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PedAM

Pediatric Disease Annotations & Medicines



   ameloblastoma
  

Disease ID 1012
Disease ameloblastoma
Definition
An immature epithelial tumor of the JAW originating from the epithelial rests of Malassez or from other epithelial remnants of the ENAMEL from the developmental period. It is a slowly growing tumor, usually benign, but displays a marked propensity for invasive growth.
Synonym
[m]ameloblastoma nos
[m]ameloblastoma nos (morphologic abnormality)
adamantinoma
ameloblastoma (morphologic abnormality)
ameloblastoma [disease/finding]
ameloblastoma, nos
ameloblastomas
epithelioma adamantinum
Orphanet
DOID
UMLS
C0002448
MeSH
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:11)
C0018916  |  hemangioma  |  2
C0035851  |  root resorption  |  2
C0206721  |  inverted papilloma  |  1
C0153676  |  pulmonary metastasis  |  1
C0086692  |  benign neoplasm  |  1
C0153676  |  lung metastasis  |  1
C0020437  |  hypercalcemia  |  1
C0020437  |  hypercalcaemia  |  1
C0086692  |  benign neoplasms  |  1
C0238301  |  nasopharyngeal carcinoma  |  1
C0030354  |  papilloma  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
SMO  |  6608  |  CTD_human
BRAF  |  673  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:1)
7157  |  TP53  |  infer
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:201)
6591  |  SNAI2  |  DISEASES
7132  |  TNFRSF1A  |  DISEASES
3861  |  KRT14  |  DISEASES
3861  |  KRT14  |  DISEASES
10777  |  ARPP21  |  DISEASES
266  |  AMELY  |  DISEASES
9352  |  TXNL1  |  DISEASES
7076  |  TIMP1  |  DISEASES
4313  |  MMP2  |  DISEASES
1048  |  CEACAM5  |  DISEASES
8976  |  WASL  |  DISEASES
7473  |  WNT3  |  DISEASES
3381  |  IBSP  |  DISEASES
595  |  CCND1  |  DISEASES
4254  |  KITLG  |  DISEASES
2735  |  GLI1  |  DISEASES
4172  |  MCM3  |  DISEASES
6678  |  SPARC  |  DISEASES
1746  |  DLX2  |  DISEASES
4488  |  MSX2  |  DISEASES
8600  |  TNFSF11  |  DISEASES
1748  |  DLX4  |  DISEASES
8743  |  TNFSF10  |  DISEASES
4656  |  MYOG  |  DISEASES
3229  |  HOXC13  |  DISEASES
652  |  BMP4  |  DISEASES
57152  |  SLURP1  |  DISEASES
3860  |  KRT13  |  DISEASES
4654  |  MYOD1  |  DISEASES
968  |  CD68  |  DISEASES
3852  |  KRT5  |  DISEASES
3848  |  KRT1  |  DISEASES
2670  |  GFAP  |  DISEASES
3866  |  KRT15  |  DISEASES
3958  |  LGALS3  |  DISEASES
6382  |  SDC1  |  DISEASES
182  |  JAG1  |  DISEASES
10894  |  LYVE1  |  DISEASES
4853  |  NOTCH2  |  DISEASES
324  |  APC  |  DISEASES
5004  |  ORM1  |  DISEASES
9313  |  MMP20  |  DISEASES
4001  |  LMNB1  |  DISEASES
5525  |  PPP2R5A  |  DISEASES
999  |  CDH1  |  DISEASES
8312  |  AXIN1  |  DISEASES
7077  |  TIMP2  |  DISEASES
1326  |  MAP3K8  |  DISEASES
6598  |  SMARCB1  |  DISEASES
6855  |  SYP  |  DISEASES
2817  |  GPC1  |  DISEASES
7474  |  WNT5A  |  DISEASES
2255  |  FGF10  |  DISEASES
4171  |  MCM2  |  DISEASES
7472  |  WNT2  |  DISEASES
6595  |  SMARCA2  |  DISEASES
11070  |  TMEM115  |  DISEASES
1000  |  CDH2  |  DISEASES
7157  |  TP53  |  DISEASES
3858  |  KRT10  |  DISEASES
207  |  AKT1  |  DISEASES
93650  |  ACPT  |  DISEASES
388  |  RHOB  |  DISEASES
6423  |  SFRP2  |  DISEASES
1956  |  EGFR  |  DISEASES
8795  |  TNFRSF10B  |  DISEASES
4851  |  NOTCH1  |  DISEASES
60496  |  AASDHPPT  |  DISEASES
5741  |  PTH  |  DISEASES
267  |  AMFR  |  DISEASES
3856  |  KRT8  |  DISEASES
3856  |  KRT8  |  DISEASES
7471  |  WNT1  |  DISEASES
3889  |  KRT83  |  DISEASES
10630  |  PDPN  |  DISEASES
10630  |  PDPN  |  DISEASES
2487  |  FRZB  |  DISEASES
6997  |  TDGF1  |  DISEASES
3148  |  HMGB2  |  DISEASES
6469  |  SHH  |  DISEASES
4982  |  TNFRSF11B  |  DISEASES
7480  |  WNT10B  |  DISEASES
3868  |  KRT16  |  DISEASES
5604  |  MAP2K1  |  DISEASES
8313  |  AXIN2  |  DISEASES
121340  |  SP7  |  DISEASES
5734  |  PTGER4  |  DISEASES
23788  |  MTCH2  |  DISEASES
3688  |  ITGB1  |  DISEASES
5308  |  PITX2  |  DISEASES
255239  |  ANKK1  |  DISEASES
6698  |  SPRR1A  |  DISEASES
794  |  CALB2  |  DISEASES
27087  |  B3GAT1  |  DISEASES
4323  |  MMP14  |  DISEASES
3872  |  KRT17  |  DISEASES
7015  |  TERT  |  DISEASES
947  |  CD34  |  DISEASES
947  |  CD34  |  DISEASES
1163  |  CKS1B  |  DISEASES
258  |  AMBN  |  DISEASES
10102  |  TSFM  |  DISEASES
3291  |  HSD11B2  |  DISEASES
4684  |  NCAM1  |  DISEASES
8289  |  ARID1A  |  DISEASES
54556  |  ING3  |  DISEASES
84289  |  ING5  |  DISEASES
3039  |  HBA1  |  DISEASES
4312  |  MMP1  |  DISEASES
6657  |  SOX2  |  DISEASES
2535  |  FZD2  |  DISEASES
2314  |  FLII  |  DISEASES
1435  |  CSF1  |  DISEASES
3714  |  JAG2  |  DISEASES
3855  |  KRT7  |  DISEASES
3855  |  KRT7  |  DISEASES
5727  |  PTCH1  |  DISEASES
682  |  BSG  |  DISEASES
2248  |  FGF3  |  DISEASES
64386  |  MMP25  |  DISEASES
23583  |  SMUG1  |  DISEASES
857  |  CAV1  |  DISEASES
388533  |  KRTDAP  |  DISEASES
7479  |  WNT8B  |  DISEASES
401138  |  AMTN  |  DISEASES
7477  |  WNT7B  |  DISEASES
1499  |  CTNNB1  |  DISEASES
100132406  |  NBPF10  |  DISEASES
6597  |  SMARCA4  |  DISEASES
11091  |  WDR5  |  DISEASES
7456  |  WIPF1  |  DISEASES
4192  |  MDK  |  DISEASES
2157  |  F8  |  DISEASES
4311  |  MME  |  DISEASES
2736  |  GLI2  |  DISEASES
800  |  CALD1  |  DISEASES
3880  |  KRT19  |  DISEASES
3880  |  KRT19  |  DISEASES
632  |  BGLAP  |  DISEASES
8038  |  ADAM12  |  DISEASES
3713  |  IVL  |  DISEASES
2312  |  FLG  |  DISEASES
7286  |  TUFT1  |  DISEASES
284565  |  NBPF15  |  DISEASES
393  |  ARHGAP4  |  DISEASES
2258  |  FGF13  |  DISEASES
2778  |  GNAS  |  DISEASES
4318  |  MMP9  |  DISEASES
2022  |  ENG  |  DISEASES
220202  |  ATOH7  |  DISEASES
3339  |  HSPG2  |  DISEASES
4855  |  NOTCH4  |  DISEASES
727837  |  SSX2B  |  DISEASES
25805  |  BAMBI  |  DISEASES
3621  |  ING1  |  DISEASES
2017  |  CTTN  |  DISEASES
6756  |  SSX1  |  DISEASES
4821  |  NKX2-2  |  DISEASES
8434  |  RECK  |  DISEASES
4609  |  MYC  |  DISEASES
650  |  BMP2  |  DISEASES
2683  |  B4GALT1  |  DISEASES
7114  |  TMSB4X  |  DISEASES
6606  |  SMN1  |  DISEASES
265  |  AMELX  |  DISEASES
4267  |  CD99  |  DISEASES
55858  |  TMEM165  |  DISEASES
1010  |  CDH12  |  DISEASES
1186  |  CLCN7  |  DISEASES
5268  |  SERPINB5  |  DISEASES
9467  |  SH3BP5  |  DISEASES
3875  |  KRT18  |  DISEASES
3875  |  KRT18  |  DISEASES
12  |  SERPINA3  |  DISEASES
6696  |  SPP1  |  DISEASES
6696  |  SPP1  |  DISEASES
79924  |  ADM2  |  DISEASES
655  |  BMP7  |  DISEASES
5744  |  PTHLH  |  DISEASES
2737  |  GLI3  |  DISEASES
10117  |  ENAM  |  DISEASES
54959  |  ODAM  |  DISEASES
3267  |  AGFG1  |  DISEASES
1630  |  DCC  |  DISEASES
2260  |  FGFR1  |  DISEASES
1029  |  CDKN2A  |  DISEASES
960  |  CD44  |  DISEASES
7124  |  TNF  |  DISEASES
2130  |  EWSR1  |  DISEASES
2900  |  GRIK4  |  DISEASES
9278  |  ZBTB22  |  DISEASES
2263  |  FGFR2  |  DISEASES
6513  |  SLC2A1  |  DISEASES
4193  |  MDM2  |  DISEASES
51428  |  DDX41  |  DISEASES
55922  |  NKRF  |  DISEASES
3851  |  KRT4  |  DISEASES
114780  |  PKD1L2  |  DISEASES
677799  |  SNORA11  |  DISEASES
677828  |  SNORA47  |  DISEASES
26783  |  SNORA65  |  DISEASES
Locus(Waiting for update.)
Disease ID 1012
Disease ameloblastoma
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:13)
HP:0002664  |  Neoplasia  |  10
HP:0100612  |  Odontogenic neoplasm  |  4
HP:0030731  |  Carcinoma  |  4
HP:0003072  |  Hypercalcemia  |  2
HP:0000718  |  Aggressive behaviour  |  2
HP:0001028  |  Strawberry mark  |  2
HP:0001974  |  Leukocytosis  |  1
HP:0012740  |  Papilloma  |  1
HP:0012062  |  Bone cysts  |  1
HP:0012063  |  Aneurysmal bone cyst  |  1
HP:0011068  |  Odontoma  |  1
HP:0001742  |  Obstruction of nose  |  1
HP:0010603  |  Keratocystic odontogenic tumor  |  1
Disease ID 1012
Disease ameloblastoma
Manually Symptom(Waiting for update.)
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:5)
C1608408  |  malignant transformation  |  4
C0399558  |  glandular odontogenic cyst  |  3
C0028880  |  odontogenic tumor  |  3
C0153676  |  pulmonary metastasis  |  1
C0020437  |  hypercalcemia  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:2)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs11348802224374844673BRAFumls:C0002448BeFreeHigh frequency of BRAF V600E mutations in ameloblastoma.0.1213572092013BRAF7140753336AT,G,C
rs11348802224749150673BRAFumls:C0002448BeFreeThat this therapy was not effective in another primary cell culture led to the discovery of the oncogenic BRAF V600E mutation in a high proportion (63%) of ameloblastoma samples.0.1213572092014BRAF7140753336AT,G,C
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
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.)