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encyclopedia of Rare Disease Annotation for Precision Medicine

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	adamantinoma

Disease ID	542
Disease	adamantinoma
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) ameloblastoma ameloblastoma (morphologic abnormality) ameloblastoma [disease/finding] ameloblastoma, nos ameloblastomas epithelioma adamantinum
Orphanet	ORPHANET:314419 ORPHANET:55881
DOID	DOID:0050894 DOID:2776
UMLS	C0002448
MeSH	D000564 D050398
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:10) C0018916 \| hemangioma \| 1 C0086692 \| benign neoplasm \| 1 C0035851 \| root resorption \| 1 C0259779 \| fibrous dysplasia \| 1 C0002448 \| ameloblastoma \| 1 C0020437 \| hypercalcemia \| 1 C0153676 \| lung metastasis \| 1 C0086692 \| benign neoplasms \| 1 C0008441 \| chondroblastoma \| 1 C0238301 \| nasopharyngeal carcinoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 673 \| BRAF \| CTD_human 6608 \| SMO \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 7157 \| TP53 \| CIPHER 6608 \| SMO \| CTD_human 673 \| BRAF \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:97) 8038 \| ADAM12 \| 1.115 \| DISEASES 79924 \| ADM2 \| 1.619 \| DISEASES 3267 \| AGFG1 \| 2.566 \| DISEASES 265 \| AMELX \| 3.997 \| DISEASES 401138 \| AMTN \| 2.786 \| DISEASES 393 \| ARHGAP4 \| 2.272 \| DISEASES 8289 \| ARID1A \| 1.762 \| DISEASES 220202 \| ATOH7 \| 1.814 \| DISEASES 2683 \| B4GALT1 \| 1.477 \| DISEASES 25805 \| BAMBI \| 1.75 \| DISEASES 632 \| BGLAP \| 1.45 \| DISEASES 650 \| BMP2 \| 2.107 \| DISEASES 655 \| BMP7 \| 1.29 \| DISEASES 682 \| BSG \| 1.204 \| DISEASES 800 \| CALD1 \| 1.756 \| DISEASES 857 \| CAV1 \| 1.05 \| DISEASES 960 \| CD44 \| 1.052 \| DISEASES 4267 \| CD99 \| 1.897 \| DISEASES 1010 \| CDH12 \| 2.43 \| DISEASES 1029 \| CDKN2A \| 1.765 \| DISEASES 1186 \| CLCN7 \| 1.367 \| DISEASES 1435 \| CSF1 \| 1.286 \| DISEASES 1499 \| CTNNB1 \| 2.89 \| DISEASES 2017 \| CTTN \| 1.779 \| DISEASES 1630 \| DCC \| 1.386 \| DISEASES 51428 \| DDX41 \| 2.154 \| DISEASES 10117 \| ENAM \| 3.574 \| DISEASES 2022 \| ENG \| 2.454 \| DISEASES 2130 \| EWSR1 \| 4.041 \| DISEASES 2157 \| F8 \| 1.987 \| DISEASES 2258 \| FGF13 \| 1.501 \| DISEASES 2248 \| FGF3 \| 1.198 \| DISEASES 2260 \| FGFR1 \| 1.163 \| DISEASES 2263 \| FGFR2 \| 1.534 \| DISEASES 2312 \| FLG \| 1.744 \| DISEASES 2314 \| FLII \| 2.463 \| DISEASES 2535 \| FZD2 \| 1.576 \| DISEASES 2736 \| GLI2 \| 2.192 \| DISEASES 2737 \| GLI3 \| 1.432 \| DISEASES 2778 \| GNAS \| 1.335 \| DISEASES 2900 \| GRIK4 \| 1.631 \| DISEASES 3039 \| HBA1 \| 1.184 \| DISEASES 3339 \| HSPG2 \| 1.822 \| DISEASES 3621 \| ING1 \| 1.399 \| DISEASES 54556 \| ING3 \| 1.108 \| DISEASES 84289 \| ING5 \| 2.262 \| DISEASES 3713 \| IVL \| 1.82 \| DISEASES 3714 \| JAG2 \| 2.624 \| DISEASES 3875 \| KRT18 \| 2.703 \| DISEASES 3875 \| KRT18 \| 1.281 \| DISEASES 3880 \| KRT19 \| 3.758 \| DISEASES 3880 \| KRT19 \| 2.39 \| DISEASES 3851 \| KRT4 \| 2.416 \| DISEASES 3855 \| KRT7 \| 2.433 \| DISEASES 3855 \| KRT7 \| 2.256 \| DISEASES 388533 \| KRTDAP \| 3.577 \| DISEASES 4192 \| MDK \| 2.167 \| DISEASES 4193 \| MDM2 \| 2.436 \| DISEASES 4311 \| MME \| 1.794 \| DISEASES 4312 \| MMP1 \| 1.456 \| DISEASES 64386 \| MMP25 \| 1.816 \| DISEASES 4318 \| MMP9 \| 3.305 \| DISEASES 4609 \| MYC \| 1.296 \| DISEASES 100132406 \| NBPF10 \| 2.505 \| DISEASES 284565 \| NBPF15 \| 3.944 \| DISEASES 55922 \| NKRF \| 1.388 \| DISEASES 4821 \| NKX2-2 \| 2.573 \| DISEASES 4855 \| NOTCH4 \| 1.999 \| DISEASES 54959 \| ODAM \| 3.212 \| DISEASES 114780 \| PKD1L2 \| 3.169 \| DISEASES 5727 \| PTCH1 \| 3.487 \| DISEASES 5744 \| PTHLH \| 2.672 \| DISEASES 8434 \| RECK \| 2.578 \| DISEASES 12 \| SERPINA3 \| 1.302 \| DISEASES 5268 \| SERPINB5 \| 1.39 \| DISEASES 9467 \| SH3BP5 \| 1.18 \| DISEASES 6513 \| SLC2A1 \| 1.245 \| DISEASES 6597 \| SMARCA4 \| 1.673 \| DISEASES 6606 \| SMN1 \| 1.158 \| DISEASES 23583 \| SMUG1 \| 1.428 \| DISEASES 677799 \| SNORA11 \| 3.966 \| DISEASES 677828 \| SNORA47 \| 3.546 \| DISEASES 26783 \| SNORA65 \| 3.374 \| DISEASES 6657 \| SOX2 \| 1.411 \| DISEASES 6696 \| SPP1 \| 1.667 \| DISEASES 6696 \| SPP1 \| 1.052 \| DISEASES 6756 \| SSX1 \| 2.18 \| DISEASES 727837 \| SSX2B \| 2.055 \| DISEASES 55858 \| TMEM165 \| 2.472 \| DISEASES 7114 \| TMSB4X \| 1.052 \| DISEASES 7124 \| TNF \| 1.072 \| DISEASES 7286 \| TUFT1 \| 2.442 \| DISEASES 11091 \| WDR5 \| 1.587 \| DISEASES 7456 \| WIPF1 \| 1.919 \| DISEASES 7477 \| WNT7B \| 1.684 \| DISEASES 7479 \| WNT8B \| 2.359 \| DISEASES 9278 \| ZBTB22 \| 1.14 \| DISEASES
Locus	(Waiting for update.)

Disease ID	542
Disease	adamantinoma
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:3) HP:0003072 \| Hypercalcemia HP:0002756 \| Pathologic fracture HP:0002653 \| Bone pain
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:16) HP:0002664 \| Neoplasia \| 12 HP:0100612 \| Odontogenic neoplasm \| 6 HP:0030731 \| Carcinoma \| 3 HP:0001028 \| Strawberry mark \| 2 HP:0010603 \| Keratocystic odontogenic tumor \| 2 HP:0001742 \| Obstruction of nose \| 1 HP:0002797 \| Increased bone resorption \| 1 HP:0000718 \| Aggressive behaviour \| 1 HP:0001974 \| Leukocytosis \| 1 HP:0030426 \| Ossifying fibroma \| 1 HP:0030432 \| Chondroblastoma \| 1 HP:0011068 \| Odontoma \| 1 HP:0012062 \| Bone cysts \| 1 HP:0012063 \| Aneurysmal bone cyst \| 1 HP:0012740 \| Papilloma \| 1 HP:0003072 \| Hypercalcemia \| 1

Disease ID	542
Disease	adamantinoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C0259779 \| fibrous dysplasia C0153676 \| pulmonary metastasis C0153676 \| pulmonary metastases
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:5) C1608408 \| malignant transformation \| 3 C0028880 \| odontogenic tumor \| 3 C0399558 \| glandular odontogenic cyst \| 3 C0259779 \| fibrous dysplasia \| 1 C0020437 \| hypercalcemia \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total 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
rs113488022	24374844	673	BRAF	umls:C0002448	BeFree	High frequency of BRAF V600E mutations in ameloblastoma.	0.121357209	2013	BRAF	7	140753336	A	T,G,C
rs113488022	24749150	673	BRAF	umls:C0002448	BeFree	That 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.	0.121357209	2014	BRAF	7	140753336	A	T,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:3)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0003072	Hypercalcemia	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002653	Bone pain	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002756	Pathologic fracture	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone

Disease ID	542
Disease	adamantinoma
Case	(Waiting for update.)

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