PedAM
Pediatric Disease Annotations & Medicines
| infantile myofibromatosis | ||||
| Disease ID | 290 |
|---|---|
| Disease | infantile myofibromatosis |
| Definition | A condition characterized by multiple formations of myofibromas (LEIOMYOMA). |
| Synonym | [m] myofibromatosis [m] myofibromatosis (morphologic abnormality) infantile hemangiopericytoma juvenile fibromatosis multicentric myofibromatosis myofibromatoses myofibromatosis myofibromatosis (disorder) myofibromatosis (morphologic abnormality) myofibromatosis [disease/finding] |
| Orphanet | |
| DOID | |
| UMLS | C0206648 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:40) 2735 | GLI1 | DISEASES 4292 | MLH1 | DISEASES 4436 | MSH2 | DISEASES 2956 | MSH6 | DISEASES 4656 | MYOG | DISEASES 4654 | MYOD1 | DISEASES 2521 | FUS | DISEASES 5159 | PDGFRB | DISEASES 4854 | NOTCH3 | DISEASES 90 | ACVR1 | DISEASES 2247 | FGF2 | DISEASES 5395 | PMS2 | DISEASES 4628 | MYH10 | DISEASES 4851 | NOTCH1 | DISEASES 4613 | MYCN | DISEASES 9965 | FGF19 | DISEASES 4869 | NPM1 | DISEASES 6778 | STAT6 | DISEASES 118429 | ANTXR2 | DISEASES 947 | CD34 | DISEASES 10611 | PDLIM5 | DISEASES 64764 | CREB3L2 | DISEASES 83658 | DYNLRB1 | DISEASES 60 | ACTB | DISEASES 728378 | POTEF | DISEASES 4763 | NF1 | DISEASES 4151 | MB | DISEASES 4916 | NTRK3 | DISEASES 800 | CALD1 | DISEASES 1490 | CTGF | DISEASES 4000 | LMNA | DISEASES 4855 | NOTCH4 | DISEASES 7010 | TEK | DISEASES 1645 | AKR1C1 | DISEASES 4267 | CD99 | DISEASES 65009 | NDRG4 | DISEASES 2120 | ETV6 | DISEASES 2130 | EWSR1 | DISEASES 5793 | PTPRG | DISEASES 4914 | NTRK1 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 290 |
|---|---|
| Disease | infantile myofibromatosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:28) HP:0007400 | Irregular hyperpigmentation HP:0000929 | Abnormality of the skull HP:0002797 | Osteolysis HP:0003011 | Abnormality of the musculature HP:0000934 | Chondrocalcinosis HP:0000077 | Abnormality of the kidney HP:0004374 | Hemiplegia/hemiparesis HP:0100242 | Sarcoma HP:0001595 | Abnormality of the hair HP:0000169 | Gingival fibromatosis HP:0100835 | Benign neoplasm of the central nervous system HP:0200042 | Skin ulcer HP:0000478 | Abnormality of the eye HP:0005107 | Abnormality of the sacrum HP:0005214 | Intestinal obstruction HP:0001376 | Limitation of joint mobility HP:0002894 | Neoplasm of the pancreas HP:0003072 | Hypercalcemia HP:0012062 | Bone cyst HP:0100526 | Neoplasm of the lung HP:0000765 | Abnormality of the thorax HP:0002575 | Tracheoesophageal fistula HP:0002242 | Abnormality of the intestine HP:0000271 | Abnormality of the face HP:0008069 | Neoplasm of the skin HP:0001482 | Subcutaneous nodule HP:0000944 | Abnormality of the metaphyses HP:0010614 | Fibroma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 290 |
|---|---|
| Disease | infantile myofibromatosis |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs144050370 | NA | 5159 | PDGFRB | umls:C0432284 | CLINVAR | NA | 0.361085767 | NA | PDGFRB | 5 | 150124295 | G | T |
| rs144050370 | 23731542 | 5159 | PDGFRB | umls:C0432284 | UNIPROT | Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. | 0.361085767 | 2013 | PDGFRB | 5 | 150124295 | G | T |
| rs367543285 | NA | 4854 | NOTCH3 | umls:C0432284 | CLINVAR | NA | 0.240271442 | NA | NOTCH3 | 19 | 15174248 | A | G |
| rs367543286 | NA | 5159 | PDGFRB | umls:C0432284 | CLINVAR | NA | 0.361085767 | NA | PDGFRB | 5 | 150125571 | G | A |
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:0000077 | Abnormality of the kidney | MP:0004754 | abnormal kidney collecting duct morphology;HP:0003011 | Abnormality of the musculature |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000077 | Abnormality of the kidney | MP:0011250 | abdominal situs ambiguus;HP:0003011 | Abnormality of the musculature |
Chemical(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |