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Pediatric Disease Annotations & Medicines



   congenital hypoplastic anemia
  

Disease ID 1600
Disease congenital hypoplastic anemia
Definition
An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes LEUKOPENIA and THROMBOCYTOPENIA.
Synonym
anemia hypoplastic congen
anemia, congenital hypoplastic
anemia, hypoplastic, congenital
anemia, hypoplastic, congenital [disease/finding]
anemias, congenital hypoplastic
congen hypoplastic anemia
congenital hypoplastic anaemia
congenital hypoplastic anemias
familial hypoplastic anaemia
familial hypoplastic anemia
hypoplastic anaemia - familial
hypoplastic anemia - familial
hypoplastic anemia congen
hypoplastic anemia, congenital
hypoplastic anemias, congenital
DOID
UMLS
C0949116
MeSH
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:38)
BRCA2  |  675  |  UniProtKB-KW;GHR
BRIP1  |  83990  |  UniProtKB-KW;GHR
TSR2  |  90121  |  UniProtKB-KW
RPS7  |  6201  |  UniProtKB-KW;GHR
FANCE  |  2178  |  UniProtKB-KW;GHR
FANCC  |  2176  |  UniProtKB-KW;GHR
RPL35A  |  6165  |  UniProtKB-KW;GHR
MAD2L2  |  10459  |  UniProtKB-KW
CAD  |  790  |  CTD_human
FANCG  |  2189  |  UniProtKB-KW;GHR
FANCD2  |  2177  |  UniProtKB-KW;GHR
UBE2T  |  29089  |  UniProtKB-KW
RAD51C  |  5889  |  UniProtKB-KW;GHR
RPL27  |  6155  |  UniProtKB-KW
RPS24  |  6229  |  UniProtKB-KW;GHR
RPS27  |  6232  |  UniProtKB-KW
PALB2  |  79728  |  UniProtKB-KW;GHR
FANCI  |  55215  |  UniProtKB-KW;GHR
RPS19  |  6223  |  UniProtKB-KW;GHR
UMPS  |  7372  |  CTD_human
ERCC4  |  2072  |  UniProtKB-KW
RPS10  |  6204  |  UniProtKB-KW;GHR
SLX4  |  84464  |  UniProtKB-KW;GHR
RAD51  |  5888  |  UniProtKB-KW
RPS26  |  6231  |  UniProtKB-KW;GHR
RPS29  |  6235  |  UniProtKB-KW
RPS28  |  6234  |  UniProtKB-KW
RPL5  |  6125  |  UniProtKB-KW;GHR
XRCC2  |  7516  |  UniProtKB-KW
RPL15  |  6138  |  UniProtKB-KW
RPL11  |  6135  |  UniProtKB-KW;GHR
RPS17  |  6218  |  UniProtKB-KW;GHR
FANCL  |  55120  |  UniProtKB-KW;GHR
FANCM  |  57697  |  GHR
FANCB  |  2187  |  UniProtKB-KW;GHR
FANCA  |  2175  |  UniProtKB-KW;GHR
FANCF  |  2188  |  UniProtKB-KW;GHR
RPL26  |  6154  |  UniProtKB-KW
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:325)
2067  |  ERCC1  |  DISEASES
259282  |  BOD1L1  |  DISEASES
51009  |  DERL2  |  DISEASES
6128  |  RPL6  |  DISEASES
7066  |  THPO  |  DISEASES
2802  |  GOLGA3  |  DISEASES
25807  |  RHBDD3  |  DISEASES
8237  |  USP11  |  DISEASES
10916  |  MAGED2  |  DISEASES
268  |  AMH  |  DISEASES
5691  |  PSMB3  |  DISEASES
6143  |  RPL19  |  DISEASES
1440  |  CSF3  |  DISEASES
218  |  ALDH3A1  |  DISEASES
4254  |  KITLG  |  DISEASES
10635  |  RAD51AP1  |  DISEASES
3458  |  IFNG  |  DISEASES
2178  |  FANCE  |  DISEASES
7265  |  TTC1  |  DISEASES
4292  |  MLH1  |  DISEASES
4436  |  MSH2  |  DISEASES
2956  |  MSH6  |  DISEASES
10459  |  MAD2L2  |  DISEASES
10965  |  ACOT2  |  DISEASES
84272  |  YIPF4  |  DISEASES
92  |  ACVR2A  |  DISEASES
2322  |  FLT3  |  DISEASES
9111  |  NMI  |  DISEASES
1026  |  CDKN1A  |  DISEASES
3659  |  IRF1  |  DISEASES
51119  |  SBDS  |  DISEASES
8554  |  PIAS1  |  DISEASES
43849  |  KLK12  |  DISEASES
6192  |  RPS4Y1  |  DISEASES
548593  |  SLX1A  |  DISEASES
6217  |  RPS16  |  DISEASES
25873  |  RPL36  |  DISEASES
2056  |  EPO  |  DISEASES
6155  |  RPL27  |  DISEASES
56154  |  TEX15  |  DISEASES
3656  |  IRAK2  |  DISEASES
51455  |  REV1  |  DISEASES
3364  |  HUS1  |  DISEASES
83990  |  BRIP1  |  DISEASES
11224  |  RPL35  |  DISEASES
255488  |  RNF144B  |  DISEASES
51187  |  RSL24D1  |  DISEASES
11073  |  TOPBP1  |  DISEASES
5700  |  PSMC1  |  DISEASES
79728  |  PALB2  |  DISEASES
217  |  ALDH2  |  DISEASES
9894  |  TELO2  |  DISEASES
6132  |  RPL8  |  DISEASES
27033  |  ZBTB32  |  DISEASES
3783  |  KCNN4  |  DISEASES
5050  |  PAFAH1B3  |  DISEASES
4924  |  NUCB1  |  DISEASES
55247  |  NEIL3  |  DISEASES
56852  |  RAD18  |  DISEASES
1161  |  ERCC8  |  DISEASES
4437  |  MSH3  |  DISEASES
5423  |  POLB  |  DISEASES
4683  |  NBN  |  DISEASES
5395  |  PMS2  |  DISEASES
26277  |  TINF2  |  DISEASES
57697  |  FANCM  |  DISEASES
80119  |  PIF1  |  DISEASES
7157  |  TP53  |  DISEASES
10637  |  LEFTY1  |  DISEASES
6233  |  RPS27A  |  DISEASES
6167  |  RPL37  |  DISEASES
10769  |  PLK2  |  DISEASES
55651  |  NHP2  |  DISEASES
64434  |  NOM1  |  DISEASES
7013  |  TERF1  |  DISEASES
472  |  ATM  |  DISEASES
284312  |  ZSCAN1  |  DISEASES
219333  |  USP12  |  DISEASES
678  |  ZFP36L2  |  DISEASES
55781  |  RIOK2  |  DISEASES
5205  |  ATP8B1  |  DISEASES
2071  |  ERCC3  |  DISEASES
6156  |  RPL30  |  DISEASES
2177  |  FANCD2  |  DISEASES
3815  |  KIT  |  DISEASES
375748  |  ERCC6L2  |  DISEASES
2176  |  FANCC  |  DISEASES
1487  |  CTBP1  |  DISEASES
6154  |  RPL26  |  DISEASES
84464  |  SLX4  |  DISEASES
6159  |  RPL29  |  DISEASES
83932  |  SPRTN  |  DISEASES
113510  |  HELQ  |  DISEASES
8820  |  HESX1  |  DISEASES
327  |  APEH  |  DISEASES
56979  |  PRDM9  |  DISEASES
3562  |  IL3  |  DISEASES
1437  |  CSF2  |  DISEASES
4869  |  NPM1  |  DISEASES
5885  |  RAD21  |  DISEASES
7486  |  WRN  |  DISEASES
3251  |  HPRT1  |  DISEASES
55832  |  CAND1  |  DISEASES
7184  |  HSP90B1  |  DISEASES
5347  |  PLK1  |  DISEASES
861  |  RUNX1  |  DISEASES
10036  |  CHAF1A  |  DISEASES
55720  |  TSR1  |  DISEASES
332  |  BIRC5  |  DISEASES
699  |  BUB1  |  DISEASES
23440  |  OTP  |  DISEASES
8233  |  ZRSR2  |  DISEASES
23244  |  PDS5A  |  DISEASES
53343  |  NUDT9  |  DISEASES
7314  |  UBB  |  DISEASES
2237  |  FEN1  |  DISEASES
57599  |  WDR48  |  DISEASES
79893  |  GGNBP2  |  DISEASES
80198  |  MUS81  |  DISEASES
10238  |  DCAF7  |  DISEASES
6138  |  RPL15  |  DISEASES
7015  |  TERT  |  DISEASES
6169  |  RPL38  |  DISEASES
947  |  CD34  |  DISEASES
116028  |  RMI2  |  DISEASES
2072  |  ERCC4  |  DISEASES
55215  |  FANCI  |  DISEASES
6208  |  RPS14  |  DISEASES
836  |  CASP3  |  DISEASES
29990  |  PILRB  |  DISEASES
5883  |  RAD9A  |  DISEASES
6124  |  RPL4  |  DISEASES
9156  |  EXO1  |  DISEASES
91607  |  SLFN11  |  DISEASES
4281  |  MID1  |  DISEASES
63967  |  CLSPN  |  DISEASES
55218  |  EXD2  |  DISEASES
79915  |  ATAD5  |  DISEASES
5591  |  PRKDC  |  DISEASES
10009  |  ZBTB33  |  DISEASES
254394  |  MCM9  |  DISEASES
6047  |  RNF4  |  DISEASES
8208  |  CHAF1B  |  DISEASES
55109  |  AGGF1  |  DISEASES
7334  |  UBE2N  |  DISEASES
8239  |  USP9X  |  DISEASES
80010  |  RMI1  |  DISEASES
9400  |  RECQL5  |  DISEASES
65123  |  INTS3  |  DISEASES
6210  |  RPS15A  |  DISEASES
165918  |  RNF168  |  DISEASES
7156  |  TOP3A  |  DISEASES
6181  |  RPLP2  |  DISEASES
7284  |  TUFM  |  DISEASES
5932  |  RBBP8  |  DISEASES
84126  |  ATRIP  |  DISEASES
7329  |  UBE2I  |  DISEASES
2187  |  FANCB  |  DISEASES
49855  |  SCAPER  |  DISEASES
29933  |  GPR132  |  DISEASES
79008  |  SLX1B  |  DISEASES
8303  |  SNN  |  DISEASES
3543  |  IGLL1  |  DISEASES
2188  |  FANCF  |  DISEASES
10933  |  MORF4L1  |  DISEASES
10196  |  PRMT3  |  DISEASES
55505  |  NOP10  |  DISEASES
9939  |  RBM8A  |  DISEASES
91582  |  RPS19BP1  |  DISEASES
3043  |  HBB  |  DISEASES
199720  |  GGN  |  DISEASES
3320  |  HSP90AA1  |  DISEASES
25788  |  RAD54B  |  DISEASES
5889  |  RAD51C  |  DISEASES
140823  |  ROMO1  |  DISEASES
8558  |  CDK10  |  DISEASES
6201  |  RPS7  |  DISEASES
6129  |  RPL7  |  DISEASES
10524  |  KAT5  |  DISEASES
51513  |  ETV7  |  DISEASES
6187  |  RPS2  |  DISEASES
7518  |  XRCC4  |  DISEASES
6731  |  SRP72  |  DISEASES
7517  |  XRCC3  |  DISEASES
7398  |  USP1  |  DISEASES
545  |  ATR  |  DISEASES
9045  |  RPL14  |  DISEASES
2624  |  GATA2  |  DISEASES
6227  |  RPS21  |  DISEASES
6122  |  RPL3  |  DISEASES
6166  |  RPL36AL  |  DISEASES
6157  |  RPL27A  |  DISEASES
6133  |  RPL9  |  DISEASES
6144  |  RPL21  |  DISEASES
6176  |  RPLP1  |  DISEASES
6218  |  RPS17  |  DISEASES
79711  |  IPO4  |  DISEASES
79661  |  NEIL1  |  DISEASES
641  |  BLM  |  DISEASES
6204  |  RPS10  |  DISEASES
55107  |  ANO1  |  DISEASES
5926  |  ARID4A  |  DISEASES
6231  |  RPS26  |  DISEASES
6711  |  SPTBN1  |  DISEASES
2803  |  GOLGA4  |  DISEASES
79840  |  NHEJ1  |  DISEASES
3981  |  LIG4  |  DISEASES
23133  |  PHF8  |  DISEASES
6597  |  SMARCA4  |  DISEASES
55010  |  PARPBP  |  DISEASES
5893  |  RAD52  |  DISEASES
5980  |  REV3L  |  DISEASES
2547  |  XRCC6  |  DISEASES
7516  |  XRCC2  |  DISEASES
29086  |  BABAM1  |  DISEASES
2993  |  GYPA  |  DISEASES
55159  |  RFWD3  |  DISEASES
6772  |  STAT1  |  DISEASES
22909  |  FAN1  |  DISEASES
7150  |  TOP1  |  DISEASES
6136  |  RPL12  |  DISEASES
9937  |  DCLRE1A  |  DISEASES
6170  |  RPL39  |  DISEASES
10638  |  SPHAR  |  DISEASES
142  |  PARP1  |  DISEASES
28982  |  FLVCR1  |  DISEASES
25896  |  INTS7  |  DISEASES
9261  |  MAPKAPK2  |  DISEASES
29089  |  UBE2T  |  DISEASES
6232  |  RPS27  |  DISEASES
79184  |  BRCC3  |  DISEASES
1736  |  DKC1  |  DISEASES
64858  |  DCLRE1B  |  DISEASES
7272  |  TTK  |  DISEASES
51750  |  RTEL1  |  DISEASES
6125  |  RPL5  |  DISEASES
5688  |  PSMA7  |  DISEASES
8438  |  RAD54L  |  DISEASES
6130  |  RPL7A  |  DISEASES
5429  |  POLH  |  DISEASES
4352  |  MPL  |  DISEASES
6709  |  SPTAN1  |  DISEASES
100  |  ADA  |  DISEASES
546  |  ATRX  |  DISEASES
9025  |  RNF8  |  DISEASES
6191  |  RPS4X  |  DISEASES
4736  |  RPL10A  |  DISEASES
6118  |  RPA2  |  DISEASES
449520  |  GGNBP1  |  DISEASES
6135  |  RPL11  |  DISEASES
7507  |  XPA  |  DISEASES
90121  |  TSR2  |  DISEASES
3014  |  H2AFX  |  DISEASES
9656  |  MDC1  |  DISEASES
2623  |  GATA1  |  DISEASES
22803  |  XRN2  |  DISEASES
51720  |  UIMC1  |  DISEASES
27131  |  SNX5  |  DISEASES
51567  |  TDP2  |  DISEASES
64421  |  DCLRE1C  |  DISEASES
54880  |  BCOR  |  DISEASES
2189  |  FANCG  |  DISEASES
84515  |  MCM8  |  DISEASES
84893  |  FBXO18  |  DISEASES
54790  |  TET2  |  DISEASES
675  |  BRCA2  |  DISEASES
6194  |  RPS6  |  DISEASES
84142  |  FAM175A  |  DISEASES
5884  |  RAD17  |  DISEASES
7158  |  TP53BP1  |  DISEASES
11200  |  CHEK2  |  DISEASES
5888  |  RAD51  |  DISEASES
353497  |  POLN  |  DISEASES
2175  |  FANCA  |  DISEASES
2068  |  ERCC2  |  DISEASES
55240  |  STEAP3  |  DISEASES
146956  |  EME1  |  DISEASES
130  |  ADH6  |  DISEASES
4145  |  MATK  |  DISEASES
6235  |  RPS29  |  DISEASES
6161  |  RPL32  |  DISEASES
5119  |  CHMP1A  |  DISEASES
1763  |  DNA2  |  DISEASES
1663  |  DDX11  |  DISEASES
55120  |  FANCL  |  DISEASES
10213  |  PSMD14  |  DISEASES
6160  |  RPL31  |  DISEASES
7311  |  UBA52  |  DISEASES
1111  |  CHEK1  |  DISEASES
6147  |  RPL23A  |  DISEASES
23109  |  DDN  |  DISEASES
6165  |  RPL35A  |  DISEASES
5965  |  RECQL  |  DISEASES
3430  |  IFI35  |  DISEASES
1719  |  DHFR  |  DISEASES
55284  |  UBE2W  |  DISEASES
64864  |  RFX7  |  DISEASES
7124  |  TNF  |  DISEASES
51755  |  CDK12  |  DISEASES
26054  |  SENP6  |  DISEASES
8315  |  BRAP  |  DISEASES
6173  |  RPL36A  |  DISEASES
91833  |  WDR20  |  DISEASES
55898  |  UNC45A  |  DISEASES
7812  |  CSDE1  |  DISEASES
64854  |  USP46  |  DISEASES
5985  |  RFC5  |  DISEASES
54993  |  ZSCAN2  |  DISEASES
7153  |  TOP2A  |  DISEASES
6229  |  RPS24  |  DISEASES
5682  |  PSMA1  |  DISEASES
92822  |  ZNF276  |  DISEASES
51686  |  OAZ3  |  DISEASES
672  |  BRCA1  |  DISEASES
6171  |  RPL41  |  DISEASES
51312  |  SLC25A37  |  DISEASES
6224  |  RPS20  |  DISEASES
56943  |  ENY2  |  DISEASES
6188  |  RPS3  |  DISEASES
6230  |  RPS25  |  DISEASES
5892  |  RAD51D  |  DISEASES
6209  |  RPS15  |  DISEASES
6223  |  RPS19  |  DISEASES
6234  |  RPS28  |  DISEASES
7012  |  TERC  |  DISEASES
Locus(Waiting for update.)
Disease ID 1600
Disease congenital hypoplastic anemia
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype(Waiting for update.)
Disease ID 1600
Disease congenital hypoplastic anemia
Manually Symptom
UMLS  | Name(Total Manually Symptoms:3)
C0029166  |  oral manifestations
C0024282  |  lymphocytosis
C0002893  |  refractory anemia
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
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All Snps(Total Genotypes:0)
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GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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