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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   granulocytopenia
  

Disease ID 1123
Disease granulocytopenia
Definition
A decrease in the number of GRANULOCYTES; (BASOPHILS; EOSINOPHILS; and NEUTROPHILS).
Synonym
agranulocytoses
agranulocytosis
agranulocytosis (disorder)
agranulocytosis (finding)
agranulocytosis [disease/finding]
agranulocytosis nos
agranulocytosis nos (disorder)
granulocytopenia (disorder)
granulocytopenias
granulocytopenic disorder
granulocytopenic disorder (disorder)
granulopenia
schultz disease
DOID
UMLS
C0001824
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:29)
C0027947  |  neutropenia  |  3
C0040034  |  thrombocytopenia  |  3
C0020550  |  hyperthyroidism  |  2
C0027873  |  neuromyelitis optica  |  1
C0272286  |  immune thrombocytopenia  |  1
C0027726  |  nephrotic syndrome  |  1
C0017920  |  glucose-6-phosphate dehydrogenase deficiency  |  1
C0023434  |  chronic lymphocytic leukemia  |  1
C0022658  |  renal disease  |  1
C0019100  |  dengue hemorrhagic fever  |  1
C0023448  |  lymphocytic leukemia  |  1
C0152966  |  pneumococcal sepsis  |  1
C0030312  |  pancytopenia  |  1
C0024623  |  stomach cancer  |  1
C0238198  |  gastrointestinal stromal tumor  |  1
C0238198  |  gastrointestinal stromal tumors  |  1
C0026769  |  multiple sclerosis  |  1
C0018213  |  graves' disease  |  1
C0022661  |  end-stage renal disease  |  1
C0242584  |  autoimmune thrombocytopenia  |  1
C0040156  |  thyrotoxicosis  |  1
C0879615  |  stromal tumor  |  1
C0032285  |  pneumonia  |  1
C0023418  |  leukemia  |  1
C0019158  |  hepatitis  |  1
C0024312  |  lymphopenia  |  1
C0023530  |  leukopenia  |  1
C0026986  |  myelodysplastic syndrome  |  1
C1368107  |  bone marrow aplasia  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:8)
1440  |  CSF3  |  CTD_human
7454  |  WAS  |  GHR
1437  |  CSF2  |  CTD_human
10456  |  HAX1  |  GHR
2672  |  GFI1  |  GHR
1991  |  ELANE  |  GHR
4835  |  NQO2  |  CTD_human
92579  |  G6PC3  |  GHR
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:10)
1535  |  CYBA  |  CIPHER
1565  |  CYP2D6  |  CIPHER
3105  |  HLA-A  |  CIPHER
3106  |  HLA-B  |  CIPHER
3123  |  HLA-DRB1  |  CIPHER
4353  |  MPO  |  CIPHER
4835  |  NQO2  |  CIPHER;CTD_human
54658  |  UGT1A1  |  CIPHER
1437  |  CSF2  |  CTD_human
1440  |  CSF3  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:249)
4363  |  ABCC1  |  2.375  |  DISEASES
1244  |  ABCC2  |  3.379  |  DISEASES
10257  |  ABCC4  |  2.105  |  DISEASES
10057  |  ABCC5  |  1.454  |  DISEASES
25  |  ABL1  |  1.4  |  DISEASES
65057  |  ACD  |  1.951  |  DISEASES
204  |  AK2  |  2.797  |  DISEASES
1645  |  AKR1C1  |  1.915  |  DISEASES
238  |  ALK  |  2.236  |  DISEASES
257  |  ALX3  |  2.519  |  DISEASES
23294  |  ANKS1A  |  1.534  |  DISEASES
316  |  AOX1  |  1.892  |  DISEASES
84071  |  ARMC2  |  1.443  |  DISEASES
171023  |  ASXL1  |  1.248  |  DISEASES
9212  |  AURKB  |  2.917  |  DISEASES
158835  |  AWAT2  |  1.002  |  DISEASES
567  |  B2M  |  2.91  |  DISEASES
2683  |  B4GALT1  |  2.301  |  DISEASES
631  |  BFSP1  |  1.357  |  DISEASES
641  |  BLM  |  1.133  |  DISEASES
672  |  BRCA1  |  1.467  |  DISEASES
685  |  BTC  |  2.035  |  DISEASES
28970  |  C11orf54  |  1.724  |  DISEASES
720  |  C4A  |  1.075  |  DISEASES
728  |  C5AR1  |  1.194  |  DISEASES
65250  |  C5orf42  |  3.759  |  DISEASES
116328  |  C8orf34  |  2.176  |  DISEASES
285782  |  CAGE1  |  2.194  |  DISEASES
799  |  CALCR  |  1.106  |  DISEASES
820  |  CAMP  |  1.784  |  DISEASES
64170  |  CARD9  |  2.22  |  DISEASES
57126  |  CD177  |  4.6  |  DISEASES
653579  |  CD177P1  |  2.603  |  DISEASES
930  |  CD19  |  2.901  |  DISEASES
914  |  CD2  |  2.752  |  DISEASES
951  |  CD37  |  1.201  |  DISEASES
958  |  CD40  |  1.607  |  DISEASES
959  |  CD40LG  |  4.056  |  DISEASES
921  |  CD5  |  2.496  |  DISEASES
1043  |  CD52  |  3.023  |  DISEASES
966  |  CD59  |  1.369  |  DISEASES
923  |  CD6  |  1.007  |  DISEASES
978  |  CDA  |  2.424  |  DISEASES
1025  |  CDK9  |  1.923  |  DISEASES
1029  |  CDKN2A  |  1.189  |  DISEASES
1050  |  CEBPA  |  2.294  |  DISEASES
3075  |  CFH  |  1.785  |  DISEASES
1111  |  CHEK1  |  2.107  |  DISEASES
1192  |  CLIC1  |  3.289  |  DISEASES
51287  |  COA4  |  2.155  |  DISEASES
80781  |  COL18A1  |  1.326  |  DISEASES
1369  |  CPN1  |  1.262  |  DISEASES
1378  |  CR1  |  2.351  |  DISEASES
1380  |  CR2  |  2.088  |  DISEASES
1435  |  CSF1  |  2.82  |  DISEASES
1438  |  CSF2RA  |  1.601  |  DISEASES
1441  |  CSF3R  |  5.683  |  DISEASES
728090  |  CT47A2  |  1.153  |  DISEASES
11330  |  CTRC  |  1.451  |  DISEASES
6387  |  CXCL12  |  2.086  |  DISEASES
7852  |  CXCR4  |  2.74  |  DISEASES
1544  |  CYP1A2  |  1.952  |  DISEASES
1557  |  CYP2C19  |  2.103  |  DISEASES
1558  |  CYP2C8  |  2.486  |  DISEASES
1565  |  CYP2D6  |  1.206  |  DISEASES
1576  |  CYP3A4  |  3.954  |  DISEASES
199699  |  DAND5  |  1.811  |  DISEASES
8816  |  DCAF5  |  1.494  |  DISEASES
1635  |  DCTD  |  2.297  |  DISEASES
1719  |  DHFR  |  1.855  |  DISEASES
28514  |  DLL1  |  3.98  |  DISEASES
3301  |  DNAJA1  |  2.448  |  DISEASES
1785  |  DNM2  |  1.113  |  DISEASES
1806  |  DPYD  |  3.798  |  DISEASES
1825  |  DSC3  |  1.335  |  DISEASES
5169  |  ENPP3  |  1.37  |  DISEASES
57634  |  EP400  |  1.356  |  DISEASES
2068  |  ERCC2  |  1.367  |  DISEASES
51466  |  EVL  |  1.208  |  DISEASES
2152  |  F3  |  2.002  |  DISEASES
54942  |  FAM206A  |  1.092  |  DISEASES
55120  |  FANCL  |  1.454  |  DISEASES
356  |  FASLG  |  1.983  |  DISEASES
2209  |  FCGR1A  |  2.343  |  DISEASES
2213  |  FCGR2B  |  1.502  |  DISEASES
2214  |  FCGR3A  |  4.252  |  DISEASES
2219  |  FCN1  |  1.195  |  DISEASES
2323  |  FLT3LG  |  1.25  |  DISEASES
2329  |  FMO4  |  1.114  |  DISEASES
2526  |  FUT4  |  2.671  |  DISEASES
53827  |  FXYD5  |  2.129  |  DISEASES
2624  |  GATA2  |  1.678  |  DISEASES
2628  |  GATM  |  2.532  |  DISEASES
8328  |  GFI1B  |  2.889  |  DISEASES
728441  |  GGT2  |  1.168  |  DISEASES
2804  |  GOLGB1  |  2.59  |  DISEASES
2805  |  GOT1  |  1.098  |  DISEASES
2885  |  GRB2  |  2.13  |  DISEASES
2950  |  GSTP1  |  2.443  |  DISEASES
2994  |  GYPB  |  2.168  |  DISEASES
3035  |  HARS  |  1.121  |  DISEASES
10456  |  HAX1  |  5.456  |  DISEASES
3043  |  HBB  |  2.404  |  DISEASES
3055  |  HCK  |  2.322  |  DISEASES
284004  |  HEXDC  |  1.979  |  DISEASES
3120  |  HLA-DQB2  |  1.05  |  DISEASES
51155  |  HN1  |  4.351  |  DISEASES
3240  |  HP  |  1.408  |  DISEASES
3274  |  HRH2  |  1.923  |  DISEASES
3356  |  HTR2A  |  1.004  |  DISEASES
3359  |  HTR3A  |  2.755  |  DISEASES
3363  |  HTR7  |  1.195  |  DISEASES
3451  |  IFNA17  |  1.515  |  DISEASES
3440  |  IFNA2  |  3.801  |  DISEASES
3456  |  IFNB1  |  1.493  |  DISEASES
3486  |  IGFBP3  |  1.195  |  DISEASES
3586  |  IL10  |  1.833  |  DISEASES
3605  |  IL17A  |  1.514  |  DISEASES
3614  |  IMPDH1  |  1.445  |  DISEASES
3615  |  IMPDH2  |  1.623  |  DISEASES
54556  |  ING3  |  2.927  |  DISEASES
3683  |  ITGAL  |  2.983  |  DISEASES
3684  |  ITGAM  |  4.058  |  DISEASES
3704  |  ITPA  |  2.534  |  DISEASES
3712  |  IVD  |  1.169  |  DISEASES
3716  |  JAK1  |  1.013  |  DISEASES
3717  |  JAK2  |  2.397  |  DISEASES
3725  |  JUN  |  1.134  |  DISEASES
9920  |  KBTBD11  |  3.156  |  DISEASES
3767  |  KCNJ11  |  2.085  |  DISEASES
55614  |  KIF16B  |  1.151  |  DISEASES
5650  |  KLK7  |  2.196  |  DISEASES
28956  |  LAMTOR2  |  2.581  |  DISEASES
25802  |  LMOD1  |  1.606  |  DISEASES
9361  |  LONP1  |  1.365  |  DISEASES
1130  |  LYST  |  1.773  |  DISEASES
5609  |  MAP2K7  |  1.391  |  DISEASES
23542  |  MAPK8IP2  |  3.872  |  DISEASES
10747  |  MASP2  |  1.981  |  DISEASES
4145  |  MATK  |  1.79  |  DISEASES
4153  |  MBL2  |  2.335  |  DISEASES
4170  |  MCL1  |  1.161  |  DISEASES
114614  |  MIR155HG  |  1.276  |  DISEASES
4311  |  MME  |  1.508  |  DISEASES
4352  |  MPL  |  2.553  |  DISEASES
4524  |  MTHFR  |  2.389  |  DISEASES
2475  |  MTOR  |  2.917  |  DISEASES
345778  |  MTX3  |  2.474  |  DISEASES
29116  |  MYLIP  |  1.771  |  DISEASES
10443  |  N4BP2L2  |  1.827  |  DISEASES
4685  |  NCAM2  |  1.211  |  DISEASES
4720  |  NDUFS2  |  1.91  |  DISEASES
84504  |  NKX6-2  |  3.716  |  DISEASES
4835  |  NQO2  |  2.27  |  DISEASES
131870  |  NUDT16  |  3.241  |  DISEASES
93377  |  OPALIN  |  1.245  |  DISEASES
142  |  PARP1  |  1.914  |  DISEASES
5091  |  PC  |  2.135  |  DISEASES
57060  |  PCBP4  |  1.358  |  DISEASES
23590  |  PDSS1  |  1.475  |  DISEASES
64065  |  PERP  |  1.442  |  DISEASES
5238  |  PGM3  |  1.008  |  DISEASES
5241  |  PGR  |  2.452  |  DISEASES
80012  |  PHC3  |  1.035  |  DISEASES
51230  |  PHF20  |  1.703  |  DISEASES
23612  |  PHLDA3  |  1.037  |  DISEASES
5586  |  PKN2  |  2.845  |  DISEASES
200150  |  PLD5  |  1.049  |  DISEASES
57088  |  PLSCR4  |  1.734  |  DISEASES
4860  |  PNP  |  1.333  |  DISEASES
9533  |  POLR1C  |  1.357  |  DISEASES
5447  |  POR  |  1.753  |  DISEASES
28227  |  PPP2R3B  |  2.123  |  DISEASES
5562  |  PRKAA1  |  1.03  |  DISEASES
5663  |  PSEN1  |  3.643  |  DISEASES
5688  |  PSMA7  |  1.584  |  DISEASES
56984  |  PSMG2  |  3.104  |  DISEASES
5728  |  PTEN  |  1.474  |  DISEASES
5743  |  PTGS2  |  1.625  |  DISEASES
5788  |  PTPRC  |  1.723  |  DISEASES
9230  |  RAB11B  |  1.301  |  DISEASES
5873  |  RAB27A  |  2.036  |  DISEASES
9939  |  RBM8A  |  1.533  |  DISEASES
51109  |  RDH11  |  1.387  |  DISEASES
5979  |  RET  |  2.055  |  DISEASES
56963  |  RGMA  |  2.34  |  DISEASES
83695  |  RHNO1  |  1.959  |  DISEASES
6016  |  RIT1  |  1.234  |  DISEASES
23322  |  RPGRIP1L  |  1.678  |  DISEASES
6223  |  RPS19  |  1.041  |  DISEASES
6230  |  RPS25  |  1.542  |  DISEASES
6401  |  SELE  |  1.029  |  DISEASES
9058  |  SLC13A2  |  3.547  |  DISEASES
284111  |  SLC13A5  |  3.553  |  DISEASES
91137  |  SLC25A46  |  1.461  |  DISEASES
64078  |  SLC28A3  |  1.682  |  DISEASES
2030  |  SLC29A1  |  2.196  |  DISEASES
10559  |  SLC35A1  |  1.395  |  DISEASES
347734  |  SLC35B2  |  1.406  |  DISEASES
83650  |  SLC35G5  |  2.407  |  DISEASES
54020  |  SLC37A1  |  1.64  |  DISEASES
84255  |  SLC37A3  |  1.437  |  DISEASES
57153  |  SLC44A2  |  1.695  |  DISEASES
338821  |  SLCO1B7  |  2.055  |  DISEASES
6603  |  SMARCD2  |  1.402  |  DISEASES
23583  |  SMUG1  |  2.059  |  DISEASES
10011  |  SRA1  |  1.422  |  DISEASES
6714  |  SRC  |  1.813  |  DISEASES
6772  |  STAT1  |  1.284  |  DISEASES
6776  |  STAT5A  |  2.316  |  DISEASES
6789  |  STK4  |  1.286  |  DISEASES
25870  |  SUMF2  |  1.632  |  DISEASES
6850  |  SYK  |  2.471  |  DISEASES
6863  |  TAC1  |  1.045  |  DISEASES
4070  |  TACSTD2  |  1.289  |  DISEASES
138474  |  TAF1L  |  1.702  |  DISEASES
54790  |  TET2  |  3.873  |  DISEASES
7018  |  TF  |  2.024  |  DISEASES
7037  |  TFRC  |  1.376  |  DISEASES
51337  |  THEM6  |  1.544  |  DISEASES
353376  |  TICAM2  |  1.329  |  DISEASES
1678  |  TIMM8A  |  2.119  |  DISEASES
7086  |  TKT  |  2.169  |  DISEASES
7099  |  TLR4  |  1.066  |  DISEASES
54106  |  TLR9  |  1.798  |  DISEASES
7124  |  TNF  |  3.615  |  DISEASES
7133  |  TNFRSF1B  |  1.896  |  DISEASES
10673  |  TNFSF13B  |  1.501  |  DISEASES
7150  |  TOP1  |  5.484  |  DISEASES
7153  |  TOP2A  |  1.274  |  DISEASES
7155  |  TOP2B  |  1.603  |  DISEASES
9760  |  TOX  |  1.243  |  DISEASES
127262  |  TPRG1L  |  2.617  |  DISEASES
51393  |  TRPV2  |  3.382  |  DISEASES
54970  |  TTC12  |  2.635  |  DISEASES
7272  |  TTK  |  1.607  |  DISEASES
55833  |  UBAP2  |  1.492  |  DISEASES
54577  |  UGT1A7  |  2.35  |  DISEASES
54600  |  UGT1A9  |  2.013  |  DISEASES
7422  |  VEGFA  |  3.251  |  DISEASES
27287  |  VENTX  |  1.242  |  DISEASES
157680  |  VPS13B  |  4.576  |  DISEASES
11311  |  VPS45  |  3.413  |  DISEASES
7454  |  WAS  |  3.429  |  DISEASES
23038  |  WDTC1  |  1.083  |  DISEASES
51741  |  WWOX  |  3.404  |  DISEASES
7517  |  XRCC3  |  2.249  |  DISEASES
340152  |  ZC3H12D  |  2.621  |  DISEASES
79670  |  ZCCHC6  |  1.011  |  DISEASES
Locus(Waiting for update.)
Disease ID 1123
Disease granulocytopenia
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:21)
HP:0001873  |  Low platelet count  |  3
HP:0001875  |  Neutropenia  |  3
HP:0001945  |  Fever  |  2
HP:0000836  |  Overactive thyroid  |  2
HP:0001909  |  Leukemia  |  1
HP:0001882  |  Decreased blood leukocyte number  |  1
HP:0000100  |  Nephrosis  |  1
HP:0009789  |  Perianal abscess  |  1
HP:0005550  |  Chronic lymphatic leukemia  |  1
HP:0012115  |  Liver inflammation  |  1
HP:0001888  |  Lymphocytopenia  |  1
HP:0003774  |  End-stage renal failure  |  1
HP:0100723  |  Gastrointestinal stroma tumor  |  1
HP:0001973  |  Autoimmune thrombocytopenia  |  1
HP:0002863  |  Myelodysplastic syndrome  |  1
HP:0012126  |  Gastric cancer  |  1
HP:0000988  |  Exanthem  |  1
HP:0001876  |  Low blood cell count  |  1
HP:0030150  |  Plasmacytosis  |  1
HP:0100806  |  Sepsis  |  1
HP:0100647  |  Morbus Basedow  |  1
Disease ID 1123
Disease granulocytopenia
Manually Symptom
UMLS  | Name(Total Manually Symptoms:22)
C2707258  |  infections
C2697391  |  rheumatoid arthritis
C2364133  |  infection
C1963091  |  diarrhea
C1384676  |  clostridium septicum infection
C1090821  |  sepsis
C0442886  |  secondary infection
C0424755  |  fever
C0079772  |  t cell lymphoma
C0043541  |  mucormycosis
C0036690  |  septicemia
C0032285  |  pneumonia
C0026946  |  fungal infection
C0024282  |  lymphocytosis
C0020550  |  hyperthyroidism
C0019158  |  hepatitis
C0018939  |  hematologic diseases
C0016397  |  focal infection
C0009450  |  infectious diseases
C0004623  |  bacterial infections
C0004610  |  bacteremia
C0004030  |  aspergillosis
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:6)
C0009450  |  infection  |  3
C0020550  |  hyperthyroidism  |  2
C0036690  |  sepsis  |  1
C0015967  |  fever  |  1
C0029166  |  oral manifestation  |  1
C0021311  |  infections  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
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.)
Disease ID 1123
Disease granulocytopenia
Case(Waiting for update.)