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| TissGeneSummary for ABCA4 |
 Gene summary |
| Basic gene information | Gene symbol | ABCA4 |
| Gene name | ATP-binding cassette, sub-family A (ABC1), member 4 | |
| Synonyms | ABC10|ABCR|ARMD2|CORD3|FFM|RMP|RP19|STGD|STGD1 | |
| Cytomap | UCSC genome browser: 1p22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000350.2, | |
| Description | ATP binding cassette transporterATP-binding cassette sub-family A member 4ATP-binding cassette transporter, retinal-specificATP-binding transporter, retina-specificRIM ABC transporterRIM proteinphotoreceptor rim proteinretina-specific ABC transport | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 601691 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000198691 | ||
| HPRD : 03408 | ||
| Vega : OTTHUMG00000010622 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ABCA4 | |
| BioGPS: 24 | ||
| Pathway | NCI Pathway Interaction Database: ABCA4 | |
| KEGG: ABCA4 | ||
| REACTOME: ABCA4 | ||
| Pathway Commons: ABCA4 | ||
| Context | iHOP: ABCA4 | |
| ligand binding site mutation search in PubMed: ABCA4 | ||
| UCL Cancer Institute: ABCA4 | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | KidneyEye | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | KIRC,KIRP,KICHUVM | |
| Reference showing the relevant tissue of ABCA4 | ||
| Description by TissGene annotations | ||
| * 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 |
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| TissGeneExp for ABCA4 |
| 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 |
| KIRC | -0.745615648 | 4.349369074 | -5.094984722 | 4.37E-29 | 7.71E-28 |
| KIRP | -1.338927454 | 3.748863171 | -5.087790625 | 1.24E-14 | 3.12E-13 |
| KICH | -1.695798204 | 5.304909796 | -7.000708 | 6.39E-16 | 1.62E-14 |
| PRAD | -1.714126973 | -0.560242358 | -1.153884615 | 0.000214 | 0.000835495 |
| LUAD | 2.349538279 | 0.663388279 | 1.68615 | 4.58E-05 | 0.00012143 |
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| TissGene-miRNA for ABCA4 |
| 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 ABCA4 |
| TissGeneSNV for ABCA4 |
| 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.G329E | SKCM | 2 |
| p.T1537M | UCEC | 2 |
| p.R1963C | SKCM | 2 |
| p.G396E | SKCM | 2 |
| p.E1270K | SKCM | 2 |
| p.D403Y | HNSC | 2 |
| p.L2035F | SKCM | 2 |
| p.E2254* | CESC | 1 |
| p.E2046X | COAD | 1 |
| p.R487Q | HNSC | 1 |
| p.R2040Q | SKCM | 1 |
| p.G329R | SKCM | 1 |
| p.F1397V | LUSC | 1 |
| p.A1683V | HNSC | 1 |
| p.A1791V | SKCM | 1 |
| p.A1290T | COAD | 1 |
| p.E2048K | LGG | 1 |
| p.W1872C | STAD | 1 |
| p.R1129S | HNSC | 1 |
| p.S887L | SKCM | 1 |
| p.R152* | STAD | 1 |
| p.N247K | KIRC | 1 |
| p.V1774I | LUSC | 1 |
| p.G2D | UCEC | 1 |
| p.S2115R | COAD | 1 |
| p.V1686M | COAD | 1 |
| p.W1449X | SKCM | 1 |
| p.E898K | PRAD | 1 |
| p.P381S | SKCM | 1 |
| p.K932N | READ | 1 |
| p.P1570S | SKCM | 1 |
| p.R811C | SKCM | 1 |
| p.D555G | STAD | 1 |
| p.E471X | READ | 1 |
| p.S90C | LUSC | 1 |
| p.R1705W | COAD | 1 |
| p.G1573E | OV | 1 |
| p.R187C | UCEC | 1 |
| p.Y1889* | KIRC | 1 |
| p.H142Q | LUAD | 1 |
| p.R785H | KIRP | 1 |
| p.T1997A | COAD | 1 |
| p.M450I | SKCM | 1 |
| p.E1270D | LUSC | 1 |
| p.H1871Y | SKCM | 1 |
| p.R107Q | UCEC | 1 |
| p.W387C | LUAD | 1 |
| p.D523Y | LUSC | 1 |
| p.A192T | THYM | 1 |
| p.R107Q | SKCM | 1 |
| p.S666F | SKCM | 1 |
| p.R212C | STAD | 1 |
| p.E1399K | COAD | 1 |
| p.T1480A | STAD | 1 |
| p.R2106C | THCA | 1 |
| p.M293I | LUSC | 1 |
| p.R220C | LUAD | 1 |
| p.E118K | LUAD | 1 |
| p.E471K | LUAD | 1 |
| p.G2100R | SKCM | 1 |
| p.R948C | SKCM | 1 |
| p.A626E | ESCA | 1 |
| p.A893T | PAAD | 1 |
| p.C1140* | ESCA | 1 |
| p.K391T | READ | 1 |
| p.A192T | READ | 1 |
| p.R271I | LIHC | 1 |
| p.Q185* | CESC | 1 |
| p.R1248K | SKCM | 1 |
| p.R2040X | SKCM | 1 |
| p.A781D | OV | 1 |
| p.S1116Y | READ | 1 |
| p.T952A | PAAD | 1 |
| p.A1773V | THYM | 1 |
| p.R811C | UCEC | 1 |
| p.E1758A | LUAD | 1 |
| p.S231T | SKCM | 1 |
| p.G1949V | LUAD | 1 |
| p.I40V | LIHC | 1 |
| p.S1173C | KIRP | 1 |
| p.P80T | LIHC | 1 |
| p.A893T | SKCM | 1 |
| p.E1278K | SKCM | 1 |
| p.D846Y | BRCA | 1 |
| p.S1561F | SKCM | 1 |
| p.A495D | LUSC | 1 |
| p.Q185E | BLCA | 1 |
| p.R1108C | BLCA | 1 |
| p.E939K | SKCM | 1 |
| p.R24C | UCEC | 1 |
| p.D175N | BLCA | 1 |
| p.E955K | COAD | 1 |
| p.G72E | SKCM | 1 |
| p.E207D | UCEC | 1 |
| p.S2115N | GBM | 1 |
| p.E833K | SKCM | 1 |
| p.R2149X | PAAD | 1 |
| p.L1609I | UCEC | 1 |
| p.V1433I | STAD | 1 |
| p.R2149X | READ | 1 |
| p.Y528C | STAD | 1 |
| p.L167R | LIHC | 1 |
| p.A2037V | SKCM | 1 |
| p.F441L | UCEC | 1 |
| p.R18Q | SKCM | 1 |
| p.W1449* | SKCM | 1 |
| p.F135L | BLCA | 1 |
| p.L200R | STAD | 1 |
| p.T509I | SKCM | 1 |
| p.M395I | SKCM | 1 |
| p.M2143L | BRCA | 1 |
| p.K484E | LIHC | 1 |
| p.R572Q | HNSC | 1 |
| p.E2046D | PAAD | 1 |
| p.P1757A | HNSC | 1 |
| p.G1226V | KIRP | 1 |
| p.P1869L | SKCM | 1 |
| p.S878L | UCEC | 1 |
| p.H2225N | LUAD | 1 |
| p.T1497S | OV | 1 |
| p.R107* | BLCA | 1 |
| p.L2230F | GBM | 1 |
| p.S1756Y | UCEC | 1 |
| p.K896* | SKCM | 1 |
| p.R785H | COAD | 1 |
| p.R149K | LUSC | 1 |
| p.F135L | UCEC | 1 |
| p.G194R | SKCM | 1 |
| p.E1814X | LGG | 1 |
| p.R149K | CESC | 1 |
| p.M843T | LIHC | 1 |
| p.G1961R | SKCM | 1 |
| p.R1170K | SKCM | 1 |
| p.P1909L | SKCM | 1 |
| p.E207K | UCEC | 1 |
| p.R2263P | LUSC | 1 |
| p.D2257Y | BLCA | 1 |
| p.R1443H | LIHC | 1 |
| p.E939Q | HNSC | 1 |
| p.E1666K | BLCA | 1 |
| p.R1517H | LAML | 1 |
| p.P799S | SKCM | 1 |
| p.I478N | GBM | 1 |
| p.T1187M | BRCA | 1 |
| p.R2030X | COAD | 1 |
| p.R107X | COAD | 1 |
| p.R1108H | COAD | 1 |
| p.S1282L | SKCM | 1 |
| p.P558L | SKCM | 1 |
| p.A781T | PAAD | 1 |
| p.S646F | UCEC | 1 |
| p.R2040Q | UCEC | 1 |
| p.L1576R | STAD | 1 |
| p.F1890C | SKCM | 1 |
| p.V2114M | UCEC | 1 |
| p.L1352P | LIHC | 1 |
| p.I657V | LUSC | 1 |
| p.P1451L | UCEC | 1 |
| p.Q134K | LUAD | 1 |
| p.W1618X | SKCM | 1 |
| p.E1278K | HNSC | 1 |
| p.R152X | KIRC | 1 |
| p.D600H | BRCA | 1 |
| p.Q266E | UCEC | 1 |
| p.Q1312X | COAD | 1 |
| p.K346N | LUAD | 1 |
| p.Q134E | LUAD | 1 |
| p.I1846T | LIHC | 1 |
| p.R1860W | SKCM | 1 |
| p.S34C | BLCA | 1 |
| p.V552L | OV | 1 |
| p.G274E | SKCM | 1 |
| p.T581A | SKCM | 1 |
| p.L750M | BLCA | 1 |
| p.Y1889X | KIRC | 1 |
| p.G1591R | COAD | 1 |
| p.N1165S | HNSC | 1 |
| p.A960T | UVM | 1 |
| p.V1297I | SARC | 1 |
| p.R1248I | LUAD | 1 |
| p.P656S | SKCM | 1 |
| p.G2D | PRAD | 1 |
| p.S709L | UCEC | 1 |
| p.L1525M | COAD | 1 |
| p.P868T | PRAD | 1 |
| p.A1922D | STAD | 1 |
| p.K896X | SKCM | 1 |
| p.D1956Y | CESC | 1 |
| p.R2040* | SKCM | 1 |
| p.E2132Q | CESC | 1 |
| p.D586N | SKCM | 1 |
| p.A1773V | STAD | 1 |
| p.Y1453N | LIHC | 1 |
| p.L1201R | DLBC | 1 |
| p.G1050D | GBM | 1 |
| p.R2149* | PAAD | 1 |
| p.E1814* | LGG | 1 |
| p.D1193N | SKCM | 1 |
| p.T983S | BRCA | 1 |
| p.L373S | STAD | 1 |
| p.L2260V | BLCA | 1 |
| p.R24H | STAD | 1 |
| p.F917L | LUAD | 1 |
| p.A204T | CESC | 1 |
| p.L1246F | SKCM | 1 |
| p.G194A | BLCA | 1 |
| p.R602Q | UCS | 1 |
| p.L1813F | LGG | 1 |
| p.S2255I | COAD | 1 |
| p.R1368H | OV | 1 |
| p.R723I | UCEC | 1 |
| p.P1451S | UCEC | 1 |
| p.Q447R | STAD | 1 |
| p.E2046* | UCEC | 1 |
| p.G1078E | SKCM | 1 |
| p.F1688L | KIRP | 1 |
| p.Q1413K | LUAD | 1 |
| p.M710I | HNSC | 1 |
| p.F718L | PRAD | 1 |
| p.P381S | SARC | 1 |
| p.P1268L | SKCM | 1 |
| p.R24C | SKCM | 1 |
| p.L1259I | READ | 1 |
| p.R2107H | UCEC | 1 |
| p.G1972E | SKCM | 1 |
| p.P799Q | LIHC | 1 |
| p.A2064T | STAD | 1 |
| p.I696V | STAD | 1 |
| p.G1573R | SKCM | 1 |
| p.T1277M | READ | 1 |
| p.E1228* | UCEC | 1 |
| p.G831E | SKCM | 1 |
| p.V256A | LIHC | 1 |
| p.S1531F | LUSC | 1 |
| p.M1777V | STAD | 1 |
| p.H423Y | UCEC | 1 |
| p.Q2104H | KIRC | 1 |
| p.D1279N | SKCM | 1 |
| p.E89K | SKCM | 1 |
| p.P47S | SKCM | 1 |
| p.E2048K | SKCM | 1 |
| p.G194V | OV | 1 |
| p.N688Y | LUAD | 1 |
| p.V1083A | PRAD | 1 |
| p.W871L | LIHC | 1 |
| p.G2100E | SKCM | 1 |
| p.A626V | UCEC | 1 |
| p.S984Y | COAD | 1 |
| p.Q1356X | ESCA | 1 |
| p.A1402T | LGG | 1 |
| p.Y633N | SKCM | 1 |
| p.R365I | READ | 1 |
| p.E1650K | BLCA | 1 |
| p.D155N | SKCM | 1 |
| p.R2107H | COAD | 1 |
| p.S562Y | UCS | 1 |
| p.E1057D | LIHC | 1 |
| p.P638S | UCEC | 1 |
| p.G831W | STAD | 1 |
| p.G631R | SKCM | 1 |
| p.S353F | HNSC | 1 |
| p.C1140X | ESCA | 1 |
| p.P327L | STAD | 1 |
| p.R1647K | SKCM | 1 |
| p.R219I | UCEC | 1 |
| p.V2114M | COAD | 1 |
| p.S1109* | CESC | 1 |
| p.V1433I | COAD | 1 |
| p.R943W | SKCM | 1 |
| p.Q110* | SKCM | 1 |
| p.P458T | BRCA | 1 |
| p.K1164E | LUAD | 1 |
| p.S281L | OV | 1 |
| p.D462Y | UCEC | 1 |
| p.L634P | PAAD | 1 |
| p.R1647S | BRCA | 1 |
| p.D493N | STAD | 1 |
| p.R2263Q | BLCA | 1 |
| p.W1618* | SKCM | 1 |
| p.G1559E | HNSC | 1 |
| p.P1396L | SKCM | 1 |
| p.V2112I | STAD | 1 |
| p.L1902F | LIHC | 1 |
| p.G172S | HNSC | 1 |
| p.D2065N | LGG | 1 |
| p.E1670D | CESC | 1 |
| p.T1537K | ESCA | 1 |
| p.D947N | SKCM | 1 |
| p.G2059C | LUAD | 1 |
| p.S1063* | LUAD | 1 |
| p.C1444* | HNSC | 1 |
| p.R508C | SKCM | 1 |
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| TissGeneCNV for ABCA4 |
| 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 ABCA4 |
| 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 | BM713995 | ABCA4-MMACHC | chr1:94480143 | chr1:45976723 | |
| Chimerdb3.0 | ChiTaRs | NA | AA019217 | PSAP-ABCA4 | chr10:73576194 | chr1:94492841 | |
| Chimerdb3.0 | FusionScan | UCEC | TCGA-AJ-A3EJ-01A | BCAR3-ABCA4 | In-Frame | chr1:94054533 | chr1:94495187 |
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| TissGeneNet for ABCA4 |
| 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) |
| ABCA4, CNGB1 (tumor) | ABCA4, CNGB1 (normal) |
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| COAD (tumor) | COAD (normal) |
| ABCA4, CNGB1 (tumor) | ABCA4, CNGB1 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| ABCA4, CNGB1 (tumor) | ABCA4, CNGB1 (normal) |
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| KICH (tumor) | KICH (normal) |
| ABCA4, CNGB1 (tumor) | ABCA4, CNGB1 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| ABCA4, CNGB1 (tumor) | ABCA4, CNGB1 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| ABCA4, CNGB1 (tumor) | ABCA4, CNGB1 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| ABCA4, CNGB1 (tumor) | ABCA4, CNGB1 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| ABCA4, CNGB1 (tumor) | ABCA4, CNGB1 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| ABCA4, CNGB1 (tumor) | ABCA4, CNGB1 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| ABCA4, CNGB1 (tumor) | ABCA4, CNGB1 (normal) |
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| STAD (tumor) | STAD (normal) |
| ABCA4, CNGB1 (tumor) | ABCA4, CNGB1 (normal) |
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| THCA (tumor) | THCA (normal) |
| ABCA4, CNGB1 (tumor) | ABCA4, CNGB1 (normal) |
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| TissGeneProg for ABCA4 |
| 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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| Top |
| TissGeneClin for ABCA4 |
| TissGeneDrug for ABCA4 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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| TissGeneDisease for ABCA4 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0242383 | Age related macular degeneration | 78 | BeFree,CTD_human,GAD,LHGDN |
| umls:C0035334 | Retinitis Pigmentosa | 42 | BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET |
| umls:C0035309 | Retinal Diseases | 34 | BeFree,GAD |
| umls:C0035304 | Retinal Degeneration | 25 | BeFree,GAD |
| umls:C0854723 | Retinal Dystrophies | 22 | BeFree |
| umls:C1855465 | STARGARDT DISEASE 1 (disorder) | 21 | BeFree,CLINVAR,CTD_human,MGD,UNIPROT |
| umls:C0024437 | Macular degeneration | 19 | BeFree |
| umls:C0339508 | Hereditary macular dystrophy | 16 | BeFree |
| umls:C0730292 | Macular dystrophy | 16 | BeFree |
| umls:C0339526 | Autosomal recessive retinitis pigmentosa | 11 | BeFree |
| umls:C0162309 | Adrenoleukodystrophy | 7 | BeFree |
| umls:C0730362 | Disorder of macula of retina | 7 | BeFree,GAD |
| umls:C1858806 | CONE-ROD DYSTROPHY 3 (disorder) | 7 | CLINVAR,CTD_human,MGD,UNIPROT |
| umls:C2239176 | Liver carcinoma | 6 | BeFree |
| umls:C3665346 | Unspecified visual loss | 6 | BeFree |
| umls:C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 4 | BeFree,GAD |
| umls:C0039292 | Tangier Disease | 4 | BeFree |
| umls:C3495438 | Macular Degeneration, Age-Related, 2 | 4 | CLINVAR,CTD_human,UNIPROT |
| umls:C0006142 | Malignant neoplasm of breast | 3 | BeFree |
| umls:C0015397 | Disorder of eye | 3 | BeFree |
| umls:C0023467 | Leukemia, Myelocytic, Acute | 3 | BeFree |
| umls:C0025202 | melanoma | 3 | BeFree |
| umls:C0151514 | Atrophic condition of skin | 3 | BeFree |
| umls:C0271093 | Stargardt's disease | 3 | CLINVAR,GAD,ORPHANET |
| umls:C0678222 | Breast Carcinoma | 3 | BeFree |
| umls:C1998028 | Photoreceptor degeneration | 3 | BeFree |
| umls:C0004153 | Atherosclerosis | 2 | BeFree,GAD |
| umls:C0006111 | Brain Diseases | 2 | BeFree |
| umls:C0007131 | Non-Small Cell Lung Carcinoma | 2 | BeFree |
| umls:C0007222 | Cardiovascular Diseases | 2 | BeFree |
| umls:C0010674 | Cystic Fibrosis | 2 | BeFree |
| umls:C0019163 | Hepatitis B | 2 | BeFree |
| umls:C0033847 | Pseudoxanthoma Elasticum | 2 | BeFree |
| umls:C0040560 | Toxoplasmosis, Congenital | 2 | BeFree,GAD,LHGDN |
| umls:C0041296 | Tuberculosis | 2 | BeFree |
| umls:C0041327 | Tuberculosis, Pulmonary | 2 | BeFree |
| umls:C0042798 | Low Vision | 2 | BeFree,GAD |
| umls:C0149925 | Small cell carcinoma of lung | 2 | BeFree |
| umls:C0242379 | Malignant neoplasm of lung | 2 | BeFree |
| umls:C0271084 | Exudative age-related macular degeneration | 2 | BeFree |
| umls:C0339527 | Leber Congenital Amaurosis | 2 | BeFree |
| umls:C0376358 | Malignant neoplasm of prostate | 2 | BeFree |
| umls:C0684249 | Carcinoma of lung | 2 | BeFree |
| umls:C1285162 | Degenerative disorder | 2 | BeFree |
| umls:C1536085 | Geographic Atrophy | 2 | BeFree |
| umls:C1956346 | Coronary Artery Disease | 2 | BeFree,GAD |
| umls:C0001168 | Complete obstruction | 1 | BeFree |
| umls:C0002896 | Sideroblastic anemia | 1 | BeFree |
| umls:C0003850 | Arteriosclerosis | 1 | BeFree |
| umls:C0003873 | Rheumatoid Arthritis | 1 | BeFree |
| umls:C0006118 | Brain Neoplasms | 1 | BeFree |
| umls:C0007137 | Squamous cell carcinoma | 1 | GAD |
| umls:C0008350 | Cholelithiasis | 1 | BeFree |
| umls:C0008924 | Cleft Lip | 1 | BeFree,CTD_human,GAD |
| umls:C0008925 | Cleft Palate | 1 | BeFree,GAD |
| umls:C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| umls:C0010054 | Coronary Arteriosclerosis | 1 | BeFree |
| umls:C0011303 | Demyelinating Diseases | 1 | BeFree |
| umls:C0011884 | Diabetic Retinopathy | 1 | BeFree |
| umls:C0014859 | Esophageal Neoplasms | 1 | GAD |
| umls:C0015398 | Eye Diseases, Hereditary | 1 | GAD |
| umls:C0018552 | Hamartoma | 1 | LHGDN |
| umls:C0018801 | Heart failure | 1 | BeFree |
| umls:C0018802 | Congestive heart failure | 1 | BeFree |
| umls:C0019196 | Hepatitis C | 1 | BeFree |
| umls:C0019340 | Herpes NOS | 1 | BeFree |
| umls:C0020456 | Hyperglycemia | 1 | BeFree |
| umls:C0023473 | Myeloid Leukemia, Chronic | 1 | BeFree |
| umls:C0024115 | Lung diseases | 1 | BeFree |
| umls:C0024530 | Malaria | 1 | BeFree |
| umls:C0025517 | Metabolic Diseases | 1 | BeFree |
| umls:C0026850 | Muscular Dystrophy | 1 | BeFree |
| umls:C0027051 | Myocardial Infarction | 1 | BeFree |
| umls:C0027627 | Neoplasm Metastasis | 1 | BeFree |
| umls:C0027819 | Neuroblastoma | 1 | BeFree |
| umls:C0029925 | Ovarian Carcinoma | 1 | BeFree |
| umls:C0032002 | Pituitary Diseases | 1 | BeFree |
| umls:C0035220 | Respiratory Distress Syndrome, Newborn | 1 | BeFree |
| umls:C0035222 | Respiratory Distress Syndrome, Adult | 1 | BeFree |
| umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
| umls:C0040561 | Ocular Toxoplasmosis | 1 | GAD |
| umls:C0085315 | Toxoplasmosis, Cerebral | 1 | GAD |
| umls:C0085635 | Photopsia | 1 | BeFree |
| umls:C0158981 | Neonatal diabetes mellitus | 1 | BeFree |
| umls:C0206062 | Lung Diseases, Interstitial | 1 | BeFree |
| umls:C0206525 | Tuberculosis, Drug-Resistant | 1 | BeFree |
| umls:C0206701 | Cystadenocarcinoma, Serous | 1 | BeFree |
| umls:C0206726 | gliosarcoma | 1 | BeFree |
| umls:C0235272 | Retinal damage | 1 | BeFree |
| umls:C0240340 | Microdontia (disorder) | 1 | BeFree |
| umls:C0271086 | Toxic maculopathy | 1 | BeFree |
| umls:C0271215 | Blindness, Legal | 1 | BeFree |
| umls:C0275544 | Congenital infectious disease | 1 | BeFree |
| umls:C0278996 | Cancer of Head and Neck | 1 | BeFree |
| umls:C0333307 | Superficial ulcer | 1 | BeFree |
| umls:C0456909 | Blind Vision | 1 | GAD |
| umls:C0494463 | Alzheimer Disease, Late Onset | 1 | BeFree |
| umls:C0497406 | Overweight | 1 | BeFree |
| umls:C0521648 | Neonatal respiratory failure | 1 | BeFree |
| umls:C0521683 | Chorioretinal degeneration | 1 | BeFree |
| umls:C0600139 | Prostate carcinoma | 1 | BeFree |
| umls:C0730290 | Cone dystrophy | 1 | BeFree |
| umls:C0730294 | North Carolina macular dystrophy | 1 | BeFree |
| umls:C0877104 | Retinal toxicity | 1 | BeFree |
| umls:C0947622 | Cholecystolithiasis | 1 | BeFree |
| umls:C1140680 | Malignant neoplasm of ovary | 1 | BeFree |
| umls:C1333600 | Hereditary Malignant Neoplasm | 1 | BeFree |
| umls:C1458155 | Mammary Neoplasms | 1 | BeFree |
| umls:C1827301 | Extensively Drug-Resistant Tuberculosis | 1 | BeFree |
| umls:C1838644 | Stargardt disease 3 | 1 | BeFree |
| umls:C1848638 | USHER SYNDROME, TYPE IB (disorder) | 1 | BeFree |
| umls:C3711368 | Surfactant Dysfunction | 1 | BeFree |
| umls:C3714514 | Infection | 1 | LHGDN |
| umls:C1858080 | Retinal Dystrophy, Early Onset Severe | 0 | CLINVAR |
| umls:C1866422 | RETINITIS PIGMENTOSA 19 | 0 | CLINVAR,CTD_human,MGD |
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