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| TissGeneSummary for HBB |
 Gene summary |
| Basic gene information | Gene symbol | HBB |
| Gene name | hemoglobin, beta | |
| Synonyms | CD113t-C|beta-globin | |
| Cytomap | UCSC genome browser: 11p15.5 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000518.4, | |
| Description | beta globin chainhemoglobin beta chainhemoglobin subunit beta | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 141900 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000244734 | ||
| HPRD : 00786 | ||
| Vega : OTTHUMG00000066678 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HBB | |
| BioGPS: 3043 | ||
| Pathway | NCI Pathway Interaction Database: HBB | |
| KEGG: HBB | ||
| REACTOME: HBB | ||
| Pathway Commons: HBB | ||
| Context | iHOP: HBB | |
| ligand binding site mutation search in PubMed: HBB | ||
| UCL Cancer Institute: HBB | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | HPA,TiGER | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Bone marrow | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LAML | |
| Reference showing the relevant tissue of HBB | ||
| Description by TissGene annotations | Cancer gene Fused withTSGene | |
| * Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO term | PubMed ID | GO:0010942 | positive regulation of cell death | 19740759 | GO:0042542 | response to hydrogen peroxide | 19740759 | GO:0042744 | hydrogen peroxide catabolic process | 19740759 | GO:0051291 | protein heterooligomerization | 19740759 | GO:0055114 | oxidation-reduction process | 19740759 | GO:0010942 | positive regulation of cell death | 19740759 | GO:0042542 | response to hydrogen peroxide | 19740759 | GO:0042744 | hydrogen peroxide catabolic process | 19740759 | GO:0051291 | protein heterooligomerization | 19740759 | GO:0055114 | oxidation-reduction process | 19740759 |
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| TissGeneExp for HBB |
| Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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| Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
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| Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| - Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
| Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
| LIHC | 1.744647828 | 4.048047828 | -2.3034 | 4.48E-12 | 7.77E-11 |
| LUSC | 1.452937475 | 6.694129632 | -5.241192157 | 1.46E-27 | 4.57E-26 |
| THCA | 2.290550337 | 4.730918133 | -2.440367797 | 2.42E-14 | 2.79E-13 |
| BRCA | -0.215836312 | 4.047502284 | -4.263338596 | 1.40E-35 | 2.70E-34 |
| STAD | 0.599126078 | 3.963076078 | -3.36395 | 3.88E-09 | 2.36E-07 |
| LUAD | 2.840526725 | 6.869021552 | -4.028494828 | 8.52E-19 | 1.36E-17 |
| COAD | 0.731215982 | 4.417881367 | -3.686665385 | 3.65E-13 | 1.11E-11 |
| ESCA | 0.394028919 | 2.489856192 | -2.095827273 | 0.00446 | 0.037011343 |
| HNSC | 0.092636107 | 1.517722154 | -1.425086047 | 0.0143 | 0.033515625 |
| KICH | 3.152147828 | 4.158131828 | -1.005984 | 0.0155 | 0.026856918 |
| KIRP | 1.698307328 | 3.344894828 | -1.6465875 | 0.00175 | 0.004525375 |
| PRAD | 0.201510213 | 1.459079444 | -1.257569231 | 5.60E-05 | 0.000249992 |
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| TissGene-miRNA for HBB |
| Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
| Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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| TissGeneMut for HBB |
| TissGeneSNV for HBB |
| nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
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| Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.P101S | SKCM | 2 |
| p.P101L | SKCM | 1 |
| p.P37A | STAD | 1 |
| p.V135L | LUSC | 1 |
| p.A14V | THYM | 1 |
| p.S90G | ESCA | 1 |
| p.P52S | SKCM | 1 |
| p.G75C | LUAD | 1 |
| p.W38* | PAAD | 1 |
| p.H144Y | SKCM | 1 |
| p.W38X | PAAD | 1 |
| p.G17D | SKCM | 1 |
| p.H117R | UCEC | 1 |
| p.E44K | SKCM | 1 |
| p.L79M | LUAD | 1 |
| p.G25S | SKCM | 1 |
| p.G70V | LUAD | 1 |
| p.G65D | THYM | 1 |
| p.G75C | KIRC | 1 |
| p.A14S | BRCA | 1 |
| p.M56I | SKCM | 1 |
| p.E8D | UCEC | 1 |
| p.G70C | LUAD | 1 |
| p.K83N | PRAD | 1 |
| p.D48N | SKCM | 1 |
| p.Q132H | BLCA | 1 |
| p.N58Y | LUAD | 1 |
| p.V35F | LGG | 1 |
| p.C94Y | COAD | 1 |
| p.A129S | LUAD | 1 |
| p.H144Q | LUAD | 1 |
| p.P126T | LUAD | 1 |
| p.V68L | LUSC | 1 |
| p.A14V | ESCA | 1 |
| p.F43I | THYM | 1 |
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| TissGeneCNV for HBB |
| Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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| TissGeneFusions for HBB |
| Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
| Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
| Chimerdb3.0 | ChiTaRs | NA | DA941422 | HBB-ZMIZ2 | chr11:5248301 | chr7:44804764 | |
| Chimerdb3.0 | ChiTaRs | NA | AJ710574 | HBB-LRRC2 | chr11:5248285 | chr3:46558688 | |
| Chimerdb3.0 | ChiTaRs | NA | BF899407 | MOGS-HBB | chr2:74689159 | chr11:5246906 | |
| Chimerdb3.0 | ChiTaRs | NA | BE843851 | UGT3A2-HBB | chr5:36035897 | chr11:5246826 | |
| Chimerdb3.0 | ChiTaRs | NA | BF899427 | MOGS-HBB | chr2:74688694 | chr11:5246903 | |
| Chimerdb3.0 | ChiTaRs | NA | AJ710681 | HBB-RNH1 | chr11:5248285 | chr11:494514 | |
| Chimerdb3.0 | ChiTaRs | NA | BI030799 | HBB-TCEANC2 | chr11:5248197 | chr1:54554362 | |
| Chimerdb3.0 | ChiTaRs | NA | AA367796 | RPLP2-HBB | chr11:812870 | chr11:5248004 | |
| Chimerdb3.0 | ChiTaRs | NA | AI133247 | ZDHHC20-HBB | chr13:21950021 | chr11:5248003 |
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| TissGeneNet for HBB |
| Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
| BRCA (tumor) | BRCA (normal) |
| HBB, UBC, GABARAPL2, PITX3, UCHL5, DMWD, UPF3A, HBA1, HBG2, HP, UPF3B, HBZ, SELT (tumor) | HBB, UBC, GABARAPL2, PITX3, UCHL5, DMWD, UPF3A, HBA1, HBG2, HP, UPF3B, HBZ, SELT (normal) |
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| COAD (tumor) | COAD (normal) |
| HBB, UBC, GABARAPL2, PITX3, UCHL5, DMWD, UPF3A, HBA1, HBG2, HP, UPF3B, HBZ, SELT (tumor) | HBB, UBC, GABARAPL2, PITX3, UCHL5, DMWD, UPF3A, HBA1, HBG2, HP, UPF3B, HBZ, SELT (normal) |
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| HNSC (tumor) | HNSC (normal) |
| HBB, UBC, GABARAPL2, PITX3, UCHL5, DMWD, UPF3A, HBA1, HBG2, HP, UPF3B, HBZ, SELT (tumor) | HBB, UBC, GABARAPL2, PITX3, UCHL5, DMWD, UPF3A, HBA1, HBG2, HP, UPF3B, HBZ, SELT (normal) |
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| KICH (tumor) | KICH (normal) |
| HBB, UBC, GABARAPL2, PITX3, UCHL5, DMWD, UPF3A, HBA1, HBG2, HP, UPF3B, HBZ, SELT (tumor) | HBB, UBC, GABARAPL2, PITX3, UCHL5, DMWD, UPF3A, HBA1, HBG2, HP, UPF3B, HBZ, SELT (normal) |
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| KIRC (tumor) | KIRC (normal) |
| HBB, UBC, GABARAPL2, PITX3, UCHL5, DMWD, UPF3A, HBA1, HBG2, HP, UPF3B, HBZ, SELT (tumor) | HBB, UBC, GABARAPL2, PITX3, UCHL5, DMWD, UPF3A, HBA1, HBG2, HP, UPF3B, HBZ, SELT (normal) |
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| KIRP (tumor) | KIRP (normal) |
| HBB, UBC, GABARAPL2, PITX3, UCHL5, DMWD, UPF3A, HBA1, HBG2, HP, UPF3B, HBZ, SELT (tumor) | HBB, UBC, GABARAPL2, PITX3, UCHL5, DMWD, UPF3A, HBA1, HBG2, HP, UPF3B, HBZ, SELT (normal) |
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| LIHC (tumor) | LIHC (normal) |
| HBB, UBC, GABARAPL2, PITX3, UCHL5, DMWD, UPF3A, HBA1, HBG2, HP, UPF3B, HBZ, SELT (tumor) | HBB, UBC, GABARAPL2, PITX3, UCHL5, DMWD, UPF3A, HBA1, HBG2, HP, UPF3B, HBZ, SELT (normal) |
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| LUAD (tumor) | LUAD (normal) |
| HBB, UBC, GABARAPL2, PITX3, UCHL5, DMWD, UPF3A, HBA1, HBG2, HP, UPF3B, HBZ, SELT (tumor) | HBB, UBC, GABARAPL2, PITX3, UCHL5, DMWD, UPF3A, HBA1, HBG2, HP, UPF3B, HBZ, SELT (normal) |
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| LUSC (tumor) | LUSC (normal) |
| HBB, UBC, GABARAPL2, PITX3, UCHL5, DMWD, UPF3A, HBA1, HBG2, HP, UPF3B, HBZ, SELT (tumor) | HBB, UBC, GABARAPL2, PITX3, UCHL5, DMWD, UPF3A, HBA1, HBG2, HP, UPF3B, HBZ, SELT (normal) |
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| PRAD (tumor) | PRAD (normal) |
| HBB, UBC, GABARAPL2, PITX3, UCHL5, DMWD, UPF3A, HBA1, HBG2, HP, UPF3B, HBZ, SELT (tumor) | HBB, UBC, GABARAPL2, PITX3, UCHL5, DMWD, UPF3A, HBA1, HBG2, HP, UPF3B, HBZ, SELT (normal) |
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| STAD (tumor) | STAD (normal) |
| HBB, UBC, GABARAPL2, PITX3, UCHL5, DMWD, UPF3A, HBA1, HBG2, HP, UPF3B, HBZ, SELT (tumor) | HBB, UBC, GABARAPL2, PITX3, UCHL5, DMWD, UPF3A, HBA1, HBG2, HP, UPF3B, HBZ, SELT (normal) |
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| THCA (tumor) | THCA (normal) |
| HBB, UBC, GABARAPL2, PITX3, UCHL5, DMWD, UPF3A, HBA1, HBG2, HP, UPF3B, HBZ, SELT (tumor) | HBB, UBC, GABARAPL2, PITX3, UCHL5, DMWD, UPF3A, HBA1, HBG2, HP, UPF3B, HBZ, SELT (normal) |
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| TissGeneProg for HBB |
| Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
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| Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| TissGeneClin for HBB |
| TissGeneDrug for HBB |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| DB00893 | Iron Dextran | Activator | Small molecule | Approved|Vet_approved |
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| TissGeneDisease for HBB |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0005283 | beta Thalassemia | 329 | BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT |
| umls:C0002895 | Anemia, Sickle Cell | 134 | BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT |
| umls:C0039730 | Thalassemia | 112 | BeFree,GAD,LHGDN |
| umls:C0002312 | alpha-Thalassemia | 39 | BeFree,CLINVAR,CTD_human,GAD,LHGDN |
| umls:C0019045 | Hemoglobinopathies | 39 | BeFree,CLINVAR,CTD_human,GAD |
| umls:C0002875 | Cooley's anemia | 29 | BeFree |
| umls:C0023440 | Acute Erythroblastic Leukemia | 28 | BeFree |
| umls:C0271980 | beta^0^ Thalassemia | 27 | BeFree,CLINVAR |
| umls:C0271994 | Hereditary persistence of fetal hemoglobin thalassemia | 26 | BeFree |
| umls:C0002871 | Anemia | 25 | BeFree,GAD,RGD |
| umls:C0019025 | Hemoglobin F Disease | 23 | BeFree |
| umls:C1456873 | alpha^+^ Thalassemia | 19 | BeFree |
| umls:C0024530 | Malaria | 18 | BeFree,GAD,LHGDN |
| umls:C0472767 | Beta thalassemia intermedia | 15 | BeFree,CLINVAR,ORPHANET |
| umls:C0271979 | Thalassemia Intermedia | 14 | BeFree,CLINVAR |
| umls:C0271985 | Delta-Beta Thalassemia | 14 | BeFree,CLINVAR,ORPHANET |
| umls:C0024535 | Malaria, Falciparum | 11 | BeFree,CTD_human,GAD |
| umls:C0019693 | HIV Infections | 9 | BeFree,GAD |
| umls:C0878521 | Beta thalassemia trait | 9 | BeFree |
| umls:C0037054 | Sickle Cell Trait | 8 | BeFree,GAD |
| umls:C0018790 | Cardiac Arrest | 7 | BeFree |
| umls:C0002878 | Anemia, Hemolytic | 6 | BeFree,CLINVAR |
| umls:C0869532 | Beta thalassemia minor | 6 | BeFree |
| umls:C0019034 | Hemoglobin SC Disease | 5 | BeFree,GAD,ORPHANET |
| umls:C0271990 | delta-Thalassemia | 5 | BeFree |
| umls:C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | 5 | BeFree,GAD |
| umls:C0015929 | Fetal Diseases | 4 | GAD |
| umls:C0018939 | Hematological Disease | 4 | BeFree |
| umls:C0027627 | Neoplasm Metastasis | 4 | BeFree |
| umls:C0032461 | Polycythemia | 4 | BeFree,CTD_human |
| umls:C0242723 | Parasitemia | 4 | BeFree,GAD |
| umls:C0271987 | ^A^gamma delta beta^0^ thalassemia | 4 | BeFree |
| umls:C0085576 | Iron-Refractory Iron Deficiency Anemia | 3 | BeFree |
| umls:C0878520 | BETA THALASSEMIA, HETEROZYGOUS | 3 | BeFree |
| umls:C2825560 | S-Beta Thalassemia | 3 | BeFree |
| umls:C3161373 | Dominant thalassemia | 3 | BeFree |
| umls:C0006142 | Malignant neoplasm of breast | 2 | BeFree |
| umls:C0008350 | Cholelithiasis | 2 | GAD |
| umls:C0010674 | Cystic Fibrosis | 2 | BeFree |
| umls:C0015230 | Exanthema | 2 | BeFree |
| umls:C0019340 | Herpes NOS | 2 | BeFree |
| umls:C0019348 | Herpes Simplex Infections | 2 | BeFree |
| umls:C0020538 | Hypertensive disease | 2 | GAD |
| umls:C0024299 | Lymphoma | 2 | BeFree |
| umls:C0038454 | Cerebrovascular accident | 2 | BeFree,GAD |
| umls:C0152264 | Familial erythrocytosis | 2 | BeFree |
| umls:C0162872 | Aortic Aneurysm, Thoracic | 2 | BeFree |
| umls:C0206664 | Teratocarcinoma | 2 | BeFree |
| umls:C0238644 | Anemia, severe | 2 | BeFree |
| umls:C0678222 | Breast Carcinoma | 2 | BeFree |
| umls:C0702157 | Thalassemia trait | 2 | BeFree |
| umls:C0848332 | Spots on skin | 2 | BeFree |
| umls:C1527405 | Erythrocytosis | 2 | BeFree,CLINVAR |
| umls:C1842937 | AURAL ATRESIA, CONGENITAL | 2 | BeFree |
| umls:C0001925 | Albuminuria | 1 | GAD |
| umls:C0002881 | Anemia, Hemolytic, Congenital | 1 | BeFree |
| umls:C0002884 | Hypochromic anemia | 1 | GAD |
| umls:C0006012 | Borderline Personality Disorder | 1 | BeFree |
| umls:C0006287 | Bronchopulmonary Dysplasia | 1 | BeFree |
| umls:C0008031 | Chest Pain | 1 | BeFree |
| umls:C0010054 | Coronary Arteriosclerosis | 1 | GAD |
| umls:C0010068 | Coronary heart disease | 1 | GAD |
| umls:C0010520 | Cyanosis | 1 | CTD_human |
| umls:C0011854 | Diabetes Mellitus, Insulin-Dependent | 1 | GAD |
| umls:C0013502 | Echinococcosis | 1 | CTD_human |
| umls:C0017152 | Gastritis | 1 | BeFree |
| umls:C0018784 | Sensorineural Hearing Loss (disorder) | 1 | GAD |
| umls:C0018995 | Hemochromatosis | 1 | GAD |
| umls:C0019021 | Hemoglobin C Disease | 1 | GAD,ORPHANET |
| umls:C0019054 | Hemolysis (disorder) | 1 | GAD |
| umls:C0019163 | Hepatitis B | 1 | BeFree |
| umls:C0020305 | Hydrops Fetalis | 1 | GAD |
| umls:C0021368 | Inflammation | 1 | GAD |
| umls:C0024534 | Malaria, Cerebral | 1 | GAD |
| umls:C0025637 | Methemoglobinemia | 1 | CTD_human |
| umls:C0026946 | Mycoses | 1 | BeFree |
| umls:C0029925 | Ovarian Carcinoma | 1 | BeFree |
| umls:C0030193 | Pain | 1 | GAD |
| umls:C0031485 | Phenylketonurias | 1 | BeFree |
| umls:C0032463 | Polycythemia Vera | 1 | CTD_human |
| umls:C0032964 | Pregnancy Complications, Hematologic | 1 | GAD |
| umls:C0032965 | Pregnancy Complications, Infectious | 1 | GAD |
| umls:C0035455 | Rhinitis | 1 | BeFree |
| umls:C0040136 | Thyroid Neoplasm | 1 | LHGDN |
| umls:C0040592 | Trachoma | 1 | GAD |
| umls:C0085568 | Buruli Ulcer | 1 | GAD |
| umls:C0151699 | Intracranial Hemorrhages | 1 | RGD |
| umls:C0151744 | Myocardial Ischemia | 1 | GAD |
| umls:C0154089 | Carcinoma in situ of penis | 1 | BeFree |
| umls:C0162316 | Iron deficiency anemia | 1 | GAD |
| umls:C0162429 | Malnutrition | 1 | LHGDN |
| umls:C0221019 | Sickle cell-beta-thalassemia | 1 | BeFree,ORPHANET |
| umls:C0238461 | Anaplastic thyroid carcinoma | 1 | BeFree |
| umls:C0239946 | Fibrosis, Liver | 1 | BeFree |
| umls:C0242339 | Dyslipidemias | 1 | GAD |
| umls:C0242656 | Disease Progression | 1 | GAD |
| umls:C0243026 | Sepsis | 1 | LHGDN |
| umls:C0263454 | Chloracne | 1 | CTD_human |
| umls:C0268731 | Renal glomerular disease | 1 | BeFree |
| umls:C0271930 | Anemia of pregnancy | 1 | GAD |
| umls:C0282193 | Iron Overload | 1 | BeFree |
| umls:C0302592 | Cervix carcinoma | 1 | BeFree |
| umls:C0340543 | Familial primary pulmonary hypertension | 1 | BeFree |
| umls:C0343643 | Facial wart | 1 | BeFree |
| umls:C0472763 | Alpha thalassemia-2 trait | 1 | BeFree |
| umls:C0494165 | Secondary malignant neoplasm of liver | 1 | BeFree |
| umls:C0524910 | Hepatitis C, Chronic | 1 | BeFree,LHGDN |
| umls:C0740577 | Acute abdominal pain | 1 | BeFree |
| umls:C0751434 | Classical phenylketonuria | 1 | BeFree |
| umls:C0857812 | Sickle cell-beta^+^-thalassemia | 1 | BeFree,ORPHANET |
| umls:C1140680 | Malignant neoplasm of ovary | 1 | BeFree |
| umls:C2873756 | Severe beta thalassemia | 1 | BeFree |
| umls:C2931822 | Nasopharyngeal carcinoma | 1 | BeFree |
| umls:C3811653 | Experimental Organism Basal Cell Carcinoma | 1 | BeFree |
| umls:C0238159 | Hemoglobin E disease | 0 | ORPHANET |
| umls:C0272080 | Hemoglobin D disease | 0 | ORPHANET |
| umls:C0272084 | Hemoglobin SD disease | 0 | ORPHANET |
| umls:C0272085 | Sickle cell-hemoglobin E disease | 0 | ORPHANET |
| umls:C0472777 | Hemoglobin E/beta thalassemia disease | 0 | ORPHANET |
| umls:C0599528 | beta thalassemia major anemia | 0 | CLINVAR |
| umls:C0700299 | Heinz Body Anemias | 0 | CLINVAR,CTD_human,ORPHANET |
| umls:C1264000 | Sickle cell-Hemoglobin O Arab disease | 0 | CLINVAR |
| umls:C1841621 | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 | 0 | CLINVAR |
| umls:C1858990 | Beta Thalassemia, Dominant Inclusion Body Type | 0 | CLINVAR,CTD_human,ORPHANET |
| umls:C2720293 | MALARIA, RESISTANCE TO | 0 | CLINVAR |
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