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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   kaposi sarcoma
  

Disease ID 108
Disease kaposi sarcoma
Definition
A multicentric, malignant neoplastic vascular proliferation characterized by the development of bluish-red cutaneous nodules, usually on the lower extremities, most often on the toes or feet, and slowly increasing in size and number and spreading to more proximal areas. The tumors have endothelium-lined channels and vascular spaces admixed with variably sized aggregates of spindle-shaped cells, and often remain confined to the skin and subcutaneous tissue, but widespread visceral involvement may occur. Kaposi's sarcoma occurs spontaneously in Jewish and Italian males in Europe and the United States. An aggressive variant in young children is endemic in some areas of Africa. A third form occurs in about 0.04% of kidney transplant patients. There is also a high incidence in AIDS patients. (From Dorland, 27th ed & Holland et al., Cancer Medicine, 3d ed, pp2105-7) HHV-8 is the suspected cause.
Synonym
[m]kaposi's sarcoma
[x]kaposi's sarcoma, unspecified
[x]kaposi's sarcoma, unspecified (disorder)
endotheliosarcoma
hhv 8
hhv8
kaposi cancer, sarcoma
kaposi sarcoma, morphology
kaposi's sarcoma
kaposi's sarcoma (clinical)
kaposi's sarcoma (disorder)
kaposi's sarcoma (morphologic abnormality)
kaposi's sarcoma nos
kaposi's sarcoma, morphology
kaposi's sarcoma, morphology (morphologic abnormality)
kaposi's sarcoma, unspecified
kaposi's sarcoma, unspecified site
kaposis sarcoma
ks - kaposi's sarcoma
multiple haemorrhagic sarcoma
multiple hemorrhagic sarcoma
multiple idiopathic pigmented hemangiosarcoma
sarcoma, kaposi
sarcoma, kaposi [disease/finding]
sarcoma, kaposi's
sarcoma, multiple hemorrhagic
sarcoma, multiple idiopathic hemorrhagic
skin cancer, kaposi's sarcoma
Orphanet
DOID
ICD10
UMLS
C0036220
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:65)
C1261473  |  sarcoma  |  7
C0024299  |  lymphoma  |  7
C0001175  |  acquired immunodeficiency syndrome  |  4
C0036220  |  kaposi's sarcoma  |  4
C0024305  |  non-hodgkin lymphoma  |  3
C0030807  |  pemphigus  |  3
C0024299  |  lymphomas  |  3
C0019829  |  hodgkin lymphoma  |  3
C0011603  |  dermatitis  |  2
C0017665  |  membranous glomerulonephritis  |  2
C0030809  |  pemphigus vulgaris  |  2
C0024205  |  lymphadenitis  |  2
C0024314  |  lymphoproliferative disorders  |  2
C0024314  |  lymphoproliferative disorder  |  2
C0036220  |  kaposi sarcoma  |  2
C0079731  |  b-cell lymphoma  |  1
C0152025  |  polyneuropathy  |  1
C0040261  |  onychomycosis  |  1
C0021831  |  enteropathy  |  1
C0026896  |  myasthenia gravis  |  1
C0017636  |  glioblastoma  |  1
C0026764  |  multiple myeloma  |  1
C0009319  |  colitis  |  1
C0039128  |  syphilis  |  1
C0079731  |  non-hodgkin's b-cell lymphoma  |  1
C0024236  |  lymphedema  |  1
C0007102  |  colon cancer  |  1
C0009324  |  ulcerative colitis  |  1
C0030326  |  panniculitis  |  1
C0026393  |  molluscum contagiosum  |  1
C0042900  |  vitiligo  |  1
C0014742  |  erythema multiforme  |  1
C0007137  |  squamous cell carcinomas  |  1
C0149985  |  secondary syphilis  |  1
C0042373  |  vascular disease  |  1
C0042373  |  vascular diseases  |  1
C0005684  |  bladder cancer  |  1
C0026764  |  myeloma  |  1
C0007137  |  squamous cell carcinoma  |  1
C0017658  |  glomerulonephritis  |  1
C0023418  |  leukemia  |  1
C0001173  |  gastric outlet obstruction  |  1
C0003873  |  rheumatoid arthritis  |  1
C0022661  |  chronic renal failure  |  1
C0023827  |  liposarcoma  |  1
C0004134  |  ataxia  |  1
C0033860  |  psoriasis  |  1
C0011615  |  atopic dermatitis  |  1
C0036202  |  sarcoidosis  |  1
C0037274  |  dermatological disorder  |  1
C0021400  |  influenza  |  1
C0011847  |  diabetes  |  1
C0024291  |  hemophagocytic syndrome  |  1
C0238301  |  nasopharyngeal carcinoma  |  1
C0040558  |  toxoplasmosis  |  1
C0026769  |  multiple sclerosis  |  1
C1261473  |  sarcomas  |  1
C0003615  |  appendicitis  |  1
C0033680  |  protein-losing enteropathy  |  1
C0035078  |  renal failure  |  1
C0221406  |  cushing disease  |  1
C0085669  |  acute leukemia  |  1
C0751967  |  relapsing-remitting multiple sclerosis  |  1
C0003864  |  arthritis  |  1
C0030805  |  bullous pemphigoid  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
3569  |  IL6  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:8)
3569  |  IL6  |  CIPHER;CTD_human
2214  |  FCGR3A  |  CIPHER
3106  |  HLA-B  |  CIPHER
3119  |  HLA-DQB1  |  CIPHER
3123  |  HLA-DRB1  |  CIPHER
3126  |  HLA-DRB4  |  CIPHER
3127  |  HLA-DRB5  |  CIPHER
7157  |  TP53  |  CIPHER
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:244)
55  |  ACPP  |  1.144  |  DISEASES
94  |  ACVRL1  |  1.269  |  DISEASES
123624  |  AGBL1  |  2.074  |  DISEASES
283  |  ANG  |  1.99  |  DISEASES
51378  |  ANGPT4  |  1.099  |  DISEASES
307  |  ANXA4  |  1.89  |  DISEASES
9138  |  ARHGEF1  |  1.167  |  DISEASES
8874  |  ARHGEF7  |  1.563  |  DISEASES
10620  |  ARID3B  |  1.322  |  DISEASES
220202  |  ATOH7  |  1.69  |  DISEASES
567  |  B2M  |  2.218  |  DISEASES
9564  |  BCAR1  |  1.899  |  DISEASES
6046  |  BRD2  |  3.36  |  DISEASES
682  |  BSG  |  2.006  |  DISEASES
390259  |  BSX  |  1.25  |  DISEASES
9689  |  BZW1  |  2.104  |  DISEASES
721  |  C4B  |  2.405  |  DISEASES
834  |  CASP1  |  2.107  |  DISEASES
840  |  CASP7  |  2.207  |  DISEASES
841  |  CASP8  |  2.358  |  DISEASES
6364  |  CCL20  |  1.461  |  DISEASES
388372  |  CCL4L1  |  1.704  |  DISEASES
8812  |  CCNK  |  1.393  |  DISEASES
1232  |  CCR3  |  2.127  |  DISEASES
1237  |  CCR8  |  3.581  |  DISEASES
930  |  CD19  |  2.959  |  DISEASES
4345  |  CD200  |  1.863  |  DISEASES
958  |  CD40  |  1.597  |  DISEASES
959  |  CD40LG  |  2.34  |  DISEASES
942  |  CD86  |  2.409  |  DISEASES
157313  |  CDCA2  |  1.5  |  DISEASES
1003  |  CDH5  |  2.324  |  DISEASES
1029  |  CDKN2A  |  1.132  |  DISEASES
1050  |  CEBPA  |  2.068  |  DISEASES
1063  |  CENPF  |  1.952  |  DISEASES
26097  |  CHTOP  |  1.986  |  DISEASES
1147  |  CHUK  |  1.891  |  DISEASES
10519  |  CIB1  |  2.001  |  DISEASES
1154  |  CISH  |  1.33  |  DISEASES
387836  |  CLEC2A  |  1.01  |  DISEASES
10087  |  COL4A3BP  |  1.189  |  DISEASES
23412  |  COMMD3  |  1.285  |  DISEASES
1380  |  CR2  |  1.848  |  DISEASES
8738  |  CRADD  |  1.25  |  DISEASES
1385  |  CREB1  |  2.049  |  DISEASES
1499  |  CTNNB1  |  1.478  |  DISEASES
8065  |  CUL5  |  2.441  |  DISEASES
2919  |  CXCL1  |  2.241  |  DISEASES
6387  |  CXCL12  |  1.012  |  DISEASES
2833  |  CXCR3  |  1.215  |  DISEASES
7919  |  DDX39B  |  3.029  |  DISEASES
414325  |  DEFB103A  |  1.039  |  DISEASES
55894  |  DEFB103B  |  1.038  |  DISEASES
7913  |  DEK  |  1.871  |  DISEASES
1719  |  DHFR  |  1.845  |  DISEASES
1730  |  DIAPH2  |  2.828  |  DISEASES
81624  |  DIAPH3  |  1.794  |  DISEASES
29102  |  DROSHA  |  1.451  |  DISEASES
1850  |  DUSP8  |  1.7  |  DISEASES
1906  |  EDN1  |  1.028  |  DISEASES
1907  |  EDN2  |  1.491  |  DISEASES
1908  |  EDN3  |  1.74  |  DISEASES
1945  |  EFNA4  |  1.248  |  DISEASES
1974  |  EIF4A2  |  1.555  |  DISEASES
1977  |  EIF4E  |  1.286  |  DISEASES
1981  |  EIF4G1  |  1.641  |  DISEASES
1969  |  EPHA2  |  2.589  |  DISEASES
2050  |  EPHB4  |  1.011  |  DISEASES
29924  |  EPN1  |  1.48  |  DISEASES
2060  |  EPS15  |  1.678  |  DISEASES
3266  |  ERAS  |  2.695  |  DISEASES
30816  |  ERVW-1  |  1.182  |  DISEASES
2113  |  ETS1  |  2.026  |  DISEASES
2157  |  F8  |  2.03  |  DISEASES
54954  |  FAM120C  |  3.081  |  DISEASES
355  |  FAS  |  1.01  |  DISEASES
2214  |  FCGR3A  |  1.449  |  DISEASES
2246  |  FGF1  |  2.295  |  DISEASES
2248  |  FGF3  |  1.12  |  DISEASES
2263  |  FGFR2  |  1.162  |  DISEASES
2358  |  FPR2  |  1.022  |  DISEASES
2633  |  GBP1  |  2.132  |  DISEASES
7918  |  GPANK1  |  1.48  |  DISEASES
2932  |  GSK3B  |  1.255  |  DISEASES
3005  |  H1F0  |  2.485  |  DISEASES
3039  |  HBA1  |  4.326  |  DISEASES
414768  |  HCG24  |  2.307  |  DISEASES
23462  |  HEY1  |  1.953  |  DISEASES
9146  |  HGS  |  1.362  |  DISEASES
3091  |  HIF1A  |  1.983  |  DISEASES
8359  |  HIST1H4A  |  1.165  |  DISEASES
8366  |  HIST1H4B  |  1.165  |  DISEASES
8364  |  HIST1H4C  |  1.165  |  DISEASES
8360  |  HIST1H4D  |  1.163  |  DISEASES
8367  |  HIST1H4E  |  1.165  |  DISEASES
8361  |  HIST1H4F  |  1.165  |  DISEASES
8294  |  HIST1H4I  |  1.165  |  DISEASES
8363  |  HIST1H4J  |  1.165  |  DISEASES
8362  |  HIST1H4K  |  1.165  |  DISEASES
8368  |  HIST1H4L  |  1.165  |  DISEASES
8337  |  HIST2H2AA3  |  3.042  |  DISEASES
8338  |  HIST2H2AC  |  3.042  |  DISEASES
8349  |  HIST2H2BE  |  2.75  |  DISEASES
8370  |  HIST2H4A  |  1.165  |  DISEASES
554313  |  HIST2H4B  |  1.165  |  DISEASES
121504  |  HIST4H4  |  1.165  |  DISEASES
3096  |  HIVEP1  |  1.643  |  DISEASES
3105  |  HLA-A  |  2.642  |  DISEASES
3133  |  HLA-E  |  1.009  |  DISEASES
11100  |  HNRNPUL1  |  2.759  |  DISEASES
3320  |  HSP90AA1  |  1.769  |  DISEASES
3376  |  IARS  |  1.042  |  DISEASES
3428  |  IFI16  |  2.445  |  DISEASES
3451  |  IFNA17  |  2.333  |  DISEASES
3440  |  IFNA2  |  3.338  |  DISEASES
3456  |  IFNB1  |  2.958  |  DISEASES
3459  |  IFNGR1  |  1.159  |  DISEASES
3551  |  IKBKB  |  1.857  |  DISEASES
8517  |  IKBKG  |  2.487  |  DISEASES
3586  |  IL10  |  1.924  |  DISEASES
3570  |  IL6R  |  1.825  |  DISEASES
3572  |  IL6ST  |  1.302  |  DISEASES
54556  |  ING3  |  1.119  |  DISEASES
10527  |  IPO7  |  1.254  |  DISEASES
3654  |  IRAK1  |  1.283  |  DISEASES
3660  |  IRF2  |  2.637  |  DISEASES
3662  |  IRF4  |  3.035  |  DISEASES
3665  |  IRF7  |  3.654  |  DISEASES
10379  |  IRF9  |  1.511  |  DISEASES
9636  |  ISG15  |  1.46  |  DISEASES
3716  |  JAK1  |  1.889  |  DISEASES
3725  |  JUN  |  2.376  |  DISEASES
3803  |  KIR2DL2  |  1.098  |  DISEASES
374454  |  KRT77  |  2.231  |  DISEASES
51520  |  LARS  |  1.661  |  DISEASES
4049  |  LTA  |  1.515  |  DISEASES
80740  |  LY6G6C  |  1.952  |  DISEASES
4067  |  LYN  |  2.041  |  DISEASES
4094  |  MAF  |  1.339  |  DISEASES
84061  |  MAGT1  |  1.101  |  DISEASES
4121  |  MAN1A1  |  1.259  |  DISEASES
5609  |  MAP2K7  |  1.845  |  DISEASES
5599  |  MAPK8  |  1.967  |  DISEASES
115004  |  MB21D1  |  2.562  |  DISEASES
4170  |  MCL1  |  1.317  |  DISEASES
4193  |  MDM2  |  2.53  |  DISEASES
4204  |  MECP2  |  1.404  |  DISEASES
9968  |  MED12  |  3.348  |  DISEASES
9439  |  MED23  |  1.239  |  DISEASES
81857  |  MED25  |  1.578  |  DISEASES
2315  |  MLANA  |  1.486  |  DISEASES
4311  |  MME  |  1.149  |  DISEASES
4318  |  MMP9  |  1.036  |  DISEASES
2475  |  MTOR  |  3.262  |  DISEASES
4609  |  MYC  |  2.991  |  DISEASES
150372  |  NFAM1  |  1.796  |  DISEASES
4926  |  NUMA1  |  1.152  |  DISEASES
4942  |  OAT  |  1.001  |  DISEASES
29948  |  OSGIN1  |  1.468  |  DISEASES
23241  |  PACS2  |  1.78  |  DISEASES
5154  |  PDGFA  |  1.543  |  DISEASES
5155  |  PDGFB  |  2.179  |  DISEASES
5203  |  PFDN4  |  2.005  |  DISEASES
5208  |  PFKFB2  |  1.086  |  DISEASES
5228  |  PGF  |  1.263  |  DISEASES
26227  |  PHGDH  |  1.117  |  DISEASES
23533  |  PIK3R5  |  1.028  |  DISEASES
5328  |  PLAU  |  1.407  |  DISEASES
5329  |  PLAUR  |  1.342  |  DISEASES
5336  |  PLCG2  |  1.943  |  DISEASES
56342  |  PPAN  |  1.452  |  DISEASES
639  |  PRDM1  |  1.238  |  DISEASES
5590  |  PRKCZ  |  2.413  |  DISEASES
29968  |  PSAT1  |  1.307  |  DISEASES
5743  |  PTGS2  |  1.441  |  DISEASES
5747  |  PTK2  |  2.56  |  DISEASES
2185  |  PTK2B  |  1.31  |  DISEASES
5788  |  PTPRC  |  3.021  |  DISEASES
90780  |  PYGO2  |  1.103  |  DISEASES
8480  |  RAE1  |  1.759  |  DISEASES
2889  |  RAPGEF1  |  1.051  |  DISEASES
64783  |  RBM15  |  2.487  |  DISEASES
9939  |  RBM8A  |  1.884  |  DISEASES
3516  |  RBPJ  |  4.687  |  DISEASES
1827  |  RCAN1  |  1.045  |  DISEASES
5965  |  RECQL  |  1.515  |  DISEASES
5970  |  RELA  |  2.123  |  DISEASES
387  |  RHOA  |  1.973  |  DISEASES
6041  |  RNASEL  |  1.489  |  DISEASES
6093  |  ROCK1  |  1.102  |  DISEASES
6144  |  RPL21  |  1.288  |  DISEASES
6195  |  RPS6KA1  |  3.006  |  DISEASES
6196  |  RPS6KA2  |  3.345  |  DISEASES
6197  |  RPS6KA3  |  3.169  |  DISEASES
6295  |  SAG  |  1.28  |  DISEASES
84324  |  SARNP  |  1.362  |  DISEASES
6401  |  SELE  |  2.207  |  DISEASES
26054  |  SENP6  |  1.281  |  DISEASES
5265  |  SERPINA1  |  1.009  |  DISEASES
25970  |  SH2B1  |  1.27  |  DISEASES
6450  |  SH3BGR  |  2.685  |  DISEASES
6451  |  SH3BGRL  |  2.514  |  DISEASES
6614  |  SIGLEC1  |  1.375  |  DISEASES
4090  |  SMAD5  |  1.301  |  DISEASES
9126  |  SMC3  |  1.996  |  DISEASES
26770  |  SNORD79  |  1.791  |  DISEASES
6693  |  SPN  |  1.117  |  DISEASES
6714  |  SRC  |  3.029  |  DISEASES
6731  |  SRP72  |  1.047  |  DISEASES
10772  |  SRSF10  |  1.268  |  DISEASES
6428  |  SRSF3  |  1.674  |  DISEASES
54879  |  ST7L  |  1.583  |  DISEASES
246329  |  STAC3  |  1.12  |  DISEASES
10617  |  STAMBP  |  1.324  |  DISEASES
6772  |  STAT1  |  2.151  |  DISEASES
8801  |  SUCLG2  |  1.118  |  DISEASES
7341  |  SUMO1  |  1.959  |  DISEASES
6613  |  SUMO2  |  3.542  |  DISEASES
6612  |  SUMO3  |  3.571  |  DISEASES
6839  |  SUV39H1  |  1.795  |  DISEASES
6850  |  SYK  |  1.307  |  DISEASES
26115  |  TANC2  |  1.848  |  DISEASES
29110  |  TBK1  |  1.79  |  DISEASES
7010  |  TEK  |  1.062  |  DISEASES
7058  |  THBS2  |  1.49  |  DISEASES
7075  |  TIE1  |  1.677  |  DISEASES
7124  |  TNF  |  2.863  |  DISEASES
8718  |  TNFRSF25  |  2.029  |  DISEASES
7293  |  TNFRSF4  |  1.151  |  DISEASES
8771  |  TNFRSF6B  |  1.002  |  DISEASES
27010  |  TPK1  |  1.43  |  DISEASES
7187  |  TRAF3  |  1.423  |  DISEASES
10346  |  TRIM22  |  1.187  |  DISEASES
7874  |  USP7  |  1.868  |  DISEASES
7407  |  VARS  |  1.108  |  DISEASES
7421  |  VDR  |  1.326  |  DISEASES
7422  |  VEGFA  |  3.9  |  DISEASES
79001  |  VKORC1  |  1.091  |  DISEASES
51160  |  VPS28  |  2.202  |  DISEASES
51028  |  VPS36  |  2.235  |  DISEASES
7453  |  WARS  |  1.787  |  DISEASES
6375  |  XCL1  |  1.104  |  DISEASES
7520  |  XRCC5  |  1.613  |  DISEASES
91746  |  YTHDC1  |  1.818  |  DISEASES
Locus(Waiting for update.)
Disease ID 108
Disease kaposi sarcoma
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:29)
HP:0012733  |  Macule
HP:0200035  |  Skin plaque
HP:0012378  |  Fatigue
HP:0001824  |  Weight loss
HP:0001004  |  Lymphedema
HP:0008069  |  Neoplasm of the skin
HP:0001034  |  Hyperpigmented spots
HP:0005353  |  Susceptibility to herpesvirus
HP:0000479  |  Abnormality of the retina
HP:0005523  |  Lymphoproliferative disorder
HP:0002014  |  Diarrhea
HP:0011793  |  Neoplasm by anatomical site
HP:0008940  |  Generalized lymphadenopathy
HP:0001028  |  Hemangioma
HP:0002664  |  Neoplasia
HP:0002088  |  Abnormality of lung morphology
HP:0002814  |  Abnormality of the lower limb
HP:0005293  |  Venous insufficiency
HP:0001392  |  Abnormality of the liver
HP:0001945  |  Fever
HP:0000969  |  Dropsy
HP:0000988  |  Skin rash
HP:0001298  |  Encephalopathy
HP:0002721  |  Immunodeficiency
HP:0001034  |  Hypermelanotic macule
HP:0200036  |  Skin nodule
HP:0011024  |  Abnormality of the gastrointestinal tract
HP:0200034  |  Papule
HP:0001743  |  Abnormality of the spleen
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:52)
HP:0002665  |  Lymphoma  |  7
HP:0002664  |  Neoplasia  |  7
HP:0100242  |  Sarcoma  |  7
HP:0002721  |  Immunodeficiency  |  4
HP:0100726  |  Kaposi's sarcoma  |  4
HP:0012189  |  Hodgkin disease  |  3
HP:0012539  |  Non-Hodgkin lymphoma  |  3
HP:0002840  |  Lymphadenitis  |  2
HP:0200034  |  Papule  |  2
HP:0012578  |  Membranous glomerulonephritis  |  2
HP:0002202  |  Pleural effusion  |  2
HP:0005523  |  Lymphoproliferative disorder  |  2
HP:0002835  |  Aspiration  |  1
HP:0012490  |  Inflammation of fat tissue  |  1
HP:0002583  |  Colitis  |  1
HP:0001369  |  Arthritis  |  1
HP:0002488  |  Acute leukemias  |  1
HP:0100843  |  Glioblastoma  |  1
HP:0012034  |  Liposarcoma  |  1
HP:0001909  |  Leukemia  |  1
HP:0002013  |  Emesis  |  1
HP:0002584  |  Intestinal hemorrhage  |  1
HP:0001271  |  Polyneuropathy  |  1
HP:0003765  |  Psoriasis  |  1
HP:0100742  |  Vascular neoplasm  |  1
HP:0002239  |  Gastrointestinal hemorrhage  |  1
HP:0001541  |  Ascites  |  1
HP:0002242  |  Enteropathy  |  1
HP:0000083  |  Renal insufficiency  |  1
HP:0002860  |  Squamous cell carcinoma  |  1
HP:0000969  |  Dropsy  |  1
HP:0006775  |  Multiple myeloma  |  1
HP:0004315  |  IgG deficiency  |  1
HP:0001251  |  Ataxia  |  1
HP:0002716  |  Lymph node hyperplasia  |  1
HP:0001045  |  Blotchy loss of skin color  |  1
HP:0012191  |  B-cell lymphoma  |  1
HP:0012203  |  Onychomycosis  |  1
HP:0001945  |  Fever  |  1
HP:0100279  |  Ulcerative colitis  |  1
HP:0001370  |  Rheumatoid arthritis  |  1
HP:0009725  |  Bladder neoplasm  |  1
HP:0003473  |  Fatigable weakness  |  1
HP:0003774  |  End-stage renal failure  |  1
HP:0002243  |  Protein-losing enteropathy  |  1
HP:0001047  |  Atopic dermatitis  |  1
HP:0000099  |  Glomerular nephritis  |  1
HP:0003003  |  Colon cancer  |  1
HP:0001004  |  Lymphatic obstruction  |  1
HP:0002955  |  Granulomatosis  |  1
HP:0009733  |  Glioma  |  1
HP:0030731  |  Carcinoma  |  1
Disease ID 108
Disease kaposi sarcoma
Manually Symptom
UMLS  | Name(Total Manually Symptoms:13)
C1619738  |  immune reconstitution inflammatory syndrome
C0748159  |  pulmonary involvement
C0333243  |  pitting edema
C0221383  |  phlegmonous gastritis
C0079731  |  b-cell non-hodgkin's lymphoma
C0037284  |  skin lesion
C0026764  |  multiple myeloma
C0021832  |  intestinal parasites
C0020758  |  ichthyosis
C0020437  |  hypercalcemia
C0017575  |  necrotizing gingivitis
C0005398  |  extrahepatic cholestasis
C0004623  |  bacterial infections
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:12)
C0009450  |  infection  |  16
C0019693  |  hiv infection  |  3
C0024299  |  lymphomas  |  2
C0024305  |  non-hodgkin lymphoma  |  2
C1619738  |  immune reconstitution inflammatory syndrome  |  2
C0001175  |  acquired immunodeficiency syndrome  |  2
C0748159  |  pulmonary involvement  |  1
C0037284  |  skin lesions  |  1
C0079731  |  b-cell lymphoma  |  1
C0030805  |  bullous pemphigoid  |  1
C0017531  |  castleman's disease  |  1
C1334815  |  multicentric castleman's disease  |  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
rs1800795151546663569IL6umls:C0036220GAD[In addition to the HHV-8 infection, the interleukin-6 promoter polymorphism G-174C is associated with a risk of development of KS in renal transplant recipients.]0.1301728332004IL6;LOC541472722727026CG
rs2008953702452209984634KISS1Rumls:C0036220BeFreeTwo rare heterozygous variants (c.442C>T (p.Arg148Trp) and c.1421G>A (p.Arg474Gln)) in SEMA7A were found in one male nHH patient with a previously identified KISS1R nonsense variant and one male KS patient with a previously identified mutation in KAL1, respectively.0.0002714422013SEMA7A1574417900GA
rs200895370245220993730KAL1umls:C0036220BeFreeTwo rare heterozygous variants (c.442C>T (p.Arg148Trp) and c.1421G>A (p.Arg474Gln)) in SEMA7A were found in one male nHH patient with a previously identified KISS1R nonsense variant and one male KS patient with a previously identified mutation in KAL1, respectively.0.0002714422013SEMA7A1574417900GA
rs200895370245220998482SEMA7Aumls:C0036220BeFreeTwo rare heterozygous variants (c.442C>T (p.Arg148Trp) and c.1421G>A (p.Arg474Gln)) in SEMA7A were found in one male nHH patient with a previously identified KISS1R nonsense variant and one male KS patient with a previously identified mutation in KAL1, respectively.0.0002714422013SEMA7A1574417900GA
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:6)
HP ID HP Name MP ID MP Name Annotation
HP:0001743Abnormality of the spleenMP:0004485increased response of heart to induced stressincrease in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding
HP:0001392Abnormality of the liverMP:0020010decreased bone mineral density of femurreduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0008069Neoplasm of the skinMP:0011205excessive folding of visceral yolk sacthe appearance of wrinkles or folds on the surface of the visceral yolk sac
HP:0002814Abnormality of the lower limbMP:0004686decreased length of long bonesreduced end-to-end length of the several elongated bones of the extremities
HP:0005353Susceptibility to herpesvirusMP:0020001decreased response to antigendecreased or weak immune response after exposure to an antigen
HP:0001824Weight lossMP:0005114premature hair lossrelease of fur at an earlier than expected time
Mapped by homologous gene(Total Items:21)
HP ID HP Name MP ID MP Name Annotation
HP:0005293Venous insufficiencyMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0200034PapuleMP:0013745abnormal eyelid margin morphologyany structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium
HP:0001945FeverMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0001824Weight lossMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0008069Neoplasm of the skinMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0005353Susceptibility to herpesvirusMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0001028HemangiomaMP:0014171increased fatty acid oxidationincreased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr
HP:0002664NeoplasmMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0000969EdemaMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0002721ImmunodeficiencyMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0200036Skin noduleMP:0013601increased testis apoptosisincrease in the number of cells of the male reproductive glands undergoing programmed cell death
HP:0001743Abnormality of the spleenMP:0013696increased granulocyte monocyte progenitor cell numberincrease in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1
HP:0001392Abnormality of the liverMP:0020169increased thyroid gland weighthigher than average weight of the thyroid gland
HP:0001034Hypermelanotic maculeMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0005523Lymphoproliferative disorderMP:0013696increased granulocyte monocyte progenitor cell numberincrease in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1
HP:0002014DiarrheaMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0002814Abnormality of the lower limbMP:0013616decreased volumetric bone mineral densityreduction in the mineral mass per unit volume of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; this is expressed as the amount of mineral per cubic cm of bone (usual
HP:0001004LymphedemaMP:0014171increased fatty acid oxidationincreased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr
HP:0012378FatigueMP:0013659abnormal erythroid lineage cell morphologyany structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes
HP:0001298EncephalopathyMP:0020187altered susceptibility to prion infectionaltered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is
HP:0000988Skin rashMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
Disease ID 108
Disease kaposi sarcoma
Case(Waiting for update.)