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	chondrosarcoma

Disease ID	241
Disease	chondrosarcoma
Definition	A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)
Synonym	[m]chondrosarcoma nos [m]chondrosarcoma nos (morphologic abnormality) chondrosarcoma (disorder) chondrosarcoma (morphologic abnormality) chondrosarcoma [disease/finding] chondrosarcoma morphology chondrosarcoma, malignant chondrosarcoma, no icd-o subtype chondrosarcoma, no icd-o subtype (morphologic abnormality) chondrosarcoma, no international classification of diseases for oncology subtype chondrosarcoma, no international classification of diseases for oncology subtype (morphologic abnormality) chondrosarcoma, nos chondrosarcomas
Orphanet	ORPHANET:55880
OMIM	OMIM:215300
DOID	DOID:3371
UMLS	C0008479
MeSH	D002813
SNOMED-CT	SNOMEDCT_US_2016_09_01:443520009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:25) C0029423 \| osteochondroma \| 3 C0024454 \| maffucci syndrome \| 3 C0029423 \| osteochondromas \| 2 C0153676 \| pulmonary metastases \| 1 C0029463 \| osteosarcoma \| 1 C1334699 \| mesenchymal tumor \| 1 C0553580 \| ewing's sarcoma \| 1 C0008441 \| chondroblastoma \| 1 C0259779 \| fibrous dysplasia \| 1 C1509147 \| histiocytoma \| 1 C0034065 \| pulmonary embolism \| 1 C0334463 \| malignant fibrous histiocytoma \| 1 C0029434 \| osteogenesis imperfecta \| 1 C0023798 \| lipoma \| 1 C0025149 \| medulloblastoma \| 1 C0006142 \| breast cancer \| 1 C0008479 \| chondrosarcoma \| 1 C0016063 \| fibrous dysplasia of bone \| 1 C0019937 \| horner's syndrome \| 1 C1261473 \| sarcoma \| 1 C0014084 \| ollier disease \| 1 C0206644 \| fibrous histiocytoma \| 1 C0497327 \| dementia \| 1 C0153676 \| pulmonary metastasis \| 1 C0017636 \| glioblastoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 2131 \| EXT1 \| CLINVAR;CTD_human;ORPHANET;UNIPROT 1280 \| COL2A1 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:189) 176 \| ACAN \| 4.737 \| DISEASES 140766 \| ADAMTS14 \| 1.788 \| DISEASES 9507 \| ADAMTS4 \| 1.029 \| DISEASES 92949 \| ADAMTSL1 \| 2.329 \| DISEASES 126549 \| ANKLE1 \| 1.877 \| DISEASES 56899 \| ANKS1B \| 1.89 \| DISEASES 9582 \| APOBEC3B \| 1.003 \| DISEASES 79658 \| ARHGAP10 \| 2.133 \| DISEASES 94134 \| ARHGAP12 \| 2.597 \| DISEASES 84986 \| ARHGAP19 \| 2.461 \| DISEASES 57584 \| ARHGAP21 \| 2.225 \| DISEASES 57636 \| ARHGAP23 \| 2.728 \| DISEASES 83478 \| ARHGAP24 \| 1.747 \| DISEASES 9938 \| ARHGAP25 \| 2.457 \| DISEASES 393 \| ARHGAP4 \| 2.555 \| DISEASES 394 \| ARHGAP5 \| 1.863 \| DISEASES 395 \| ARHGAP6 \| 1.743 \| DISEASES 23779 \| ARHGAP8 \| 2.251 \| DISEASES 64333 \| ARHGAP9 \| 2.054 \| DISEASES 400500 \| BCAR4 \| 1.876 \| DISEASES 632 \| BGLAP \| 1.31 \| DISEASES 633 \| BGN \| 1.492 \| DISEASES 655 \| BMP7 \| 1.9 \| DISEASES 659 \| BMPR2 \| 1.037 \| DISEASES 7862 \| BRPF1 \| 1.647 \| DISEASES 797 \| CALCB \| 1.464 \| DISEASES 800 \| CALD1 \| 1.44 \| DISEASES 11335 \| CBX3 \| 1.078 \| DISEASES 960 \| CD44 \| 2.303 \| DISEASES 4267 \| CD99 \| 2.927 \| DISEASES 996 \| CDC27 \| 1.247 \| DISEASES 1002 \| CDH4 \| 1.362 \| DISEASES 1029 \| CDKN2A \| 2.739 \| DISEASES 1123 \| CHN1 \| 1.238 \| DISEASES 9469 \| CHST3 \| 1.976 \| DISEASES 1147 \| CHUK \| 1.508 \| DISEASES 9074 \| CLDN6 \| 1.233 \| DISEASES 64084 \| CLSTN2 \| 5.81 \| DISEASES 1303 \| COL12A1 \| 1.495 \| DISEASES 85301 \| COL27A1 \| 1.61 \| DISEASES 1280 \| COL2A1 \| 3.407 \| DISEASES 1297 \| COL9A1 \| 1.168 \| DISEASES 64764 \| CREB3L2 \| 4.346 \| DISEASES 158511 \| CSAG1 \| 2.726 \| DISEASES 1485 \| CTAG1B \| 1.37 \| DISEASES 1490 \| CTGF \| 2.888 \| DISEASES 1499 \| CTNNB1 \| 2.11 \| DISEASES 1520 \| CTSS \| 1.361 \| DISEASES 6387 \| CXCL12 \| 1.58 \| DISEASES 3491 \| CYR61 \| 1.557 \| DISEASES 51339 \| DACT1 \| 1.374 \| DISEASES 168002 \| DACT2 \| 1.676 \| DISEASES 7818 \| DAP3 \| 1.929 \| DISEASES 1649 \| DDIT3 \| 2.116 \| DISEASES 1729 \| DIAPH1 \| 2.938 \| DISEASES 1730 \| DIAPH2 \| 3.167 \| DISEASES 81624 \| DIAPH3 \| 2.156 \| DISEASES 22943 \| DKK1 \| 1.139 \| DISEASES 92737 \| DNER \| 1.351 \| DISEASES 26052 \| DNM3 \| 1.438 \| DISEASES 11117 \| EMILIN1 \| 2.048 \| DISEASES 2074 \| ERCC6 \| 1.075 \| DISEASES 2118 \| ETV4 \| 1.173 \| DISEASES 2130 \| EWSR1 \| 5.447 \| DISEASES 2131 \| EXT1 \| 5.655 \| DISEASES 2132 \| EXT2 \| 5.232 \| DISEASES 2134 \| EXTL1 \| 1.564 \| DISEASES 2135 \| EXTL2 \| 1.744 \| DISEASES 2197 \| FAU \| 1.28 \| DISEASES 54751 \| FBLIM1 \| 1.655 \| DISEASES 2246 \| FGF1 \| 1.772 \| DISEASES 2258 \| FGF13 \| 2.782 \| DISEASES 8822 \| FGF17 \| 1.391 \| DISEASES 2253 \| FGF8 \| 1.117 \| DISEASES 2260 \| FGFR1 \| 1.433 \| DISEASES 2261 \| FGFR3 \| 2.141 \| DISEASES 342184 \| FMN1 \| 2.795 \| DISEASES 752 \| FMNL1 \| 3.394 \| DISEASES 91010 \| FMNL3 \| 3.414 \| DISEASES 23048 \| FNBP1 \| 2.688 \| DISEASES 2300 \| FOXL1 \| 1.275 \| DISEASES 2308 \| FOXO1 \| 1.9 \| DISEASES 10023 \| FRAT1 \| 1.528 \| DISEASES 7855 \| FZD5 \| 1.042 \| DISEASES 8323 \| FZD6 \| 1.101 \| DISEASES 8325 \| FZD8 \| 1.166 \| DISEASES 2591 \| GALNT3 \| 2.209 \| DISEASES 2709 \| GJB5 \| 1.897 \| DISEASES 2736 \| GLI2 \| 2.415 \| DISEASES 27201 \| GPR78 \| 2.046 \| DISEASES 392862 \| GRID2IP \| 3.696 \| DISEASES 3020 \| H3F3A \| 2.168 \| DISEASES 3039 \| HBA1 \| 1.729 \| DISEASES 23462 \| HEY1 \| 3.746 \| DISEASES 3091 \| HIF1A \| 1.453 \| DISEASES 90161 \| HS6ST2 \| 1.882 \| DISEASES 266722 \| HS6ST3 \| 2.169 \| DISEASES 3303 \| HSPA1A \| 1.952 \| DISEASES 3309 \| HSPA5 \| 1.304 \| DISEASES 3339 \| HSPG2 \| 1.177 \| DISEASES 3418 \| IDH2 \| 4.13 \| DISEASES 8100 \| IFT88 \| 2.523 \| DISEASES 9641 \| IKBKE \| 1.061 \| DISEASES 387755 \| INSC \| 1.028 \| DISEASES 359948 \| IRF2BP2 \| 3.269 \| DISEASES 9445 \| ITM2B \| 1.267 \| DISEASES 3725 \| JUN \| 1.894 \| DISEASES 55818 \| KDM3A \| 1.026 \| DISEASES 3880 \| KRT19 \| 1.469 \| DISEASES 3855 \| KRT7 \| 1.94 \| DISEASES 3963 \| LGALS7 \| 1.588 \| DISEASES 5609 \| MAP2K7 \| 2.341 \| DISEASES 4217 \| MAP3K5 \| 1.857 \| DISEASES 5599 \| MAPK8 \| 1.859 \| DISEASES 4146 \| MATN1 \| 1.814 \| DISEASES 4151 \| MB \| 2.494 \| DISEASES 4193 \| MDM2 \| 3.091 \| DISEASES 9968 \| MED12 \| 1.29 \| DISEASES 388815 \| MIR99AHG \| 2.182 \| DISEASES 57496 \| MKL2 \| 1.526 \| DISEASES 4312 \| MMP1 \| 3.286 \| DISEASES 4318 \| MMP9 \| 2.167 \| DISEASES 4337 \| MOCS1 \| 1.775 \| DISEASES 4507 \| MTAP \| 2.928 \| DISEASES 2475 \| MTOR \| 1.463 \| DISEASES 4609 \| MYC \| 2.371 \| DISEASES 10499 \| NCOA2 \| 3.853 \| DISEASES 4745 \| NELL1 \| 1.173 \| DISEASES 10360 \| NPM3 \| 1.999 \| DISEASES 3164 \| NR4A1 \| 1.467 \| DISEASES 4929 \| NR4A2 \| 1.519 \| DISEASES 8013 \| NR4A3 \| 5.366 \| DISEASES 9315 \| NREP \| 1.973 \| DISEASES 93034 \| NT5C1B \| 1.248 \| DISEASES 80228 \| ORAI2 \| 1.778 \| DISEASES 100128731 \| OST4 \| 2.203 \| DISEASES 9060 \| PAPSS2 \| 2.523 \| DISEASES 142 \| PARP1 \| 1.015 \| DISEASES 55742 \| PARVA \| 1.091 \| DISEASES 29780 \| PARVB \| 1.641 \| DISEASES 5081 \| PAX7 \| 1.166 \| DISEASES 9141 \| PDCD5 \| 2.524 \| DISEASES 5328 \| PLAU \| 1.173 \| DISEASES 5501 \| PPP1CC \| 2.12 \| DISEASES 23532 \| PRAME \| 1.407 \| DISEASES 5580 \| PRKCD \| 1.021 \| DISEASES 55660 \| PRPF40A \| 2.539 \| DISEASES 25766 \| PRPF40B \| 2.273 \| DISEASES 5727 \| PTCH1 \| 2.333 \| DISEASES 5745 \| PTH1R \| 4.688 \| DISEASES 5744 \| PTHLH \| 3.163 \| DISEASES 5781 \| PTPN11 \| 1.728 \| DISEASES 26064 \| RAI14 \| 1.928 \| DISEASES 83593 \| RASSF5 \| 1.079 \| DISEASES 5933 \| RBL1 \| 1.679 \| DISEASES 6004 \| RGS16 \| 1.646 \| DISEASES 58480 \| RHOU \| 1.541 \| DISEASES 4920 \| ROR2 \| 1.055 \| DISEASES 6181 \| RPLP2 \| 1.059 \| DISEASES 6234 \| RPS28 \| 2.035 \| DISEASES 860 \| RUNX2 \| 2.434 \| DISEASES 6263 \| RYR3 \| 1.122 \| DISEASES 6284 \| S100A13 \| 1.694 \| DISEASES 5265 \| SERPINA1 \| 1.358 \| DISEASES 12 \| SERPINA3 \| 2.635 \| DISEASES 5268 \| SERPINB5 \| 1.186 \| DISEASES 871 \| SERPINH1 \| 1.609 \| DISEASES 388588 \| SMIM1 \| 1.012 \| DISEASES 23583 \| SMUG1 \| 1.683 \| DISEASES 51429 \| SNX9 \| 1.257 \| DISEASES 11166 \| SOX21 \| 1.984 \| DISEASES 6714 \| SRC \| 2.66 \| DISEASES 57522 \| SRGAP1 \| 2.629 \| DISEASES 9901 \| SRGAP3 \| 2.324 \| DISEASES 6736 \| SRY \| 1.196 \| DISEASES 6760 \| SS18 \| 2.609 \| DISEASES 6756 \| SSX1 \| 1.319 \| DISEASES 727837 \| SSX2B \| 2.325 \| DISEASES 9754 \| STARD8 \| 1.625 \| DISEASES 6832 \| SUPV3L1 \| 1.697 \| DISEASES 8148 \| TAF15 \| 4.848 \| DISEASES 6938 \| TCF12 \| 3.375 \| DISEASES 9322 \| TRIP10 \| 1.201 \| DISEASES 7422 \| VEGFA \| 2.089 \| DISEASES 11193 \| WBP4 \| 2.621 \| DISEASES 8838 \| WISP3 \| 1.81 \| DISEASES 7490 \| WT1 \| 1.993 \| DISEASES 51341 \| ZBTB7A \| 1.869 \| DISEASES 55311 \| ZNF444 \| 2.387 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) EXT1 \| 8q24.11

Disease ID	241
Disease	chondrosarcoma
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:1) HP:0006765 \| Chondrosarcoma
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:25) HP:0002664 \| Neoplasia \| 13 HP:0030431 \| Osteochondromas \| 6 HP:0006765 \| Chondrosarcoma \| 2 HP:0030038 \| Enchondroma \| 2 HP:0100242 \| Sarcoma \| 2 HP:0030432 \| Chondroblastoma \| 1 HP:0002885 \| Medulloblastoma \| 1 HP:0001289 \| Confusion \| 1 HP:0002204 \| Pulmonary embolism \| 1 HP:0002762 \| Multiple exostoses \| 1 HP:0012531 \| Pain \| 1 HP:0012063 \| Aneurysmal bone cyst \| 1 HP:0100576 \| Amaurosis fugax \| 1 HP:0000726 \| Dementia \| 1 HP:0002835 \| Aspiration \| 1 HP:0012062 \| Bone cysts \| 1 HP:0012315 \| Histiocytoma \| 1 HP:0030731 \| Carcinoma \| 1 HP:0002277 \| Horner's syndrome \| 1 HP:0100843 \| Glioblastoma \| 1 HP:0002669 \| Osteosarcoma \| 1 HP:0012032 \| Lipoma \| 1 HP:0003002 \| Breast carcinoma \| 1 HP:0030883 \| Femoroacetabular Impingement \| 1 HP:0012254 \| Ewing's sarcoma \| 1

Disease ID	241
Disease	chondrosarcoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C2248595 \| dedifferentiation C0266798 \| cord compression C0020545 \| renovascular hypertension C0019080 \| hemorrhage
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0002793 \| dedifferentiation \| 1

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

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

All Snps(Total Genotypes:10)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121913105	24324705	3141	HLCS	umls:C0008479	BeFree	Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH.	0.001628651	2013	FGFR3	4	1806163	A	C,T
rs121913105	24324705	2261	FGFR3	umls:C0008479	BeFree	Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH.	0.000271442	2013	FGFR3	4	1806163	A	C,T
rs121913105	24324705	54205	CYCS	umls:C0008479	BeFree	Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH.	0.001628651	2013	FGFR3	4	1806163	A	C,T
rs28931614	24324705	54205	CYCS	umls:C0008479	BeFree	Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH.	0.001628651	2013	FGFR3	4	1804392	G	A,C
rs28931614	24324705	3141	HLCS	umls:C0008479	BeFree	Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH.	0.001628651	2013	FGFR3	4	1804392	G	A,C
rs28931614	24324705	2261	FGFR3	umls:C0008479	BeFree	Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH.	0.000271442	2013	FGFR3	4	1804392	G	A,C
rs587776540	NA	2131	EXT1	umls:C0008479	CLINVAR	NA	0.489248887	NA	EXT1	8	118110512	GCACTTTG	-
rs78311289	24324705	3141	HLCS	umls:C0008479	BeFree	Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH.	0.001628651	2013	FGFR3	4	1806162	A	C,G
rs78311289	24324705	54205	CYCS	umls:C0008479	BeFree	Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH.	0.001628651	2013	FGFR3	4	1806162	A	C,G
rs78311289	24324705	2261	FGFR3	umls:C0008479	BeFree	Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH.	0.000271442	2013	FGFR3	4	1806162	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:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0006765	Chondrosarcoma	MP:0013774	decreased KLRG1-positive T-helper cell number	reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation

Disease ID	241
Disease	chondrosarcoma
Case	(Waiting for update.)

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