.001 Presenile dementia NA BeFree Detail
<0.001 Mental Depression NA BeFree Detail
<0.001 depressive disorder NA BeFree Detail
0.120 Drug Eruptions NA CTD_human Detail
<0.001 Diabetes Mellitus, Insulin-Dependent NA BeFree Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree Detail
<0.001 Down syndrome NA BeFree Detail
<0.001 Dyspnea NA BeFree Detail
<0.001 Ependymoma NA BeFree Detail
<0.001 Disorder of eye Impact of liver transplantation on the natural history of oculopathy in Portugue... BeFree 25475560 Detail
<0.001 filariasis NA BeFree Detail
0.003 glaucoma NA BeFree,LHGDN Detail
<0.001 Glioma NA BeFree Detail
<0.001 cardiac arrest NA BeFree Detail
0.003 Heart Diseases NA BeFree,GAD Detail
0.002 Heart failure NA BeFree Detail
0.003 congestive heart failure Wild-type transthyretin amyloidosis (ATTRwt), typically diagnosed as congestive ... BeFree 25367359 Detail
<0.001 hepatitis NA BeFree Detail
<0.001 hepatitis A NA BeFree Detail
0.003 Hypertensive disease NA LHGDN Detail
0.002 hyperthyroxinemia NA BeFree Detail
0.002 hypothyroidism NA GAD Detail
<0.001 influenza NA BeFree Detail
<0.001 ischemia Differences in TTR levels have been found in several neuropathologies, but its n... BeFree 25372741 Detail
<0.001 Kidney Diseases NA BeFree Detail
<0.001 Kidney Failure, Chronic Unbalanced voiding takes place in this context, with high post-void residuals, i... BeFree 25048588 Detail
<0.001 kwashiorkor NA BeFree Detail
<0.001 Leukemia, Myelocytic, Acute NA BeFree Detail
<0.001 Liver neoplasms NA BeFree Detail
0.125 Lung Neoplasms NA CTD_human,LHGDN Detail
<0.001 Machado-Joseph disease NA BeFree Detail
<0.001 medulloblastoma NA BeFree Detail
<0.001 meningioma NA BeFree Detail
<0.001 Mental Retardation NA BeFree Detail
<0.001 Monoclonal Gammopathy of Undetermined Significance NA BeFree Detail
0.003 Neoplasm Metastasis NA BeFree,LHGDN Detail
<0.001 nervous system disorder NA BeFree Detail
<0.001 Neuralgia NA BeFree Detail
<0.001 neurilemmoma NA BeFree Detail
0.002 neuroblastoma NA BeFree Detail
<0.001 Degenerative polyarthritis Transthyretin deposition in articular cartilage: a novel mechanism in the pathog... BeFree 25940564 Detail
<0.001 papilledema Macular and optic disc edema and retinal vascular leakage in familial amyloid po... BeFree 25282612 Detail
<0.001 papilloma NA BeFree Detail
<0.001 paraganglioma NA BeFree Detail
0.005 Peripheral neuropathy We report the first case of discordant expression of Lys35Thr transthyretin amyl... BeFree 25137508 Detail
<0.001 pheochromocytoma NA BeFree Detail
0.030 Adenomatous Polyposis Coli Diflunisal might be effective especially for autonomic dysfunction in late-onset... BeFree 25060417 Detail
0.030 Adenomatous Polyposis Coli Our research suggests that impairment of autophagy might be involved in the path... BeFree 25382970 Detail
0.030 Adenomatous Polyposis Coli The demonstration, by immunohistochemistry and laser micro dissection-mass spect... BeFree 25430583 Detail
0.030 Adenomatous Polyposis Coli Matrix-assisted laser desorption-ionization/time of flight mass spectrometry (MA... BeFree 25550818 Detail
0.030 Adenomatous Polyposis Coli The chronic symptoms of this disorder, termed PrP systemic amyloidosis, can be v... BeFree 25623792 Detail
0.030 Adenomatous Polyposis Coli Autonomic neuropathy is a major component of familial amyloid polyneuropathy (FA... BeFree 25973863 Detail
<0.001 presbyopia NA BeFree Detail
0.003 schizophrenia NA BeFree,GAD Detail
<0.001 Seizures NA BeFree Detail
<0.001 Shy-Drager Syndrome The transcriptome sequencing revealed increased expression of the alpha and beta... BeFree 25370810 Detail
<0.001 siderosis NA BeFree Detail
<0.001 Spinal Cord Diseases NA BeFree Detail
<0.001 Subarachnoid Hemorrhage NA BeFree Detail
<0.001 thyrotoxicosis NA BeFree Detail
<0.001 Vascular Diseases NA BeFree Detail
0.001 cerebral amyloid angiopathy NA BeFree Detail
<0.001 Neurofibrillary degeneration (morphologic abnormality) NA BeFree Detail
<0.001 Left Ventricular Hypertrophy NA BeFree Detail
<0.001 Secondary glaucoma NA BeFree Detail
0.057 polyneuropathy Discordant phenotype in monozygotic female twins with Lys35Thr TTR familial amyl... BeFree,LHGDN 25137508 Detail
0.057 polyneuropathy TTR aggregates are responsible for many amyloidosis such as familial amyloidotic... BeFree,LHGDN 25372741 Detail
0.057 polyneuropathy In TTR-familial amyloidosis with polyneuropathy, major changes have occurred ove... BeFree,LHGDN 25416603 Detail
0.057 polyneuropathy Thus, knowledge regarding important biological systems for Transthyretin clearan... BeFree,LHGDN 25519307 Detail
0.057 polyneuropathy We prospectively included 20 patients (12 male and eight female patients, mean a... BeFree,LHGDN 25526974 Detail
<0.001 Complete trisomy 18 syndrome NA BeFree Detail
<0.001 Hearing Loss, Mixed Conductive-Sensorineural NA BeFree Detail
<0.001 Disease of capillaries NA BeFree Detail
<0.001 Malnutrition NA BeFree Detail
<0.001 choroid plexus papilloma NA BeFree Detail
0.206 Amyloid Neuropathies, Familial Norfolk QOL-DN: validation of a patient reported outcome measure in transthyreti... BeFree,CTD_human,GAD,LHGDN 24738700 Detail
0.206 Amyloid Neuropathies, Familial Efficacy of diflunisal on autonomic dysfunction of late-onset familial amyloid p... BeFree,CTD_human,GAD,LHGDN 25060417 Detail
0.206 Amyloid Neuropathies, Familial Since liver transplant (LT) was introduced to treat patients with familial amylo... BeFree,CTD_human,GAD,LHGDN 25091367 Detail
0.206 Amyloid Neuropathies, Familial Macular and optic disc edema and retinal vascular leakage in familial amyloid po... BeFree,CTD_human,GAD,LHGDN 25282612 Detail
0.206 Amyloid Neuropathies, Familial Curcumin could reduce the monomer of TTR with Tyr114Cys mutation via autophagy i... BeFree,CTD_human,GAD,LHGDN 25382970 Detail
0.206 Amyloid Neuropathies, Familial A novel transthyretin variant p.H110D (H90D) as a cause of familial amyloid poly... BeFree,CTD_human,GAD,LHGDN 25430583 Detail
0.206 Amyloid Neuropathies, Familial Transthyretin familial amyloid polyneuropathy is a rare, autosomal-dominant inhe... BeFree,CTD_human,GAD,LHGDN 25526974 Detail
0.206 Amyloid Neuropathies, Familial TTR protein destabilised by TTR gene mutation is prone to dissociate from its na... BeFree,CTD_human,GAD,LHGDN 25604431 Detail
0.206 Amyloid Neuropathies, Familial The chronic symptoms of this disorder, termed PrP systemic amyloidosis, can be v... BeFree,CTD_human,GAD,LHGDN 25623792 Detail
0.206 Amyloid Neuropathies, Familial Autonomic neuropathy is a major component of familial amyloid polyneuropathy (FA... BeFree,CTD_human,GAD,LHGDN 25973863 Detail
0.007 Amyloidosis, Hereditary TTR protein destabilised by TTR gene mutation is prone to dissociate from its na... BeFree 25604431 Detail
0.013 Amyloid Neuropathies Sudomotor innervation in transthyretin amyloid neuropathy: Pathology and functio... BeFree,GAD 25973863 Detail
<0.001 hepatoblastoma NA BeFree Detail
0.003 cholangiocarcinoma NA LHGDN Detail
0.002 Reactive systemic amyloidosis NA BeFree Detail
<0.001 Ataxic NA BeFree Detail
<0.001 Peripheral motor neuropathy NA BeFree Detail
<0.001 Inclusion Body Myositis (disorder) NA BeFree Detail
<0.001 Early satiety NA BeFree Detail
<0.001 islet cell tumor NA BeFree Detail
0.003 autonomic neuropathy Autonomic neuropathy is a major component of familial amyloid polyneuropathy (FA... BeFree 25973863 Detail
<0.001 Hepatic amyloidosis NA BeFree Detail
0.010 Systemic amyloidosis Hereditary transthyretin (TTR)-related amyloidosis (ATTR) seems to be a rare aut... BeFree 25644864 Detail
<0.001 Primary amyloidosis NA BeFree Detail
<0.001 Amyloid nephropathy NA BeFree Detail
0.004 Familial Amyloid Neuropathy, Portuguese Type NA BeFree Detail
<0.001 Localized amyloidosis NA BeFree Detail
<0.001 Amyloidosis, Primary Cutaneous NA BeFree Detail
<0.001 Age-related amyloidosis NA BeFree Detail
0.024 Senile cardiac amyloidosis Patient 1 had mutations in transthyretin (TTR), fibrillin (FBN1), and a calcium ... BeFree,GAD 24664531 Detail
0.024 Senile cardiac amyloidosis (18)F-Florbetapir PET may be a promising technique to image light chain and tran... BeFree,GAD 24841414 Detail
0.024 Senile cardiac amyloidosis Our findings indicate that CNS clinical involvement occurs in ATTR-V30M patients... BeFree,GAD 25091367 Detail
0.024 Senile cardiac amyloidosis Mass spectroscopy can be used to determine the protein subunit and classify the ... BeFree,GAD 25311231 Detail
0.024 Senile cardiac amyloidosis Genetic variation of the transthyretin gene in wild-type transthyretin amyloidos... BeFree,GAD 25367359 Detail
0.024 Senile cardiac amyloidosis Sixty-six subjects (mean age = 67 ± 12 years; 20% women) with cardiac amyloidosi... BeFree,GAD 25510353 Detail
0.024 Senile cardiac amyloidosis A phase 2, open-label study in 21 patients with non-Val30Met and non-Val122Ile h... BeFree,GAD 25743445 Detail
0.024 Senile cardiac amyloidosis Cardiac amyloidosis (CA) is often misdiagnosed because of both physician-related... BeFree,GAD 25758359 Detail
0.024 Senile cardiac amyloidosis Tafamidis in transthyretin amyloid cardiomyopathy: effects on transthyretin stab... BeFree,GAD 25872787 Detail
0.024 Senile cardiac amyloidosis Usefulness of Combining Electrocardiographic and Echocardiographic Findings and ... BeFree,GAD 26253999 Detail
<0.001 propionic acidemia Under these targeted conditions, both vectors mediated significant long-term cor... BeFree 25046265 Detail
<0.001 axonal neuropathy NA BeFree Detail
0.002 Mixed sensory-motor polyneuropathy NA BeFree Detail
<0.001 Polyneuropathy, Motor NA BeFree Detail
<0.001 Biclonal gammopathy NA BeFree Detail
0.488 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. UNIPROT 12050338 Detail
<0.001 Adenocarcinoma of pancreas NA BeFree Detail
0.010 Primary Systemic Amyloidosis Hereditary transthyretin (TTR)-related amyloidosis (ATTR) seems to be a rare aut... BeFree 25644864 Detail
0.001 Senile Plaques NA BeFree Detail
<0.001 Carcinoid tumor no ICD-O subtype NA BeFree Detail
<0.001 familial hemiplegic migraine Patient 1 had mutations in transthyretin (TTR), fibrillin (FBN1), and a calcium ... BeFree 24664531 Detail
<0.001 Impaired cognition NA BeFree Detail
0.001 Amyloid of vitreous NA BeFree Detail
<0.001 Iodine deficiency syndrome NA BeFree Detail
<0.001 Maturity onset diabetes mellitus in young NA BeFree Detail
0.003 Danish type familial amyloid cardiomyopathy Mass spectroscopy can be used to determine the protein subunit and classify the ... BeFree 25311231 Detail
<0.001 Amyloid myopathy NA BeFree Detail
0.011 Senile systemic amyloidosis Transthyretin (TTR) is a major amyloid fibril protein found in patients with fam... BeFree 25550818 Detail
0.011 Senile systemic amyloidosis Analogous misfolding of wild-type TTR results in senile systemic amyloidosis, no... BeFree 25604431 Detail
<0.001 multiple system atrophy The transcriptome sequencing revealed increased expression of the alpha and beta... BeFree 25370810 Detail
<0.001 Plasma cell tumor, malignant NA BeFree Detail
<0.001 dementia NA BeFree Detail
0.003 Neurodegenerative Disorders Transthyretin (TTR) familial amyloid polyneuropathy (FAP) is an autosomal domina... BeFree 25382970 Detail
<0.001 Visual disturbance NA BeFree Detail
<0.001 Malignant glioma NA BeFree Detail
<0.001 Cerebral metastasis NA BeFree Detail
<0.001 Multisystem disorder Transthyretin familial amyloid polyneuropathy is a rare, autosomal-dominant inhe... BeFree 25526974 Detail
<0.001 Aqueous Humor Disorders NA BeFree Detail
<0.001 disabling disease NA BeFree Detail
<0.001 Inherited neuropathies NA BeFree Detail
<0.001 Progressive Neoplastic Disease NA BeFree Detail
<0.001 breast carcinoma NA BeFree Detail
<0.001 Gastrointestinal dysfunction NA BeFree Detail
<0.001 CNS metastases NA BeFree Detail
0.002 Central neuroblastoma NA BeFree Detail
<0.001 Microalbuminuria NA BeFree Detail
0.129 Amyloidosis, Familial Based on myocardial biopsy and genetic tests, the diagnosis of transthyretin fam... BeFree,CTD_human 25745667 Detail
<0.001 cardiac symptom NA BeFree Detail
<0.001 Upper Extremity Paresis NA BeFree Detail
<0.001 Polyneuropathy, Familial NA BeFree Detail
<0.001 Sigmoid Cancer NA BeFree Detail
<0.001 Ulnar Nerve Entrapment Syndrome NA BeFree Detail
<0.001 Inclusion Body Myopathy, Sporadic NA BeFree Detail
<0.001 Heredodegenerative Disorders, Nervous System NA BeFree Detail
0.120 Drug-Induced Liver Injury NA CTD_human Detail
<0.001 Familial Amyloid Polyneuropathy, Type IV NA BeFree Detail
<0.001 cholecystolithiasis Total 19 protein spots were found to be different between two groups and 11 prot... BeFree 25671835 Detail
0.002 Peripheral sensorimotor neuropathy NA GAD Detail
<0.001 Plasma cell dyscrasia NA BeFree Detail
<0.001 Monoclonal Gammapathies NA BeFree Detail
<0.001 Mild cognitive disorder NA BeFree Detail
<0.001 Degenerative disorder NA BeFree Detail
<0.001 pancreatic endocrine carcinoma NA BeFree Detail
<0.001 pancreatic ductal adenocarcinoma NA BeFree Detail
<0.001 Non-Malignant Ascites Adverse Event NA BeFree Detail
<0.001 Hereditary cardiac amyloidosis NA BeFree Detail
0.001 Aural atresia, congenital NA BeFree Detail
<0.001 Dementia, familial Danish NA BeFree Detail
0.002 liver carcinoma Peritumoral NRP-1 and VEGFR-2 expression is associated with prolonged TTR and ex... BeFree 25333267 Detail
<0.001 Chronic kidney disease stage 5 NA BeFree Detail
<0.001 Protein Misfolding Disorders NA BeFree Detail
0.488 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED Patient 1 had mutations in transthyretin (TTR), fibrillin (FBN1), and a calcium ... BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT 24664531 Detail
0.488 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED Our findings indicate that CNS clinical involvement occurs in ATTR-V30M patients... BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT 25091367 Detail
0.488 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED Genetic variation of the transthyretin gene in wild-type transthyretin amyloidos... BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT 25367359 Detail
0.488 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED A phase 2, open-label study in 21 patients with non-Val30Met and non-Val122Ile h... BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT 25743445 Detail
<0.001 Amyloid angiopathy NA BeFree Detail
<0.001 Immunoglobulin deposition disease NA BeFree Detail
<0.001 AA amyloidosis NA BeFree Detail
<0.001 Progressive cGVHD NA BeFree Detail
<0.001 Unspecified visual loss A 37-year-old Portuguese Caucasian man with Val30Met transthyretin-related famil... BeFree 25282612 Detail
0.015 Alzheimer's disease Differences in TTR levels have been found in several neuropathologies, but its n... BeFree,GAD,LHGDN 25372741 Detail
0.207 amyloidosis In silico analysis of TTR gene (coding and non-coding regions, and interactive n... BeFree,CTD_human,GAD,LHGDN 24779883 Detail
0.207 amyloidosis Noninvasive detection of cardiac involvement in patients with hereditary transth... BeFree,CTD_human,GAD,LHGDN 25211144 Detail
0.207 amyloidosis Transthyretin-related amyloidosis (ATTR) is characterized by a wide heterogeneit... BeFree,CTD_human,GAD,LHGDN 25291558 Detail
0.207 amyloidosis Mass spectroscopy can be used to determine the protein subunit and classify the ... BeFree,CTD_human,GAD,LHGDN 25311231 Detail
0.207 amyloidosis TTR aggregates are responsible for many amyloidosis such as familial amyloidotic... BeFree,CTD_human,GAD,LHGDN 25372741 Detail
0.207 amyloidosis The demonstration, by immunohistochemistry and laser micro dissection-mass spect... BeFree,CTD_human,GAD,LHGDN 25430583 Detail
0.207 amyloidosis Impact of liver transplantation on the natural history of oculopathy in Portugue... BeFree,CTD_human,GAD,LHGDN 25475560 Detail
0.207 amyloidosis Amyloidosis derived from transthyretin (TTR) molecules is typically caused by mu... BeFree,CTD_human,GAD,LHGDN 25557530 Detail
0.207 amyloidosis Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and ... BeFree,CTD_human,GAD,LHGDN 25604431 Detail
0.207 amyloidosis Asp58Ala is the predominant mutation of the TTR gene in Korean patients with her... BeFree,CTD_human,GAD,LHGDN 25644864 Detail
0.207 amyloidosis Echocardiographic and biohumoral characteristics in patients with AL and TTR amy... BeFree,CTD_human,GAD,LHGDN 25645201 Detail
0.207 amyloidosis A genealogical and clinical study of the phenotypical variation within the Swedi... BeFree,CTD_human,GAD,LHGDN 25721874 Detail
0.207 amyloidosis In conclusion, our study suggests for the first time that MSGB, in addition to i... BeFree,CTD_human,GAD,LHGDN 25828388 Detail
0.207 amyloidosis Transthyretin (TTR) amyloidosis is a progressive systemic disorder caused by mis... BeFree,CTD_human,GAD,LHGDN 25872787 Detail
0.207 amyloidosis Until recently, liver transplantation (Ltx) was the only available treatment for... BeFree,CTD_human,GAD,LHGDN 26308415 Detail
<0.001 amyotrophic lateral sclerosis NA BeFree Detail
<0.001 anemia NA BeFree Detail
<0.001 arteriosclerosis NA BeFree Detail
<0.001 atherosclerosis NA BeFree Detail
<0.001 Bone Marrow Diseases NA BeFree Detail
<0.001 Malignant neoplasm of breast NA BeFree Detail
<0.001 Carcinoid Tumor NA BeFree Detail
<0.001 Carcinoma, Papillary NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
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Total 19 protein spots were found to be different between two groups and 11 proteins were identified... DisGeNET Detail
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Impact of liver transplantation on the natural history of oculopathy in Portuguese patients with tra... DisGeNET Detail
NA DisGeNET Detail
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NA DisGeNET Detail
NA DisGeNET Detail
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Wild-type transthyretin amyloidosis (ATTRwt), typically diagnosed as congestive heart failure in eld... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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Differences in TTR levels have been found in several neuropathologies, but its neuroprotective role,... DisGeNET Detail
NA DisGeNET Detail
Unbalanced voiding takes place in this context, with high post-void residuals, increasing the rate o... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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Transthyretin deposition in articular cartilage: a novel mechanism in the pathogenesis of osteoarthr... DisGeNET Detail
Macular and optic disc edema and retinal vascular leakage in familial amyloid polyneuropathy with a ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We report the first case of discordant expression of Lys35Thr transthyretin amyloid in female monozy... DisGeNET Detail
NA DisGeNET Detail
Diflunisal might be effective especially for autonomic dysfunction in late-onset FAP with a TTR Val3... DisGeNET Detail
Our research suggests that impairment of autophagy might be involved in the pathogenesis of TTR FAP ... DisGeNET Detail
The demonstration, by immunohistochemistry and laser micro dissection-mass spectrometry (LMD/MS) tha... DisGeNET Detail
Matrix-assisted laser desorption-ionization/time of flight mass spectrometry (MALDI-TOF/MS) was also... DisGeNET Detail
The chronic symptoms of this disorder, termed PrP systemic amyloidosis, can be very disabling, and a... DisGeNET Detail
Autonomic neuropathy is a major component of familial amyloid polyneuropathy (FAP) due to mutated tr... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The transcriptome sequencing revealed increased expression of the alpha and beta haemoglobin genes i... DisGeNET Detail
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Discordant phenotype in monozygotic female twins with Lys35Thr TTR familial amyloidotic polyneuropat... DisGeNET Detail
TTR aggregates are responsible for many amyloidosis such as familial amyloidotic polyneuropathy and ... DisGeNET Detail
In TTR-familial amyloidosis with polyneuropathy, major changes have occurred over the last 30 years:... DisGeNET Detail
Thus, knowledge regarding important biological systems for Transthyretin clearance might unravel nov... DisGeNET Detail
We prospectively included 20 patients (12 male and eight female patients, mean age 47.9 years, range... DisGeNET Detail
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Norfolk QOL-DN: validation of a patient reported outcome measure in transthyretin familial amyloid p... DisGeNET Detail
Efficacy of diflunisal on autonomic dysfunction of late-onset familial amyloid polyneuropathy (TTR V... DisGeNET Detail
Since liver transplant (LT) was introduced to treat patients with familial amyloid polyneuropathy ca... DisGeNET Detail
Macular and optic disc edema and retinal vascular leakage in familial amyloid polyneuropathy with a ... DisGeNET Detail
Curcumin could reduce the monomer of TTR with Tyr114Cys mutation via autophagy in cell model of fami... DisGeNET Detail
A novel transthyretin variant p.H110D (H90D) as a cause of familial amyloid polyneuropathy in a larg... DisGeNET Detail
Transthyretin familial amyloid polyneuropathy is a rare, autosomal-dominant inherited multisystem di... DisGeNET Detail
TTR protein destabilised by TTR gene mutation is prone to dissociate from its native tetramer to mon... DisGeNET Detail
The chronic symptoms of this disorder, termed PrP systemic amyloidosis, can be very disabling, and a... DisGeNET Detail
Autonomic neuropathy is a major component of familial amyloid polyneuropathy (FAP) due to mutated tr... DisGeNET Detail
TTR protein destabilised by TTR gene mutation is prone to dissociate from its native tetramer to mon... DisGeNET Detail
Sudomotor innervation in transthyretin amyloid neuropathy: Pathology and functional correlates. DisGeNET Detail
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Autonomic neuropathy is a major component of familial amyloid polyneuropathy (FAP) due to mutated tr... DisGeNET Detail
NA DisGeNET Detail
Hereditary transthyretin (TTR)-related amyloidosis (ATTR) seems to be a rare autosomal-dominant inhe... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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Patient 1 had mutations in transthyretin (TTR), fibrillin (FBN1), and a calcium channel (CACNA1A) ge... DisGeNET Detail
(18)F-Florbetapir PET may be a promising technique to image light chain and transthyretin cardiac am... DisGeNET Detail
Our findings indicate that CNS clinical involvement occurs in ATTR-V30M patients regardless of LT. L... DisGeNET Detail
Mass spectroscopy can be used to determine the protein subunit and classify the disease as immunoglo... DisGeNET Detail
Genetic variation of the transthyretin gene in wild-type transthyretin amyloidosis (ATTRwt). DisGeNET Detail
Sixty-six subjects (mean age = 67 ± 12 years; 20% women) with cardiac amyloidosis (34 with light-cha... DisGeNET Detail
A phase 2, open-label study in 21 patients with non-Val30Met and non-Val122Ile hereditary transthyre... DisGeNET Detail
Cardiac amyloidosis (CA) is often misdiagnosed because of both physician-related and disease-related... DisGeNET Detail
Tafamidis in transthyretin amyloid cardiomyopathy: effects on transthyretin stabilization and clinic... DisGeNET Detail
Usefulness of Combining Electrocardiographic and Echocardiographic Findings and Brain Natriuretic Pe... DisGeNET Detail
Under these targeted conditions, both vectors mediated significant long-term correction of circulati... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. DisGeNET Detail
NA DisGeNET Detail
Hereditary transthyretin (TTR)-related amyloidosis (ATTR) seems to be a rare autosomal-dominant inhe... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Patient 1 had mutations in transthyretin (TTR), fibrillin (FBN1), and a calcium channel (CACNA1A) ge... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Mass spectroscopy can be used to determine the protein subunit and classify the disease as immunoglo... DisGeNET Detail
NA DisGeNET Detail
Transthyretin (TTR) is a major amyloid fibril protein found in patients with familial amyloidotic po... DisGeNET Detail
Analogous misfolding of wild-type TTR results in senile systemic amyloidosis, now termed wild-type A... DisGeNET Detail
The transcriptome sequencing revealed increased expression of the alpha and beta haemoglobin genes i... DisGeNET Detail
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Transthyretin (TTR) familial amyloid polyneuropathy (FAP) is an autosomal dominant inherited neurode... DisGeNET Detail
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Transthyretin familial amyloid polyneuropathy is a rare, autosomal-dominant inherited multisystem di... DisGeNET Detail
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Based on myocardial biopsy and genetic tests, the diagnosis of transthyretin familial amyloidosis, s... DisGeNET Detail
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Total 19 protein spots were found to be different between two groups and 11 proteins were identified... DisGeNET Detail
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Peritumoral NRP-1 and VEGFR-2 expression is associated with prolonged TTR and extended OS of HCC pat... DisGeNET Detail
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Patient 1 had mutations in transthyretin (TTR), fibrillin (FBN1), and a calcium channel (CACNA1A) ge... DisGeNET Detail
Our findings indicate that CNS clinical involvement occurs in ATTR-V30M patients regardless of LT. L... DisGeNET Detail
Genetic variation of the transthyretin gene in wild-type transthyretin amyloidosis (ATTRwt). DisGeNET Detail
A phase 2, open-label study in 21 patients with non-Val30Met and non-Val122Ile hereditary transthyre... DisGeNET Detail
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A 37-year-old Portuguese Caucasian man with Val30Met transthyretin-related familial amyloid polyneur... DisGeNET Detail
Differences in TTR levels have been found in several neuropathologies, but its neuroprotective role,... DisGeNET Detail
In silico analysis of TTR gene (coding and non-coding regions, and interactive network) and its impl... DisGeNET Detail
Noninvasive detection of cardiac involvement in patients with hereditary transthyretin associated am... DisGeNET Detail
Transthyretin-related amyloidosis (ATTR) is characterized by a wide heterogeneity of genotypes and p... DisGeNET Detail
Mass spectroscopy can be used to determine the protein subunit and classify the disease as immunoglo... DisGeNET Detail
TTR aggregates are responsible for many amyloidosis such as familial amyloidotic polyneuropathy and ... DisGeNET Detail
The demonstration, by immunohistochemistry and laser micro dissection-mass spectrometry (LMD/MS) tha... DisGeNET Detail
Impact of liver transplantation on the natural history of oculopathy in Portuguese patients with tra... DisGeNET Detail
Amyloidosis derived from transthyretin (TTR) molecules is typically caused by mutations of the TTR g... DisGeNET Detail
Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying tr... DisGeNET Detail
Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyreti... DisGeNET Detail
Echocardiographic and biohumoral characteristics in patients with AL and TTR amyloidosis at diagnosi... DisGeNET Detail
A genealogical and clinical study of the phenotypical variation within the Swedish transthyretin His... DisGeNET Detail
In conclusion, our study suggests for the first time that MSGB, in addition to its high sensitivity ... DisGeNET Detail
Transthyretin (TTR) amyloidosis is a progressive systemic disorder caused by misfolded TTR monomers ... DisGeNET Detail
Until recently, liver transplantation (Ltx) was the only available treatment for hereditary transthy... 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
rs28933980 dbSNP
Genome
hg38
Position
chr18:31,557,009-31,598,833
Variant Type
snv
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