TissGeneSummary for CPS1 |
Gene summary |
Basic gene information | Gene symbol | CPS1 |
Gene name | carbamoyl-phosphate synthase 1, mitochondrial | |
Synonyms | CPSASE1|PHN | |
Cytomap | UCSC genome browser: 2q35 | |
Type of gene | protein-coding | |
RefGenes | NM_001122633.2, NM_001122634.2,NM_001875.4, | |
Description | carbamoyl-phosphate synthase [ammonia], mitochondrialcarbamoylphosphate synthetase I | |
Modification date | 20141211 | |
dbXrefs | MIM : 608307 | |
HGNC : HGNC | ||
Ensembl : ENSG00000021826 | ||
HPRD : 01995 | ||
Vega : OTTHUMG00000132994 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_CPS1 | |
BioGPS: 1373 | ||
Pathway | NCI Pathway Interaction Database: CPS1 | |
KEGG: CPS1 | ||
REACTOME: CPS1 | ||
Pathway Commons: CPS1 | ||
Context | iHOP: CPS1 | |
ligand binding site mutation search in PubMed: CPS1 | ||
UCL Cancer Institute: CPS1 | ||
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) | CervixLiver | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | CESCLIHC | |
Reference showing the relevant tissue of CPS1 | ||
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 | GO:0032496 | response to lipopolysaccharide | 15897806 | GO:0050667 | homocysteine metabolic process | 20031578 | GO:0032496 | response to lipopolysaccharide | 15897806 | GO:0050667 | homocysteine metabolic process | 20031578 |
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TissGeneExp for CPS1 |
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) |
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) |
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. |
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 |
KIRC | -1.328016909 | 0.68025948 | -2.008276389 | 1.38E-14 | 6.72E-14 |
BRCA | -0.851791909 | 1.226899319 | -2.078691228 | 2.39E-23 | 2.15E-22 |
LIHC | 7.060199424 | 9.886499424 | -2.8263 | 3.96E-06 | 1.87E-05 |
THCA | -1.66911705 | 0.09597278 | -1.765089831 | 2.71E-09 | 1.48E-08 |
KICH | -2.563088576 | -0.006488576 | -2.5566 | 3.17E-06 | 1.09E-05 |
LUAD | 0.005136252 | -1.477203403 | 1.482339655 | 0.00153 | 0.003243658 |
KIRP | -1.335439826 | 0.532900799 | -1.868340625 | 0.000667 | 0.001917197 |
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TissGene-miRNA for CPS1 |
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 CPS1 |
TissGeneSNV for CPS1 |
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. |
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) |
- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.R638C | SKCM | 2 |
p.R1089C | SKCM | 2 |
p.D358N | SKCM | 2 |
p.K751N | BLCA | 2 |
p.S430L | SKCM | 2 |
p.R644* | UCEC | 2 |
p.N74I | SKCM | 2 |
p.N1401K | SARC | 2 |
p.G1248E | SKCM | 2 |
p.T855K | LUSC | 2 |
p.P1131H | LUSC | 1 |
p.V1095A | LUAD | 1 |
p.R593H | STAD | 1 |
p.A782S | SKCM | 1 |
p.I858N | PAAD | 1 |
p.G513D | ESCA | 1 |
p.D973E | PRAD | 1 |
p.R1095H | UCEC | 1 |
p.F1281L | BRCA | 1 |
p.R1174Q | SKCM | 1 |
p.R1481C | SKCM | 1 |
p.L1472R | STAD | 1 |
p.A1186T | UCEC | 1 |
p.L1472R | ESCA | 1 |
p.A504T | STAD | 1 |
p.R906W | LUAD | 1 |
p.A485V | UCEC | 1 |
p.H366Y | LUAD | 1 |
p.V960L | UCEC | 1 |
p.V997F | STAD | 1 |
p.R689C | HNSC | 1 |
p.P846S | LUAD | 1 |
p.L678P | STAD | 1 |
p.V221L | LUAD | 1 |
p.P1302S | SKCM | 1 |
p.L904V | HNSC | 1 |
p.M311I | LUAD | 1 |
p.R12S | BLCA | 1 |
p.R286H | LIHC | 1 |
p.H1490Y | SKCM | 1 |
p.T961K | BRCA | 1 |
p.S904C | LUSC | 1 |
p.K581Q | STAD | 1 |
p.G1460E | SKCM | 1 |
p.D859N | BLCA | 1 |
p.K483T | READ | 1 |
p.R814W | PRAD | 1 |
p.L910M | UCEC | 1 |
p.D1256G | LIHC | 1 |
p.L937R | LUSC | 1 |
p.L864I | LUAD | 1 |
p.Y443F | LUAD | 1 |
p.V1435A | SKCM | 1 |
p.L1116P | LUAD | 1 |
p.S312F | SKCM | 1 |
p.A1161S | LUSC | 1 |
p.M508I | LUAD | 1 |
p.H69Q | LUSC | 1 |
p.V984A | SKCM | 1 |
p.E724X | READ | 1 |
p.T85S | KIRC | 1 |
p.T652I | LUSC | 1 |
p.A1378S | HNSC | 1 |
p.I207N | LUSC | 1 |
p.I1236V | BLCA | 1 |
p.S771N | LIHC | 1 |
p.R781H | STAD | 1 |
p.P501T | LUAD | 1 |
p.R678K | SKCM | 1 |
p.P705S | SKCM | 1 |
p.G982C | LUAD | 1 |
p.A52T | UCEC | 1 |
p.T550M | STAD | 1 |
p.G35S | OV | 1 |
p.N963D | LUAD | 1 |
p.N505H | COAD | 1 |
p.A275V | SKCM | 1 |
p.F912I | STAD | 1 |
p.D844N | KIRC | 1 |
p.S429F | LUSC | 1 |
p.P1217S | ESCA | 1 |
p.E637Q | GBM | 1 |
p.R689H | STAD | 1 |
p.P382L | STAD | 1 |
p.E519Q | LUAD | 1 |
p.A579S | OV | 1 |
p.L891V | BLCA | 1 |
p.A103V | ESCA | 1 |
p.T166I | LUAD | 1 |
p.A855S | LUAD | 1 |
p.P1211S | ESCA | 1 |
p.A498T | STAD | 1 |
p.S924X | PAAD | 1 |
p.R1492G | LUAD | 1 |
p.G1077D | STAD | 1 |
p.A1161V | GBM | 1 |
p.K1230E | LIHC | 1 |
p.L1478R | STAD | 1 |
p.L1470P | ESCA | 1 |
p.T1213N | LUSC | 1 |
p.K934N | LUAD | 1 |
p.N698S | SKCM | 1 |
p.K630N | STAD | 1 |
p.P464R | LUAD | 1 |
p.R1001C | LUAD | 1 |
p.L672P | STAD | 1 |
p.G215R | SKCM | 1 |
p.R689C | STAD | 1 |
p.G698D | LUSC | 1 |
p.M662I | LUSC | 1 |
p.R1319M | LUAD | 1 |
p.D826Y | READ | 1 |
p.E694K | SKCM | 1 |
p.V469F | LUAD | 1 |
p.P501L | OV | 1 |
p.R803S | LUAD | 1 |
p.S980N | COAD | 1 |
p.K1275N | UCEC | 1 |
p.F918I | STAD | 1 |
p.E639* | UCEC | 1 |
p.G363E | THCA | 1 |
p.V1139A | UCEC | 1 |
p.R1323W | LIHC | 1 |
p.R721L | LIHC | 1 |
p.N1062T | ESCA | 1 |
p.S631P | STAD | 1 |
p.K560T | LUAD | 1 |
p.L1258F | LUAD | 1 |
p.E534X | STAD | 1 |
p.V242A | BLCA | 1 |
p.S755F | HNSC | 1 |
p.G1077R | LIHC | 1 |
p.H1190R | STAD | 1 |
p.S625P | STAD | 1 |
p.E162* | UCEC | 1 |
p.A675V | HNSC | 1 |
p.E255K | PAAD | 1 |
p.H1162Y | LUAD | 1 |
p.I719S | BRCA | 1 |
p.N1068T | ESCA | 1 |
p.F992L | LUAD | 1 |
p.D844E | UCEC | 1 |
p.T95K | LUAD | 1 |
p.S1216N | PAAD | 1 |
p.A340V | SKCM | 1 |
p.Q194K | ESCA | 1 |
p.R9K | ESCA | 1 |
p.R775H | STAD | 1 |
p.A303S | LUAD | 1 |
p.A726V | SKCM | 1 |
p.A314T | COAD | 1 |
p.L870I | LUSC | 1 |
p.L200F | LUAD | 1 |
p.R777Q | READ | 1 |
p.R336Q | READ | 1 |
p.P774T | KIRC | 1 |
p.A1025V | SKCM | 1 |
p.V831E | SKCM | 1 |
p.F394L | LUAD | 1 |
p.T373I | COAD | 1 |
p.F37I | CESC | 1 |
p.D838N | KIRC | 1 |
p.R587H | STAD | 1 |
p.A1321S | LUAD | 1 |
p.R550H | COAD | 1 |
p.R721Q | ESCA | 1 |
p.R286H | COAD | 1 |
p.R1492M | LUAD | 1 |
p.K1076R | STAD | 1 |
p.E1034* | LUAD | 1 |
p.M976I | LUAD | 1 |
p.M542L | LUAD | 1 |
p.P411S | LUAD | 1 |
p.T544M | UCS | 1 |
p.S597* | LUAD | 1 |
p.M102V | GBM | 1 |
p.H967N | LUAD | 1 |
p.Q359K | LUAD | 1 |
p.L270F | LUAD | 1 |
p.R3K | ESCA | 1 |
p.G1339V | PAAD | 1 |
p.G737_splice | LUSC | 1 |
p.Q194K | LUSC | 1 |
p.V1101I | LUSC | 1 |
p.P668S | SKCM | 1 |
p.V426F | TGCT | 1 |
p.V753A | STAD | 1 |
p.K575Q | STAD | 1 |
p.K207E | LUAD | 1 |
p.T1214I | SKCM | 1 |
p.T24A | LUAD | 1 |
p.V1164M | PRAD | 1 |
p.H1447Y | SKCM | 1 |
p.L937P | ESCA | 1 |
p.P265Q | LUAD | 1 |
p.Q1243* | SKCM | 1 |
p.P464Q | LUAD | 1 |
p.I404M | BRCA | 1 |
p.D1129N | LUSC | 1 |
p.K375E | STAD | 1 |
p.G1182C | LUAD | 1 |
p.G258E | COAD | 1 |
p.I864N | PAAD | 1 |
p.R723Q | SKCM | 1 |
p.A657S | COAD | 1 |
p.L1464P | ESCA | 1 |
p.Q1088P | LUSC | 1 |
p.P195Q | SKCM | 1 |
p.S557L | BRCA | 1 |
p.H1196R | STAD | 1 |
p.Y489* | UCEC | 1 |
p.R1002Q | COAD | 1 |
p.R695H | STAD | 1 |
p.P851S | SKCM | 1 |
p.P563L | BLCA | 1 |
p.H249Q | UCEC | 1 |
p.L506M | LUAD | 1 |
p.K369E | STAD | 1 |
p.E155K | SKCM | 1 |
p.R1262* | SARC | 1 |
p.R43M | UCEC | 1 |
p.H1343Y | SKCM | 1 |
p.V1003F | STAD | 1 |
p.S819C | BLCA | 1 |
p.L5F | READ | 1 |
p.R1377Q | UCEC | 1 |
p.R1459W | UCEC | 1 |
p.P939L | SKCM | 1 |
p.K527T | LUAD | 1 |
p.R1010C | STAD | 1 |
p.P1407S | SKCM | 1 |
p.I1342F | HNSC | 1 |
p.C522F | CHOL | 1 |
p.A1119V | LUAD | 1 |
p.E528* | STAD | 1 |
p.G507D | ESCA | 1 |
p.E1171Q | HNSC | 1 |
p.H1039Y | SKCM | 1 |
p.K1070R | STAD | 1 |
p.G363R | THCA | 1 |
p.Q443H | LUSC | 1 |
p.D1289G | BLCA | 1 |
p.E866K | SKCM | 1 |
p.Y443H | COAD | 1 |
p.G628V | LUAD | 1 |
p.W29* | SKCM | 1 |
p.L958V | HNSC | 1 |
p.L1264M | ESCA | 1 |
p.N1068K | STAD | 1 |
p.P739L | LUSC | 1 |
p.W149X | LIHC | 1 |
p.Q500K | LUAD | 1 |
p.E446* | UCEC | 1 |
p.S918* | PAAD | 1 |
p.R888C | GBM | 1 |
p.L1128F | BLCA | 1 |
p.E153D | READ | 1 |
p.L1478R | ESCA | 1 |
p.H996Y | SKCM | 1 |
p.S847T | OV | 1 |
p.P780T | KIRC | 1 |
p.Q517X | KIRC | 1 |
p.P388L | STAD | 1 |
p.V759A | STAD | 1 |
p.G1083R | LIHC | 1 |
p.E1175K | SKCM | 1 |
p.I867M | LUAD | 1 |
p.L1258F | KIRP | 1 |
p.Q548P | STAD | 1 |
p.E1145K | SKCM | 1 |
p.L1302F | LUSC | 1 |
p.A687T | LGG | 1 |
p.E657D | UCEC | 1 |
p.G193C | LUSC | 1 |
p.P1407L | BLCA | 1 |
p.D502H | LUAD | 1 |
p.P956S | SKCM | 1 |
p.R1095C | UCEC | 1 |
p.A1476V | SKCM | 1 |
p.L532F | LUSC | 1 |
p.L1006R | STAD | 1 |
p.D358N | LUAD | 1 |
p.V628L | LUSC | 1 |
p.E703D | COAD | 1 |
p.S1267F | LIHC | 1 |
p.C516F | STAD | 1 |
p.G756R | HNSC | 1 |
p.A1233S | SKCM | 1 |
p.P81Q | LUAD | 1 |
p.A334D | LUAD | 1 |
p.P601S | SKCM | 1 |
p.S557X | ESCA | 1 |
p.N1062K | STAD | 1 |
p.R727Q | ESCA | 1 |
p.R1129K | SKCM | 1 |
p.H1447D | LUAD | 1 |
p.R523K | LGG | 1 |
p.T1449A | LUSC | 1 |
p.D1146N | SKCM | 1 |
p.P388Q | UCEC | 1 |
p.L1251I | UCEC | 1 |
p.V1306A | LUAD | 1 |
p.V1282E | SKCM | 1 |
p.T91S | KIRC | 1 |
p.M662K | LUSC | 1 |
p.L1258M | ESCA | 1 |
p.S1314F | SKCM | 1 |
p.P411L | HNSC | 1 |
p.C522F | STAD | 1 |
p.H782Y | HNSC | 1 |
p.C822R | GBM | 1 |
p.Q188K | ESCA | 1 |
p.L260F | LUAD | 1 |
p.N680I | BRCA | 1 |
p.C717F | KIRP | 1 |
p.S755F | SKCM | 1 |
p.T550M | UCS | 1 |
p.A1310S | LUAD | 1 |
p.T1084R | BRCA | 1 |
p.V1377E | HNSC | 1 |
p.R1377W | UCEC | 1 |
p.K1074N | ACC | 1 |
p.R270Q | COAD | 1 |
p.R727L | LIHC | 1 |
p.T763I | SKCM | 1 |
p.K405R | LIHC | 1 |
p.R906M | LUAD | 1 |
p.S1222N | PAAD | 1 |
p.A1054S | THYM | 1 |
p.K914N | LUSC | 1 |
p.L504F | HNSC | 1 |
p.A863D | DLBC | 1 |
p.Q554P | STAD | 1 |
p.G122R | UCEC | 1 |
p.K636N | STAD | 1 |
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TissGeneCNV for CPS1 |
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 CPS1 |
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 | AV694689 | CPS1-PRDX3 | chr2:211421447 | chr10:120927794 | |
Chimerdb3.0 | ChiTaRs | NA | BX102832 | CPS1-IFNGR1 | chr2:211523729 | chr6:137518622 | |
TCGAfusionPortal | PRADA | PRAD | TCGA-KC-A7F3-01A | ZC3H15-CPS1 | In-frame | Chr2:187351184 | Chr2:211454830 |
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TissGeneNet for CPS1 |
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) |
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TissGeneProg for CPS1 |
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. |
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. |
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. |
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 CPS1 |
TissGeneDrug for CPS1 |
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 CPS1 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0751753 | Carbamoyl-Phosphate Synthase I Deficiency Disease | 12 | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT |
umls:C0220994 | Hyperammonemia | 3 | CTD_human,GAD |
umls:C2239176 | Liver carcinoma | 3 | BeFree |
umls:C0020538 | Hypertensive disease | 2 | LHGDN,RGD |
umls:C0023893 | Liver Cirrhosis, Experimental | 2 | CTD_human,RGD |
umls:C0023903 | Liver neoplasms | 2 | BeFree |
umls:C0085605 | Liver Failure | 2 | RGD |
umls:C0520459 | Necrotizing Enterocolitis | 2 | BeFree,GAD,LHGDN |
umls:C1561955 | Fibrinogen Adverse Event | 2 | GAD,GWASCAT |
umls:C0001122 | Acidosis | 1 | RGD |
umls:C0010414 | Infection by Cryptococcus neoformans | 1 | BeFree |
umls:C0011853 | Diabetes Mellitus, Experimental | 1 | RGD |
umls:C0013080 | Down Syndrome | 1 | BeFree |
umls:C0014544 | Epilepsy | 1 | GAD |
umls:C0015695 | Fatty Liver | 1 | RGD |
umls:C0015934 | Fetal Growth Retardation | 1 | RGD |
umls:C0019188 | Hepatitis, Animal | 1 | RGD |
umls:C0019360 | Herpes zoster disease | 1 | BeFree |
umls:C0020542 | Pulmonary Hypertension | 1 | BeFree,GAD |
umls:C0022661 | Kidney Failure, Chronic | 1 | GAD |
umls:C0023904 | Liver Neoplasms, Experimental | 1 | RGD |
umls:C0025362 | Mental Retardation | 1 | BeFree |
umls:C0028754 | Obesity | 1 | RGD |
umls:C0031190 | Persistent Fetal Circulation Syndrome | 1 | CTD_human |
umls:C0032768 | Postherpetic neuralgia | 1 | BeFree,CLINVAR |
umls:C0032927 | Precancerous Conditions | 1 | CTD_human |
umls:C0036341 | Schizophrenia | 1 | GAD |
umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
umls:C0042373 | Vascular Diseases | 1 | GAD |
umls:C0150055 | Chronic pain | 1 | BeFree |
umls:C0151526 | Premature Birth | 1 | GAD |
umls:C0154246 | Urea Cycle Disorders, Inborn | 1 | BeFree |
umls:C0279000 | Liver and Intrahepatic Biliary Tract Carcinoma | 1 | BeFree |
umls:C0345904 | Malignant neoplasm of liver | 1 | BeFree |
umls:C0376618 | Endotoxemia | 1 | CTD_human |
umls:C0740380 | Varicella zoster | 1 | BeFree |
umls:C0741916 | Cardiac defects | 1 | BeFree |
umls:C1512409 | Hepatocarcinogenesis | 1 | BeFree |
umls:C1561535 | Creatinine finding | 1 | GAD |
umls:C1561643 | Chronic Kidney Diseases | 1 | GWASCAT |
umls:C1842297 | VENOOCCLUSIVE DISEASE AFTER BONE MARROW TRANSPLANTATION, SUSCEPTIBILITY TO | 0 | CLINVAR |
umls:C2677362 | Alveolar capillary dysplasia | 0 | CTD_human |