chr2:219418377:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:220,283,099-220,291,456 |
| hg38 | chr2:219,418,377-219,426,734 |
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 | squamous cell carcinoma | NA | BeFree | Detail | |
| 0.005 | hypertrophic cardiomyopathy | NA | BeFree,GAD | Detail | |
| 0.007 | restrictive cardiomyopathy | NA | BeFree,GAD,LHGDN | Detail | |
| 0.003 | Colonic Neoplasms | NA | LHGDN | Detail | |
| <0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| <0.001 | Corneal Diseases | NA | BeFree | Detail | |
| <0.001 | Decompression Sickness | NA | BeFree | Detail | |
| <0.001 | scleroderma | NA | BeFree | Detail | |
| <0.001 | Diabetes Mellitus, Insulin-Dependent | NA | BeFree | Detail | |
| 0.001 | glioblastoma | NA | BeFree | Detail | |
| <0.001 | Glioma | NA | BeFree | Detail | |
| 0.120 | glomerulonephritis | NA | CTD_human | Detail | |
| <0.001 | Heart block | NA | BeFree | Detail | |
| <0.001 | congenital heart defects | NA | BeFree | Detail | |
| <0.001 | Heart Diseases | NA | BeFree | Detail | |
| 0.001 | Heart failure | Up-regulation was evident for muscle LIM protein (Mlp), desmin, and heart failur... | BeFree | 25541130 | Detail |
| 0.002 | congestive heart failure | Up-regulation was evident for muscle LIM protein (Mlp), desmin, and heart failur... | BeFree | 25541130 | Detail |
| <0.001 | hepatitis B | NA | BeFree | Detail | |
| 0.002 | Fibroid Tumor | By comparing the interstitial fluid profile of the leiomyoma with that of the no... | BeFree | 25738828 | Detail |
| <0.001 | leiomyosarcoma | NA | BeFree | Detail | |
| <0.001 | leukemia | NA | BeFree | Detail | |
| <0.001 | Leukoplakia | NA | BeFree | Detail | |
| 0.120 | Animal Mammary Neoplasms | NA | CTD_human | Detail | |
| 0.120 | Mammary Neoplasms, Experimental | NA | CTD_human | Detail | |
| <0.001 | melanoma | NA | BeFree | Detail | |
| <0.001 | Mental Retardation | NA | BeFree | Detail | |
| <0.001 | Microphthalmos | NA | BeFree | Detail | |
| <0.001 | muscular atrophy | NA | BeFree | Detail | |
| <0.001 | muscular dystrophy | NA | BeFree | Detail | |
| <0.001 | myocardial infarction | NA | BeFree | Detail | |
| 0.001 | Neoplasm Metastasis | Vimentin is an intermediate filament protein whose expression correlates with in... | BeFree | 24858039 | Detail |
| <0.001 | Neoplasms, Vascular Tissue | NA | BeFree | Detail | |
| <0.001 | nephroblastoma | NA | BeFree | Detail | |
| 0.120 | nephrosis | NA | CTD_human | Detail | |
| <0.001 | neurilemmoma | NA | BeFree | Detail | |
| <0.001 | neuroblastoma | NA | BeFree | Detail | |
| 0.002 | Neuromuscular Diseases | NA | BeFree | Detail | |
| <0.001 | oligodendroglioma | NA | BeFree | Detail | |
| 0.001 | Paresis | NA | BeFree | Detail | |
| <0.001 | pulmonary fibrosis | NA | BeFree | Detail | |
| 0.002 | rhabdomyosarcoma | NA | BeFree | Detail | |
| 0.003 | schizophrenia | NA | LHGDN | Detail | |
| <0.001 | systemic scleroderma | NA | BeFree | Detail | |
| <0.001 | Dermatologic disorders | Expression of the intermediate filament protein keratin 17 (K17) is robustly upr... | BeFree | 26168014 | Detail |
| 0.120 | Stomach Neoplasms | NA | CTD_human | Detail | |
| <0.001 | thymoma | NA | BeFree | Detail | |
| 0.002 | Uterine Fibroids | By comparing the interstitial fluid profile of the leiomyoma with that of the no... | BeFree | 25738828 | Detail |
| <0.001 | Varicosity | NA | BeFree | Detail | |
| <0.001 | von Willebrand Disease | NA | BeFree | Detail | |
| <0.001 | epidermolysis bullosa simplex | NA | BeFree | Detail | |
| <0.001 | Atrophic condition of skin | NA | BeFree | Detail | |
| <0.001 | Complete atrioventricular block | NA | BeFree | Detail | |
| <0.001 | Myocardial Ischemia | NA | BeFree | Detail | |
| 0.001 | Muscle Weakness | NA | BeFree | Detail | |
| 0.001 | centronuclear myopathy | NA | BeFree | Detail | |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| <0.001 | Myopathies, Nemaline | NA | BeFree | Detail | |
| <0.001 | Rhabdomyosarcoma, Embryonal | NA | BeFree | Detail | |
| <0.001 | embryonal carcinoma | NA | BeFree | Detail | |
| <0.001 | Inclusion Body Myositis (disorder) | NA | BeFree | Detail | |
| 0.001 | Gastrointestinal Stromal Tumors | NA | BeFree | Detail | |
| <0.001 | Myofibroblastoma | NA | BeFree | Detail | |
| <0.001 | Multiple tumors | Vimentin is an intermediate filament protein whose expression correlates with in... | BeFree | 24858039 | Detail |
| 0.001 | Alexander disease | NA | BeFree | Detail | |
| 0.001 | Congenital myopathy (disorder) | NA | BeFree | Detail | |
| 0.564 | MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED | Structural and functional analysis of a new desmin variant causing desmin-relate... | UNIPROT | 11668632 | Detail |
| <0.001 | blastema predominant Wilms' tumor | NA | BeFree | Detail | |
| <0.001 | Solid tumour | NA | BeFree | Detail | |
| <0.001 | desmoplastic small round cell tumor | We present a 51 year old female patient with a pelvic desmoplastic small round c... | BeFree | 25755805 | Detail |
| <0.001 | Transitional cell carcinoma in situ | NA | BeFree | Detail | |
| <0.001 | Carcinoid tumor no ICD-O subtype | NA | BeFree | Detail | |
| <0.001 | malignant fibrous histiocytoma | NA | BeFree | Detail | |
| <0.001 | anaplastic oligodendroglioma | NA | BeFree | Detail | |
| 0.001 | Familial dilated cardiomyopathy | NA | BeFree | Detail | |
| <0.001 | Right ventricular dilatation | Here, we show that iASPP is expressed at intercalated discs in human and mouse p... | BeFree | 25691752 | Detail |
| 0.001 | Arrhythmogenic Right Ventricular Dysplasia | Here, we show that iASPP is expressed at intercalated discs in human and mouse p... | BeFree | 25691752 | Detail |
| <0.001 | dermatofibrosarcoma protuberans | NA | BeFree | Detail | |
| <0.001 | Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) | NA | BeFree | Detail | |
| <0.001 | X-linked centronuclear myopathy | NA | BeFree | Detail | |
| <0.001 | Malignant glioma | NA | BeFree | Detail | |
| <0.001 | Weakness of limb | NA | BeFree | Detail | |
| 0.120 | hyperhomocysteinemia | NA | CTD_human | Detail | |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Muscular Dystrophies, Limb-Girdle | NA | BeFree | Detail | |
| <0.001 | colon carcinoma | NA | BeFree | Detail | |
| <0.001 | Central neuroblastoma | NA | BeFree | Detail | |
| <0.001 | cardiac symptom | NA | BeFree | Detail | |
| 0.003 | Distal Muscular Dystrophies | NA | BeFree | Detail | |
| <0.001 | Well Differentiated Oligodendroglioma | NA | BeFree | Detail | |
| <0.001 | lymphangioleiomyomatosis | NA | BeFree | Detail | |
| <0.001 | congenital structural myopathy | NA | BeFree | Detail | |
| 0.011 | Cardiomyopathies | Mutations of the human desmin gene on chromosome 2q35 cause autosomal dominant, ... | BeFree,GAD | 25394388 | Detail |
| 0.011 | Cardiomyopathies | Mutations in the gene coding for desmin (DES) cause skeletal myopathies often co... | BeFree,GAD | 25541946 | Detail |
| <0.001 | Hurthle Cell Tumor | NA | BeFree | Detail | |
| <0.001 | respiratory failure | NA | BeFree | Detail | |
| 0.001 | sarcoma | NA | BeFree | Detail | |
| <0.001 | Histiocytoma, Angiomatoid Fibrous | NA | BeFree | Detail | |
| <0.001 | Oncocytic Neoplasm | NA | BeFree | Detail | |
| <0.001 | Cardiomyopathy, Familial Idiopathic | NA | BeFree | Detail | |
| <0.001 | oxyphilic adenoma | NA | BeFree | Detail | |
| <0.001 | colorectal cancer | NA | BeFree | Detail | |
| 0.005 | Disorder of skeletal muscle | Mutations in the gene coding for desmin (DES) cause skeletal myopathies often co... | BeFree | 25541946 | Detail |
| <0.001 | tumor vasculature | NA | BeFree | Detail | |
| 0.564 | MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED | We examined 22 patients from 8 families with dominantly inherited myofibrillar o... | UNIPROT | 10717012 | Detail |
| <0.001 | Low grade myofibroblastic sarcoma | NA | BeFree | Detail | |
| <0.001 | Sclerosing epithelioid fibrosarcoma | NA | BeFree | Detail | |
| <0.001 | giant axonal neuropathy 1 | Intermediate filament protein accumulation in motor neurons derived from giant a... | BeFree | 25398950 | Detail |
| <0.001 | NONAKA MYOPATHY | NA | BeFree | Detail | |
| 0.001 | CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) | NA | BeFree | Detail | |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| 0.007 | myofibrillar myopathy | Two desmin gene mutations associated with myofibrillar myopathies in Polish fami... | BeFree | 25541946 | Detail |
| <0.001 | Epidermolysa bullosa simplex and limb girdle muscular dystrophy | NA | BeFree | Detail | |
| <0.001 | Vacuolar myopathy | Specifically, cytoskeletal derangement and the accumulation of aggregated protei... | BeFree | 25557463 | Detail |
| <0.001 | Acute flaccid paralysis | NA | BeFree | Detail | |
| <0.001 | adenoma | Loss of IHH from Apc(HET) mice changed the composition of the adenoma stroma; ce... | BeFree | 25307863 | Detail |
| <0.001 | amyotrophic lateral sclerosis | NA | BeFree | Detail | |
| <0.001 | Astrocytoma | NA | BeFree | Detail | |
| 0.120 | atrial fibrillation | NA | CTD_human | Detail | |
| 0.001 | atrioventricular block | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of breast | NA | BeFree | Detail | |
| <0.001 | Carcinoid Tumor | NA | BeFree | Detail | |
| <0.001 | Malignant tumor of colon | NA | BeFree | Detail | |
| <0.001 | renal cell carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Up-regulation was evident for muscle LIM protein (Mlp), desmin, and heart failure (natriuretic pepti... | DisGeNET | Detail |
| Up-regulation was evident for muscle LIM protein (Mlp), desmin, and heart failure (natriuretic pepti... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| By comparing the interstitial fluid profile of the leiomyoma with that of the normal myometrium, the... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Vimentin is an intermediate filament protein whose expression correlates with increased metastatic d... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Expression of the intermediate filament protein keratin 17 (K17) is robustly upregulated in inflamma... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| By comparing the interstitial fluid profile of the leiomyoma with that of the normal myometrium, the... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Vimentin is an intermediate filament protein whose expression correlates with increased metastatic d... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Structural and functional analysis of a new desmin variant causing desmin-related myopathy. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We present a 51 year old female patient with a pelvic desmoplastic small round cell tumor with an un... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Here, we show that iASPP is expressed at intercalated discs in human and mouse postmitotic cardiomyo... | DisGeNET | Detail |
| Here, we show that iASPP is expressed at intercalated discs in human and mouse postmitotic cardiomyo... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutations of the human desmin gene on chromosome 2q35 cause autosomal dominant, autosomal recessive ... | DisGeNET | Detail |
| Mutations in the gene coding for desmin (DES) cause skeletal myopathies often combined with cardiomy... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutations in the gene coding for desmin (DES) cause skeletal myopathies often combined with cardiomy... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We examined 22 patients from 8 families with dominantly inherited myofibrillar or desmin-related myo... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPS... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Two desmin gene mutations associated with myofibrillar myopathies in Polish families. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Specifically, cytoskeletal derangement and the accumulation of aggregated proteins such as desmin ma... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Loss of IHH from Apc(HET) mice changed the composition of the adenoma stroma; cells that expressed α... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
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
- rs28930075 dbSNP
- Genome
- hg38
- Position
- chr2:219,418,377-219,426,734
- Variant Type
- snv
Genome browser