PedAM

Pediatric Disease Annotations & Medicines


	orotic aciduria

Disease ID	765
Disease	orotic aciduria
Definition	excess of orotic acid in the urine occurring in several metabolic disorders and also resulting from the administration of some drugs; one disorder is an autosomal recessive defect of pyrimidine metabolism due to deficiency of orate phosphoribosyltransferate or orotidine 5'-phosphatae decarboxylase.
Synonym	acidurias orotic deficiency of orotate phosphoribosyltransferase deficiency of orotate phosphoribosyltransferase (disorder) deficiency of orotidine-5'-phosphate pyrophosphorylase deficiency of orotidylic acid phosphorylase high urine orotic acid levels orotate phosphoribosyltransferase deficiency orotic aciduria (disorder) orotic aciduria, nos oroticaciduria oroticaciduria (disorder)
OMIM	OMIM:258900
DOID	DOID:0050833
UMLS	C0268128
SNOMED-CT	SNOMEDCT_US_2016_09_01:124277009;SNOMEDCT_US_2016_09_01:47641009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0014544 \| epilepsy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) UMPS \| 7372 \| CLINVAR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:28) 5009 \| OTC \| DISEASES 158 \| ADSL \| DISEASES 1723 \| DHODH \| DISEASES 4967 \| OGDH \| DISEASES 7372 \| UMPS \| DISEASES 445 \| ASS1 \| DISEASES 8455 \| ATRN \| DISEASES 84083 \| ZRANB3 \| DISEASES 3938 \| LCT \| DISEASES 1807 \| DPYS \| DISEASES 9056 \| SLC7A7 \| DISEASES 10841 \| FTCD \| DISEASES 3251 \| HPRT1 \| DISEASES 435 \| ASL \| DISEASES 9610 \| RIN1 \| DISEASES 54968 \| TMEM70 \| DISEASES 23428 \| SLC7A8 \| DISEASES 51733 \| UPB1 \| DISEASES 788 \| SLC25A20 \| DISEASES 6906 \| SERPINA7 \| DISEASES 60 \| ACTB \| DISEASES 1806 \| DPYD \| DISEASES 4352 \| MPL \| DISEASES 116085 \| SLC22A12 \| DISEASES 353 \| APRT \| DISEASES 10157 \| AASS \| DISEASES 522 \| ATP5J \| DISEASES 10165 \| SLC25A13 \| DISEASES
Locus	(Waiting for update.)

Disease ID	765
Disease	orotic aciduria
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	765
Disease	orotic aciduria
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0086438 \| hypogammaglobulinemia
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121917890	NA	7372	UMPS	umls:C0268128	CLINVAR	NA	0.120271442	NA	UMPS	3	124735222	A	G
rs121917891	NA	7372	UMPS	umls:C0268128	CLINVAR	NA	0.120271442	NA	UMPS	3	124743926	G	C
rs121917892	NA	7372	UMPS	umls:C0268128	CLINVAR	NA	0.120271442	NA	UMPS	3	124737583	T	G

GWASdb Annotation(Total Genotypes:4)
Chr	Pos	SNP_Id	RefGene	EnsemblGene	ENCODE_Factor	ENCODE_TFBS	Chromosome_interaction	GTEx_eQTL	SNP_TFBS_affinity_GWAS3D	SNP_miRNA_target_affinity_PolymiRTS	SNP_splicing_effect_Skippy	SNP_splicing_effect_MutPred_Splice	SNP_ns_protein_effect_dbNSFP	SNP_syn_effect_Silva	SNP_phosphorylation_effect_PhosSNP	PhastCons_score	PhyloP_score	GERP++_RS	Segway_state	Ancestral_allele	ESP_AF	ESP_AFR	ESP_AFR	ESP_EUR	TG_ASN	TG_AMR	TG_AFR	TG_EUR	Type	Consequence	bStatistic	EncH3K27Ac	EncH3K4Me1	EncH3K4Me3	EncNucleo	OMIM	Clinvar
3	124453383	rs10934683	NR_033437,UMPS	NM_000373,UMPS	NR_033434,UMPS	ENST00000232607,ENSG00000114491	ENST00000462091,ENSG00000114491	ENST00000467167,ENSG00000114491	ENST00000479719,ENSG00000114491	ENST00000460034,ENSG00000114491	ENST00000497791,ENSG00000114491	ENST00000474588,ENSG00000114491	ENST00000475510,ENSG00000242199	MCV-3	NA	chr3,124450001,124460000,chr12,12210001,12220000,89,Hi-C	chr3,124450001,124460000,chr3,101160001,101170000,11,Hi-C	NA	Rpn4-primary,1.6003	LM1,1.5585	LM1,1.7579	LM6,5.3944	LM10,2.0421	NA	NA	NA	NA	NA	NA	0.002	-0.432	-1.7	GE1	C	NA	NA	NA
3	124456742	rs1801019	NR_033437,UMPS	NM_000373,UMPS	NR_033434,UMPS	ENST00000232607,ENSG00000114491	ENST00000462091,ENSG00000114491	ENST00000467167,ENSG00000114491	ENST00000479719,ENSG00000114491	ENST00000460034,ENSG00000114491	ENST00000497791,ENSG00000114491	ENST00000474588,ENSG00000114491	ENST00000498715,ENSG00000114491	ENST00000413078,ENSG00000114491	ENST00000487622,ENSG00000114491	ENST00000495751,ENSG00000114491	NA	NA	chr3,124450001,124460000,chr12,12210001,12220000,89,Hi-C	chr3,124450001,124460000,chr3,101160001,101170000,11,Hi-C	NA	LM25,1.6431	Spz1,5.1212	GGGNRMNNYCAT,2.0321	XCPE1,1.5162	NA	NA	NA	UMPS,G,A,G,D,0,0.83,0.999958,0.995154	UMPS,G,C,G,A,0.004,0.77,0.999958,0.986783	UMPS,G,T,G,V,0.008,0.86,0.999958,0.997739	NA	NM_000373,TypeIII+,GGT->GCT,G->A,1.562	NM_000373,TypeIII+,GGT->GCT,G->A,4.778	NM_000373,TypeIII+,GGT->GCT,G->A,4	NM_000373,TypeIII+,GGT->GCT,G->A,4	NM_000373,TypeIII-,GGT->GCT,G->A,2.273
3	124458816	rs694897	NR_033437,UMPS	NM_000373,UMPS	NR_033434,UMPS	ENST00000232607,ENSG00000114491	ENST00000462091,ENSG00000114491	ENST00000467167,ENSG00000114491	ENST00000479719,ENSG00000114491	ENST00000460034,ENSG00000114491	ENST00000497791,ENSG00000114491	ENST00000474588,ENSG00000114491	ENST00000413078,ENSG00000114491	ENST00000487622,ENSG00000114491	ENST00000495751,ENSG00000114491	NA	NA	chr3,124450001,124460000,chr12,12210001,12220000,89,Hi-C	chr3,124450001,124460000,chr3,101160001,101170000,11,Hi-C	NA	LM43,1.5945	LM151,1.3632	LM211,1.8158	Ar,1.3452	bZIP910,2.4709	NA	NA	NA	NA	NA	NA	0.000	-0.025	-0.136	GE0	G	NA
3	124462824	rs3772809	NR_033437,UMPS	NM_000373,UMPS	NR_033434,UMPS	ENST00000232607,ENSG00000114491	ENST00000462091,ENSG00000114491	ENST00000467167,ENSG00000114491	ENST00000479719,ENSG00000114491	ENST00000460034,ENSG00000114491	ENST00000497791,ENSG00000114491	ENST00000474588,ENSG00000114491	ENST00000413078,ENSG00000114491	ENST00000495751,ENSG00000114491	NA	NA	chr3,124460001,124470000,chr3,124420001,124430000,25,Hi-C	chr3,124460001,124470000,chr12,110430001,110440000,4,Hi-C	chr3,124460001,124470000,chr3,122660001,122670000,5,Hi-C	chr3,124460001,124470000,chr14,95250001,95260000,6,Hi-C	NA	Ar,1.2591	ATHB5,1.6538	TGAYRTCA,2.8805	TGAYRTCA,1.7634	TGACATY,19.6498	NA	NA	NA	UMPS,A,C,I,L,0.152,0.99,0.999824,0.987304	UMPS,A,G,I,V,0,0.66,0.999824,0.967371	UMPS,A,T,I,F,0.63,1,0.999824,0.999285	NA	NA	0.852	0.486	2.83

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.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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