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	congenital hemolytic anemia

Disease ID	1010
Disease	congenital hemolytic anemia
Definition	Hemolytic anemia due to various intrinsic defects of the erythrocyte.
Synonym	anaemia -heredit.haemol anaemias haemolytics hereditary anemia -heredit.hemol anemia hemolytic congen anemia, congenital hemolytic anemia, hemolytic, congenital anemia, hemolytic, congenital [disease/finding] anemia, hemolytic, hereditary anemia, hereditary hemolytic anemias, congenital hemolytic anemias, hereditary hemolytic congen hemolytic anemia congenital haemolytic anaemia congenital haemolytic anemia congenital hemolytic anemia (disorder) congenital hemolytic anemia, nos congenital hemolytic anemias hemolytic anemia congen hemolytic anemia, congenital hemolytic anemia, hereditary hemolytic anemias, congenital hemolytic anemias, hereditary hered hemolytic anem nos hereditary haemol.anaem hereditary haemolytic anaemia hereditary haemolytic anaemia nos hereditary haemolytic anaemias hereditary hemol.anaem hereditary hemolytic anemia hereditary hemolytic anemia (disorder) hereditary hemolytic anemia nos hereditary hemolytic anemia nos (disorder) hereditary hemolytic anemia, nos hereditary hemolytic anemia, unspecified hereditary hemolytic anemias other hered. haem. anaemias other hered. hem. anemias
DOID	DOID:589
ICD10	ICD10CM:D58.9
UMLS	C0002881
MeSH	D000745
SNOMED-CT	SNOMEDCT_US_2016_09_01:42601008;SNOMEDCT_US_2016_09_01:38911009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0002871 \| anaemia \| 1 C0398623 \| hypercoagulability \| 1 C0340968 \| pyruvate kinase deficiency \| 1 C0019045 \| haemoglobinopathies \| 1 C0039730 \| thalassemia \| 1 C0029106 \| opisthorchiasis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:33) 6521 \| SLC4A1 \| UniProtKB-KW;GHR 6708 \| SPTA1 \| UniProtKB-KW;GHR 5230 \| PGK1 \| UniProtKB-KW 9949 \| AMMECR1 \| UniProtKB-KW 203 \| AK1 \| UniProtKB-KW 669 \| BPGM \| UniProtKB-KW 6005 \| RHAG \| UniProtKB-KW 3039 \| HBA1 \| UniProtKB-KW 3040 \| HBA2 \| UniProtKB-KW 10483 \| SEC23B \| UniProtKB-KW;GHR 100 \| ADA \| UniProtKB-KW 2182 \| ACSL4 \| UniProtKB-KW 5313 \| PKLR \| UniProtKB-KW 3043 \| HBB \| UniProtKB-KW 6513 \| SLC2A1 \| UniProtKB-KW 6710 \| SPTB \| UniProtKB-KW;GHR 226 \| ALDOA \| UniProtKB-KW 2937 \| GSS \| UniProtKB-KW 10661 \| KLF1 \| UniProtKB-KW 966 \| CD59 \| UniProtKB-KW 2539 \| G6PD \| UniProtKB-KW 146059 \| CDAN1 \| UniProtKB-KW;GHR 286 \| ANK1 \| UniProtKB-KW;GHR 3783 \| KCNN4 \| UniProtKB-KW 2821 \| GPI \| UniProtKB-KW 2035 \| EPB41 \| UniProtKB-KW 9780 \| PIEZO1 \| UniProtKB-KW 7167 \| TPI1 \| UniProtKB-KW 9663 \| LPIN2 \| UniProtKB-KW 6007 \| RHD \| CTD_human 2038 \| EPB42 \| UniProtKB-KW;GHR 2729 \| GCLC \| UniProtKB-KW 6006 \| RHCE \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 2038 \| EPB42 \| CIPHER 6007 \| RHD \| CTD_human 6006 \| RHCE \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:231) 55 \| ACPP \| 1.191 \| DISEASES 120 \| ADD3 \| 2.197 \| DISEASES 203 \| AK1 \| 1.464 \| DISEASES 212 \| ALAS2 \| 1.306 \| DISEASES 226 \| ALDOA \| 1.512 \| DISEASES 287 \| ANK2 \| 2.267 \| DISEASES 310 \| ANXA7 \| 1.932 \| DISEASES 9070 \| ASH2L \| 1.15 \| DISEASES 54829 \| ASPN \| 1.204 \| DISEASES 286410 \| ATP11C \| 1.624 \| DISEASES 488 \| ATP2A2 \| 1.16 \| DISEASES 10396 \| ATP8A1 \| 1.691 \| DISEASES 7917 \| BAG6 \| 1.16 \| DISEASES 29994 \| BAZ2B \| 1.063 \| DISEASES 53335 \| BCL11A \| 4.554 \| DISEASES 617 \| BCS1L \| 4.139 \| DISEASES 84529 \| C15orf41 \| 2.76 \| DISEASES 25912 \| C1orf43 \| 2.227 \| DISEASES 9254 \| CACNA2D2 \| 1.081 \| DISEASES 51806 \| CALML5 \| 1.63 \| DISEASES 831 \| CAST \| 1.002 \| DISEASES 11314 \| CD300A \| 1.523 \| DISEASES 951 \| CD37 \| 1.303 \| DISEASES 958 \| CD40 \| 1.25 \| DISEASES 959 \| CD40LG \| 2.785 \| DISEASES 960 \| CD44 \| 1.771 \| DISEASES 961 \| CD47 \| 3.075 \| DISEASES 921 \| CD5 \| 1.314 \| DISEASES 922 \| CD5L \| 2.581 \| DISEASES 146059 \| CDAN1 \| 5.521 \| DISEASES 988 \| CDC5L \| 1.029 \| DISEASES 26097 \| CHTOP \| 2.123 \| DISEASES 9635 \| CLCA2 \| 2.415 \| DISEASES 22802 \| CLCA4 \| 2.513 \| DISEASES 1192 \| CLIC1 \| 2.76 \| DISEASES 54544 \| CRCT1 \| 2.254 \| DISEASES 2017 \| CTTN \| 4.215 \| DISEASES 1523 \| CUX1 \| 1.221 \| DISEASES 6387 \| CXCL12 \| 1.253 \| DISEASES 7852 \| CXCR4 \| 1.274 \| DISEASES 1528 \| CYB5A \| 4.52 \| DISEASES 51706 \| CYB5R1 \| 4.055 \| DISEASES 1727 \| CYB5R3 \| 5.543 \| DISEASES 51167 \| CYB5R4 \| 3.729 \| DISEASES 1538 \| CYLC1 \| 2.211 \| DISEASES 1539 \| CYLC2 \| 1.96 \| DISEASES 260293 \| CYP4X1 \| 2.172 \| DISEASES 27071 \| DAPP1 \| 1.966 \| DISEASES 28988 \| DBNL \| 2.78 \| DISEASES 85458 \| DIXDC1 \| 1.347 \| DISEASES 1785 \| DNM2 \| 2.732 \| DISEASES 1786 \| DNMT1 \| 1.435 \| DISEASES 1937 \| EEF1G \| 1.346 \| DISEASES 25975 \| EGFL6 \| 1.437 \| DISEASES 1978 \| EIF4EBP1 \| 1.095 \| DISEASES 284361 \| EMC10 \| 3.378 \| DISEASES 953 \| ENTPD1 \| 2.432 \| DISEASES 377841 \| ENTPD8 \| 1.309 \| DISEASES 2035 \| EPB41 \| 5.128 \| DISEASES 2135 \| EXTL2 \| 1.519 \| DISEASES 2165 \| F13B \| 3.191 \| DISEASES 131177 \| FAM3D \| 2.128 \| DISEASES 2242 \| FES \| 1.18 \| DISEASES 2268 \| FGR \| 3.153 \| DISEASES 166752 \| FREM3 \| 1.625 \| DISEASES 6624 \| FSCN1 \| 1.772 \| DISEASES 2533 \| FYB \| 1.567 \| DISEASES 2534 \| FYN \| 2.783 \| DISEASES 2623 \| GATA1 \| 5.275 \| DISEASES 2624 \| GATA2 \| 2.46 \| DISEASES 85476 \| GFM1 \| 1.575 \| DISEASES 2689 \| GH2 \| 1.485 \| DISEASES 2821 \| GPI \| 2.368 \| DISEASES 26086 \| GPSM1 \| 1.799 \| DISEASES 9402 \| GRAP2 \| 1.257 \| DISEASES 2885 \| GRB2 \| 1.708 \| DISEASES 2886 \| GRB7 \| 1.341 \| DISEASES 2993 \| GYPA \| 4.104 \| DISEASES 2994 \| GYPB \| 2.83 \| DISEASES 2996 \| GYPE \| 1.062 \| DISEASES 3005 \| H1F0 \| 3.116 \| DISEASES 10456 \| HAX1 \| 5.263 \| DISEASES 3039 \| HBA1 \| 3.459 \| DISEASES 3043 \| HBB \| 6.759 \| DISEASES 3045 \| HBD \| 5.82 \| DISEASES 3047 \| HBG1 \| 5.275 \| DISEASES 3048 \| HBG2 \| 4.086 \| DISEASES 10767 \| HBS1L \| 3.256 \| DISEASES 23462 \| HEY1 \| 1.066 \| DISEASES 3077 \| HFE \| 2.006 \| DISEASES 148738 \| HFE2 \| 1.08 \| DISEASES 8337 \| HIST2H2AA3 \| 1.154 \| DISEASES 8338 \| HIST2H2AC \| 1.154 \| DISEASES 8349 \| HIST2H2BE \| 2.983 \| DISEASES 3240 \| HP \| 3.413 \| DISEASES 9653 \| HS2ST1 \| 4.176 \| DISEASES 9953 \| HS3ST3B1 \| 1.774 \| DISEASES 222537 \| HS3ST5 \| 3.224 \| DISEASES 64711 \| HS3ST6 \| 2.473 \| DISEASES 90161 \| HS6ST2 \| 1.479 \| DISEASES 51182 \| HSPA14 \| 1.285 \| DISEASES 3386 \| ICAM4 \| 1.33 \| DISEASES 23463 \| ICMT \| 1.668 \| DISEASES 100423062 \| IGLL5 \| 1.068 \| DISEASES 3608 \| ILF2 \| 1.288 \| DISEASES 27152 \| INTU \| 1.405 \| DISEASES 3717 \| JAK2 \| 1.05 \| DISEASES 3725 \| JUN \| 1.547 \| DISEASES 3767 \| KCNJ11 \| 2.109 \| DISEASES 200845 \| KCTD6 \| 2.697 \| DISEASES 23028 \| KDM1A \| 1.344 \| DISEASES 3792 \| KEL \| 1.595 \| DISEASES 3932 \| LCK \| 2.785 \| DISEASES 197021 \| LCTL \| 1.396 \| DISEASES 4067 \| LYN \| 4.013 \| DISEASES 23499 \| MACF1 \| 1.076 \| DISEASES 4094 \| MAF \| 2.378 \| DISEASES 23764 \| MAFF \| 2.093 \| DISEASES 7975 \| MAFK \| 2.908 \| DISEASES 347541 \| MAGEB5 \| 2.765 \| DISEASES 11184 \| MAP4K1 \| 2.875 \| DISEASES 7867 \| MAPKAPK3 \| 1.078 \| DISEASES 4151 \| MB \| 1.231 \| DISEASES 4170 \| MCL1 \| 1.115 \| DISEASES 8972 \| MGAM \| 1.309 \| DISEASES 4248 \| MGAT3 \| 1.534 \| DISEASES 284424 \| MIR7-3HG \| 1.245 \| DISEASES 4519 \| MT-CYB \| 2.083 \| DISEASES 389125 \| MUSTN1 \| 1.812 \| DISEASES 4700 \| NDUFA6 \| 1.285 \| DISEASES 91624 \| NEXN \| 1.91 \| DISEASES 4779 \| NFE2L1 \| 2.229 \| DISEASES 58160 \| NFE4 \| 3.234 \| DISEASES 4802 \| NFYC \| 1.328 \| DISEASES 9221 \| NOLC1 \| 1.528 \| DISEASES 8131 \| NPRL3 \| 4.515 \| DISEASES 140767 \| NRSN1 \| 2.505 \| DISEASES 84033 \| OBSCN \| 1.118 \| DISEASES 283111 \| OR51V1 \| 2.445 \| DISEASES 5079 \| PAX5 \| 2.554 \| DISEASES 27328 \| PCDH11X \| 1.804 \| DISEASES 56147 \| PCDHA1 \| 2.326 \| DISEASES 5110 \| PCMT1 \| 2.332 \| DISEASES 10954 \| PDIA5 \| 1.673 \| DISEASES 5213 \| PFKM \| 1.22 \| DISEASES 5313 \| PKLR \| 4.215 \| DISEASES 51177 \| PLEKHO1 \| 2.321 \| DISEASES 5440 \| POLR2K \| 2.386 \| DISEASES 5441 \| POLR2L \| 2.383 \| DISEASES 5450 \| POU2AF1 \| 2.141 \| DISEASES 56342 \| PPAN \| 1.545 \| DISEASES 84919 \| PPP1R15B \| 1.657 \| DISEASES 56980 \| PRDM10 \| 1.033 \| DISEASES 5592 \| PRKG1 \| 1.537 \| DISEASES 5634 \| PRPS2 \| 1.011 \| DISEASES 5710 \| PSMD4 \| 2.423 \| DISEASES 9050 \| PSTPIP2 \| 1.371 \| DISEASES 5788 \| PTPRC \| 1.9 \| DISEASES 55278 \| QRSL1 \| 1.39 \| DISEASES 8437 \| RASAL1 \| 1.021 \| DISEASES 23029 \| RBM34 \| 3.095 \| DISEASES 6005 \| RHAG \| 3.389 \| DISEASES 6007 \| RHD \| 1.343 \| DISEASES 56254 \| RNF20 \| 1.306 \| DISEASES 4919 \| ROR1 \| 1.229 \| DISEASES 6139 \| RPL17 \| 2.428 \| DISEASES 6207 \| RPS13 \| 2.782 \| DISEASES 6209 \| RPS15 \| 1.97 \| DISEASES 6222 \| RPS18 \| 1.07 \| DISEASES 6223 \| RPS19 \| 2.338 \| DISEASES 6224 \| RPS20 \| 1.26 \| DISEASES 6227 \| RPS21 \| 2.675 \| DISEASES 6230 \| RPS25 \| 2.249 \| DISEASES 6231 \| RPS26 \| 1.966 \| DISEASES 6188 \| RPS3 \| 3.512 \| DISEASES 6189 \| RPS3A \| 5.257 \| DISEASES 338324 \| S100A7A \| 1.928 \| DISEASES 22908 \| SACM1L \| 1.297 \| DISEASES 6304 \| SATB1 \| 1.809 \| DISEASES 60485 \| SAV1 \| 1.867 \| DISEASES 388228 \| SBK1 \| 1.6 \| DISEASES 462 \| SERPINC1 \| 2.235 \| DISEASES 29072 \| SETD2 \| 1.405 \| DISEASES 253970 \| SFTA3 \| 3.393 \| DISEASES 729238 \| SFTPA2 \| 1.317 \| DISEASES 30011 \| SH3KBP1 \| 1.19 \| DISEASES 6461 \| SHB \| 3.2 \| DISEASES 51312 \| SLC25A37 \| 1.193 \| DISEASES 65010 \| SLC26A6 \| 1.768 \| DISEASES 116369 \| SLC26A8 \| 2.772 \| DISEASES 83650 \| SLC35G5 \| 2.474 \| DISEASES 6522 \| SLC4A2 \| 1.236 \| DISEASES 6533 \| SLC6A6 \| 1.516 \| DISEASES 133308 \| SLC9B2 \| 1.719 \| DISEASES 6597 \| SMARCA4 \| 1.073 \| DISEASES 6605 \| SMARCE1 \| 1.005 \| DISEASES 9301 \| SNORD27 \| 1.381 \| DISEASES 6654 \| SOS1 \| 1.264 \| DISEASES 55553 \| SOX6 \| 2.788 \| DISEASES 6708 \| SPTA1 \| 4.887 \| DISEASES 6710 \| SPTB \| 4.174 \| DISEASES 10011 \| SRA1 \| 1.172 \| DISEASES 6714 \| SRC \| 3.031 \| DISEASES 6744 \| SSFA2 \| 1.779 \| DISEASES 8428 \| STK24 \| 1.229 \| DISEASES 161497 \| STRC \| 1.167 \| DISEASES 25777 \| SUN2 \| 1.18 \| DISEASES 6850 \| SYK \| 3.113 \| DISEASES 83860 \| TAF3 \| 2.576 \| DISEASES 6877 \| TAF5 \| 2.268 \| DISEASES 7018 \| TF \| 2.98 \| DISEASES 7037 \| TFRC \| 2.75 \| DISEASES 7091 \| TLE4 \| 1.09 \| DISEASES 7124 \| TNF \| 1.16 \| DISEASES 25987 \| TSKU \| 1.155 \| DISEASES 7318 \| UBA7 \| 2.141 \| DISEASES 9898 \| UBAP2L \| 1.956 \| DISEASES 7391 \| USF1 \| 2.078 \| DISEASES 10090 \| UST \| 2.671 \| DISEASES 7409 \| VAV1 \| 3.522 \| DISEASES 7716 \| VEZF1 \| 2.032 \| DISEASES 7454 \| WAS \| 2.192 \| DISEASES 10163 \| WASF2 \| 1.373 \| DISEASES 23038 \| WDTC1 \| 1.27 \| DISEASES 56949 \| XAB2 \| 1.683 \| DISEASES 9213 \| XPR1 \| 1.743 \| DISEASES 404281 \| YY2 \| 2.255 \| DISEASES 51341 \| ZBTB7A \| 1.467 \| DISEASES 161882 \| ZFPM1 \| 1.382 \| DISEASES 10782 \| ZNF274 \| 1.494 \| DISEASES 283337 \| ZNF740 \| 1.515 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1010
Disease	congenital hemolytic anemia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0001903 \| Anemia \| 1 HP:0001744 \| Splenomegaly \| 1 HP:0100724 \| Hypercoagulability \| 1 HP:0001250 \| Seizures \| 1

Disease ID	1010
Disease	congenital hemolytic anemia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:5) C2203646 \| jaundice C1963148 \| iron overload C1961102 \| acute lymphoblastic leukemia C0023449 \| acute lymphoblastic leukaemia C0017926 \| phosphofructokinase deficiency
Text Mined Symptom	(Waiting for update.)

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	1010
Disease	congenital hemolytic anemia
Case	(Waiting for update.)

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