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	gestational trophoblastic neoplasm

Disease ID	199
Disease	gestational trophoblastic neoplasm
Definition	Disorder characterized by abnormal proliferation of trophoblasts during pregnancy, of a type which is invasive or metastatic.
Synonym	gestational trophoblastic disease gestational trophoblastic neopl gestational trophoblastic neoplasia gestational trophoblastic neoplasia (disorder) gestational trophoblastic neoplasia (morphologic abnormality) gestational trophoblastic neoplasm (disorder) gestational trophoblastic neoplasm (morphologic abnormality) gestational trophoblastic neoplasms gestational trophoblastic tumor gestational trophoblastic tumor (disorder) gestational trophoblastic tumour neoplasia, gestational trophoblastic neoplasm, gestational trophoblastic neoplasms, gestational trophoblastic persistent gestational trophoblastic disease persistent trophoblastic disease trophoblastic neopl gestational trophoblastic neoplasia, gestational trophoblastic neoplasm, gestational trophoblastic neoplasms, gestational trophoblastic tumor gtt trophoblastic tumor, gestational
Orphanet	ORPHANET:254685 ORPHANET:59305
OMIM	OMIM:231090
DOID	DOID:3590
UMLS	C1135868
MeSH	D031901
SNOMED-CT	SNOMEDCT_US_2016_09_01:609519004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:9) C0032987 \| ectopic pregnancy \| 2 C0153676 \| lung metastasis \| 1 C0153676 \| pulmonary metastases \| 1 C0020550 \| hyperthyroidism \| 1 C0494165 \| hepatic metastasis \| 1 C0040127 \| thyrotoxic crisis \| 1 C0153676 \| lung metastases \| 1 C0153676 \| pulmonary metastasis \| 1 C0028754 \| obesity \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 199713 \| NLRP7 \| CLINVAR 5460 \| POU5F1 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 7040 \| TGFB1 \| CIPHER 5460 \| POU5F1 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:99) 2 \| A2M \| 1.614 \| DISEASES 8038 \| ADAM12 \| 1.115 \| DISEASES 174 \| AFP \| 3.247 \| DISEASES 284 \| ANGPT1 \| 1.176 \| DISEASES 84364 \| ARFGAP2 \| 3.223 \| DISEASES 7917 \| BAG6 \| 1.101 \| DISEASES 596 \| BCL2 \| 1.172 \| DISEASES 778 \| CACNA1F \| 1.012 \| DISEASES 23607 \| CD2AP \| 3.511 \| DISEASES 1028 \| CDKN1C \| 5.516 \| DISEASES 1029 \| CDKN2A \| 1.263 \| DISEASES 94027 \| CGB7 \| 1.459 \| DISEASES 94115 \| CGB8 \| 2.88 \| DISEASES 1192 \| CLIC1 \| 1.67 \| DISEASES 1443 \| CSH2 \| 5.226 \| DISEASES 10675 \| CSPG5 \| 1.594 \| DISEASES 29119 \| CTNNA3 \| 1.523 \| DISEASES 1781 \| DYNC1I2 \| 1.273 \| DISEASES 9166 \| EBAG9 \| 2.191 \| DISEASES 253738 \| EBF3 \| 2.062 \| DISEASES 1995 \| ELAVL3 \| 1.823 \| DISEASES 2086 \| ERV3-1 \| 3.453 \| DISEASES 405754 \| ERVFRD-1 \| 2.626 \| DISEASES 2098 \| ESD \| 1.993 \| DISEASES 2187 \| FANCB \| 1.375 \| DISEASES 356 \| FASLG \| 1.739 \| DISEASES 2274 \| FHL2 \| 2.933 \| DISEASES 27022 \| FOXD3 \| 1.07 \| DISEASES 2302 \| FOXJ1 \| 1.644 \| DISEASES 23732 \| FRRS1L \| 2.428 \| DISEASES 2512 \| FTL \| 1.995 \| DISEASES 85569 \| GALP \| 1.679 \| DISEASES 2689 \| GH2 \| 2.338 \| DISEASES 3039 \| HBA1 \| 1.357 \| DISEASES 3105 \| HLA-A \| 2.475 \| DISEASES 3135 \| HLA-G \| 1.997 \| DISEASES 57061 \| HYMAI \| 3.821 \| DISEASES 3399 \| ID3 \| 1.016 \| DISEASES 3400 \| ID4 \| 1.05 \| DISEASES 3481 \| IGF2 \| 2.318 \| DISEASES 100423062 \| IGLL5 \| 1.099 \| DISEASES 10984 \| KCNQ1OT1 \| 2.14 \| DISEASES 10945 \| KDELR1 \| 2.078 \| DISEASES 154288 \| KHDC3L \| 5.701 \| DISEASES 374654 \| KIF7 \| 1.902 \| DISEASES 3814 \| KISS1 \| 2.216 \| DISEASES 3875 \| KRT18 \| 2.418 \| DISEASES 3855 \| KRT7 \| 1.485 \| DISEASES 3980 \| LIG3 \| 3.154 \| DISEASES 4318 \| MMP9 \| 1.034 \| DISEASES 4582 \| MUC1 \| 1.244 \| DISEASES 23054 \| NCOA6 \| 2.05 \| DISEASES 55655 \| NLRP2 \| 4.151 \| DISEASES 126206 \| NLRP5 \| 3.491 \| DISEASES 199713 \| NLRP7 \| 6.736 \| DISEASES 4831 \| NME2 \| 1.849 \| DISEASES 190 \| NR0B1 \| 4.239 \| DISEASES 10298 \| PAK4 \| 1.268 \| DISEASES 23022 \| PALLD \| 1.487 \| DISEASES 5069 \| PAPPA \| 1.887 \| DISEASES 5142 \| PDE4B \| 1.305 \| DISEASES 23089 \| PEG10 \| 2.064 \| DISEASES 5178 \| PEG3 \| 2.425 \| DISEASES 8863 \| PER3 \| 1.147 \| DISEASES 5228 \| PGF \| 1.994 \| DISEASES 5236 \| PGM1 \| 1.367 \| DISEASES 5325 \| PLAGL1 \| 2.205 \| DISEASES 57475 \| PLEKHH1 \| 3.573 \| DISEASES 5494 \| PPM1A \| 2.246 \| DISEASES 5673 \| PSG5 \| 3.147 \| DISEASES 5698 \| PSMB9 \| 1.79 \| DISEASES 135250 \| RAET1E \| 1.421 \| DISEASES 6007 \| RHD \| 1.74 \| DISEASES 55819 \| RNF130 \| 2.194 \| DISEASES 6050 \| RNH1 \| 1.06 \| DISEASES 6241 \| RRM2 \| 1.121 \| DISEASES 9672 \| SDC3 \| 1.76 \| DISEASES 6906 \| SERPINA7 \| 1.572 \| DISEASES 5268 \| SERPINB5 \| 1.832 \| DISEASES 5269 \| SERPINB6 \| 1.145 \| DISEASES 5272 \| SERPINB9 \| 1.366 \| DISEASES 8910 \| SGCE \| 1.886 \| DISEASES 10019 \| SH2B3 \| 1.057 \| DISEASES 9467 \| SH3BP5 \| 1.091 \| DISEASES 6462 \| SHBG \| 1.367 \| DISEASES 23583 \| SMUG1 \| 1.311 \| DISEASES 54212 \| SNTG1 \| 2.798 \| DISEASES 56910 \| STARD7 \| 3.369 \| DISEASES 9338 \| TCEAL1 \| 2.925 \| DISEASES 10732 \| TCFL5 \| 2.008 \| DISEASES 7091 \| TLE4 \| 1.899 \| DISEASES 22954 \| TRIM32 \| 1.492 \| DISEASES 7398 \| USP1 \| 1.658 \| DISEASES 79679 \| VTCN1 \| 1.057 \| DISEASES 7481 \| WNT11 \| 1.365 \| DISEASES 7518 \| XRCC4 \| 1.089 \| DISEASES 346171 \| ZFP57 \| 2.017 \| DISEASES 79692 \| ZNF322 \| 1.433 \| DISEASES 81931 \| ZNF93 \| 3.325 \| DISEASES
Locus	(Waiting for update.)

Disease ID	199
Disease	gestational trophoblastic neoplasm
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:3) HP:0400008 \| Menometrorrhagia HP:0005268 \| Spontaneous abortion HP:0011433 \| High maternal serum chorionic gonadotropin
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:6) HP:0001513 \| Obesity \| 1 HP:0030731 \| Carcinoma \| 1 HP:0100806 \| Sepsis \| 1 HP:0100718 \| Uterine rupture \| 1 HP:0000836 \| Overactive thyroid \| 1 HP:0003764 \| Naevus \| 1

Disease ID	199
Disease	gestational trophoblastic neoplasm
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0020550 \| hyperthyroidism \| 1

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

Text Mining Genotype(Total 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
rs104895530	NA	199713	NLRP7	umls:C2931618	CLINVAR	NA	0.12	NA	NLRP7	19	54939525	G	A
rs104895548	NA	199713	NLRP7	umls:C2931618	CLINVAR	NA	0.12	NA	NLRP7	19	54939626	A	C
rs104895549	NA	199713	NLRP7	umls:C2931618	CLINVAR	NA	0.12	NA	NCR1;NLRP7	19	54938222	G	A
rs104895553	NA	199713	NLRP7	umls:C2931618	CLINVAR	NA	0.12	NA	NLRP7	19	54940945	-	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:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0005268	Spontaneous abortion	MP:0020040	decreased bone ossification	decrease 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

Disease ID	199
Disease	gestational trophoblastic neoplasm
Case	(Waiting for update.)

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