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| TissGeneSummary for TYR |
 Gene summary |
| Basic gene information | Gene symbol | TYR |
| Gene name | tyrosinase | |
| Synonyms | ATN|CMM8|OCA1|OCA1A|OCAIA|SHEP3 | |
| Cytomap | UCSC genome browser: 11q14.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000372.4, | |
| Description | LB24-ABSK29-ABmonophenol monooxygenaseoculocutaneous albinism IAtumor rejection antigen AB | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 606933 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000077498 | ||
| HPRD : 06086 | ||
| Vega : OTTHUMG00000167294 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_TYR | |
| BioGPS: 7299 | ||
| Pathway | NCI Pathway Interaction Database: TYR | |
| KEGG: TYR | ||
| REACTOME: TYR | ||
| Pathway Commons: TYR | ||
| Context | iHOP: TYR | |
| ligand binding site mutation search in PubMed: TYR | ||
| UCL Cancer Institute: TYR | ||
| Assigned class in TissGDB* | A | |
| Included tissue-specific gene expression resources | HPA,TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Skin | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | SKCM | |
| Reference showing the relevant tissue of TYR | Long term presence of a single predominant tyrosinase-specific T-cell clone associated with disease control in a patient with metastatic melanoma. Int J Cancer. 2010 May 15;126(10):2497-502. doi: 10.1002/ijc.24939. (pmid:19816942) go to article | |
| Description by TissGene annotations | Fused withOncogene | |
| * 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 TYR |
| 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) |
 |
| - 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 |
| HNSC | -1.013401134 | 0.597438401 | -1.610839535 | 0.00132 | 0.004310595 |
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| TissGene-miRNA for TYR |
| 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 TYR |
| TissGeneSNV for TYR |
| 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.M362I | STAD | 2 |
| p.K243N | BLCA | 1 |
| p.R501C | SKCM | 1 |
| p.L495H | LUAD | 1 |
| p.G51D | BRCA | 1 |
| p.N382K | ESCA | 1 |
| p.S267T | STAD | 1 |
| p.R121I | BRCA | 1 |
| p.L388I | STAD | 1 |
| p.I145V | UCEC | 1 |
| p.F269V | UCEC | 1 |
| p.D197Y | UCEC | 1 |
| p.F95L | STAD | 1 |
| p.L138F | HNSC | 1 |
| p.R77Q | COAD | 1 |
| p.R405H | CHOL | 1 |
| p.Q56* | LUSC | 1 |
| p.F338V | ESCA | 1 |
| p.R299C | ESCA | 1 |
| p.G190R | LUAD | 1 |
| p.P301S | SKCM | 1 |
| p.G51S | LIHC | 1 |
| p.G41R | LUAD | 1 |
| p.G254R | HNSC | 1 |
| p.L387F | SKCM | 1 |
| p.C321Y | COAD | 1 |
| p.Q48* | BLCA | 1 |
| p.V83I | DLBC | 1 |
| p.G154E | SARC | 1 |
| p.P508S | SKCM | 1 |
| p.Y156C | GBM | 1 |
| p.F134C | READ | 1 |
| p.E319D | STAD | 1 |
| p.L387F | BRCA | 1 |
| p.G353V | LUAD | 1 |
| p.R434T | BLCA | 1 |
| p.A490P | LUAD | 1 |
| p.F268L | UCEC | 1 |
| p.R299H | LUAD | 1 |
| p.R212I | LGG | 1 |
| p.E219Q | LIHC | 1 |
| p.L59F | SKCM | 1 |
| p.W11R | LUAD | 1 |
| p.T88I | BLCA | 1 |
| p.N300T | SKCM | 1 |
| p.D454N | LUAD | 1 |
| p.A204T | LUSC | 1 |
| p.P110Q | LUAD | 1 |
| p.P152S | DLBC | 1 |
| p.L3Q | LIHC | 1 |
| p.E130A | LGG | 1 |
| p.P417H | STAD | 1 |
| p.P301L | SKCM | 1 |
| p.V410I | SKCM | 1 |
| p.D174N | LUSC | 1 |
| p.P70S | SKCM | 1 |
| p.R402* | LUSC | 1 |
| p.R405H | PAAD | 1 |
| p.L59H | LUAD | 1 |
| p.R422L | LUAD | 1 |
| p.A63T | LUSC | 1 |
| p.G254S | LUSC | 1 |
| p.S277I | THYM | 1 |
| p.R278P | HNSC | 1 |
| p.T144I | BLCA | 1 |
| p.R402Q | CESC | 1 |
| p.D169N | UCEC | 1 |
| p.P38L | BLCA | 1 |
| p.N261T | LUAD | 1 |
| p.C289* | LUAD | 1 |
| p.R239Q | PRAD | 1 |
| p.S360N | BLCA | 1 |
| p.D125N | UCEC | 1 |
| p.S267* | LUAD | 1 |
| p.S287A | LUAD | 1 |
| p.G66E | CESC | 1 |
| p.Q223K | LUAD | 1 |
| p.W39* | SKCM | 1 |
| p.M252I | LUSC | 1 |
| p.G51S | LUSC | 1 |
| p.L3M | LUAD | 1 |
| p.V410D | SKCM | 1 |
| p.137_138YL>*F | HNSC | 1 |
| p.D448V | UCEC | 1 |
| p.W272L | HNSC | 1 |
| p.P457T | LUSC | 1 |
| p.T139P | UCEC | 1 |
| p.A490V | UCEC | 1 |
| p.C276F | LUAD | 1 |
| p.D317A | OV | 1 |
| p.Q56H | LUAD | 1 |
| p.D245N | BLCA | 1 |
| p.T325A | UCS | 1 |
| p.G494V | ESCA | 1 |
| p.S192Y | BRCA | 1 |
| p.V83I | PRAD | 1 |
| p.F269V | STAD | 1 |
| p.Y85C | STAD | 1 |
| p.F386L | LUAD | 1 |
| p.C89F | LUAD | 1 |
| p.E319* | UCEC | 1 |
| p.W238* | SKCM | 1 |
| p.L30P | LIHC | 1 |
| p.Q223K | HNSC | 1 |
| p.T489I | LIHC | 1 |
| p.W80L | LUAD | 1 |
| p.K28N | SARC | 1 |
| p.M179L | STAD | 1 |
| p.Q376E | LGG | 1 |
| p.P257H | LUAD | 1 |
| p.F320V | PAAD | 1 |
| p.L445M | UCEC | 1 |
| p.N259I | UCEC | 1 |
| p.D249Y | BLCA | 1 |
| p.A481P | LIHC | 1 |
| p.S476* | LUAD | 1 |
| p.P38L | LGG | 1 |
| p.L452I | LUAD | 1 |
| p.E130K | BLCA | 1 |
| p.Y173N | SKCM | 1 |
| p.A416V | BRCA | 1 |
| p.R341I | PAAD | 1 |
| p.C91F | LUSC | 1 |
| p.G302E | BLCA | 1 |
| p.V487F | READ | 1 |
| p.R299C | STAD | 1 |
| p.Q470H | STAD | 1 |
| p.C321* | LUAD | 1 |
| p.Y137* | HNSC | 1 |
| p.D237E | BRCA | 1 |
| p.P350L | SKCM | 1 |
| p.R298Q | PAAD | 1 |
| p.R402Q | COAD | 1 |
| p.D240Y | LUAD | 1 |
| p.R434T | HNSC | 1 |
| p.S40R | BRCA | 1 |
| p.P293L | BLCA | 1 |
| p.A493S | LUAD | 1 |
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| TissGeneCNV for TYR |
| 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 TYR |
| 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 | FusionScan | BRCA | TCGA-AC-A2BK-01A | ABTB2-TYR | Out-of-Frame | chr11:34378247 | chr11:89017940 |
| Chimerdb3.0 | FusionScan | BRCA | TCGA-AC-A2BK-01A | ABTB2-TYR | In-Frame | chr11:34378247 | chr11:89028310 |
| Chimerdb3.0 | FusionScan | UVM | TCGA-VD-AA8T-01A | TYR-SET | In-Frame | chr11:88924586 | chr9:131453448 |
| TCGAfusionPortal | PRADA | LGG | TCGA-FG-5963-01A | SLC4A7-TYR | In-frame | Chr3:27525558 | Chr11:88924370 |
| TCGAfusionPortal | PRADA | SKCM | TCGA-EB-A57M-01A | TYR-MMP20 | In-frame | Chr11:88924586 | Chr11:102480761 |
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| TissGeneNet for TYR |
| 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) |
| TYR, CTNNB1, USF1, SYVN1, MITF, TYRP1 (tumor) | TYR, CTNNB1, USF1, SYVN1, MITF, TYRP1 (normal) |
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| COAD (tumor) | COAD (normal) |
| TYR, CTNNB1, USF1, SYVN1, MITF, TYRP1 (tumor) | TYR, CTNNB1, USF1, SYVN1, MITF, TYRP1 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| TYR, CTNNB1, USF1, SYVN1, MITF, TYRP1 (tumor) | TYR, CTNNB1, USF1, SYVN1, MITF, TYRP1 (normal) |
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| KICH (tumor) | KICH (normal) |
| TYR, CTNNB1, USF1, SYVN1, MITF, TYRP1 (tumor) | TYR, CTNNB1, USF1, SYVN1, MITF, TYRP1 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| TYR, CTNNB1, USF1, SYVN1, MITF, TYRP1 (tumor) | TYR, CTNNB1, USF1, SYVN1, MITF, TYRP1 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| TYR, CTNNB1, USF1, SYVN1, MITF, TYRP1 (tumor) | TYR, CTNNB1, USF1, SYVN1, MITF, TYRP1 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| TYR, CTNNB1, USF1, SYVN1, MITF, TYRP1 (tumor) | TYR, CTNNB1, USF1, SYVN1, MITF, TYRP1 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| TYR, CTNNB1, USF1, SYVN1, MITF, TYRP1 (tumor) | TYR, CTNNB1, USF1, SYVN1, MITF, TYRP1 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| TYR, CTNNB1, USF1, SYVN1, MITF, TYRP1 (tumor) | TYR, CTNNB1, USF1, SYVN1, MITF, TYRP1 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| TYR, CTNNB1, USF1, SYVN1, MITF, TYRP1 (tumor) | TYR, CTNNB1, USF1, SYVN1, MITF, TYRP1 (normal) |
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| STAD (tumor) | STAD (normal) |
| TYR, CTNNB1, USF1, SYVN1, MITF, TYRP1 (tumor) | TYR, CTNNB1, USF1, SYVN1, MITF, TYRP1 (normal) |
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| THCA (tumor) | THCA (normal) |
| TYR, CTNNB1, USF1, SYVN1, MITF, TYRP1 (tumor) | TYR, CTNNB1, USF1, SYVN1, MITF, TYRP1 (normal) |
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| TissGeneProg for TYR |
| 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 TYR |
| TissGeneDrug for TYR |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| DB00548 | Azelaic Acid | Inhibitor | Small molecule | Approved |
| DB00600 | Monobenzone | Inhibitor | Small molecule | Approved |
| DB01055 | Mimosine | Inhibitor | Small molecule | Approved |
| DB09526 | Hydroquinone | Inhibitor | Small molecule | Approved |
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| TissGeneDisease for TYR |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0025202 | melanoma | 218 | BeFree,CTD_human,GAD,GWASCAT,LHGDN |
| umls:C0078918 | Albinism, Oculocutaneous | 81 | BeFree,CTD_human,GAD,LHGDN,RGD |
| umls:C0268494 | Oculocutaneous albinism type 1 | 58 | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT |
| umls:C0001916 | Albinism | 42 | BeFree |
| umls:C0027627 | Neoplasm Metastasis | 23 | BeFree,GAD |
| umls:C0278883 | Metastatic melanoma | 22 | BeFree |
| umls:C0042900 | Vitiligo | 13 | BeFree,GAD,GWASCAT,LHGDN |
| umls:C0206735 | Melanoma, Amelanotic | 13 | BeFree,LHGDN |
| umls:C1847835 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | 12 | BeFree |
| umls:C0026010 | Microphthalmos | 11 | BeFree |
| umls:C0162835 | Hypopigmentation disorder | 11 | BeFree |
| umls:C0151779 | Cutaneous Melanoma | 9 | BeFree |
| umls:C0220633 | Uveal melanoma | 8 | BeFree |
| umls:C0004565 | Melanoma, B16 | 7 | BeFree |
| umls:C0268495 | Oculocutaneous albinism type 2 | 7 | BeFree |
| umls:C1876214 | ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT | 7 | BeFree |
| umls:C0268503 | Autosomal recessive ocular albinism | 6 | BeFree |
| umls:C0078917 | Albinism, Ocular | 5 | BeFree,GAD,LHGDN |
| umls:C0178874 | Tumor Progression | 5 | BeFree |
| umls:C0677944 | Sentinel node (disorder) | 5 | BeFree |
| umls:C0036341 | Schizophrenia | 4 | BeFree |
| umls:C1847024 | ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) | 4 | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT |
| umls:C0037286 | Skin Neoplasms | 3 | CTD_human,GAD |
| umls:C0376358 | Malignant neoplasm of prostate | 3 | BeFree,GAD |
| umls:C0677932 | Progressive Neoplastic Disease | 3 | BeFree |
| umls:C3539781 | Progressive cGVHD | 3 | BeFree |
| umls:C3811653 | Experimental Organism Basal Cell Carcinoma | 3 | BeFree |
| umls:C0002793 | Anaplasia | 2 | BeFree |
| umls:C0005586 | Bipolar Disorder | 2 | BeFree |
| umls:C0006118 | Brain Neoplasms | 2 | BeFree |
| umls:C0007114 | Malignant neoplasm of skin | 2 | BeFree |
| umls:C0007117 | Basal cell carcinoma | 2 | CTD_human,GAD,LHGDN |
| umls:C0015230 | Exanthema | 2 | BeFree |
| umls:C0017636 | Glioblastoma | 2 | BeFree |
| umls:C0023418 | leukemia | 2 | BeFree |
| umls:C0027809 | Neurilemmoma | 2 | BeFree |
| umls:C0029925 | Ovarian Carcinoma | 2 | BeFree |
| umls:C0042170 | Uveomeningoencephalitic Syndrome | 2 | BeFree |
| umls:C0079504 | Hermanski-Pudlak Syndrome | 2 | BeFree,GAD |
| umls:C0278881 | stage II melanoma | 2 | BeFree |
| umls:C0600139 | Prostate carcinoma | 2 | BeFree |
| umls:C0686619 | Secondary malignant neoplasm of lymph node | 2 | BeFree |
| umls:C0848332 | Spots on skin | 2 | BeFree |
| umls:C0860594 | Malignant melanoma, metastatic | 2 | BeFree |
| umls:C1533041 | Primary congenital glaucoma | 2 | BeFree |
| umls:C0000768 | Congenital Abnormality | 1 | BeFree |
| umls:C0004135 | Ataxia Telangiectasia | 1 | LHGDN |
| umls:C0004352 | Autistic Disorder | 1 | GAD,MGD |
| umls:C0004364 | Autoimmune Diseases | 1 | GAD |
| umls:C0004936 | Mental disorders | 1 | BeFree |
| umls:C0005684 | Malignant neoplasm of urinary bladder | 1 | GAD |
| umls:C0007131 | Non-Small Cell Lung Carcinoma | 1 | BeFree |
| umls:C0007137 | Squamous cell carcinoma | 1 | BeFree,GAD |
| umls:C0007965 | Chediak-Higashi Syndrome | 1 | BeFree |
| umls:C0008073 | Developmental Disabilities | 1 | BeFree |
| umls:C0008626 | Congenital chromosomal disease | 1 | BeFree |
| umls:C0010674 | Cystic Fibrosis | 1 | BeFree |
| umls:C0016629 | Fowlpox | 1 | BeFree |
| umls:C0016689 | Freckles | 1 | GAD,GWASCAT |
| umls:C0017638 | Glioma | 1 | BeFree |
| umls:C0019348 | Herpes Simplex Infections | 1 | BeFree |
| umls:C0019880 | Homocystinuria | 1 | BeFree |
| umls:C0020302 | Hydrophthalmos | 1 | BeFree |
| umls:C0021400 | Influenza | 1 | BeFree |
| umls:C0022078 | Iris Diseases | 1 | BeFree |
| umls:C0022602 | Actinic keratosis | 1 | BeFree |
| umls:C0022603 | Seborrheic keratosis | 1 | BeFree |
| umls:C0023470 | Myeloid Leukemia | 1 | BeFree |
| umls:C0023474 | Leukemia, Myeloid, Chronic-Phase | 1 | BeFree |
| umls:C0023492 | Leukemia, T-Cell | 1 | BeFree |
| umls:C0023493 | Adult T-Cell Lymphoma/Leukemia | 1 | BeFree |
| umls:C0023520 | Leukodystrophy | 1 | BeFree |
| umls:C0024117 | Chronic Obstructive Airway Disease | 1 | GAD |
| umls:C0024141 | Lupus Erythematosus, Systemic | 1 | BeFree |
| umls:C0024305 | Lymphoma, Non-Hodgkin | 1 | GAD |
| umls:C0026769 | Multiple Sclerosis | 1 | GAD |
| umls:C0027819 | Neuroblastoma | 1 | BeFree |
| umls:C0027960 | Nevus | 1 | BeFree |
| umls:C0027962 | Melanocytic nevus | 1 | BeFree |
| umls:C0030567 | Parkinson Disease | 1 | LHGDN |
| umls:C0032897 | Prader-Willi Syndrome | 1 | BeFree |
| umls:C0033860 | Psoriasis | 1 | BeFree |
| umls:C0033975 | Psychotic Disorders | 1 | BeFree |
| umls:C0035335 | Retinoblastoma | 1 | BeFree |
| umls:C0035369 | Retroviridae Infections | 1 | BeFree |
| umls:C0036651 | Senile lentigo | 1 | BeFree |
| umls:C0037354 | Smallpox | 1 | BeFree |
| umls:C0038814 | Sunburn | 1 | GWASCAT |
| umls:C0040517 | Gilles de la Tourette syndrome | 1 | BeFree |
| umls:C0041341 | Tuberous Sclerosis | 1 | BeFree |
| umls:C0078921 | Albinism, Tyrosinase-Negative | 1 | BeFree |
| umls:C0085648 | Synovial Cyst | 1 | BeFree |
| umls:C0153594 | Malignant neoplasm of testis | 1 | BeFree |
| umls:C0153690 | Secondary malignant neoplasm of bone | 1 | BeFree |
| umls:C0162674 | Chronic progressive external ophthalmoplegia | 1 | BeFree |
| umls:C0242379 | Malignant neoplasm of lung | 1 | GAD |
| umls:C0242596 | Neoplasm, Residual | 1 | BeFree |
| umls:C0242994 | Hantavirus Infections | 1 | BeFree |
| umls:C0333516 | Tumor necrosis | 1 | BeFree |
| umls:C0334439 | Malignant desmoplastic melanoma | 1 | BeFree |
| umls:C0342552 | Autoimmune endocrine disease | 1 | BeFree |
| umls:C0346977 | Secondary malignant neoplasm of spleen | 1 | BeFree |
| umls:C0349204 | Nonorganic psychosis | 1 | BeFree |
| umls:C0349515 | Amelanotic Skin Melanoma | 1 | BeFree |
| umls:C0525045 | Mood Disorders | 1 | BeFree |
| umls:C0555198 | Malignant Glioma | 1 | BeFree |
| umls:C0677886 | Epithelial ovarian cancer | 1 | BeFree |
| umls:C0699790 | Colon Carcinoma | 1 | BeFree |
| umls:C0700095 | Central neuroblastoma | 1 | BeFree |
| umls:C0751202 | Cystathionine beta-Synthase Deficiency Disease | 1 | BeFree |
| umls:C1140680 | Malignant neoplasm of ovary | 1 | BeFree |
| umls:C1258666 | Myxoid cyst | 1 | BeFree |
| umls:C1261473 | Sarcoma | 1 | BeFree |
| umls:C1269684 | Skin pigmentation - finding | 1 | GAD,GWASCAT |
| umls:C1298180 | Single tumor | 1 | BeFree |
| umls:C1321872 | Stage IV Skin Melanoma | 1 | BeFree |
| umls:C1456781 | Benign melanocytic nevus | 1 | BeFree |
| umls:C1511789 | Desmoplastic | 1 | BeFree |
| umls:C1527390 | Neoplasms, Intracranial | 1 | BeFree |
| umls:C1568247 | Usher Syndrome, Type I | 1 | BeFree |
| umls:C1840264 | IMMUNE SUPPRESSION | 1 | BeFree |
| umls:C2931205 | Usher syndrome, type 1A | 1 | BeFree |
| umls:C2931599 | Oculocutaneous albinism type 3 | 1 | BeFree |
| umls:C3266898 | Waardenburg Syndrome | 1 | BeFree |
| umls:C3665346 | Unspecified visual loss | 1 | BeFree |
| umls:C3665593 | Melanocytic nevus of skin | 1 | BeFree |
| umls:C1845069 | ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder) | 0 | CTD_human |
| umls:C1847132 | ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE | 0 | CLINVAR |
| umls:C1856439 | GLAUCOMA 3, PRIMARY CONGENITAL, A | 0 | MGD |
| umls:C1863198 | ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder) | 0 | ORPHANET |
| umls:C2677190 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder) | 0 | CLINVAR |
| umls:C3152204 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 | 0 | CLINVAR |
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