PedAM

Pediatric Disease Annotations & Medicines


	isobutyryl-coa dehydrogenase deficiency

Disease ID	1602
Disease	isobutyryl-coa dehydrogenase deficiency
Synonym	acad8 deficiency acyl-coa dehydrogenase family, member 8, deficiency of deficiency of isobutyryl-coa dehydrogenase deficiency of isobutyryl-coa dehydrogenase (disorder) deficiency of isobutyryl-coenzyme a dehydrogenase deficiency of isobutyryl-coenzyme a dehydrogenase (disorder) ibd deficiency isobutyryl-coenzyme a dehydrogenase deficiency
Orphanet	ORPHANET:79159
OMIM	OMIM:611283
UMLS	C1969809
SNOMED-CT	SNOMEDCT_US_2016_09_01:445274004
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) ACAD8 \| 27034 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:1) ACAD8 \| 11q25

Disease ID	1602
Disease	isobutyryl-coa dehydrogenase deficiency
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1602
Disease	isobutyryl-coa dehydrogenase deficiency
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:5)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121908418	NA	27034	ACAD8	umls:C1969809	CLINVAR	NA	0.480542884	NA	ACAD8	11	134258589	T	C
rs121908419	NA	27034	ACAD8	umls:C1969809	CLINVAR	NA	0.480542884	NA	ACAD8	11	134262556	G	A
rs121908420	NA	27034	ACAD8	umls:C1969809	CLINVAR	NA	0.480542884	NA	ACAD8	11	134261786	C	T
rs121908421	NA	27034	ACAD8	umls:C1969809	CLINVAR	NA	0.480542884	NA	ACAD8	11	134261300	C	A,T
rs121908422	NA	27034	ACAD8	umls:C1969809	CLINVAR	NA	0.480542884	NA	ACAD8	11	134261338	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

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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