| disease_description | Intellectual Disability,Congenital Abnormality,alcohol use disorder,EXOSTOSES, MULTIPLE, TYPE II,Hypercholesterolemia, Familial,Posttransfusion viral hepatitis,Hepatitis,Autistic Disorder,Langer-Giedion Syndrome,Liver diseases,Conduct Disorder,Irido-corneo-trabecular dysgenesis (disorder),Chondroma,Disorder of skeletal system,Hepatitis, Chronic,HIV Infections,Malignant neoplasm of breast,Hay fever,Steroid-sensitive nephrotic syndrome,Skin carcinoma,Renal Failure, Progressive, with Hypertension,Cartilaginous exostosis,Trichorhinophalangeal syndrome,Congenital chromosomal disease,Mucopolysaccharidoses,Fragile X chromosome,Breast Carcinoma,Mental Retardation,Staphylococcal Scalded Skin Syndrome,Alcohol problem,Acute hepatitis,Diabetes Mellitus, Non-Insulin-Dependent,Dysmorphism,Tumor Progression,Liver carcinoma,Secondary Chondrosarcoma,Rheumatoid Arthritis,Carcinogenesis,Bone Diseases,leukemia,Multiple Myeloma,Nephrotic Syndrome,Autosomal dominant hereditary disorder,Osteochondromatosis,H |
| Primary information |
|---|
| gene_name | EXT1 |
| Humcfs Id | Humcfs_2472 |
| chromosome_number | chromosome8 |
| name | FRA8E |
| chrlocation | 117700001-127300000 |
| cytoband | 8q24.1 |
| type | DistamycinA |
| frequency | Rare |
| gene_ensembl_id | ENSG00000182197 |
| havana_transcript_id | OTTHUMT00000132770 |
| gene_location | 117830237-118110414 |
| gene_orientation | - |
| exon_id | ENSE00001723926, ENSE00001731734, ENSE00003688421, ENSE00001326832, ENSE00001707712 |
| exon_number | 5 |
| gene_description | exostosin glycosyltransferase 1 |
| disease_description | Intellectual Disability,Congenital Abnormality,alcohol use disorder,EXOSTOSES, MULTIPLE, TYPE II,Hypercholesterolemia, Familial,Posttransfusion viral hepatitis,Hepatitis,Autistic Disorder,Langer-Giedion Syndrome,Liver diseases,Conduct Disorder,Irido-corneo-trabecular dysgenesis (disorder),Chondroma,Disorder of skeletal system,Hepatitis, Chronic,HIV Infections,Malignant neoplasm of breast,Hay fever,Steroid-sensitive nephrotic syndrome,Skin carcinoma,Renal Failure, Progressive, with Hypertension,Cartilaginous exostosis,Trichorhinophalangeal syndrome,Congenital chromosomal disease,Mucopolysaccharidoses,Fragile X chromosome,Breast Carcinoma,Mental Retardation,Staphylococcal Scalded Skin Syndrome,Alcohol problem,Acute hepatitis,Diabetes Mellitus, Non-Insulin-Dependent,Dysmorphism,Tumor Progression,Liver carcinoma,Secondary Chondrosarcoma,Rheumatoid Arthritis,Carcinogenesis,Bone Diseases,leukemia,Multiple Myeloma,Nephrotic Syndrome,Autosomal dominant hereditary disorder,Osteochondromatosis,H |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | FISH |
| PMID | 9460496 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |