eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| mucocutaneous venous malformations | ||||
| Disease ID | 1333 |
|---|---|
| Disease | mucocutaneous venous malformations |
| Synonym | multiple cutaneous and mucosal venous malformation multiple cutaneous and mucosal venous malformations multiple venous malformation of skin and mucous membrane multiple venous malformation of skin and mucous membrane (disorder) venous malformations, multiple cutaneous and mucosal |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1838437 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:13) 94 | ACVRL1 | 2.926 | DISEASES 83605 | CCM2 | 3.276 | DISEASES 2303 | FOXC2 | 3.187 | DISEASES 11146 | GLMN | 4.214 | DISEASES 8517 | IKBKG | 2.642 | DISEASES 889 | KRIT1 | 3.129 | DISEASES 4855 | NOTCH4 | 2.223 | DISEASES 11235 | PDCD10 | 3.5 | DISEASES 5728 | PTEN | 1.209 | DISEASES 4089 | SMAD4 | 1.981 | DISEASES 54345 | SOX18 | 3.908 | DISEASES 8831 | SYNGAP1 | 3.676 | DISEASES 7010 | TEK | 2.322 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) TEK | 9p21.2 |
| Disease ID | 1333 |
|---|---|
| Disease | mucocutaneous venous malformations |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:3) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1333 |
|---|---|
| Disease | mucocutaneous venous malformations |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs387906745 | NA | 7010 | TEK | umls:C1838437 | CLINVAR | NA | 0.480271442 | NA | TEK | 9 | 27212764 | G | A |
| rs80338908 | NA | 7010 | TEK | umls:C1838437 | CLINVAR | NA | 0.480271442 | NA | TEK | 9 | 27206762 | C | T |
| rs80338909 | NA | 7010 | TEK | umls:C1838437 | CLINVAR | NA | 0.480271442 | NA | TEK | 9 | 27212710 | A | C,G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000153 | Abnormality of the mouth | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
Mapped by homologous gene(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000153 | Abnormality of the mouth | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002584 | Intestinal bleeding | MP:0013328 | visceromegaly | abnormal enlargement of the viscera, esp. internal organs in the abdomen, including liver, spleen, stomach, kidneys, and pancreas |
| HP:0012721 | Venous malformation | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| Disease ID | 1333 |
|---|---|
| Disease | mucocutaneous venous malformations |
| Case | (Waiting for update.) |